Early Diagnosis Research Articles

Sensitivity of diagnosis of spontaneous bacterial peritonitis is higher with the automated cell count method

BACKGROUND Spontaneous bacterial peritonitis (SBP) is one of the most important complications of patients with liver cirrhosis entailing high morbidity and mortality. Making an accurate early diagnosis of this infection is key in the outcome of these patients. The current definition of SBP is based on studies performed more than 40 years ago using a manual technique to count the number of polymorphs in ascitic fluid (AF). There is a lack of data comparing the traditional cell count method with a current automated cell counter. Moreover, current international guidelines do not mention the type of cell count method to be employed and around half of the centers still rely on the traditional manual method. AIM To compare the accuracy of polymorph count on AF to diagnose SBP between the traditional manual cell count method and a modern automated cell counter against SBP cases fulfilling gold standard criteria: Positive AF culture and signs/symptoms of peritonitis. METHODS Retrospective analysis including two cohorts: Cross-sectional (cohort 1) and case-control (cohort 2), of patients with decompensated cirrhosis and ascites. Both cell count methods were conducted simultaneously. Positive SBP cases had a pathogenic bacteria isolated on AF and signs/symptoms of peritonitis. RESULTS A total of 137 cases with 5 positive-SBP, and 85 cases with 33 positive-SBP were included in cohort 1 and 2, respectively. Positive-SBP cases had worse liver function in both cohorts. The automated method showed higher sensitivity than the manual cell count: 80% vs 52%, P = 0.02, in cohort 2. Both methods showed very good specificity (> 95%). The best cutoff using the automated cell counter was polymorph ≥ 0.2 cells × 109/L (equivalent to 200 cells/mm3) in AF as it has the higher sensitivity keeping a good specificity. CONCLUSION The automated cell count method should be preferred over the manual method to diagnose SBP because of its higher sensitivity. SBP definition, using the automated method, as polymorph cell count ≥ 0.2 cells × 109/L in AF would need to be considered in patients admitted with decompensated cirrhosis.

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.

Improving early diagnosis of multiple endocrine neoplasia type 1 by assessing the gastrointestinal symptoms, hypercalcemia, and elevated serum gastrin

Despite advancements in the field, early diagnosis of multiple endocrine neoplasia type 1 (MEN1) remains unachievable. This letter to the editor highlighted the importance of carefully assessing gastrointestinal symptoms, hypercalcemia, and elevated serum gastrin levels, as suggested by Yuan et al in their paper. They focused on a patient with recurrent abdominal pain and diarrhea whose diagnostic path led to establishing a MEN1 diagnosis within a year. This emphasized the need for clinicians to consider MEN1 in patients with similar presentations, particularly when gastrointestinal symptoms persist or recur after discontinuation of proton pump inhibitors, especially knowing that early recognition and intervention are crucial for improving patient outcomes.

Diagnosis and typing of leukemia using a single peripheral blood cell through deep learning

AbstractLeukemia is highly heterogeneous, meaning that different types of leukemia require different treatments and have different prognoses. Current clinical diagnostic and typing tests are complex and time‐consuming. In particular, all of these tests rely on bone marrow aspiration, which is invasive and leads to poor patient compliance, exacerbating treatment delays. Morphological analysis of peripheral blood cells (PBC) is still primarily used to distinguish between benign and malignant hematologic disorders, but it remains a challenge to diagnose and type these diseases solely by direct observation of peripheral blood(PB) smears by human experts. In this study, we apply a segmentation‐based enhanced residual network that uses progressive multigranularity training with jigsaw patches. It is trained on a self‐built annotated dataset of 21,208 images from 237 patients, including five types of benign white blood cells(WBCs) and eight types of leukemic cells. The network is not only able to discriminate between benign and malignant cells, but also to typify leukemia using a single peripheral blood cell. The network effectively differentiated acute promyelocytic leukemia (APL) from other types of acute myeloid leukemia (non‐APL), achieving a precision rate of 89.34%, a recall rate of 97.37%, and an F1 score of 93.18% for APL. In contrast, for non‐APL cases, the model achieved a precision rate of 92.86%, but a recall rate of 74.63% and an F1 score of 82.75%. In addition, the model discriminates acute lymphoblastic leukemia(ALL) with the Ph chromosome from those without. This approach could improve patient compliance and enable faster and more accurate typing of leukemias for early diagnosis and treatment to improve survival.

