Clinical and computed tomography angiography characteristics of infected vs. non-infected abdominal aortic aneurysm: a comparative study.

PURPOSE: The aim of this study was to investigate the clinical and multi-slice spiral computed tomography angiography (MSCTA) characteristics for the diagnosis of infected AAA. METHODS: This retrospective comparative study included patients who were diagnosed with AAA at our hospital between January 2014 and May 2023. RESULTS: A total of 40 patients were included, comprising 20 with infected AAA and 20 with non-infected AAA. Patients with infected AAA were more likely to be younger (62.9 ± 10.1 vs. 70.0 ± 4.4 years, P = 0.007) and to present with fever [7 (35%) vs. 1 (5%), P = 0.026], pain [15 (75%) vs. 2 (10%), P < 0.001], higher C-reactive protein levels (60.4 ± 57.0 vs. 4.1 ± 2.9 mg/l, P = 0.005), and higher erythrocyte sedimentation rates (47.7 ± 23.4 vs. 15.2 ± 8.3 mm/h, P < 0.001) compared to those with non-infected AAA. Moreover, those with infected AAA exhibited significantly more eccentric saccular morphology [17 (85%) vs. 1 (5%), P = 0.002], a smaller longitudinal-transverse ratio (1.12 ± 0.33 vs. 2.33 ± 0.54, P = 0.001), thicker peri-aneurysmal soft tissue (2.29 ± 1.48 vs. 0.73 ± 0.55 cm, P < 0.001), more lobulated margins [18 (90%) vs. 1 (5%), P = 0.001], lower aortic calcification scores (49 vs. 56, P < 0.001), more pneumatosis [6 (30%) vs. 0 (0%), P = 0.014], more ruptures [15 (75%) vs. 5 (20%), P = 0.002], more blurred peri-abdominal aortic fat spaces [16 (80%) vs. 2 (10%), P = 0.001], more adjacent bone destruction [5 (25%) vs. 0 (0%), P = 0.025], more involvement of the psoas major muscle [8 (40%) vs. 1 (5%), P = 0.005], more lymphadenectasis [8 (40%) vs. 1 (5%), P = 0.020], and less tortuous aortas [2 (10%) vs. 9 (45%), P = 0.034] compared with those with non-infected AAA. CONCLUSION: The clinical manifestations and MSCTA characteristics may differ between infected and non-infected AAA.

Primary Ewing's sarcoma of the intestine: case report and literature review.

Ewing sarcoma (ES)/peripheral primitive neuroectodermal tumor is a highly aggressive malignant tumor that typically presents in bone and soft tissue. Primary ES of the intestine is relatively rare, which poses a challenge in distinguishing it from other primary tumors of the small intestine through imaging. This article details a case study of ES originating in the intestine. Computed tomography (CT) imaging suggested a small intestinal stromal tumor, and so the patient underwent resection of the small bowel and omental tumor. Pathology results confirmed the diagnosis of ES of the small intestine. Following surgery, the patient underwent six cycles of chemotherapy, and a follow-up positron emission tomography-CT revealed widespread dissemination of the disease with intraperitoneal metastasis, ultimately resulting in the death of the patient.

Linear morphea distributed along radial nerve with high incidence of neuromusculoskeletal disorders: A single-center case series.

Linear morphea is the most disabling subtype of morphea, which may cause a series of excutaneous manifestations and sequelae. To futher explore the clinical characteristics of linear morphea, we conducted a retrospective study of 22 patients diagnosed with linear morphea in our department during the past 2 years. Their baseline clinical information, skin manifestations, complications and therapeutic effect were analyzed. Here, we report six cases of a special linear morphea, usually occurring on the unilateral upper limbs of young women, spreading along the distribution of the radial nerve and frequently progressing across the joint, which increases the incidence of neuromusculoskeletal disorders. Instead of traditional topical drugs, a combination of systemic prednisone and methotrexate improved their skin lesions and complications. Recognition of this special type of linear morphea enables earlier diagnosis and active treatment plan, which contributes to ameliorate the symptoms and avoid functional sequelae.

Hydatid Cyst or Echinococcosis: A Comprehensive Review of Transmission, Clinical Manifestations, Diagnosis, and Multidisciplinary Treatment.

