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Translational Pediatrics Apr 2024Caroli syndrome or Caroli disease is characterized by focal dilation of the intrahepatic bile ducts, with or without congenital liver fibrosis. Mutations in the gene...
BACKGROUND
Caroli syndrome or Caroli disease is characterized by focal dilation of the intrahepatic bile ducts, with or without congenital liver fibrosis. Mutations in the gene can result in nephropathy, an autosomal recessive cystic kidney disease. However, this genetic mutation is clinically associated with Caroli syndrome or disease. We hypothesize that gene mutations may contribute to extrarenal phenotypes such as Caroli disease or syndrome.
CASE DESCRIPTION
The outpatient department received a 1-year-old male patient with persistent dilated bile ducts for over four months. Subsequent ultrasound examination revealed liver cirrhosis, splenomegaly, and cystic dilatation of the intrahepatic bile duct. He was subsequently admitted for comprehensive diagnosis and treatment. Accordingly, we performed computed tomography (CT)-hepatic portal venography, magnetic resonance-cholangiography, and the plain liver scan, the results revealed liver cirrhosis, splenomegaly, cystic dilatation of the intrahepatic bile duct, as well as atypical hyperplasia nodules in the right posterior lobe of the liver and lymphatic hyperplasia and enlargement in the porta hepatis and the space between the liver and stomach. As the possibility of early small liver cancer could not be excluded due to the presence of nodules, surgical resection was performed followed by pathological examination and whole genome exome testing. The pathological findings revealed hepatocyte swelling, hydropic degeneration, and sporadic necrosis. Fibrous tissue hyperplasia was observed in the portal vein area, along with local pseudolobule formation. Also, numerous small bile duct hyperplasia was observed with lymphocyte infiltration, which is consistent with cirrhosis. Moreover, the hepatocytes of the small focal area showed atypical hyperplasia. Considering the above findings, Caroli syndrome was diagnosed. The genetic results showed two heterozygous mutations in the gene, c.2290delC (p.Q764Nfs*29) and c.2401G>C (p.G801R). Therefore, the child's intrahepatic bile duct dilatation and cirrhosis were considered as the manifestations of Caroli syndrome caused by mutations in the gene.
CONCLUSIONS
Mutations in the gene can manifest as Caroli disease or Caroli syndrome. For the definite diagnosis of liver diseases of unknown etiology, whole exome sequencing may be more conducive.
PubMed: 38715676
DOI: 10.21037/tp-23-574 -
Scientific Reports May 2024This study aims to evaluate the role of trefoil factor 3 (TFF3) peptides in type 2 diabetes mellitus (T2DM) from an inflammatory perspective. The focus was on exploring...
This study aims to evaluate the role of trefoil factor 3 (TFF3) peptides in type 2 diabetes mellitus (T2DM) from an inflammatory perspective. The focus was on exploring how TFF3 affects the function of T cells. TFF3 overexpression model was constructed using lentivirus in Jurkat cell lines. We evaluated the impact of TFF3 on the proliferation, apoptosis, and IL-17A levels of Jurkat cells cultured in high glucose. The T2DM model was induced in TFF3 knockout (KO) mice through streptozotocin combined with high-fat diet. The measurements included glucose tolerance, insulin tolerance, inflammation markers, Th17 cell proportion, and pancreatic pathological changes. The T2DM modeling led to splenomegaly in mice, and increased expression of TFF3 in their spleens. Overexpression of TFF3 increased the proportion of IL-17 T cells and the levels of Th17-related cytokines in Jurkat cells. There was no difference in body weight and blood glucose levels between wild-type and TFF3 KO mice. However, T2DM mice lacking the TFF3 gene showed improved glucose utilization, ameliorated pancreatic pathology, decreased inflammation levels, and reduced Th17 cell ratio. TFF3 may be involved in the chronic inflammatory immune response in T2DM. Its mechanism may be related to the regulation of the RORγt/IL-17 signaling pathway and its impact on T cell proliferation and apoptosis.