Parkinson’s Disease: Biomarkers for Diagnosis and Disease Progression

Parkinson’s disease (PD) is a progressive neurological disease that causes both motor and nonmotor symptoms. While our understanding of putative mechanisms has advanced significantly, it remains challenging to verify biomarkers with sufficient evidence for regular clinical use. Clinical symptoms are the primary basis for diagnosing the disease, which can be mild in the early stages and overlap with other neurological disorders. As a result, clinical testing and medical records are mostly relied upon for diagnosis, posing substantial challenges during both the initial diagnosis and the continuous disease monitoring. Recent biochemical, neuroimaging, and genetic biomarkers have helped us understand the pathophysiology of Parkinson’s disease. This comprehensive study focuses on these biomarkers, which were chosen based on their relevance, methodological excellence, and contribution to the field. Biochemical biomarkers, including α-synuclein and glial fibrillary acidic protein (GFAP), can predict disease severity and progression. The dopaminergic system is widely used as a neuroimaging biomarker to diagnose PD. Numerous genes and genome wide association study (GWAS) sites have been related to the development of PD. Recent research on the SNCA gene and leucine-rich repeat protein kinase 2 (LRRK2) has shown promising results. By evaluating current studies, this review intends to uncover gaps in biomarker validation and use, while also highlighting promising improvements. It emphasizes the need for dependable and reproducible indicators in improving PD diagnosis and prognosis. These biomarkers may open up new avenues for early diagnosis, disease progression tracking, and the development of personalized treatment programs.

SMARCA4 Deficient Gastric Carcinoma With Squamous Differentiation in a Young Patient With Aggressive Clinical Course

Inactivation of SMARCA4 (BRG1), a subunit of SWI/SNF complex, has been reported in malignancies from various sites, including the thorax, uterus, ovary, and gastrointestinal tract, and is usually associated with aggressive clinical course. These tumors have been reported primarily in elderly patients and on histology demonstrate high-grade morphology, often with rhabdoid differentiation. SMARCA4 loss is exceedingly rare in primary gastric cancers. Here, we present a unique example of SMARCA4 deficient gastric carcinoma in a 28-year-old male patient with molecular confirmation which showed a poorly differentiated histology and focal squamous differentiation. Despite multidisciplinary management, including FOLFOX chemotherapy, immunotherapy (nivolumab), and surgical resection, the patient succumbed to his disease within 2 years of diagnosis. This case report highlights the aggressive nature of SMARCA4-deficient carcinomas, which are often resistant to conventional chemotherapy, and underscores the importance of early diagnosis and exploring alternative therapeutic approaches for such malignancies.

Sjögren’s Disease and Gastroesophageal Reflux Disease: What Is Their Evidence-Based Link?

Sjögren’s disease (SjD), or primary Sjögren’s syndrome (pSS), is a heterogeneous chronic autoimmune disorder with multiple clinical manifestations that can develop into non-Hodgkin’s lymphoma in mucosa-associated lymphoid tissue. SjD is one of the autoimmune diseases with the maximum delayed diagnosis due to its insidious onset, heterogeneous clinical features and varied course. It is increasingly recognized that extraglandular manifestations represent a clinical challenge for patients with SjD. The European League Against Rheumatism (EULAR) Sjögren’s Syndrome (SS) Disease Activity Index (ESSDAI) is a systemic disease activity index designed to measure disease activity in patients with primary Sjogren’s syndrome. It consists of 12 domains: cutaneous, pulmonary, renal, articular, muscular, peripheral nervous system, central nervous system, hematological, glandular, constitutional, lymphadenopathy and lymphoma, biological. More than a quarter of patients with pSS may have systemic features that are not included in the ESSDAI classification, i.e., various cardiovascular, ophthalmic, ENT, and other systemic or organ involvement that increase the magnitude of the systemic phenotype in the disease. The ESSDAI also excludes the gastrointestinal (GI) tract, and unfortunately, GI manifestations are not routinely assessed. Gastroesophageal reflux disease (GERD) is one of the most prevalent gastrointestinal disorders, impairing quality of life and consuming a large volume of medical resources. Recently carried out the Mendelian randomized trial confirmed the causal link between SjD and gastroesophageal reflux disease (GERD) and showed that GERD is a risk factor for SjD. This review aims to provide an overview of the research describing evidenced based links between Sjögren’s disease and gastroesophageal reflux disease, with the intention of ensuring that any systemic pathology in Sjögren’s disease is properly assessed and that management of the disease is directed towards the patient. A comprehensive literature search was carried out on PubMed, Web of Science, Scopus and the Cochrane Library databases. Two researchers searched for published studies indexed from inception to 1 September 2024 using the keywords ‘Sjögren’s syndrome’ OR ‘Sjögren’s disease’ AND ‘gastroesophageal reflux disease’ AND ‘microbiota’ OR microbiota dysbiosis’. We limited our search for scientific articles to human studies, and only included articles in English. Overall, there is a lack of evidence-based studies assessing the association between GERD and Sjögren’s disease and the changes in the microbiota associated with GERD in a multidisciplinary setting. Such studies are needed for the future, as this will improve the early diagnosis of Sjögren’s disease and the personalized management of the disease.