Echinococcosis, a parasitic infection caused by Echinococcus tapeworms, can cause various symptoms depending on the location and size of the cysts. This article explores the complexities of echinococcosis, including its transmission cycle, clinical manifestations, diagnosis, and treatment approaches. The review highlights the challenges associated with diagnosing the different echinococcosis types, including cystic echinococcosis, alveolar echinococcosis, and polycystic echinococcosis. Each form of the disease necessitates a unique diagnostic approach that often combines serological tests, imaging techniques, and histological analysis. The article explores treatment options for each type of echinococcosis, including surgical resection, medication, and minimally invasive procedures such as puncture-aspiration-injection-reaspiration (PAIR). The article acknowledges current treatment methods' limitations and emphasises the need for further research into improved diagnostics, drug targets, and preventative measures. This review aims to provide a comprehensive overview of echinococcosis, encompassing its transmission, clinical presentation, diagnosis, and treatment modalities. By outlining the complexities of the disease and highlighting areas for future research, the article hopes to contribute to improved disease management and control. Key findings of the review include the identification of significant diagnostic challenges in differentiating between cystic, alveolar, and polycystic echinococcosis, the varying efficacy of treatment modalities such as surgical resection and PAIR, and the urgent need for further research into enhanced diagnostic methods, novel drug targets, and effective preventative strategies.

Investigating underlying molecular mechanisms, signaling pathways, emerging therapeutic approaches in pancreatic cancer.

Pancreatic adenocarcinoma, a clinically challenging malignancy constitutes a significant contributor to cancer-related mortality, characterized by an inherently poor prognosis. This review aims to provide a comprehensive understanding of pancreatic adenocarcinoma by examining its multifaceted etiologies, including genetic mutations and environmental factors. The review explains the complex molecular mechanisms underlying its pathogenesis and summarizes current therapeutic strategies, including surgery, chemotherapy, and emerging modalities such as immunotherapy. Critical molecular pathways driving pancreatic cancer development, including KRAS, Notch, and Hedgehog, are discussed. Current therapeutic strategies, including surgery, chemotherapy, and radiation, are discussed, with an emphasis on their limitations, particularly in terms of postoperative relapse. Promising research areas, including liquid biopsies, personalized medicine, and gene editing, are explored, demonstrating the significant potential for enhancing diagnosis and treatment. While immunotherapy presents promising prospects, it faces challenges related to immune evasion mechanisms. Emerging research directions, encompassing liquid biopsies, personalized medicine, CRISPR/Cas9 genome editing, and computational intelligence applications, hold promise for refining diagnostic approaches and therapeutic interventions. By integrating insights from genetic, molecular, and clinical research, innovative strategies that improve patient outcomes can be developed. Ongoing research in these emerging fields holds significant promise for advancing the diagnosis and treatment of this formidable malignancy.

Dysarthria as a Presenting Symptom With Rapidly Progressive Imaging Features in Sporadic Creutzfeldt-Jakob Disease: A Case Report.

Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare and fatal neurodegenerative disorder belonging to a group of diseases known as prion disease. Characterized by the formation of abnormal prion proteins in the brain, these conditions lead to tissue damage and vacuolation, giving the brain a sponge-like appearance. sCJD represents the most prevalent form of CJD, accounting for roughly 85% of all CJD cases. We report a case with unusual clinical manifestations. The patient experienced progressive neurological symptoms and MRI progression.

Severe COVID-19 multisystem inflammatory syndrome versus severe dengue in children from Indonesia: a cross-sectional study.

