Clinical Diagnosis Research Articles

Plasma DNA methylation detection for early screening, diagnosis, and monitoring of esophageal adenocarcinoma and squamous cell carcinoma

BACKGROUND The early diagnosis rate of esophageal cancer (EC), one of the most prevalent digestive tract cancers worldwide, remains low. AIM To investigate the utility of plasma SHOX2 , SEPTIN9 , EPO , and RNF180 methylation in the clinical diagnosis and monitoring of EC. METHODS Plasma samples were collected from 210 patients at Hubei Cancer Hospital, and TaqMan polymerase chain reaction was employed to detect plasma SHOX2 , SEPTIN9 , RNF180 , and EPO methylation. The area under the curve was used to estimate their diagnostic value for EC. Cox and logistic regression analyses were used to estimate the independent screening risk factors for patients with EC. RESULTS The sensitivity and specificity of combined assessment of plasma SHOX2 , SEPTIN9 , RNF180 , and EPO methylation for adenocarcinoma, squamous cell carcinoma (SCC), and EC detection were 66.67% and 86.27%, 77.40% and 85.29%, and 76.19% and 86.27%, respectively; the area under the curve values for diagnosing adenocarcinoma, SCC, and EC were 0.737 [95% confidence interval (CI): 0.584–0.89], 0.824 (95%CI: 0.775–0.891), and 0.864 (95%CI: 0.809–0.92), respectively. CONCLUSION According to our findings, plasma SHOX2 , SEPTIN9 , RNF180 , and EPO methylation exhibits appreciated sensitivity for diagnosing EC. The precise measurement of plasma SHOX2 , SEPTIN9 , RNF180 , and EPO methylation can improve EC diagnosis and therapy efficacy monitoring.

The value of differential diagnosis of post-reflux swallow-induced peristaltic wave index between esophageal diseases of gut-brain interaction and gastroesophageal reflux disease

Objective: To analyze the value of differential diagnosis of post-reflux swallow-induced peristaltic wave index (PSPWI) between esophageal diseases of gut-brain interaction (E-DGBI) and gastroesophageal reflux disease (GERD). Methods: The patients diagnosed as E-DGBI and GERD in the Department of Gastroenterology, Beijing Tsinghua Changguang Hospital from June 2016 to June 2018 were retrospectively included. The medical records, gastroscopy and 24-hour pH-intraluminal impedance monitoring reports were collected. According to clinical diagnosis, the patients were divided into E-DGBI group and GERD group. PSPWI, acid exposure time (AET), DeMeester score, total reflux times and mean nocturnal baseline impedance (MNBI) were compared between the both group. The receiver operating characteristic curve (ROC) of PSPWI, AET, total reflux times and MNBI was drawn to identify the sensitivity and specificity of E-DGBI and GERD. The cut-off values were calculated with Youden index and the area under the curve (AUC) was compared. Results: A total of 73 patients were included,including 36 males and 37 females, whose age [M (Q1, Q3)] was 54.0 (42.6, 63.0) years. There were 39 cases in E-DGBI group and 34 cases in GERD group. The 24-h AET [0.5 (0.1, 1.6) vs 6.0 (3.6, 11.9)], DeMeester score [2.8 (1.1, 5.7) vs 20.4 (14.7, 47.4) score] and total reflux times [32.0 (19.0, 53.0) vs 66.0 (34.3, 96.0) times] were significantly higher in E-DGBI group than those in GERD group (all P<0.001);MNBI in E-DGBI group was higher than that in GERD group[2 375.0 (1 726.0, 2 978.0)Ω vs 1 361.0 (814.0, 2 273.5)Ω, P<0.001]. The PSPWI in E-DGBI group is higher than that in GERD (0.56±0.19 vs 0.25±0.15, P<0.001). According to ROC, with PSPWI>0.46 as the cut-off value, the AUC was 0.895 (95%CI: 0.827-0.963) in differentiating E-DGBI and GERD. The sensitivity was 94.1% and the specificity was 69.2%. There were no significant differences of AUC between PSPWI and AET or total reflux events (all P>0.05). But the AUC of PSPWI was higher than that of MNBI (AUC=0.749,95%CI:0.632-0.866,P=0.031). Conclusion: PSPWI can better distinguish E-DGBI from GERD.

