Types Of Lesions Research Articles

The association between maternal immune activation and brain structure and function in human offspring: a systematic review.

Maternal immune activation (MIA) during pregnancy, as a result of infectious or inflammatory stimuli, has gained increasing attention for its potential role in adverse child neurodevelopment, with studies focusing on associations in children born preterm. This systematic review summarizes research on the link between several types of prenatal MIA and subsequent child structural and/or functional brain development outcomes. We identified 111 neuroimaging studies in five MIA areas: inflammatory biomarkers (n = 13), chorioamnionitis (n = 18), other types of infections (n = 18), human immunodeficiency virus (HIV) (n = 42), and Zika virus (n = 20). Overall, there was large heterogeneity in the type of MIA exposure examined and in study methodology. Most studies had a prospective single cohort design and mainly focused on potential effects on the brain up to one year after birth. The median sample size was 53 participants. Severe infections, i.e., HIV and Zika virus, were associated with various types of cerebral lesions (e.g., microcephaly, atrophy, or periventricular leukomalacia) that were consistently identified across studies. For less severe infections and chronic inflammation, findings were generally inconsistent and mostly included deviations in white matter structure/function. Current findings have been mainly observed in the infants' brain, presenting an opportunity for future studies to investigate whether these associations persist throughout development. Additionally, the inconsistent findings, encompassing both regions of interest and null results, call into question whether prenatal exposure to less severe infections and chronic inflammation exerts a small effect or no effect on child brain development.

Are Fibrous Cortical Defects (FCDs) and Non-Ossifying Fibromas (NOFs) Only Radiological Findings? The Relationship between Radiological/Clinical Findings and Physical Activity in Children and Adolescents: A Cross-Sectional Study.

Background: Fibrous cortical defect (FCD) and non-ossifying fibroma (NOF) are incidentally recognised and benign developmental lesions. The objective of this study was to ascertain the clinical manifestations and symptoms of FCDs/NOFs in children and adolescent patients, to characterise the lesions radiologically using X-ray and MRI techniques, and to determine the relationship between physical activity and the condition. Methods: The study included patients under the age of 18 with radiological lesions on their extremities. The lesions were classified as FCD or NOF in accordance with the distinctive imaging features. For each lesion, the bone involved, the site involved, the size of the lesion, and the type of lesion (according to the Ritschl classification) were recorded. In the anamnesis, the patient's presenting complaint, the character of the pain, if any, and the level of activity were investigated. Pain was quantified using the visual analogue scale (VAS) and the 21-Numbered Circle VAS (21-NCVAS). The 21-Numbered Circle Activity Scale (21-NCAS) and the International Physical Activity Questionnaire (IPAQ) were employed for the assessment of physical activity. Results: The study included 34 lesions in 28 children (14 girls/14 boys). There was no difference in age between girls and boys (p = 0.45). According to Ritschl's classification, 18 (52.9%) lesions were stage A, 9 (26.5%) were stage B, and 7 (20.6%) were stage C. The lesion size increased with increasing Ritschl stage (p < 0.02). The main presenting complaint was pain (n = 13, 49.9%). In 21.4% of the children (n = 6), lesions were detected incidentally on radiographs. According to IPAQ, 39.3% of the children were physically inactive. There was a significant negative correlation between 21-NCAS and Ritschl stage (r = -0.51, p < 0.05). Activity decreased as the Ritschl stage increased. There was a significant negative correlation between 21-NCAS and VAS (r = -0.69, p < 0.05). Conclusions: Spontaneous pain was observed in 49.9% of patients diagnosed with FCD/NOF. No correlation was identified between lesion size and the presence or severity of pain. As the severity of pain and Ritschl stage increased, there was a corresponding decrease in physical activity.

Detection of breast cancer in digital breast tomosynthesis with vision transformers.