INTRODUCTION: Severe multisystem inflammatory syndrome in children (MIS-C) and severe dengue are challenging to identify during the COVID-19 pandemic in dengue-endemic areas. Fever, multiorgan involvement, and shock characterize both severe MIS-C and severe dengue. Distinguishing between the two diseases is beneficial in initiating proper management. METHODS: Medical records of children < 18 years old who were hospitalized at Hasan Sadikin General Hospital's PICU between December 2020 and July 2022 with severe MIS-C or severe dengue were recorded. Differences were assessed using comparative and descriptive analyses. RESULTS: Seventeen severe dengue patients and 4 severe MIS-C were included. The average age of severe MIS-C was 11.5 years (SD ± 2.9, 95% CI), and that of severe dengue patients was 6.2 years (SD ± 4.4, 95% CI) (p value = 0.034, 95%). Fever and abdominal pain were the most common symptoms in both groups (p = 0.471, 95% CI). Rash (p = 0.049) and nonpurulent conjunctivitis (p = 0.035) were two symptoms with significant differences. The highest platelet count (p-value = 0.006, 95% CI), AST (p-value = 0.026, 95% CI), and D-dimer level (p-value = 0.025, 95% CI) were significantly different between the two cohorts. Cardiac abnormalities were found in all (100%) severe MIS-C patients, but only one (5.9%) in severe dengue patients. CONCLUSION: Age, rash, nonpurulent conjunctivitis, platelet count, AST and D-dimer level may distinguish severe MIS-C from severe dengue fever.

Characterizing the journey of Rett syndrome among females in the United States: a real-world evidence study using the Rett syndrome natural history study database.

BACKGROUND: With the advent of the first targeted therapy for Rett Syndrome (RTT), a comprehensive assessment of the journey of RTT is needed to elucidate on present unmet needs in this population. This study characterized females with RTT in the United States and their disease journey with respect to longitudinal treatment patterns, RTT-related outcomes, and changes in disease severity. METHODS: This retrospective cohort study used registry data of females with RTT from the 5211 RTT Natural History Study (RNHS) (November 2015-July 2021). Pharmacological and supportive therapy use, RTT-related outcomes, and RTT severity, as measured by the Clinical Severity Scale and Motor Behavioral Assessment scale, were evaluated following the first RNHS visit. Analyses were conducted overall and in subgroups by RTT type (classic and atypical RTT) and age at first visit (pediatric and adult). RESULTS: A total of 455 females with RTT were included in the study, of whom 90.5% had classic RTT and 79.8% were pediatric individuals. Over a median follow-up of 4 years, use of pharmacological therapies, including prokinetic agents (42.7% vs. 28.3%), and supportive therapies, including physical therapy (87.3% vs. 40.2%) and speech-language therapy (86.8% vs. 23.9%), were more common in pediatric than adult individuals (all p < 0.05). Nearly half (44.6%) of all individuals had a hospital or emergency room visit, with a higher proportion of visits in individuals with classic RTT than atypical RTT and pediatric than adult individuals (both p = 0.001). An increasing trend in clinical severity was observed in pediatric individuals (mean change per year: 0.24; 95% confidence interval [CI]: 0.03, 0.44), while an increasing trend in motor-behavioral dysfunction was observed in pediatric individuals (mean change per year: 1.12; 95% CI: 0.63, 1.60) and those with classic RTT (mean change per year: 0.97; 95% CI: 0.53, 1.41). CONCLUSIONS: Findings from this study highlight the considerable burden of RTT across disease subtype and age. Despite reliance on supportive therapies and healthcare encounters, individuals with RTT experience increasing disease severity and motor-behavioral dysfunction in childhood and adolescence, underscoring the unmet needs of this population and the value of early intervention to manage RTT in the long-term.

Clinical and multimodal imaging features of adult-onset neuronal intranuclear inclusion disease.

OBJECTIVES: This study aimed to analyze the clinical and multimodal imaging manifestations of adult-onset neuronal intranuclear inclusion disease (NIID) patients and to investigate NIID-specific neuroimaging biomarkers. METHODS: Forty patients were retrospectively enrolled from the Qilu Hospital of Shandong University. We analyzed the clinical and imaging characteristics of 40 adult-onset NIID patients and investigated the correlation between these characteristics and genetic markers and neuropsychological scores. We further explored NIID-specific alterations using multimodal imaging indices, including diffusion tensor imaging (DTI), magnetic resonance spectroscopy (MRS), and brain age estimation. In addition, we summarized the dynamic evolution pattern of NIID by examining the changes in diffusion weighted imaging (DWI) signals over time. RESULTS: The NIID patients' ages ranged from 31 to 77 years. Cognitive impairment was the most common symptom (30/40, 75.0%), while some patients (18/40, 45.0%) initially presented with episodic symptoms such as headache (10/40, 25.0%). Patients with cognitive impairment symptoms had more cerebral white matter damage (χ2 = 11.475, P = 0.009). The most prevalent imaging manifestation was a high signal on DWI in the corticomedullary junction area, which was observed in 80.0% (32/40) of patients. In addition, the DWI dynamic evolution patterns could be classified into four main patterns. Diffusion tensor imaging (DTI) revealed extensive thinning of cerebral white matter fibers. The estimated brain age surpassed the patient's chronological age, signifying advanced brain aging in NIID patients. CONCLUSIONS: The clinical manifestations of NIID exhibit significant variability, usually leading to misdiagnosis. Our results provided new imaging perspectives for accurately diagnosing and exploring this disease's neuropathological mechanisms.