Diagnostic Challenges in Hematological Malignancies in Nigeria and their Impact on Treatment Outcome

Haematological magnificence constitutes a major public health disease burden globally due to the degree of mortality and morbidity they cause. Aim: This review was aimed at exploring and reporting some of the difficulties that hinder early/accurate diagnosis and management of haematological malignancies in Nigeria emphasizing a single centre experience and to further highlight how they affect treatment outcome. Methodology: Google scholar, Pubmed and African Journals online sites were explored in July 2024. Relevant articles were selected. The most senior consultant haematologist in the single centre in South South Nigeria being studied was interviewed and account was documented. Results: The difficulties encountered in the prompt/proper diagnosis and management of haematological malignancies reported by the studies and the clinician interviewed include, visiting orthopaedic and other specialists as well as herbalists and spiritualists for several months before reporting to the haematology clinic, mis – and/or missed diagnosis due to inadequate diagnostic equipment and techniques like use of morphological studies alone for Rowmanawsky stained blood picture examination and histological diagnosis without cytogenetics, immunophenotyping, polymerase chain reaction fluorescent insitu hybridization, poverty, cultural and religious beliefs. Poor treatment outcome as a result of these challenges were also reported. Conclusion: Enlightenment campaigns on the benefits of early diagnosis and prompt presentation to the hospital should be encouraged. Provision of up-to-date advanced technologies for early/accurate diagnosis and sub classification of haematologiacl malignancies should be made in main health facilities across the country. Diagnosis and treatment of haematological malignancies should be built into the National Health Insurance scheme to strengthen the system in this regard.

Abstract A006: Investigating the effects of fibroblasts derived from the primary versus the metastatic organ on 3D biomimetic models of pancreatic cancer

Abstract Pancreatic ductal adenocarcinoma (PDAC) is the 3rd leading cause of cancer death in the United States with a 5-year survival rate of only 13%. Early diagnosis is very difficult and thus 53% of patients are diagnosed after metastasis has already occurred, with the liver being the most frequently affected site. Both primary tumors and metastases have dense desmoplastic stroma due to a high percentage of fibroblasts within the tumor microenvironment (TME). Previously, we developed a tunable 3D biomimetic model of the liver metastatic niche (LMN) to investigate how local fibroblasts affect tumor growth and chemoresistance in PDAC liver metastasis. This study aims to investigate the contributions of fibroblasts at the primary versus metastatic sites. We used matched primary PDAC and liver metastatic (LM) organoids derived from the Kras+/LSL-G12D; Trp53+/LSL-R172H; Pdx1-Cre (“KPC”) genetically engineered mouse model. This allows us to compare the effects of primary PDAC cancer associated fibroblasts (CAFs) and liver metastasis associated fibroblasts (MAFs) on tumor cell growth and chemoresistance. Rheometry analyses were conducted to study the impact of local fibroblasts on the extracellular matrix (ECM) stiffness. Our results showed that both storage and loss moduli were enhanced only when PDAC CAFs were present in the co-cultured gels compared to gels with MAFs. Additionally, the 3D biomimetic model showed fibroblasts increased tumor growth and chemoresistance to gemcitabine, only when they were derived from the same site as the tumor cells. This highlighted the importance of studying the organ-specific microenvironment to develop better treatment options for patients with metastatic PDAC. To delve deeper into the molecular basis of these observations, we conducted RNA-sequencing to identify and compare the gene expression profiles in primary and metastatic tumor organoids exposed to conditioned media from CAFs and MAFs using a transwell membrane co-culture model. Our results showed significant differences in gene expression based on the type of fibroblasts co-cultured with the organoids. Moreover, we investigated the role of MAF-derived exosomes on LM growth and chemoresistance using exosome depletion and direct exosome addition to LM organoids. Lastly, we performed exosomes size and distribution characterizations using dynamic light scattering (DLS) analysis. Taken together, these findings highlight the critical role of the organ-specific microenvironment in tumor progression and the necessity of targeted therapies to improve patient outcomes in metastatic PDAC. Our results underscore the importance of developing a tunable 3D biomimetic model of the LMN, as it enables the testing of novel therapeutic strategies designed to disrupt interactions between MAFs and tumor cells, and potentially advancing treatments for metastatic PDAC. Citation Format: Mahsa Pahlavanneshan, Weikun Xiao, Eileen Fung, Vaidhyanathan Mahaganapathy, Chae Young Eun, Chang-Il Hwang, Shannon Mumenthaler, Reginald Hill. Investigating the effects of fibroblasts derived from the primary versus the metastatic organ on 3D biomimetic models of pancreatic cancer [abstract]. In: Proceedings of the AACR Special Conference in Cancer Research: Tumor-body Interactions: The Roles of Micro- and Macroenvironment in Cancer; 2024 Nov 17-20; Boston, MA. Philadelphia (PA): AACR; Cancer Res 2024;84(22_Suppl):Abstract nr A006.