Digital Breast Tomosynthesis (DBT) has revolutionized more traditional breast imaging through its three-dimensional (3D) visualization capability that significantly enhances lesion discernibility, reduces tissue overlap, and improves diagnostic precision as compared to conventional two-dimensional (2D) mammography. In this study, we propose an advanced Computer-Aided Detection (CAD) system that harnesses the power of vision transformers to augment DBT's diagnostic efficiency. This scheme uses a neural network to glean attributes from the 2D slices of DBT followed by post-processing that considers features from neighboring slices to categorize the entire 3D scan. By leveraging a transfer learning technique, we trained and validated our CAD framework on a unique dataset consisting of 3,831 DBT scans and subsequently tested it on 685 scans. Of the architectures tested, the Swin Transformer outperformed the ResNet101 and vanilla Vision Transformer. It achieved an impressive AUC score of 0.934 ± 0.026 at a resolution of 384 384. Increasing the image resolution from 224 to 384 not only maintained vital image attributes but also led to a marked improvement in performance (p-value = 0.0003). The Mean Teacher algorithm, a semi-supervised method using both labeled and unlabeled DBT slices, showed no significant improvement over the supervised approach. Comprehensive analyses across different lesion types, sizes, and patient ages revealed consistent performance. The integration of attention mechanisms yielded a visual narrative of the model's decision-making process that highlighted the prioritized regions during assessments. These findings should significantly propel the methodologies employed in DBT image analysis by setting a new benchmark for breast cancer diagnostic precision.

Percutaneous transthoracic needle biopsy of lung lesions is a safe method associated with a very low risk of pleural recurrence.

Percutaneous transthoracic needle biopsy (PTNB), an alternative to bronchoscopic confirmation of lung lesions, is today being associated with a risk of pneumothorax and hemorrhage. Further, there are no data on the possible risk of malignant disease spreading to the pleura at the site of the PTNB. Previous studies have dealt with this risk in stage I non-small cell lung cancer only. The aim of this study was thus to assess the risk of pleural recurrence for all types of lung lesions. Secondary objectives included assessment of diagnostic yield and safety with respect to the incidence of pneumothorax and hemorrhage. Clinical data of all patients from the University Hospital in Pilsen who had undergone PTNB of lung lesions between 1.1.2018 and 31.12.2022 were included in this retrospective study. Following PTNB, ipsilateral pleural effusion occurred in 4.8% of patients without prior pleural infiltration. The effusion was confirmed as malignant in one patient (0.7%). Diagnostic yield of the method was 86.6%. We recorded pneumothorax or hemorrhage in the lung parenchyma or pleural space requiring medical intervention in 3.4% and 1.1% of patients, respectively. In our study, percutaneous transthoracic needle biopsy of lung lesions showed high sensitivity and low degree of acute complications requiring an invasive solution. The risk of pleural recurrence after a biopsy was very low. Consequently, we continue to consider this method to be an alternative to bronchoscopy biopsies.

Analysis of Clinical Diagnosis and Treatment Modes for Congenital Branchial Cleft Anomalies.

The objective of this study was to investigate and assess the clinical data of 123 patients diagnosed with congenital branchial cleft anomalies (CBCAs), to summarize pivotal aspects concerning their clinical diagnosis and treatment process. The authors conducted a retrospective analysis of 123 patients who underwent surgical intervention for CBCAs at our institution between August 2005 and September 2021. The clinical demographic characteristics of the patients, primary symptoms, treatment chronology, preoperative diagnostic assessments, surgical strategies, occurrences of postoperative complications, and rates of recurrence were subjected to statistical analysis. Among the enrolled patients, there were 43 cases (34.9%) of congenital first branchial cleft anomalies (CFBCA), 76 cases (61.8%) of congenital second branchial cleft anomalies (CSBCA), and 4 cases (3.3%) of congenital third branchial cleft anomalies (CTBCA), with no cases of congenital fourth branchial anomalies (CFBA). Notably, among all cases, 43 anomalies were situated in the upper one-third of the sternocleidomastoid muscle, while 80 anomalies were located in the lower one-third. Different surgical approaches were selected for patients based on the specific type of anomaly presented. Following surgery, there was recurrence in 14 cases, with factors such as patient age, clinical categorization, lesion type, and history of preoperative infection and surgical intervention identified as primary risk factors for it. CBCAs represent comparatively uncommon disorders affecting the head and cervical regions in clinical practice. Diagnostic modes such as ultrasonography and lipiodol contrast radiography can be used for accurate diagnosis, with surgical intervention serving as the primary therapeutic method.