A Study on the Etiology and Clinical Manifestations of Community-Acquired Pneumonia in Adults in Western India.

BACKGROUND:  Community-acquired pneumonia (CAP) is an acute lung infection affecting the alveoli in individuals who have not had recent exposure to healthcare settings. It is characterized by newly detected pulmonary infiltration on a chest X-ray or computed tomography scan, accompanied by at least two of the following symptoms: a new or worsening cough, shortness of breath, increased sputum production, fever or hypothermia, pleuritic chest pain, hypoxia, confusion, or an abnormal WBC count (either leukopenia or leukocytosis). It is a major contributor to global mortality and morbidity, especially in elderly populations. This study aims to investigate the etiology of CAP in our region and analyze the clinical characteristics of patients diagnosed with CAP. METHODOLOGY:  This prospective, hospital-based study was conducted at Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pune, a 2,011-bed multispecialty hospital. The study included 100 patients over 18 years old, diagnosed with CAP, and hospitalized between January 2023 and January 2024. All patients underwent a thorough clinical assessment, and sputum cultures were collected on the day of admission. Patients under 18 years old, those who had been hospitalized within the preceding two weeks, individuals with pneumonia caused by tuberculosis or aspiration pneumonia, patients with compromised immune systems, and pregnant women were excluded. RESULTS:  The study included 100 patients with a mean age of 53.13 years (±18.31). The most common age group was 59-68 years, which included 25 (25%) cases, followed by the 69-78 year age group with 18 (18%) cases and the 18-28 year age group with 15 (15%) cases. The majority were male, with 61 (61%) cases. Common symptoms included fever in 78 cases (78%), chest pain in 69 cases (69%), dyspnea in 65 cases (65%), and cough in 51 cases (51%). Sputum cultures showed growth in 65 cases (65%), with Klebsiella pneumoniae being the most prevalent pathogen in 28 cases (43%), followed by Streptococcus pneumoniae in 18 cases (28%). Together, these two pathogens accounted for 46 out of 65 positive samples (70%). CONCLUSIONS:  This study highlights the clinical profile and rising etiology of K. pneumoniae in CAP in adults in Western India, particularly in the elderly. These findings underscore the need for periodic updates on CAP etiology to inform empirical treatment strategies effectively. Future research should use advanced diagnostics and diverse samples to refine CAP management, with continuous monitoring to update treatment protocols.

Rectus sheath hematoma combined with COVID-19: A case report.

BACKGROUND: Rectus sheath hematoma (RSH) is uncommon, and because people have limited knowledge about it, it is difficult to recognize the symptoms in time, often de-laying optimal treatment. CASE SUMMARY: Herein, we report a case of a 77-year-old female with RSH. The patient was treated at our hospital for coronavirus disease 2019. Anticoagulant treatment was administered during this period because of thrombosis. On the 8th d of treatment, the patient complained of abdominal pain. Ultrasonography revealed a solid cystic mass in the pelvic cavity. An emergency laparotomy was performed, and a huge hematoma was found in the deep layer of the rectus abdominis muscle. We used anticoagulants with caution based on the patient's condition. CONCLUSION: Optimal management of patients with RSH s depends on timely diagnosis and when to reintroduce anticoagulants.

Are Burkholderia Emerging Pathogens in patients with underlying morbidity: A case series.