Assessment of podocyte detachment as a pivotal step in the development of focal segmental glomerulosclerosis

Abstract Background Podocytopenia refers to a decrease in the number of podocytes. When podocytes are injured, they may detach leading to podocytopenia, which represents a critical step in the development of podocytopathy and subsequently deterioration of renal functions. Pathological assessment of podocytopenia plays a crucial role in diagnosing underlying kidney diseases. Aim To assess detached podocytes and evaluate their diagnostic role in the development of focal segmental glomerulosclerosis. Materials and methods This is a retrospective study, conducted on 67 archival renal biopsies with the clinical diagnosis of steroid-resistant or steroid-dependent nephrotic syndrome (SRNS) and diagnosed as focal segmental glomerulosclerosis (FSGS) and podocytopathy with detached podocytes by electron microscopy (EM). Colloidal iron stain and Desmin immunohistochemical stain were performed. Assessment of the mean percent of stained pixels in relation to the surface tuft area of the glomerulus, i.e., mean percent of stained area (PSA) was done using image analysis system (ImageJ 1.52a) software. Results Podocytopathy with detached podocytes was diagnosed in 35 (52.24%) cases, while FSGS was diagnosed in 32 (47.76%) cases. Regarding detached podocytes, 27 (49.3%) cases showed no detached podocytes by light microscopy (LM), while only 4 (6%) showed severe podocyte detachment. There was a statistically significant difference between control cases and both podocytopathy with detached podocytes and FSGS regarding mean PSA (p ≤ 0.001). Conclusion Standardized reporting of detached podocyte cells is becoming mandatory as they have a high positive predictive value for the expected EM picture.

Self-identification of autism: Why some autistic adults lack a clinical diagnosis and why this matters for inclusion

Autism research and services have historically focused on individuals with a formal autism diagnosis. However, activists and self-advocates in the United States recognize that there are financial and clinical barriers impeding access to formal diagnostic evaluations for autism. Research also suggests that groups on the margins of autism, specifically those who are not White, young, or assigned male at birth, receive later diagnoses, if diagnosed at all. In particular, individuals who are autistic and LGTBQ+ are likely to not be afforded opportunities to be assessed and diagnosed. We conducted interviews with 65 queer and transgender autistic adults who either self-identified as autistic or had a formal autism diagnosis about their experiences with and perceptions of autism diagnosis. We found that participants derived a sense of meaning and affirmation from their autistic diagnosis and/or identity, faced significant barriers and deterrents to diagnosis, and experienced invalidation as both a barrier to and product of diagnosis. We argue that self-identified autistic individuals provide valuable context and data for many of the social processes and preferences reported by autistic people. We offer recommendations for research and services, specifically that many should not require formal autism diagnoses of participants. Lay abstract Most autism research and services focus on individuals with formal autism diagnoses. However, autism activists and self-advocates have raised awareness about the challenges that can prevent individuals from seeking or getting an autism diagnosis. We interviewed 65 queer and transgender adults who either self-identified as autistic without a formal diagnosis or who had a formal autism diagnosis. We found that participants made meaning of their autistic diagnosis and/or identity and found affirmation in this, faced significant barriers and deterrents to getting diagnosed, and experienced invalidation as both a barrier to and product of diagnosis. Due to the challenges that individuals face in getting a diagnosis, we recommend that researchers and advocates consider including self-identified autistic individuals in research and services.

Deficiency of FABP7 Triggers Premature Neural Differentiation in Idiopathic Normocephalic Autism Organoids

AbstractAutism spectrum disorder (ASD), which is caused by heterogeneous genetic and environmental factors, is characterized by diverse clinical phenotypes linked to distinct pathological mechanisms. ASD individuals with a shared clinical phenotype might contribute to revealing the molecular mechanism underlying ASD progression. Here, it is generated induced pluripotent stem cell (iPSC)‐derived cerebral organoids from normocephalic individuals with ASD in a prospective birth cohort with a shared clinical diagnosis. Multiple cell lines and time series scRNA‐seq combined with a histomorphological analysis revealed premature neural differentiation of neural stem cells (NSCs) and decreased expression of Fatty acid binding protein 7 (FABP7) in ASD organoids. It is subsequently revealed alterations in the phosphorylation levels of Mitogen‐Activated Protein Kinase Kinase 1/2 (MEK1/2), which are downstream of FABP7, and the regulation of the FABP7/MEK pathway reversed improper neural differentiation in the ASD organoids. Moreover, both Fabp7‐knockdown and MEK2‐overexpressing mice exhibited repetitive stereotyped behaviors and social defects relevant to autism. This study reveals the role of the FABP7/MEK pathway in abnormal NSC differentiation in normocephalic individuals with ASD, which might provide a promising therapeutic target for ASD treatment.