Anorectal avulsion-an unusual anorectal trauma

Anorectal avulsion is a rare trauma. In this type of lesion, the anus and the sphincter complex are pulled up by a tremendous compression of the pelvic floor. Frequently, this trauma is associated with other injured organs, like pelvic bones or urethra. We report a case of a young man who was admitted with a total anorectal avulsion associated with a pelvic fracture. A multidisciplinary treatment included external fixation of the broken pelvis, suprapubic cystostomy, sigmoid loop colostomy and reimplanting the anal complex in the original position with appropriate drainage. Anorectal injuries are uncommon and represent about less than 10% of rectal trauma, but anorectal avulsion is extremely rare. These cases often require a quick decision making and multidisciplinary approaches to reduce the possibilities of morbidity and mortality.

Pedunculated lipoma of the breast

Pedunculated lesions of the breast are usually benign conditions. They pose a clinical dilemma to the attending surgeon. Excision is the mainstay of treatment. A case of a pedunculated lipoma of the breast in a 52-year-old lady is presented. She underwent excision under general anesthesia. Histopathology revealed adult-type of adipocytes with no evidence of lipoblasts. There was no recurrence. Various types of pedunculated lesions of the breast, their diagnosis and management are discussed. Surgical excision is the mainstay of treatment. They have a low recurrence rate and are rarely malignant.

Hybrid operating room for the multidisciplinary treatment of a juvenile nasoangiofibroma at the “Dr. Eduardo Liceaga” general hospital of Mexico: case report and literature review

Nasoangiofibroma or juvenile nasopharyngeal angiofibroma is a highly vascularized benign neoplasm, which mainly affects men between the first and second decade of life. The incidence of this type of lesion is extremely rare and occurs in a 0.05 to 0.5% of all head and neck neoplasm, in which surgical treatment is considered the best treatment option. Treatment of this pathology in a hybrid operating room is considered a novel tool, to carry out an effective multidisciplinary intervention, granting better control of the procedure and hemostasis. The purpose of this publication is to describe the advantages of performing surgery in a hybrid operating room, as well as to conduct a literature review on this condition. Two cases are reported, a 14 and 16-years old male, both with a probable diagnosis of juvenile nasoangiofibroma. The surgical treatment was carried out in the hybrid operating room of the General Hospital of Mexico “Dr. Eduardo Liceaga” by the otorhinolaryngology and the oral and maxillofacial surgery department after embolization by the interventional radiology team.

Investigation of the abasic sites induced by hydrogen peroxide and methyl methanesulfonate in calf thymus DNA and BEAS-2B cells

The primary goals of this study were to investigate the formation of abasic sites (AP sites) induced by methyl methanesulfonate (MMS) and hydrogen peroxide (H2O2), and to characterize specific types of these pro-mutagenic DNA lesions in calf thymus DNA (CT-DNA), and BEAS-2B human lung normal cell line. Furthermore, these profiles were compared with those observed in leukocytes derived from healthy controls (HC), breast cancer patients (BCP) before treatment, and 5-year survivors. Results indicated that both H2O2 and MMS induced the concentration- and time-dependent formation of AP sites in CT-DNA. To characterize the specific types of AP sites induced by H2O2 or MMS, we performed AP site cleavage assay using putrescine, T7 exonuclease (T7 Exo), and exonuclease III (Exo III). Results showed that the AP sites induced by H2O2 in CT-DNA were predominantly 5’-and 3’-nicked AP sites and no intact AP sites were detected. By contrast, the majority of AP sites generated by MMS in CT-DNA are not excisable and are classified as residual and intact AP sites. Similar approaches were performed in human BEAS-2B cells and comparable observations were confirmed in the cell-based model. Further investigation indicated that the profile of the AP sites observed in Taiwanese HC is identical to that of BEAS-2B cells treated with H2O2 whereas the pattern of AP sites detected in BCP is similar to that of CT-DNA exposed to H2O2, suggesting that these AP sites were produced primarily through reactive oxygen species (ROS) generation. More than 70 % of the AP sites in leukocytes derived from BCP were 5’-nicked and residual AP sites. Furthermore, the characteristics of the AP sites detected in 5-year survivors are comparable with the ones in HC by using putrescine cleavage assay. Overall, we speculate that deficiency in the DNA repair cascade may play a role in mediating the formation of specific types of AP sites detected in BCP.