Burkholderia is a genus consisting of several species including the Burkholderia pseudomallei group, Burkholderia cepacia complex and other phytopathogens. Burkholderia species is a gram-negative bacillus with protean presentation that can be acquired from various sources, including water, soil, plant surfaces, and hospital environments. The organism on Gram staining is seen as gram-negative rod and on culture, the colonies are non-lactose fermenting. As it can mimic other diseases, it is frequently misdiagnosed and there is lack of awareness about the clinical spectrum of disease and diagnosis. This study aims to investigate varied clinical manifestations, identify potential risk factors and transmission modes and contribute to enhancing the clinical management of diseases. The increasing prevalence of Burkholderia infection implies its potential emergence as a significant public health concern, compounded by the growing incidence of diabetes, which has the potential to escalate the overall disease burden. The principal finding of the case series highlighted a spectrum of clinical presentations, emphasizing the need for comprehensive diagnostic strategies and tailored therapeutic interventions. These strategies will address the diverse manifestations and challenges posed by Burkholderia infections. This underscores the importance of heightened awareness among clinicians and microbiologists, given the need for extended treatment to achieve a complete cure and prevent potential relapses.

Lupus de inicio tardío en un grupo de pacientes paraguayos

Introducción: Los pacientes con lupus eritematoso sistémico (LES) diagnosticados después de los 50 años presentan una enfermedad menos severa y un curso clínico más leve. El objetivo de este estudio es describir las características clínicas y de laboratorios del LES en pacientes de edad avanzada. Material y Método: Estudio observacional, descriptivo, de corte trasverso, retrospectivo, de pacientes con el diagnóstico de LES, de inicio posterior a los 50 años de edad, que consultaron en el Hospital Nacional, en el periodo comprendido entre diciembre de 2016 y mayo de 2024. Resultados: Se estudiaron 30 pacientes entre 51 y 87 años (edad media: 62,5 años ± 8,5), 16 mujeres (53,3%) y 14 varones 14 (46,6 %). El tiempo de enfermedad previo al diagnóstico fue de 59,4 ± 8.3 (50-80) días. La duración de la enfermedad fue en promedio 5 años ± 5,1 (1-26). Las principales manifestaciones clínicas fueron las artralgias 26 (86,6%), artritis 22 (72,3%), pérdida de peso 10 (33,3%) y fiebre prolongada (30%). Presentaron comorbilidades 19 pacientes (63,3 %), siendo la hipertensión arterial la principal. El anti-DNA fue positivo en 12 pacientes (42,8%), el anti-Ro en 5/25 pacientes (20%), el anti-Sm en 2/26 (7,9%). La eritrosedimentación en la primera hora fue ≥ 20 mm en 17/23 (73,9%). El 100% recibió tratamiento con hidroxicloroquina, mientras que recibieron corticoides 26 (86.6%) pacientes, micofenolato mofetil 7 (24,4%), ciclofosfamida 4 (13,3%). La mortalidad fue del 6,6 %. Conclusión: Los principales hallazgos fueron artralgias y artritis, siendo menos frecuentes los casos graves. La mayoría presentó comorbilidades, siendo la hipertensión arterial la más frecuente. La mortalidad fue del 6,6% de causa cardiovascular.

Introduction: Patients with systemic lupus erythematosus (SLE) diagnosed after the age of 50 have a less severe disease and a milder clinical course. The objective of this study is to describe the clinical and laboratory characteristics of SLE in elderly patients. Material and Method: Observational, descriptive, cross-sectional, retrospective study of patients with the diagnosis of SLE, with onset after 50 years of age, evaluated at the National Hospital, in the period between December 2016 and May of 2024. Results: 30 patients between 51 and 87 years old (mean age: 62.5 years ± 8.5) were studied, 16 women (53.3%) and 14 men (46.6%). The time to diagnosis was 59.4 ± 8.3 (50-80) days. The duration of the disease was on average 5 years ± 5.1 (1-26). The main clinical manifestations were arthralgia in 26 (86.6%), arthritis in 22 (72.3%), weight loss in 10 (33.3%) and prolonged fever (30%). Nineteen patients (63.3%) had comorbidities, the main one being high blood pressure. Anti-dsDNA was positive in 12 patients (42.8%), anti-Ro in 5/25 patients (20%), anti-Sm in 2/26 (7.9%). The erythrocyte sedimentation rate was ≥ 20 mm in 17/23 (73.9%). All patients were treatment with hydroxychloroquine, 26 (86.6%) patients received corticosteroids, 7 (24.4%) mycophenolate mofetil, 4 (13.3%) cyclophosphamide. Mortality was 6.6%. Conclusion: The main findings were arthralgia and arthritis, with severe cases being less frequent. The majority presented comorbidities, with high blood pressure being the most common. Mortality was 6.6% due to cardiovascular causes.