Role of gut microbiome in developing necrotizing enterocolitis.

Necrotizing enterocolitis (NEC) is one of the most devastating intestinal diseases observed in preterm in the first days of life. Researchers have recently focused on potential predictive biomarkers for early and concomitant diagnoses. Thus, we inquired about the linkage of intestinal dysbiosis, one of the most important factors in NEC development to the gut microbiota. In this study, the systematic differences in the bacterial composition between neonates affected by NEC and healthy newborns were highlighted by metagenomic analysis. The next-generation sequencing of the V3-V4 variable region of the 16S rRNA gene and gene-specific qPCR analyzed the untargeted gut microbiota. Total bacteria, total and fecal coliform loads in stool samples with NEC were higher than control. OTU-level relative abundances of NEC infant was characterized by Firmicutes and Bacteroidetes at phylum levels. At the genus level, NEC stool was identified by the lack of Klebsiella and the presence of Roseburia, Blautia, and Parasutterella. Finally, Clostridium fessum was the predominant species of Clostridium genus in disease and healthy specimens at the species level, whereas Clostridium jeddahitimonense was at NEC diagnosis. Despite a strong relationship between pathophysiology and characterization of gut microbiota at a clinical diagnosis of NEC, our results emphasize the broad difficulty in identifying potential biomarkers.

EP300‐interacting inhibitor of differentiation 3 is required for spermatogenesis in mice

AbstractBackgroundMammalian spermatogenesis is a highly complex process of cell proliferation, meiosis, and differentiation. A series of genes are expressed in an orderly and precise manner to ensure spermatogenesis, with chromatin undergoing intricate changes throughout. EP300‐interacting inhibitor of differentiation 3 (Eid3) is a testis‐enriched gene, but its role in male reproduction remains unclear.ObjectiveTo investigate the role of EID3 in male spermatogenesis and explore the potential underlying mechanism.Materials and MethodsWe generated Eid3 knockout mouse model using the CRISPR‐Cas9 system. We measured the expression of EID3 in mouse tissues and testicular cell populations by qRT‐PCR and western blot. Histological analysis, including hematoxylin and eosin (H&amp;E) and periodic acid‐Schiff (PAS) staining, together with computer‐assisted sperm analysis (CASA), were performed to evaluate the effect of EID3 on spermatogenesis in mice. Light and ultrastructural microscopy were used to evaluate the morphology and structure of the Eid3−/− spermatozoa. We used western blot and immunofluorescence to further analyze the function of EID3 in spermiogenesis.ResultsEid3−/− mouse showed a significant decrease in sperm count, motility, and morphology. Loss of EID3 impaired the normal meiotic process and induced apoptosis of abnormally developing spermatocytes, ultimately resulting in the decrease of sperm cell number. Additionally, EID3 deficiency led to a decrease in histone acetylation levels in spermatids, impaired histone‐to‐protamine transition and chromatin condensation process, and ultimately resulted in abnormal sperm morphology.Discussion and ConclusionsThis study confirms for the first time that EID3 is crucial for meiosis and chromatin condensation during spermatogenesis, and EID3 deficiency leads to a significant decrease in sperm parameters. Given the high expression paradigm of Eid3 in human testis, EID3 likely plays a role in human reproduction. Future research could provide a new target for the clinical diagnosis and treatment of male infertility.