Ischemic Stroke in Adults With Congenital Heart Disease: Cumulative Incidence and Associated Factors.

When more patients with congenital heart disease reach adult age, increased incidence of long-term complications, including ischemic stroke, are expected. The aim of this study was to analyze cumulative incidence of ischemic stroke, associated factors, and case fatality in adult congenital heart disease. The study is based on Swedish national registers on congenital heart disease and stroke. Patients with congenital heart disease were followed between 2001 and 2018 for first-ever ischemic stroke events (ischemic stroke due to patent foramen ovale excluded). Factors possibly associated with ischemic stroke were analyzed using Cox regression models. Out of 8914 adult patients with congenital heart disease, 108 suffered ischemic stroke over a mean period of 7.6±4.7 years. The mean age at ischemic stroke was 53.8 years, and the cumulative incidence was 0.15% at 1 year, 0.5% at 5 years, and 1.5% at 10 years. In multivariable analysis, age (hazard ratio [HR], 1.04 [95% CI, 1.03-1.06]), diabetes (HR, 2.9 [95% CI, 1.3-6.4]), ejection fraction <50% (HR, 1.9 [95% CI, 1.1-3.4]), atrial septal defect (HR, 3.0 [95% CI, 1.03-8.5]), and aortic valve lesions (HR, 4.8 [95% CI, 1.6-14.1]) were associated with increased risk. Among those with ischemic stroke, approximately half were on antithrombotic treatment (anticoagulants or antiplatelets) before admission. Case fatality was 6.5%. The cumulative incidence of ischemic stroke was 1.5% after 10 years. In adult congenital heart disease, the type of heart lesion, diabetes, ejection fraction <50%, and age were important factors associated with ischemic stroke. Despite a relatively young age, mortality is a significant threat. At time of the ischemic stroke event, approximately half of the patients were on antithrombotic treatment.

First report of Rhizoctonia blight caused by Rhizoctonia solani on Chinese cabbage (Brassica rapa subsp. chinensis) in India.

During January and February 2021, foliar blight symptoms were observed on the leaves of Chinese cabbage (Pak choi) at Lembucherra research farm, College of Agriculture, Tripura, India. The incidence of disease symptoms ranged from 5 to 10% of the plants observed in the field. The symptomatic leaves showed grayish colored water-soaked lesions with an irreguar shape and size. A total of 10 symptomatic leaves (1 leaf per plant) from Chinese cabbage infected plant were sampled, surface decontaminated with 1% NaOCl, washed twice in sterile water, plated on 2% water agar, and incubated at 25 ± 2°C. Hyphal tips from mycelium of 7-day old culture (2 isolates from two different plants) with right-angled branching were transferred to potato dextrose agar (PDA) media (SRL, India). Cream or light brown hyphae that branched at right angles, with septa near the point of the origin of hyphae, and a slight constriction at the base of the branch) were visible under a microscope. Olive-brown sclerotia were observed after 5 days of incubation. Multiple nuclei per cell were visible after staining with 4', 6-diamidino-2-phenylindole (Estandarte et al. 2016). Based on morphological characteristics (Parmeter et al. 1970) the isolates TP36 and TP37 were identified as Rhizoctonia solani. The internal transcribed spacer (ITS) region and glyceraldehyde-3-phosphate dehydrogenase gene (GAPDH) were amplified with ITS1& ITS4 (White et al. 1990) and (GAPDH F-5'- CAAGGAGAACCCAGGTGTTAAG-3' and GAPDH R- 5'-GGCGTCGAAGATAGAAGAGTGT-3') respectively for both isolates and sequenced (accession #. PP458158, PP458159, PP425343, PP425344). BLASTn analysis showed 99.26%( 668/673 nt) to 99.46% (659/664 nt) identity with R. solani sequences (GenBank MG397062.1 and KX674524.1) for ITS and 98.42% (552/562 nt) to 100% 540/540 nt)identity with R. solani sequences (GenBank HQ425709.1 and CP102644.1) for GAPDH. Isolates TP36 and TP37 were deposited in the Indian Type Culture Collection (ITCC), New Delhi as R. solani (nos. 9154 and 9319, respectively). Both isolates were amplified using (anastomosis group) AG1 subgroup specific primers (Matsumoto 2002; Prashantha et al. 2021) to identify their AG. The presence of a 265 bp amplicon for both isolates suggested that they belong to AG1-IA. A multilocus analysis of R. solani isolates from different host plants with concatenated sequences ITS and GAPH showed that TP36 and TP37 are closely related to rice isolate RS107. A pathogenicity test on five plants per treatment was conducted and repeated twice on one month old Chinese cabbage plants (hybrid, TOKITA, India) grown under glasshouse conditions in a sterilized mixture of soil and sand (3:1) at 27-28oC during January 2024 at ICAR-IARI, New Delhi. R. solani isolates TP36 and TP37 were grown on PDA and plants were inoculated by placing single sclerotia of 10-day old colony on different plant parts and covering it with moist cotton. After 7 day, typical lesions of R. solani infection were visible. No symptoms were observed on the control plants. The fungus was reisolated from the inoculated plants and identified as R. solani based on morphology. R. solani has previously been reported to cause disease on some members of Brassicaceae in different countries (Budge et al. 2009; Hua et al. 2014). Based on literature available this is the first report of R. solani infecting Chinese cabbage in India.