Characterization of renal damage in Wilson's disease-Detailed analysis of 20 Chinese cases.

OBJECTIVE: Copper metabolism disorder disease is thought to contribute to renal symptoms in Wilson's disease (WD). Nonetheless, there remains limited knowledge regarding the precise characteristics of renal damage in individuals with Wilson's disease, encompassing clinical presentations, biochemical indicators, imaging findings, and renal histopathological alterations. METHODS: In this study, 20 patients diagnosed with Wilson's disease and renal involvement were enrolled in our hospital. These patients met the validated European criteria for Wilson's disease, and those with primary kidney disease or secondary renal damage caused by other underlying conditions were excluded. The baseline data of patients were collected. Various biochemical and hematological parameters were monitored. Biochemical examinations were measured using an automatic biochemistry analyzer, blood routines were tested by flow cytometry analysis, 24-h urine copper was tested by atomic absorption spectrophotometer. Besides, CER was measured by turbidimetric immunoassay with a Hitachi 7020 automatic biochemical analyzer (the intraplate and interplate coefficients of variation were 2.7% and 5.13% respectively). Copper oxidase was tested by colorimetric method using p-phenylenediamine hydrochloride (the intraplate and interplate coefficients of variation were both <10%). Diagnostic criteria for Wilson's disease and kidney damage were established based on the European Association for the Study of the Liver (EASL) and CKD Epidemiology Collaboration guidelines, respectively. Statistical analysis was carried out using t-tests and χ2 tests in SPSS 22.0 software. Significant differences were considered when P<0.05. RESULTS: In those patients with Wilson's disease-related renal damage, edema, gross hematuria, oliguria, and lumbar pain were present in most patients. Microscopic haematuria and proteinuria were also observed in 19 patients. Compared to patients without renal involvement, those with renal complications exhibited a significant increase in white blood cell (WBC) and neutrophil counts (P<0.05). Additionally, patients with renal damage showed a noteworthy rise in both diastolic and systolic blood pressure, along with a significant reduction in hemoglobin levels (P<0.05). Color Doppler ultrasound results revealed diffuse lesions in both kidneys in 12 patients, renal cysts were identified in 5 patients, and 2 patients exhibited abnormal renal blood flow signals. Meanwhile, varying degrees of IgA, IgM, IgG-based immunoglobulins, complement C3 and C1q deposition in the glomerular mesangial area were detected by immunofluorescence. Furthermore, renal puncture biopsy results revealed a spectrum of findings, including minimal change nephrosis in 1 case, IgA nephropathy in 3 cases, atypical membranous proliferative nephropathy in 2 cases, and focal segmental glomerulosclerosis in 1 case. CONCLUSION: This study comprehensively elucidates the distinct attributes of renal damage related to Wilson's disease, while also speculating that renal dysfunction in Wilson's disease could be linked to immune complex deposition. Depending on the underlying pathogenesis, kidney injury associated with Wilson's disease can be classified as primary or secondary. To slow down the progression of renal impairment, it is essential to undergo a renal biopsy pathological examination as early as possible to clarify the type of impairment and take the appropriate treatment.

Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil.