Usefulness of spontaneous drawing in the diagnostic guidance of pediatric patients with headache

The diagnosis of headache in children can be challenging due to its clinical variability and inability to verbalize certain symptoms. The use of drawing has been proposed to overcome these difficulties. The objective was to evaluate drawing as a diagnostic tool in primary headaches. Cross-sectional and descriptive study to assess the agreement between the 'artistic' diagnosis of headache and the clinical diagnosis. We consider an artistic diagnosis to be the one issued after reviewing the drawing of the patient that was made by a neuropediatrician and two neurologists who are experts in headache. The clinical diagnosis would be the classic diagnosis made in consultation after a complete history and examination in consultation and was issued by another neuropediatrician. We included 132 patients/drawing (61.1% girls; mean age 12 years) with clinical diagnoses of: migraine (59.1%), tension headache (38.2%), and other headaches (trigeminal autonomic and nummular) (2.7%). The agreement between the artistic and clinical diagnoses in migraine and tension headache was 78.5% and 78.6%, respectively when the drawings were evaluated by a neuropediatrician. This agreement was similar for the migraine drawings assessed by both neurologists (76.3% and 83.6%), but not in the case of tension headache (35.1% and 48.4%). The agreement between neurologists was moderate and similar in both types of headaches (migraine: k 0.51; tension headache: k 0.50). Headache drawing is a useful instrument in the differential diagnosis of migraine. We suggest its inclusion in the initial diagnostic evaluation of headache in children.

The diagnostic value of peripheral blood lymphocyte testing in children with infectious mononucleosis.

To investigate the diagnostic value of peripheral blood lymphocyte testing in children with infectious mononucleosis (IM). A total of 135 children with IM as the IM group and 100 healthy volunteers as the healthy group were included in this retrospective study. Peripheral blood lymphocyte subsets marked as CD3+, CD4+, CD8+, CD16 + CD56+, and CD19 + in the peripheral blood were quantified using flow cytometry. Statistical analysis was performed using the chi-square test, Kruskal-Wallis test, AUROC curve, and Kappa consistency test to assess the diagnostic value of these markers in IM. The AUROC curve for CD8 + cells and for CD4+/CD8 + ratios both achieved a value of 1 with the sensitivity and specificity of 100% (P<0.001). The Kappa coefficients were 1 for CD8+, CD4+/CD8 + ratios and the combined EBV analysis, indicating a 100% consistency with the clinical diagnosis. Significant differences were also observed in the CD3+, CD4+, CD16 + CD56+, and CD19 + lymphocyte subsets between the IM group and the healthy group (P<0.05). The evaluation of CD8 + and CD4+/CD8 + ratios in peripheral blood lymphocytes represents a significant advancement in the diagnosis of IM. Peripheral blood lymphocyte testing offers a reliable, sensitive, and specific diagnostic tool to enhance the clinical management of children with IM.

Identification of risk factors for necrotizing enterocolitis in twins: a case-control matching analysis of over ten-years' experience.

The identification of risk factors is crucial for the clinical prevention and diagnosis of necrotizing enterocolitis (NEC). Monochorionic twins (MCT), due to the high genetic homogeneity, provided a valuable model for investigating the risk factors of various diseases. This study aimed to explore the risk factors for NEC using MCT. A retrospective review was conducted on the medical records of monochorionic twins (MCT) treated at Guangzhou Women and Children's Medical Center from January 2012 to March 2023. We compared perinatal condition, feeding and preceding condition between MCT pairs with NEC (NEC MCT) and without NEC(No NEC MCT).Logistic regression analysis was utilized to identify independent risk factors. In 85 pairs of monochorionic twins (MCT), NEC occurred in one twin in 78.8% of cases, whereas both twins were affected in 21.2% of cases. In the final cohort of 60 pairs of MCT, several parameters were found to differ significantly between NEC MCT group and No NEC MCT group. Compared to No NEC MCT group, the incidence of umbilical cord abnormalities was significantly higher in the NEC MCT group (25% vs. 8.3%, P = 0.014). Meanwhile, NEC MCT group showed higher prevalence of SGA infants (48.3% vs. 21.7%, P = 0.002) and sFGR (38.3% vs. 6.7%, P = 0.000). Furthermore, TTTs (13.3% vs. 3.3%, P = 0.027) and septicemia (25% vs. 5%, P = 0.002) were more common in NEC MCT group. In a multivariable logistic regression model, sFGR (OR 6.81,95%CI 2.1-21.9, p = 0.001) was eventually output as an independent risk factor. Non-genetic factors play a predominant role in the pathogenesis of NEC. Umbilical cord abnormalities, SGA, sFGR, TTTs and septicemia significantly increase the risk of NEC. sFGR is an independent risk factor of NEC.