Prevalence of Radiolucent and Radiopaque Jawbone Lesions Using Panoramic Radiographic Analysis in Hail, Saudi Arabia: A Retrospective, Cross-Sectional, Observational Study.

Background Oral diseases are among the most prevalent public health issues worldwide, underscoring the importance of early diagnosis and effective prevention programs. Determining the prevalence of jawbone lesions is crucial for developing targeted interventions and ensuring timely treatment. Panoramic radiography, also known as orthopantomogram, has become a cornerstone in radiographic examinations, offering a comprehensive view of the dental and maxillofacial regions. Its accessibility and ability to detect a wide range of pathologies make it an invaluable diagnostic tool. This study aimed to assess the prevalence and distribution of radiolucent and radiopaque jawbone lesions in the population of Hail, Saudi Arabia, using panoramic radiographic analysis. Methodology A retrospective, cross-sectional study was conducted using pre-existing panoramic radiographs of individuals aged 18 years and older in Hail, Saudi Arabia. The radiographs were analyzed for the presence of jawbone lesions, classified as radiolucent, radiopaque, or mixed, and their anatomical distribution was recorded. Statistical analysis was performed using the chi-square test, with a significance level set at p-values <0.05. Results A total of 389 jawbone lesions were identified in 177 subjects, representing a prevalence of 45.5%. Radiolucent lesions were the most common, observed in 153 (39.3%) subjects, while radiopaque lesions were found in 18 (4.6%) subjects, and mixed lesions in six (1.5%) subjects. The mandible was more frequently affected than the maxilla, with 104 (59%) lesions occurring in the mandible and 52 (29%) lesions in the maxilla. The posterior region of the jaw was the most commonly involved site, accounting for 124 (31.9%) cases. Gender and age did not significantly influence the prevalence or type of lesions, although a higher incidence was noted in the 31-45-year age group. Conclusions This study revealed a significant prevalence of jawbone lesions in the Hail population, with radiolucent lesions being the most common type, predominantly affecting theposterior region of the mandible. The findings highlight the importance of early detection and targeted dental health initiatives in this region. Further research, particularly longitudinal studies, is recommended to explore the natural history of these lesions and their impact on oral health over time.

Early Disease-Modifying Treatments for Presymptomatic Multiple Sclerosis.