BACKGROUND: Prader-Willi syndrome (PWS) is a genetic disorder characterized by abnormalities in the 15q11-q13 region. Understanding the correlation between genotype and phenotype in PWS is crucial for improved genetic counseling and prognosis. In this study, we aimed to investigate the correlation between genotype and phenotype in 45 PWS patients who previously underwent methylation-sensitive high-resolution melting (MS-HRM) for diagnosis. RESULTS: We employed methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) and Sanger sequencing, along with collecting phenotypic data from the patients for comparison. Among the 45 patients, 29 (64%) exhibited a deletion of 15q11-q13, while the remaining 16 (36%) had uniparental disomy. No statistically significant differences were found in the main signs and symptoms of PWS. However, three clinical features showed significant differences between the groups. Deletion patients had a higher prevalence of myopia than those with uniparental disomy, as well as obstructive sleep apnea and an unusual skill with puzzles. CONCLUSIONS: The diagnostic tests (MS-HRM, MS-MLPA, and Sanger sequencing) yielded positive results, supporting their applicability in PWS diagnosis. The study's findings indicate a general similarity in the genotype-phenotype correlation across genetic subtypes of PWS.

Clinical characteristics of cystic encephalomalacia in children.

Purpose: To investigate the primary causes and clinical characteristics of cystic encephalomalacia (CE) in children. Methods: The clinical data of 50 children who were admitted to our hospital due to CE between January 2008 and December 2020 were retrospectively reviewed. Their primary causes, clinical manifestations and cranial magnetic resonance imaging features were analyzed. Results: Among all patients, 5 had prematurity, 19 had hypoxic-ischemic encephalopathy (HIE), 13 had intracranial infection, 14 had traumatic brain injury and hemorrhage, 4 had cerebral infarction, 2 had congenital genetic diseases, and 1 had hypoglycemia. The average time from primary disease onset to CE diagnosis was 70.1 ± 61.0 days. The clinical manifestations included speech or motor developmental delay (n = 33), epilepsy (n = 31), dystonia (n = 27), limb paralysis (n = 16), and visual or auditory impairment (n = 5). Patients with HIE as the primary cause of CE had a significantly higher occurrence of dystonia, while a significantly higher incidence of paralysis was observed in those with cerebral infarction as the primary cause. Conclusion: CE in children is mainly caused by HIE, intracranial infection, and cerebral hemorrhage. The major clinical manifestations included speech or motor developmental delay, epilepsy, and dystonia. Magnetic resonance imaging is an important tool for the diagnosis of CE.

A case report of urethral prolapse in young girls: Clinical manifestations and surgical management.

BACKGROUND AND IMPORTANCE: Urethral Prolapse (UP), first described by Solinger in 1732, is a rare condition characterized by the circular protrusion of the distal urethral mucosa through the external meatus, forming a hemorrhagic, sensitive vulvar mass. This condition is most commonly observed in prepubertal black females. This case report details the clinical manifestations and surgical management of UP in three young girls. CASES PRESENTATION: Three girls, aged 4, 5, and 6 years, were admitted with symptoms of vaginal blood spotting. Physical examinations revealed moderate bleeding and a red ring of congested, edematous tissue prolapsing through the urethral meatus. Diagnostic procedures confirmed UP, and surgical management was undertaken. The surgical approach involved the complete excision of the prolapsed tissue and mucosal-to-mucosal anastomosis under general anaesthesia. Postoperative follow-up over a mean period of 11 years showed no recurrence or urethral stricture. CLINICAL DISCUSSION: UP is a rare benign condition primarily affecting the female urethra, with several hypothesized etiologies, including weak pelvic floor structures and increased intraabdominal pressure. The typical presentation includes vaginal bleeding and a doughnut-shaped mass around the urethral meatus. Conservative management may be considered for mild cases, but surgical excision is recommended for severe cases, offering a safe and effective solution with low recurrence rates. CONCLUSIONS: UP in children, although rare, should be considered in cases of unexplained vaginal bleeding. Diagnosis is primarily clinical, and surgical resection provides a definitive and cost-effective treatment.

Papillon-Lefèvre syndrome in dental pediatric patient: A comprehensive review.