Topics: Th17 Cells; Animals; Humans; Diabetes Mellitus, Type 2; Mice; Trefoil Factor-3; Mice, Knockout; Jurkat Cells; Interleukin-17; Diabetes Mellitus, Experimental; Male; Cell Proliferation; Apoptosis; Diet, High-Fat
PubMed: 38710764
DOI: 10.1038/s41598-024-60426-7 -
Cureus Apr 2024A 72-year-old woman with recently diagnosed non-small cell lung cancer, who underwent cardiac bypass and bioprosthetic mitral valve replacement presented to our cancer...
A 72-year-old woman with recently diagnosed non-small cell lung cancer, who underwent cardiac bypass and bioprosthetic mitral valve replacement presented to our cancer center with lightheadedness, severe fatigue, and shortness of breath. Initial blood tests showed mild hemolytic anemia. The patient also complained of occasional bright red bleeding per rectum. Esophagogastroduodenoscopy and colonoscopy did not reveal an acute source of bleeding. An initial transesophageal echocardiogram did not show significant valvular or paravalvular abnormalities. Meanwhile, the patient's hemolytic anemia worsened. She received eight units of packed red blood cell transfusions. Schematic workup for hemolytic anemia revealed negative Coomb's test, positive urine hemosiderin, normal ADAMTS13 activity, and absent splenomegaly. A relook of the patient's transesophageal echocardiogram (TEE) showed a small paravalvular leak of the bioprosthetic mitral valve. The patient was referred to a tertiary center, and repair of the perivalvular leak with glue resolved her hemolytic anemia, subsequently improving the lab values, symptoms, and quality of life. This case highlights the schematic workup of hemolytic anemia and also the importance of recognizing the association between hemolytic anemia and valvular abnormalities.
PubMed: 38707129
DOI: 10.7759/cureus.57552 -
International Journal of Surgery Case... Jun 2024Wandering spleen may result in torsion or splenomegaly, which causes symptoms such as intestinal obstruction, nausea, vomiting, and swelling in the abdomen. There are...
INTRODUCTION AND IMPORTANCE
Wandering spleen may result in torsion or splenomegaly, which causes symptoms such as intestinal obstruction, nausea, vomiting, and swelling in the abdomen. There are few reports of wandering spleen torsion in pregnant mothers. The diagnosis and presentation of splenic torsion is variable and challenging during pregnancy. Herein, we present a case of torsion of a wandering spleen in a 30-year-old pregnant patient.
CASE PRESENTATION
A 30-year-old female presented with a sudden onset of abdominal pain of three days' duration. There was lower abdominal mass and tenderness. Intraoperative findings revealed enlarged spleen located over the lower abdominal cavity with six times clockwise rotation of the splenic pedicle over itself. A splenectomy was performed. The patient was discharged on the 7th postoperative day and had an uneventful postoperative recovery.
CLINICAL DISCUSSION
Patient presentation could be asymptomatic, chronic left abdominal pain or symptoms and signs of complication. The most common complication of wandering spleen is torsion (Abell, n.d.). Splenic torsion is evidenced by mucosal bleeding, hematemesis, anemia or thrombocytopenia in our patient platelets level was 111,000 cells/μl which suggests vascular thrombosis. The other peculiarity during pregnancy is torsion of the spleen have higher mortality reaching up to 41 % (Lewis and Wolskel, 1962) which may be from delay in diagnosis or misdiagnosis.
CONCLUSION
There is high mortality associated with splenic torsion in pregnant patient reported in the literature. One of the explanations is misdiagnosis and delay in diagnosis of torsion of a wandering spleen in a pregnant patient.
PubMed: 38704970
DOI: 10.1016/j.ijscr.2024.109721 -
Frontiers in Pediatrics 2024Littoral cell angioma (LCA) is an extremely uncommon benign vascular tumor of the spleen. Cases of LCA in infants are rarely reported, and due to the rarity of the tumor...
BACKGROUND
Littoral cell angioma (LCA) is an extremely uncommon benign vascular tumor of the spleen. Cases of LCA in infants are rarely reported, and due to the rarity of the tumor and non-specific symptoms, the diagnosis of LCA is often overlooked in clinical practice.
CASE REPORT
We present a 3-year-old girl with pulmonary inflammation who was admitted to the hospital due to the discovery of a space-occupying lesion in the spleen. Pathology after splenectomy confirmed LCA, and there was no recurrence observed at the 5-month follow-up examination.