Radiologically isolated syndrome (RIS) is the earliest stage in the disease continuum of multiple sclerosis (MS). RIS is discovered incidentally in individuals who are asymptomatic but have typical lesions in the brain and/or spinal cord suggestive of demyelination. The2009 and revised 2023 RIS criteria weredeveloped for diagnosis.Presymptomatic individuals who fulfill the 2009 RIS criteria by having 3-4 of 4 dissemination in spaceMcDonald 2005 MS criteria are still diagnosed with RIS using therevised 2023 RIS criteria.Inpresymptomatic individuals who do not fulfill the 2009 RIS criteria, the revised 2023 RIS criteria target to secure an accurate and timely diagnosis: In addition to (a) having one lesion in two of four locations (periventricular, juxtacortical/cortical, infratentorial, spinal cord), (b) two of three features (spinal cord lesion, cerebrospinal fluid (CSF)-restricted oligoclonal bands, and new T2 or gadolinium-enhancing lesion) should be fulfilled. Among laboratory biomarkers,CSF kappa-free light chain can also increase diagnostic accuracy. Once the diagnosis is confirmed, the established risk factors, including demographics, imaging, and laboratory biomarkers, should be evaluated for symptomatic MS transition and prognosis. Younger age, male sex, increased neurofilament-light chain, CSF abnormality, and the presence of infratentorial, spinal cord, or gadolinium-enhancing lesions on imaging are the main risk factors for transition to symptomatic MS. Two randomized clinical trials showed significant efficacy of disease-modifying treatments in delaying or preventing the development of the first clinical event in RIS. However, because some individuals remain as RIS, it is crucial to identify the individuals with a higher number of risk factors to optimize disease outcomes by early intervention while minimizing adverse events. Discussing each RIS case with an expert MS team is recommended because there is still a lack of clinical guidelines to improve care, counseling, and surveillance.

Correlation of Endoscopic and Histopathological Diagnoses in Upper Gastrointestinal Tract Lesions: A Cross-Sectional Study.

Introduction Gastrointestinal tract (GIT) endoscopy with biopsy is essential for diagnosing and managing various GIT diseases, including malignancies and inflammatory conditions. This study aimed to analyze the spectrum of histopathological lesions in the GIT and their correlation with the endoscopic findings. Methodology This retrospective observational study was conducted at a tertiary medical college involving 114 patients who underwent GIT endoscopy between June 2023 and June 2024. This study focused on lesion types across different GIT sites (esophagus, stomach, and duodenum) and the agreement between endoscopic and histological diagnoses. Results Lesions were most prevalent in the stomach (52.6% of cases, n=60), followed by the duodenum (35.1%, n=40) and esophagus (12.3%, n=14). Significant correlations were found between endoscopic and histological diagnoses in the esophagus (concordance for esophagitis was 100%) and stomach (concordance for gastritis was 95%). In the duodenum, the concordance was high for duodenitis (100%) but lower for other lesions such as neuroendocrine tumors (71.43%). However, Cohen's kappa values indicated poor overall agreement across all sites (κ=0.49), reflecting variability in diagnostic accuracy. Conclusion This study highlights the reliability of endoscopic procedures for diagnosing upper GIT lesions, particularly in the esophagus and stomach, while emphasizing the challenges in diagnosing duodenal lesions. These findings support the need for targeted screening and further research to enhance diagnostic accuracy and patient outcomes in GIT diseases.

Classification of Human Monkeypox with by Fuzzy C-Means Algorithm Using Image Processing Methods and Haralick Texture Parameters

Aim: Human monkeypox can cause skin lesions in the form of blisters of different shapes on various parts of the body. Due to the fact that the skin lesions caused by human monkeypox have a very similar appearance to lesions caused by chickenpox and measles, the study includes images of chickenpox and measles as well as images of human monkeypox. The aim of this study is to distinguish human monkeypox virus skin lesion images from other viral diseases with similar images. Methods: For this study, the Monkeypox Skin Lesion Dataset, which consists of binary classification data for monkeypox and non-monkeypox (chickenpox, measles) skin lesions, is accessed from the Kaggle.com website. In total, 228 images are processed, with 101 images in the monkeypox group and 127 images in the non-monkeypox group. The images in the Monkeypox Skin Lesion Dataset are processed using image analysis methods and Haralick texture parameters are calculated to create 13 different features for each image. For the classification process in the statistical analysis part of the study, Fuzzy C-Means algorithm is used. Results: The images used in the study belong to individuals with varying skin tones and from different parts of the body, and the algorithm provides encouraging results in determining the type of skin lesions in the images. The overall classification accuracy rate is 61.8%, and the highest accuracy (76.2%) is achieved in the monkeypox class. Conclusion: This study demonstrates that images of viral diseases with similar skin lesions can be classified using various image processing techniques and different statistical methods.