ANÁLISE DOS EFEITOS DA ELETROESTIMULAÇÃO SACRAL VERSUS AO MAT PILATES NO TRATAMENTO DA INCONTINÊNCIA URINÁRIA DE URGÊNCIA EM MULHERES CLIMATÉRICAS

Introduction: Urge urinary incontinence is a type of involuntary loss of urine that occurs due to a sudden and strong need to urinate, which is difficult to inhibit. It is currently known that the incidence of urinary incontinence is higher during the climacteric period and that aging itself is an important risk factor for the problem itself. Objective: To compare the effects of Mat Pilates and Sacral Electrostimulation as therapeutic approaches for urgency urinary incontinence. Method: 20 volunteers participated in this research, aged between 45 and 55 years, with a clinical diagnosis of urgency urinary incontinence. For data collection, the questionnaire for Sample Characterization, the International Incontinence Questionnaire (ICIQ-SF) and the Voiding Diary were used. Results: Regarding the characterization of the sample, the groups were homogeneous among themselves. In the Impact of Incontinence (ICIQ) both groups showed significant improvement, suggesting that the therapies are equivalent. In the Voiding Diary, there was a significant intragroup improvement in urgent need to urinate and involuntary loss of urine for both treatments. Conclusion: These results indicate that both Sacral Electrostimulation and Mat Pilates had positive effects in reducing urgency urinary incontinence, with both methods showing similar improvements.

In Situ Treatment of Refractory Perianal Fistulas in Dogs with Low-Dose Allogeneic Adipose-Derived Mesenchymal Stem Cells

Stem cell therapy in dogs has increased considerably in recent years; however, there are few publications on the treatment of perianal fistulas (PF) in this species. The aim of this open-label clinical trial was to demonstrate the efficacy and safety of a new protocol for the in situ administration of low-dose adipose-derived allogeneic stem cells (ASCs) for the treatment of refractory spontaneous perianal fistula. The methodology consisted of applying one to three doses of 5 × 106 cryopreserved allogeneic ASCs to each fistula. The study was performed in 14 dogs regardless of sex, breed, or age, with a clinical diagnosis of refractory PF. Cells diluted in phosphate-buffered saline were applied to five sites of the PF in an amount of 1 × 106 per application site. Efficacy was determined by the complete closure of the fistula, which was observed in 100% of the cases studied one month after therapy, with a subsequent follow-up of 12 to 48 months after therapy. Furthermore, safety was demonstrated by the absence of local or systemic adverse effects. In conclusion, the protocol used in this work demonstrates the efficacy without adverse effects of the in situ application of low doses of allogeneic ASCs, providing a simple, non-invasive, long-lasting and low-cost therapeutic option.

Comprehensive analysis and validation of TP73 as a biomarker for calcium oxalate nephrolithiasis using machine learning and in vivo and in vitro experiments.

Calcium oxalate (CaOx) nephrolithiasis constitutes approximately 75% of nephrolithiasis cases, resulting from the supersaturation and deposition of CaOx crystals in renal tissues. Despite their prevalence, precise biomarkers for CaOx nephrolithiasis are lacking. With advances in high-throughput sequencing, we aimed to identify biomarkers of CaOx nephrolithiasis by combining twoCaOx nephrolithiasis datasets (GSE73680 and GSE117518). Utilizing weighted gene co-expression network analysis (WGCNA) and four machine learning, we identified six hub genes (DLK2, BHLHA15, C12orf5, ICMT, LOXHD1, and TP73) as potential biomarkers. Additionally, CIBERSORT immune infiltration analysis suggested that these core genes may influence immune cell recruitment and infiltration in CaOx nephrolithiasis. Then, TP73 emerged as a significant hub gene in CaOx nephrolithiasis via receiver operating characteristic (ROC) analysis (AUC = 0.885). Furthermore, the role of TP73 was validated in CaOx nephrolithiasis rat models induced by 1% ethylene glycol, as well as clinical samples and renal tubular epithelial cell models treated with 1mM oxalate. Immunohistochemistry, RNA-Sequencing, and RT-qPCR experiments demonstrated an increased expression of TP73 in CaOx nephrolithiasis rat models and clinical samples. After transfection with TP73 lentivirus, CCK-8 assays suggested that TP73 could inhibit the proliferation of HK-2 and NRK-52E cells. In oxalate-induced cell models, dihydroethidium staining and flow cytometry apoptosis assays indicated that TP73 could enhance ROS levels and cell apoptosis. In summary, our study preliminarily identified TP73 as a diagnostic biomarker and elucidated the promoting role of TP73 in CaOx nephrolithiasis, providing a deeper understanding of the clinical diagnosis and pathogenesis.