Atypical Presentation of Hirschsprung's Disease in an Infant: Challenges in Early Diagnosis and Management of Recurrent Enterocolitis

Atypical Presentation of Hirschsprung's Disease in an Infant: Challenges in Early Diagnosis and Management of Recurrent Enterocolitis

Progressive Bulbar Palsy Care: Exploring the Potential of Functional MRI for Early Detection

Progressive bulbar palsy (PBP) is a neurodegenerative disorder impacting motor neurons involved in speech, swallowing, and breathing. Early diagnosis is challenging due to limited diagnostic tools. Functional MRI (fMRI) holds promise for detecting early biomarkers and tracking disease progression, potentially improving clinical management. This study aims to explore the utility of fMRI in developing imaging biomarkers for the early detection, prognostication, and monitoring of PBP. By addressing existing gaps in the literature, the research seeks to demonstrate how fMRI can enhance diagnostic accuracy, provide predictive insights into disease progression, and improve patient outcomes. A systematic literature review was conducted using databases such as Google Scholar. The search focused on articles published from 2018 onwards, using keywords related to PBP and fMRI. Inclusion criteria included peer-reviewed studies involving human subjects relevant to the use of fMRI in PBP. Exclusion criteria excluded non-peer-reviewed articles, non-English publications, and studies not specifically addressing fMRI in PBP. Data synthesis involved both qualitative and quantitative analyses of identified biomarkers, diagnostic accuracy, and prognostic value. The review identified several fMRI biomarkers that show potential for early detection and monitoring of PBP. These biomarkers, derived from functional and structural changes in corticobulbar pathways, offer enhanced sensitivity compared to traditional diagnostic methods. Predictive models based on fMRI metrics can forecast disease progression, aiding in personalized treatment planning. The study concludes that integrating fMRI into clinical practice could lead to earlier interventions, more accurate prognostic assessments, and improved management of PBP, ultimately enhancing patient quality of life and outcomes.

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.

Multiomics biomarkers were not superior to clinical variables for pan-cancer screening

Abstract Background Cancer screening tests are considered pivotal for early diagnosis and survival. However, the efficacy of these tests for improving survival has recently been questioned. This study aims to test if cancer screening could be improved by biomarkers in peripheral blood based on multi-omics data. Methods We utilize multi-omics data from 500,000 participants in the UK Biobank. Machine learning is applied to search for proteins, metabolites, genetic variants, or clinical variables to diagnose cancers collectively and individually. Results Here we show that the overall performance of the potential blood biomarkers do not outperform clinical variables for collective diagnosis. However, we observe promising results for individual cancers in close proximity to peripheral blood, with an Area Under the Curve (AUC) greater than 0.8. Conclusions Our findings suggest that the identification of blood biomarkers for cancer might be complicated by variable overlap between molecular changes in tumor tissues and peripheral blood. This explanation is supported by local proteomics analyses of different tumors, which all show high AUCs, greater than 0.9. Thus, multi-omics biomarkers for the diagnosis of individual cancers may potentially be effective, but not for groups of cancers.