Mucopolysaccharidosis Type I (Hurler – Scheie Syndrome): Case Report

Background. Mucopolysaccharidosis type I (MPS I) is an inherited disease caused by pathogenic variants in the IDUA gene, which encodes the lysosomal enzyme alpha-L-iduronidase. This clinical case demonstrates the importance of diagnosing rare diseases when patients have phenotypic features indicating hereditary pathology presence. Phenotype changes can be so-called “red flag” that helps specialists suspect and diagnose lysosomal storage diseases. Clinical case description. The patient was observed with delayed psychomotor development; she also had hepatomegaly and on auscultation of the heart there was a functional systolic murmur above the apex and in the Botkin–Erb point on heart auscultation. Coarse “garholoid” facial features attracted attention at external examination: large nose, wide sunken nose bridge, macroglossia, thick lips, synophrysis, scaphocephaly, wide chest, and flat-valgus feet. Echocardiography has revealed mitral valve insufficiency and hardened valve leaflets. Ophthalmologist examination: hypermetropic astigmatism. Psychiatrist examination: mental and speech development delay. Enzymatic diagnostics: significant decrease in alpha-Liduronidase activity. No further examinations were carried out due to the onset of the COVID-19 epidemic and parents' doubts about the diagnosis. The patient was readmitted to the hospital at the age of 6 years due to aggravation of her condition. A molecular genetic study has revealed two pathogenic variants in the IDUA gene. Diagnosis of MPS I was established according to the clinical data, results of biochemical and molecular genetic studies. Conclusion. This clinical case demonstrates the classic course of MPS I with typical phenotypic signs and lesions in various organs and systems. The presented case demonstrates the importance of professional vigilance among doctors of various specialties regarding orphan diseases.

Clinical characteristics of pyoderma gangrenosum: Case series and literature review.

Pyoderma gangrenosum (PG) is a neutrophilic skin disease characterized by recurrent painful cutaneous ulcers, often accompanied by inflammatory bowel disease, joint pain, and other systemic damage. This disease is relatively rare in clinical practice and its diagnosis and treatment are often delayed, leading to secondary infections in the skin lesions, prolonged disease course, and increased disease burden on patients. This study retrospectively analyzed the clinical characteristics and treatment strategies of patients with PG admitted to our hospital and conducted a literature review, in order to improve the understanding of the disease among clinical doctors, enable patients to receive better diagnosis and treatment, and ultimately improve patient prognosis. Clinical data of patients diagnosed with PG and hospitalized in Beijing Chaoyang Hospital, Capital Medical University from January 2014 to December 2022 were retrospectively collected. The clinical manifestations, treatment strategies, efficacy, and disease outcomes were analyzed. A total of 14 patients, including 8 males and 6 females, aged 14 to 66 years, were included. Skin lesion types: 13 cases were ulcer-type, 1 case was pustule combined with ulcer-type, and the lower limbs were the most commonly affected areas. All the 14 patients presented with comorbidities. All patients were treated with glucocorticoids, with a daily dose equivalent to 20 to 100 mg prednisone and a median dose of 40 mg. Among them, 3 patients were treated with minocycline in combination, 1 patient was treated with mycophenolate mofetil 0.5 twice daily in combination, 1 patient was treated with cyclophosphamide 0.1 once daily in combination, and 1 patient was treated with thalidomide 0.1 every night in combination. PG is a relatively rare immune-related skin disease. Our small sample data analysis found that male PG is not uncommon in the Chinese population. Systemic glucocorticoids can quickly control the symptoms of PG in most patients with PG. In patients with poor efficacy or limited use of glucocorticoids, immunosuppressive drugs or novel targeted drugs such as biologics or small-molecule drugs should be used in combination as early as possible. Skin lesion care focuses on preventing infection, avoiding surgical debridement, and emphasizing pain management and the symptomatic treatment of comorbidities.

Perceptions, attitudes, and clinical experiences of Brazilian dental practitioners towards molar incisor hypomineralisation: a cross-sectional study.