Clinico-histopathological characteristics and management outcome of rare chronic infective granulomatous diseases: A case series study

Granulomatous skin diseases are common cutaneous dermatoses commonly encountered by practicing dermatologist. Granulomatous skin lesions are distinctive pattern of chronic inflammatory response of skin due to reaction against various organic and inorganic antigens. Granulomas are characterized by focal collection of epithelioid cells or histiocytes, admixed with variable number of leucocytes (especially mononuclear cells) and multinucleated giant cells. Granulomatous reaction is a type IV hypersensitivity reaction evoked by poorly soluble reactive substances. Incidence and prevalence of different types of granulomatous dermatitis depend on geographic location. Granulomatous skin lesions are common in the eastern parts of India. Many granulomatous skin lesions have identical histomorphology and conversely a single pathology can produce varied histological features. Some rare suppurative chronic granulomatous skin diseases include Botryomycosis, Actinomycosis, Rhinosporoidosis, Nocardiosis, and Cutaneous Tuberculosis. To describe clinical, histopathological features and treatment outcome of rare chronic infective granulomatous diseases. In this observational case series study, we retrospectively analysed six biopsy proven cases of rare chronic infective granulomatous diseases presented to our department (OPD) of Dermatology, Venereology and Leprosy (DVL) over a period of six months between June 2023 to November 2023 at Great Eastern Medical School and Hospital (GEMS), Srikakulam, Andhra Pradesh, India. The patient’s full clinical history, morphology of lesions, histopathological findings and treatment outcome were analysed. Along with histopathology, other necessary laboratory investigations were performed if required. A total of six patients were involved in the study, of whom four were males and two were females. The male to female ratio was 2:1, with a slight male majority. The most common age group was 31-40 years for both males and females. Painful raised lesion for long duration was the predominant complaint among those patients. Out of these six rare chronic granulomatous diseases, bacterial infections were common than fungal infection. All the cases showed clinical improvement after one month of starting treatment.: Most of the patients had a chronic history with improper treatment. So, it is imperative that the clinical diagnosis has to be confirmed with histopathology for the definitive diagnosis and appropriate treatment of these rare chronic infective granulomatous diseases. All these rare cases showed excellent progress after starting the right treatment.

Clinico-dermoscopic and Histopathological Evaluation of Benign Skin, Soft Tissue and Appendageal Tumours of Skin: A Cross-sectional Study from a Tertiary Care Hospital

Abstract Background: Benign skin, soft tissue and appendageal tumours of skin are one of the most frequently encountered skin disorders. An organised systematic approach along with dermoscopic and histopathological examination can aid in the diagnosis of these diverse disorders. Objective: To evaluate clinico-dermoscopic and histopathological findings of benign skin, soft tissue and appendageal tumours of skin in patients attending a tertiary care hospital. Methods: Cross-sectional hospital-based study where patients of all age groups irrespective of gender suspected of having benign skin, soft tissue and appendageal tumours were enrolled. Clinical, dermoscopic and histopathological findings were recorded and the agreements between them were evaluated using the Cohenʼs Kappa coefficient. Results: The study included a total of 415 patients with a mean age of 37.9 ± 15.59 years and a male to female ratio of 1:1.3. The mean duration of the disease was 4.3 ± 2.14 years. Soft tissue tumours were the commonest (60%), followed by benign skin tumours (24.3%) and benign appendageal tumours (17.1%). A good agreement between dermoscopic and clinical diagnosis was found (Cohenʼs Kappa = 0.879) and between dermoscopic and histopathological diagnosis was also found (Cohenʼs Kappa = 0.789). Conclusion: This study infers that benign tumours of the skin include a heterogeneous group of skin disorders affecting a heterogeneous population. Dermoscopy improved the diagnostic accuracy of this large group of skin disorders and reduced the number of unnecessary excisions; however, histopathology remains the benchmark diagnostic tool to differentiate these tumours from other benign tumours and their malignant counterparts.