Cervical Anatomical Characteristics in Women with Endometriosis: A Diagnostic Approach

Background: Endometriosis is a gynecologic disorder which causes dysmenorrhea and infertility. Early diagnosis of endometriosis can help prevent the necessity for invasive diagnostic procedures. Medical imaging has been widely utilized to diagnose various diseases without the need for invasive procedures. The purpose of this study was to investigate the cervical length in women with endometriosis. Methods: In this case-control study, the case group consisted of nulliparous women with endometriosis, while the control group comprised nulliparous women without endometriosis. A total of 42 individuals were included in each group. Cervical length was measured using transvaginal ultrasound from the external os to the internal os. The patients in the case group underwent laparoscopy to confirm the diagnosis. Pearson chi-square test and Fisher’s exact test were employed to compare categorical variables with a p<0.05 considered statistically significant. Results: In both groups, there were no notable variations in any of the demographic characteristics. However, the severity of dysmenorrhea was significantly different between the two groups (p=0.01). The average diameter of the mediolateral cervix (29.48±6.2 and 27.14±3.8) was statistically significant between the patient group and control group, respectively (p=0.04). The mediolateral width may have a positive predictive effect on the presence of endometriosis, while cervical length appears to have a protective effect against endometriosis. Conclusion: Demographic data do not predict endometriosis. This study suggests that mediolateral width in transvaginal sonography can serve as a minimally invasive diagnostic tool for endometriosis, showing correlation with endometriosis symptoms like dysmenorrhea and dyspareunia.

ESPOROTRICOSE FELINA

Sporotrichosis is a zoonotic disease caused by dimorphic fungi of the Sporothrix schenckii complex. Cats, due to their semi-domiciled lifestyle and species-specific behaviors, are most affected. Transmission occurs mainly through direct contact with infected animals, through scratches or bites, in addition to contact with the agent in the environment, such as contaminated soil and plants. The disease is more prevalent in countries in tropical and subtropical zones, with subcutaneous mycosis being more common in Latin America. Although the prognosis is generally favorable, sporotrichosis has become a growing public health problem, due to its expansion in regions of Brazil and the fact that it is a zoonosis. In humans, especially in immunosuppressed individuals, it can evolve into extracutaneous forms, with a risk of becoming fatal. Early diagnosis of sporotrichosis is essential for the prevention and control of this disease in Brazil.

Revisiting tuberculosis diagnosis: the prospect of urine lipoarabinomannan assay as a diagnostic tool in people living with human immunodeficiency virus

Abstract Background Tuberculosis, since its discovery has become a global health burden, continuously spreading across the nations of the earth with increased mortality. Its effect on human immunodeficiency virus (HIV) progression and immune cell deterioration cannot be overlooked. The widespread use of traditional and molecular TB diagnostic methods has been hindered by several factors. Nonetheless, the development of a rapid, sensitive, timely, non-invasive diagnostic protocol could revolutionise the diagnostic era and halt the spread of this infectious agent. It could also help in the early diagnosis of the infection in poorly developed areas. The detection efficacy of urine lipoarabinomannan assay as a prospect in tuberculosis diagnosis in HIV-positive patients was assessed in this study. Urine samples were collected into a wide-mouthed universal container from HIV-positive patients with signs and symptom of tuberculosis and HIV advanced disease. Alere determine urine lateral flow—LAM test was used for the detection of LAM antigen in urine samples of HIV-positive patients. The CD4 count of the HIV-positive patients was also documented. Results A total of 85 HIV-positive subjects were included in the analysis based on the inclusion criteria. Urinary LAM was reactive in 29 (34.1%) of 85 HIV-positive patients and non-reactive in 56 (69.1%). The majority of the participants had a CD4+ count < 200 cells/µL 60 (70.6%), while others had CD4+ count ≥ to 200 cells/µL 25 (29.4%). There was no statistically significant difference between CD4 count and LAM positivity. Most of the affected age groups in the study were 31–45 years, and females had preponderance in comparison to male subjects. Conclusions The use of urinary LAM in HIV-positive patients is a helpful tool for TB screening. It also has a promising ability for early TB diagnosis in the study group and other TB-associated disease conditions in resource-deprived settings. For the general populace, further research is required to certify its sensitivity and specificity.