To evaluate perceptions, attitudes, and clinical experience of Brazilian dental practitioners regarding molar incisor hypomineralisation (MIH). An online survey with 27 questions, covering professional profile data, perceptions, and knowledge on clinical management of MIH, was employed. Descriptive analyses, chi-square, Fisher's exact, and Cramer's V tests were used. Sample comprised 100 participants, equally distributed between those working in private or public sectors. Most private sector practitioners had 21-30years of clinical experience (28%) and master's degree (50%), while most public sector practitioners had 11-20years of clinical experience (32%) and a PhD degree (32%). Most participants (86%) recognized MIH in their practice. Statistically significant differences were observed in frequency (p = 0.001), incidence (p = 0.039), and lesion type (p = 0.043) between practitioners from both sectors. Uncertainly in management was reported by 49%, mainly in public sector. For mild MIH in incisors, no treatment was chosen (43%), and the treatment longevity was the only significant factor reported (p = 0.012). In cases of mild MIH in first permanent molars (FPMs), 51% of respondents opted to keep the affected tissue and apply fissure sealant. Glass ionomer (GI) restoration was commonly indicated for FPMs with severe MIH with moderate loss of structure and sensitivity (38%). In cases with substantial structural loss and pulpal involvement, the most chosen treatment was endodontic intervention combined with preformed crowns. Brazilian dental practitioners face MIH in clinical practice. Although, public sector professionals are less confident in diagnosis and treatment, no significant differences in treatment preferences between public and private sector dental practitioners were identified.

Diabetic Retinopathy Lesion Types and Distribution on Ultrawide Field Imaging and the Risk of Disease Worsening Over Time.

To evaluate the effect of diabetic retinopathy (DR) lesion type [hemorrhages and/or microaneurysms (H/Ma), intraretinal microvascular abnormalities (IRMA), new vessels elsewhere (NVE), venous beading], severity and distribution on disease worsening based on the Early Treatment Diabetic Retinopathy Study (ETDRS)-Diabetic Retinopathy Severity Scale (DRSS). Post-hoc analysis of a multi-center observational study of 544 eyes with nonproliferative DR and an ETDRS-DRSS score of Level 35-53. Disease worsening was defined as ETDRS-DRSS worsening by ≥2 steps from baseline or receipt of DR treatment over 4 years. DR lesions were evaluated based on the entire visible area in the ultrawide field color (UWF-color) and UWF-fluorescein angiography (UWF-FA) images. A significantly greater risk of disease worsening was associated with the presence of more severe lesion grades outside the ETDRS fields for H/Ma (HR:1.74 [95% CI:1.28-2.36]) on UWF-color; and for H/Ma (1.90 [1.38-2.61]), IRMA (1.68 [1.13-2.49]), and NVE (1.99 [1.36-2.93]) on UWF-FA. These results suggest that features on UWF-color and UWF-FA may provide additional prognostic value in determining the risk of disease worsening. The use of UWF-FA improves identification of DR lesions and disease progression. However, the optimal method of disease risk assessment on UWF imaging still needs to be determined.

High-Risk HPV Detection in Paraffin-Embedded Tissue from Cervical Lesions.

Human papillomavirus (HPV), a leading cause of cervical cancer, is present in most cases of the disease and ranks as the fourth most common cancer in women globally. Among the HPV types, fourteen (HPV 16/18/31/33/35/39/45/51/52/56/58/59/66/68) are recognized as high-risk (hrHPV), each with varying levels of oncogenic potential. Detecting and genotyping these hrHPV types in cervical lesions is crucial, requiring the development of new diagnostic methods. This study focuses on a retrospective analysis conducted on 44 women from the Cova da Beira Local Health Unit. We used the Anyplex™ II hrHPV Detection kit for hrHPV genotyping from paraffin-embedded cervical tissue samples. hrHPV types were identified in 38 out of the 44 women. Genotyping revealed HPV-16 (55.3%), HPV-18/39/56/58/59 (5.3%), HPV-31 (21.1%), HPV-35 (7.9%), HPV-51/66 (2.6%), and HPV-52 (10.5%). This study demonstrates that the Anyplex™ II hrHPV Detection kit, originally designed for cervical cancer screening, is also effective for hrHPV genotyping in histological analyses. This methodology offers a simpler and more cost-effective approach for cervical cancer risk stratification. Its implementation in clinical practice could enhance the detection of hrHPV in cervical lesions, thereby contributing to more precise diagnoses and potentially more informed treatment strategies.