Penetrating intraorbital wooden foreign bodies involving the right frontal lobe of the brain: A rare case report

Background: Penetrating orbital trauma from a wooden foreign object is rare and challenging to identify, as it cannot be detected with a computed tomography (CT) scan. This report highlights the clinical presentation, diagnosis, and management of such a case. Case Description: A 19-year-old female experienced penetrating orbital trauma from a wooden object following a traffic accident. She intermittently visited the hospital with eye swelling and headache, without visible penetrating wounds on the palpebra. The swelling persisted for weeks, accompanied by increasing signs of ocular and cerebral infection. The suspicion of a non-metallic foreign body penetrating the brain was confirmed 3 months after the initial visit, delayed by the hidden entry wound between the eyelid and eyeball and orbital edema mimicking non-penetrating trauma. A multidisciplinary team managed the case. Procedures included debridement, retro-orbital exploration, retro-orbital abscess evacuation, and frontal basal trephination exploration, successfully removing the wooden object that had penetrated the medial orbit, frontal bone, and brain, along with cerebral abscess evacuation. Postoperative CT scans showed complete removal of the foreign object and successful abscess evacuation. The patient showed improvement in ocular symptoms, resolution of headaches, and no wound leakage. She was discharged on the 14th day after completing antibiotic treatment and having the dressing removed. Conclusion: This case is notable for its rarity, high risk of misdiagnosis, and potentially fatal consequences if not promptly managed. We emphasize the importance of patient involvement in routine consultations, careful anamnesis, clinical examination, and a multidisciplinary approach for optimal outcomes.

A rare case of mucocele of the Blandin and Nuhn glands with review of literature

Oral mucocele is the most common benign minor salivary gland lesion of the oral cavity. Usually it occurs on lower lip, buccal mucosa and ventral surface of the tongue and rarely seen on ventral surface of the tongue, floor of mouth and palate. It is classified in two types of lesions, one is extravasation type which is more common and other is retention type. We present case report of a 37-year-old healthy male with complaint of swelling on ventral surface of the tongue, which was sessile, soft and fluctuant with smooth overlying mucosa with diagnosis of mucocele associated with Blandin and Nuhn gland. Management included marsupialization and drainage of thick mucus secretions. This article discusses on clinical features, diagnosis and management of mucoceles associated with Blandin and Nuhn gland.

Dermoscopy Training Course Improves Ophthalmologists’ Accuracy in Diagnosing Atypical Pigmented Periorbital Skin Lesions

Background/Objectives: Facial pigmented skin lesions are extremely common, starting from the fourth to fifth decades, especially in South-European countries, often located in the periorbital region. These include malignant forms, Lentigo maligna (LM) and lentigo maligna melanoma (LMM), characterized by growing incidence, and a series of benign simulators, including solar lentigo (SL), pigmented actinic keratosis (PAK), seborrheic keratosis (SK) and lichen planus-like keratosis (LPK). The clinical differential diagnosis of atypical pigmented skin lesions (aPFLs) can be difficult, even for dermatologists, leading to inappropriate skin biopsies with consequent aesthetic impacts. Dermoscopy of the facial area is a specific dermoscopic field that requires dedicated training and proved to increase diagnostic accuracy in dermatologists. Since these lesions are often seen by ophthalmologists at first, we aimed to evaluate the effect of a focused dermoscopy training course on a group of ophthalmologists naïve to the use of a dermatoscope. Methods: A set of 80 periorbital pigmented skin lesions with both clinical and dermoscopic images was selected and evaluated by six ophthalmologists before and after a one-day intensive dermoscopic training course. They were required to evaluate 80 periorbital lesions one month before and after a one-day intensive dermoscopic training course, illustrating second-level diagnostic options such as reflectance confocal microscopy (RCM), obtaining a total of 480 evaluations. Specifically, they had to provide, for each case, a punctual diagnosis and a management option among dermoscopic follow-up/skin biopsy/RCM/LC-OCT. Descriptive statistics were carried out, and the accuracy (ACC), sensitivity (SE), and specificity (SP), with their 95% confidence interval (95% CI), were estimated. Results: In the pre-course test, ophthalmologists achieved 84.0% SP, 33.3% SE and 63.7% ACC, while after the course, SE increased by +9% (i.e., 41.7%), SP decreased by 4%, and ACC remained comparable, i.e., 64.6%. In the management study, the percentage of benign lesions for which a close dermoscopic follow-up was suggested significantly decreased (51.6% versus 22.2%), in parallel with an increase in the number of lesions referred for RCM. As for malignant cases, the reduction in responses “close dermoscopic follow-up” decreased from 37.0% to 9.9%, (−27%), in favor of RCM (+15%) and skin biopsy (+12%). Conclusions: The ophthalmologists proved to be very receptive in quickly metabolizing and putting into practice the concepts learned during the one-day intensive dermoscopy training course. Indeed, after only a one-day lesson, they were able to increase their SE by 9% and to improve their management strategy. The present findings highlight the importance of providing training ophthalmologists in dermoscopy during residency programs, in terms of benefits for the correct patient care.