Introduction: Papillon-Lefèvre syndrome (PLS) is an autosomal recessive genetic disorder characterized by the presence of palmoplantar hyperkeratosis on the hands and feet, as well as severe periodontal disease affecting both the primary and permanent teeth, which can lead to premature tooth loss. Aims: This review aimed to characterize the etiology, clinical manifestations, diagnosis, and recent dental management strategies of pediatric patients with PLS. Material and Methods: A comprehensive search of the electronic literature was conducted using specific keywords such as "Papillon-Lefèvre syndrome in dentistry," "Etiology of Papillon-Lefèvre syndrome," "Oral manifestations of Papillon-Lefèvre syndrome," "Management of Papillon-Lefèvre syndrome," and "Papillon-Lefèvre syndrome." A total of 47 publications that provided relevant information and discussed the various aspects of PLS were identified. Conclusion: The management of PLS necessitates a multidisciplinary approach, including the active involvement of a dental surgeon, dermatologist, and pediatrician to ensure comprehensive care. Extraction of primary teeth and administration of antibiotics is a successful treatment strategy, while placement of removable partial denture is the best option for pediatric patients.

Evaluation of a novel particle-based assay for detecting SLE-related autoantibodies.

Anti-dsDNA, anti-Sm, and anti-ribosomal-P autoantibodies are hallmarks of systemic lupus erythematosus (SLE), being anti-dsDNA and anti-Sm included in 2019-ACR/EULAR SLE-Classification Criteria. Enzyme-linked (ELISA) and chemiluminescence assays (CIA) are widely established in immunology laboratories, but new technologies, such as particle-based multi-analyte technology (PMAT), are nowadays available. The present study aimed to compare the presence of anti-dsDNA and anti-Sm autoantibodies measured by CIA and PMAT and analyze diagnostic and clinical SLE activity performance. Anti-ribosomal-P autoantibodies by PMAT were also included. Consequently, anti-dsDNA and anti-Sm detected by CIA showed substantial agreement with PMAT (Cohen's kappa = 0.662 and 0.671, respectively). Anti-dsDNA autoantibodies measured by PMAT showed a positive correlation with clinical SLEDAI-2K (p < 0.001) and a negative correlation with complement consumption (p < 0.001). Anti-Sm and anti-ribosomal-P autoantibodies showed a positive correlation with SLEDAI-2K (p < 0.001 and p = 0.001, respectively) and a negative correlation with complement consumption (p < 0.001 and p = 0.001, respectively). Finally, anti-Sm autoantibodies were associated with renal involvement (p < 0.05).

The Diagnostic Value of Liver Biopsy for Unexplained Liver Dysfunction: A Retrospective Study.

Objective: To analyse clinical manifestations of unexplained abnormal liver function and perform hepatobiliary histopathology procedures on patients to evaluate the value of liver biopsy in diagnosing the aetiology of unexplained abnormal liver function. Methods: A convenience sampling method was used to retrospectively collect the data of patients who were diagnosed with unexplained abnormal liver function and who received liver biopsy in the Pathology Department of Tianjin Second People's Hospital, China, between March 2022 and July 2023 to analyse liver pathology and clinical manifestations. Results: A total of 1302 patients were included in this study, which mainly included 11 diseases: autoimmune liver disease (74 cases, 5.68%), drug-induced liver injury (DILI) (204 cases, 15.67%), cancer (237 cases, 18.20%), non-alcoholic fatty liver disease (104 cases, 7.99%), non-alcoholic steatohepatitis (74 cases, 5.68%), viral hepatitis (490 cases, 37.63%), other types of hepatitis (30 cases, 2.30%), cholestatic liver disease (17 cases, 1.31%), alcoholic liver disease (15 cases, 1.15%), hepatic cyst (5 cases, 0.38%) and Gilbert syndrome (4 cases, 0.31%). The success rate of liver biopsy sampling was 100%, and (1.52 ± 0.130) tissue strips were sampled. The average operating time was 11.52 minutes. The percutaneous liver biopsy did not significantly increase short-term liver function index values (serum γ-glutamyl transpeptidase, total bilirubin, alanine transaminase, aspartate aminotransferase, alkaline phosphatase). Ninety-two patients had a small amount of liver subcapsular fluid, but there was no progress after medical treatment. Conclusion: Ultrasound-guided percutaneous liver biopsy has value in the diagnosis of unexplained abnormal liver function. Viral hepatitis, cancer and DILI are the most common causes of unexplained abnormal liver function. Liver biopsy does not aggravate the organic and functional impairment of the liver.