CONCLUSION
LCA should be considered when a child shows asymptomatic splenomegaly, with antigen expression indicating dual positivity of endothelial and histiocytic markers. Laparoscopic splenectomy remains the primary method of treating LCA.
PubMed: 38699151
DOI: 10.3389/fped.2024.1383015 -
Cureus Apr 2024Autoimmune diseases can result in additional symptoms and complications impacting various organ systems beyond the joints. These can affect the eyes, skin, respiratory,...
Autoimmune diseases can result in additional symptoms and complications impacting various organ systems beyond the joints. These can affect the eyes, skin, respiratory, cardiac, and renal systems. Recognizing and understanding these diverse manifestations, such as the severe eye issues seen in rheumatoid arthritis (RA) and the potentially life-threatening Felty syndrome, is crucial for clinicians to promptly identify and treat these conditions effectively. In this case presentation, we report on a patient admitted for bilateral scleritis, which was found to be secondary to multiple autoimmune syndrome type 3. During the patient's hospital stay, Felty syndrome was incidentally diagnosed due to the observed combination of RA, splenomegaly, and absolute neutropenia. Prompt recognition of this condition allowed the patient to receive appropriate care, including oral steroids, hydroxychloroquine, and methotrexate, decreasing the risk of severe complications.
PubMed: 38699108
DOI: 10.7759/cureus.57468 -
Journal of Neurological Surgery Reports Apr 2024Langerhans cell histiocytosis (LCH) is a rare proliferative systemic disease characterized by the growth of abnormal dendritic cells and wide-ranging organ...
Langerhans cell histiocytosis (LCH) is a rare proliferative systemic disease characterized by the growth of abnormal dendritic cells and wide-ranging organ involvement. This condition can affect individuals of all ages, but most commonly children, with a peak incidence in toddlers. Symptoms may vary depending on the affected organ or system. A 43-year-old man presented with a left temporal stabbing headache unresponsive to management with therapy and nonsteroidal anti-inflammatory drugs. Initial evaluation revealed a contrast-enhanced left temporal extra-axial lesion with bone and muscle compromise. Differential diagnoses, including multiple myeloma, were explored. Initial laboratory tests and imaging studies showed no other abnormalities, except for splenomegaly and a residual granuloma in the left lung. En bloc resection of the lesion was recommended. The patient underwent surgical intervention, which included resection of the dural lesion and all borders of an infiltrating tumor within the temporalis muscle and the affected portion of the left temporal bone. Posterior pathological examination revealed LCH. Postoperative course was uneventful. Follow-up appointments were scheduled after pathology results confirmed the diagnosis. Patient has continued follow-up for the following 3 months after the surgical procedure. Further evaluations are pending. This case report corresponds to a patient with LCH. These patients are individualized and stratified based on local or systemic involvement to determine the most appropriate type of management. This is a rare case as LCH is rare in older patients and the initial presented lesion initially mimicked a meningioma; however, its atypical behavior and associated lytic compromise led to consideration of possible differential diagnoses. LCH can present with lytic bone lesions, mimicking other conditions, including infiltrative neoplastic lesions. Early diagnosis and appropriate surgical management are essential for optimal patient outcomes. Long-term follow-up is crucial to monitor disease progression and response to treatment.
PubMed: 38690582
DOI: 10.1055/s-0044-1786360 -
Clinical and Experimental Rheumatology Apr 2024To compare Kawasaki disease (KD) and multisystem inflammatory syndrome (MIS-C) in children. (Comparative Study)
Comparative Study
OBJECTIVES
To compare Kawasaki disease (KD) and multisystem inflammatory syndrome (MIS-C) in children.
METHODS
Prospective collection of demographics, clinical and treatment data. Assessment of type 1 interferon (IFN) score, CXCL9, CXCL10, Interleukin (IL)18, IFNγ, IL6, IL1b at disease onset and at recovery.