Understanding oral malignancies: 2 case reports

The clinical presentation, diagnosis, and management of several squamous cell carcinoma cases are covered thoroughly. Roughly 94% of all mouth malignancies are squamous cell carcinomas. Race, gender, and age group differences exist in annual incidence and mortality rates. This percentage is 7.7 per 100,000 in the US. Like other carcinomas, intraoral carcinoma is more common in older adults, especially in men. Individuals with oral SCC have often known about an abnormality in that area for four to eight months prior to seeking professional medical attention. Early growth is characterized by little discomfort, which may account for the delay in seeking professional assistance. The clinical manifestations of oral SCC include exophytic, endophytic, leukoplakic, and erythroplakic, all of which exhibit apparent surface alterations.Tobacco usage, excessive alcohol consumption, HPV infection, eating little fruits and vegetables, prolonged sun exposure, and having a compromised immune system are risk factors. Improving outcomes requires early discovery and treatment, which may include chemotherapy, radiation therapy, surgery, or a combination of these. In order to improve the prognosis for oral cancer, early identification and intervention are crucial. Survival risk from squamous cell carcinoma is often low. This article emphasis on the clinical presentation of oral malignancies.

Single-incision laparoscopic hepaticojejunostomy with selective ductoplasty for type IV-A Choledochal cysts in children: a retrospective study.

Type IV-A choledochal cyst (CDC) has been considered to have a poor prognosis due to the high incidence of postoperative anastomotic strictures and intrahepatic stones. This study aimed to evaluate the surgical outcomes of children with type IV-A CDC and to provide insights for clinical diagnosis and treatment. The study retrospectively analyzed patients from June 2015 to December 2018 at our center, 76 children were diagnosed with type IV-A CDC. All patients underwent single-incision laparoscopic choledochal cyst excision and Roux-en-Y hepaticojejunostomy. The decision to perform ductoplasty was made by comprehensively considering the intrahepatic duct dilatation (IHDD) and stricture. All patients were followed up 1, 3, and 6 months postoperatively, and then every 1 year thereafter. Patients were categorized into two groups based on IHDD changes postoperatively: the long-term group (LTG), with IHDD persisting for over a year, and the short-term group (STG), where IHDD normalized within a year. Single/multiple factor logistic regression was used to analyse the factors influencing postoperative IHDD. The median follow-up period was 80 months, with a range from 64 to 101 months. The decrease in postoperative liver function parameters, compared to preoperative levels, was statistically significant. Two patients (2.63%) developed bile leaks. One patient (1.32%) developed anastomotic stricture. All patients' IHDD returned to normal size. Fifty-six (73.7%) patients showed normalization of IHDD within one-year postoperatively. The median recovery time for IHDD in patients was 1.65 months, ranging from 3 days to 74 months postoperatively. There were significant differences in intrahepatic biliary sludge and stones and maximum diameter of IHDD between STG and LTG. Logistic regression was used to analyse the factors and found that intrahepatic biliary sludge and a wider maximum diameter of IHDD were risk factors for postoperative long-term IHDD in patients. Single-incision laparoscopic hepaticojejunostomy with selective ductoplasty are safe and effective for children with Type IV-A CDC. Long-term follow-up is recommended for children presenting with intrahepatic biliary sludge and larger IHDD.