Duodenal Atresia with Apple-peel Intestinal Atresia: a Case with Favorable Outcome

Objective − Duodenal atresia with apple-peel intestinal atresia remains a difficult and complex condition, even with advances in medical and surgical therapies. Due to the significant difference in etiology, the association between these two types of atresia is very rare and is associated with a high rate of mortality. Only twelve of these cases have been described so far in English literature, most often with a poor outcome. Our patient survived and is doing well.Case Report − Here, we present a premature infant in whom intestinal atresia was suspected prenatally. On the first day of life, based on clinical, radiographic and ultrasound examination, suspicion was confirmed and surgical intervention was performed. It was discovered that the proximal part of the duodenum blindly ends with a large dilation. The proximal jejunum also ends blindly and the distal small intestine wraps around a single mesenteric vessel in a spiral fashion reminiscent of an “apple-peel.” At the first operation (on the first day of life), a double enterostomy of the proximal duodenum and the proximal jejunum was performed. On the second operation (on day 10), the continuity of the digestive intestine was established by end-to-end duodeno-jejunal anastomosis. Progress in body mass was confirmed during the postoperative period and normal stool was formed on a regular basis.Conclusion − Based on our case, possible reasons for the good outcome of patients with these rare forms of intestinal atresia are prenatal suspicion, early postnatal diagnosis, and early surgical intervention. Further studies should investigate the possibility of a common cause of duodenal atresia and apple-peel atresia to facilitate early diagnosis and early treatment.

Periodontal and orthodontic management of impacted canines.

The maxillary and mandibular canines are described by many clinicians as the "cornerstone" of the arch. When in their optimal position, they play a critical role in providing a well-balanced occlusal scheme that contributes toward functional as well as neuromuscular stability, harmony, esthetics, and dentofacial balance. When an aberration is noted with the normal eruptive and development process, early diagnosis with strategic intervention is critical and may often require a multidisciplinary approach. A proper diagnosis, risk assessment, and management of the soft tissues, hard tissues, and adjacent structures are vital for a successful outcome. This review highlights the diagnostic and treatment modalities that require consideration for the orthodontic as well as the periodontal management of impacted canines. The reader is guided through the etiology, diagnosis, prevention, and intervention of clinical cases that were managed with different approaches.

Exploring 17q12 Deletion Syndrome: A Case Report of Neurodevelopmental, Endocrine, and Genital Anomalies

Objective − 17q12 deletion syndrome is a rare genetic disease characterized by neurodevelopmental disorders, genital and renal abnormalities, and maturity-onset diabetes of the young type 5 (MODY5).Case Report − This case report details the case of a 13-year-old female with moderate intellectual disability, Mayer-Rokitansky-Küster-Hauser syndrome, multicystic dysplastic kidneys, and MODY5. Genetic testing revealed a 1.52-megabase heterozygous deletion on chromosome 17q12, encompassing the HNF1B and LHX1 genes, which was found to be inherited from the mother. Conclusion − This case underscores the importance of early genetic testing and multidisciplinary approach in managing the multisystemic manifestations of 17q12 deletion syndrome. Early diagnosis and appropriate management are crucial for improving the outcomes and quality of life for affected individuals.

NVESTIGAÇÃO CLÍNICA DE DOENÇA INFLAMATÓRIA INTESTINAL EM CÃES (DII): ESTUDO DE CASO

Inflammatory Bowel Disease (IBD) in dogs is a chronic condition that affects the gastrointestinal tract, manifesting through symptoms such as diarrhea, vomiting, and weight loss. This case study aims to analyze the occurrence of IBD in a dog, highlighting the difficulties in early diagnosis and appropriate treatment. The medical record of a dog with chronic gastrointestinal symptoms was reviewed, focusing on the tests performed and the treatment administered. The analysis revealed shortcomings in the diagnostic process, including the underutilization of complementary tests, such as endoscopy with biopsy, and the lack of early referral to a veterinary gastroenterology specialist. The study emphasizes the importance of a specific clinical protocol for differential diagnosis and appropriate treatment of IBD.