RESULTS
87 patients (43 KD, 44 MIS-C) were included. Age was higher in MIS-C compared to KD group (mean 31±23 vs. 94±50 months, p<0.001). Extremities abnormalities (p=0.027), mucosal involvement (p<0.001), irritability (p<0.001), gallbladder hydrops (p=0.01) and lymphadenopathy (p=0.07) were more often recorded in KD. Neurological findings (p=0.002), gastrointestinal symptoms (p=0.013), respiratory involvement (p=0.019) and splenomegaly (p=0.026) were more frequently observed in MIS-C. Cardiac manifestations were higher in MIS-C (p<0.001), although coronary aneurisms were more frequent in KD (p=0.012). In the MIS-C group, the multiple linear regression analysis revealed that a higher IFN score at onset was related to myocardial disfunction (p<0.001), lymphadenopathy (p=<0.001) and need of ventilation (p=0.024). Both CXCL9 and CXCL10 were related to myocardial disfunction (p<0.001 and p=0.029). IL18 was positively associated to PICU admission (0.030) and ventilation (p=004) and negatively associated to lymphadenopathy (0.004). IFNγ values were related to neurological involvement and lymphadenopathy (p<0.001), IL1b to hearth involvement (0.006). A negative correlation has been observed between IL6 values, heart involvement (p=0.013) and PICU admission (p<0.001).
CONCLUSIONS
The demographic and clinical differences between KD e MIS-C cohorts confirm previous reported data. The assessment of biomarkers levels at MIS-C onset could be useful to predict a more severe disease course and the development of cardiac complications.
Topics: Humans; Mucocutaneous Lymph Node Syndrome; Male; Female; Child, Preschool; Systemic Inflammatory Response Syndrome; Child; Prospective Studies; Infant; COVID-19; Biomarkers
PubMed: 38683206
DOI: 10.55563/clinexprheumatol/l64q51 -
Cureus Mar 2024Lactic acidosis is a rare but severe complication of B-cell lymphoma, often associated with rapid disease progression and poor prognosis. We present a case of a...
Lactic acidosis is a rare but severe complication of B-cell lymphoma, often associated with rapid disease progression and poor prognosis. We present a case of a 60-year-old male admitted with fever, splenomegaly, hemophagocytic tendencies, and lactic acidosis. The patient underwent several dialysis sessions before bone marrow flow cytometry finally confirmed B-cell lymphoma. However, hyperlactatemia persisted and recurred. The case underscores the challenges in diagnosing lymphomas with atypical presentations and emphasizes the critical role of timely bone marrow analysis. Additionally, the paper discusses the association between B-cell lymphoma and lactic acidosis, highlighting the importance of early recognition and intervention.
PubMed: 38681314
DOI: 10.7759/cureus.57146 -
World Journal of Clinical Cases Apr 2024Systemic lupus erythematosus (SLE) is a chronic inflammatory disease primarily affecting young females. SLE can invade any organ, and various forms of splenic invasion...
BACKGROUND
Systemic lupus erythematosus (SLE) is a chronic inflammatory disease primarily affecting young females. SLE can invade any organ, and various forms of splenic invasion have been reported. Manifestations include splenomegaly and splenic infarction, rupture, and calcification. The study encountered a rare case of splenic involvement, with nodules of various sizes without calcifications or ruptures.
CASE SUMMARY
A 15-year-old girl presented with arthralgia, weight loss, fever, increased levels of inflammatory markers, and positive antinuclear antibody test results. The patient was diagnosed with SLE. She was asymptomatic while taking steroids and hydroxychloroquine. Ten months after discharge, the patient developed a fever and abdominal pain. Lupus enteritis was suspected, and abdominopelvic computed tomography (AP-CT) was performed. There were no specific findings in the gastrointestinal tract, but multiple splenic nodules were observed. Infection or hemangioma was considered; however, no specific radiological findings were observed. A biopsy of the spleen was performed to determine the possibility of malignancy. The histological findings of the spleen included extensive periarteriolar necrosis with hematoxylin bodies and numerous karyorrhectic debris. Based on the biopsy results, the patient was diagnosed with an SLE flare-up and was maintained on high-dose steroids and immunosuppressants.
CONCLUSION
As disease activity increased, multiple nodules in the spleen that were previously unseen were observed using AP-CT and histologically confirmed. Spleen invasion by SLE can appear in multiple nodular forms and patterns. Therefore, physicians should consider these findings when differentiating these nodules from infections and malignancies.
PubMed: 38680264
DOI: 10.12998/wjcc.v12.i12.2128