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Radiology Case Reports Jul 2024Left-sided portal hypertension (LSPH) causes varices and splenomegaly due to splenic vein issues. Colonic varices are rare and lack standardized treatment. We report the...
Left-sided portal hypertension (LSPH) causes varices and splenomegaly due to splenic vein issues. Colonic varices are rare and lack standardized treatment. We report the successful treatment of colonic varices caused by LSPH, by addressing both the afferent and efferent veins. A 70-year-old man with distal cholangiocarcinoma had surgery without splenic vein resection, leading to proximal splenic vein stenosis and varices at multiple locations. Percutaneous transhepatic splenic venography revealed that collateral veins flowed into the ascending colonic varices and returned to the portal vein. Complete thrombosis of the varices was achieved by injecting sclerosants and placing coils in both the afferent and efferent veins. The procedure was safe and effective, with no variceal recurrence. This approach provides a minimally invasive option for treating colonic varices associated with LSPH.
PubMed: 38645961
DOI: 10.1016/j.radcr.2024.03.040 -
Orphanet Journal of Rare Diseases Apr 2024Clinical studies on progressive familial intrahepatic cholestasis (PFIC) type 5 caused by mutations in NR1H4 are limited.
BACKGROUND
Clinical studies on progressive familial intrahepatic cholestasis (PFIC) type 5 caused by mutations in NR1H4 are limited.
METHODS
New patients with biallelic NR1H4 variants from our center and all patients from literature were retrospectively analyzed.
RESULTS
Three new patients were identified to be carrying five new variants. Liver phenotypes of our patients manifests as low-γ-glutamyl transferase cholestasis, liver failure and related complications. One patient underwent liver transplantation (LT) and survived, and two other patients died without LT. Nine other patients were collected through literature review. Twelve out of 13 patients showed neonatal jaundice, with the median age of onset being 7 days after birth. Reported clinical manifestations included cholestasis (13/13, 100%), elevated AFP (11/11, 100%), coagulopathy (11/11, 100%), hypoglycemia (9/13, 69%), failure to thrive (8/13, 62%), splenomegaly (7/13, 54%), hyperammonemia (7/13, 54%), and hepatomegaly (6/13, 46%). Six of 13 patients received LT at a median age of 6.2 months, and only one patient died of acute infection at one year after LT. Other 7 patients had no LT and died with a median age of 5 months (range 1.2-8). There were 8 patients with homozygous genotype and 5 patients with compound heterozygous genotype. In total, 13 different variants were detected, and 5 out of 12 single or multiple nucleotides variants were located in exon 5.
CONCLUSIONS
We identified three newly-diagnosed patients and five novel mutations. NR1H4-related PFIC typically cause progressive disease and early death. LT may be the only lifesaving therapy leading to cure.
Topics: Humans; Infant, Newborn; Infant; Retrospective Studies; Cholestasis, Intrahepatic; Cholestasis
PubMed: 38641832
DOI: 10.1186/s13023-024-03166-1 -
Medicine Apr 2024To develop a scheme for distinguishing Kikuchi-Fujimoto disease (KFD) from lymphoma in patients presenting enlarged lymph nodes (LNs) predominantly on the upper side of...
To develop a scheme for distinguishing Kikuchi-Fujimoto disease (KFD) from lymphoma in patients presenting enlarged lymph nodes (LNs) predominantly on the upper side of the diaphragm. From November 2015 to August 2023, 32 KFD patients and 38 lymphoma patients were pathologically confirmed and enrolled in this retrospectively study. Clinical and 18F-fluorodeoxyglucose positron emission tomography (PET)/computed tomography (CT) features were collected. When comparing those PET/CT parameters, we set 5 models with different research objects: (1) all affected LNs; (2) the 5 largest affected LNs in terms of maximum diameter; (3) the 5 largest affected LNs in terms of maximum standard uptake values (SUVmax); (4) the largest affected LNs in terms of maximum diameter; (5) the largest affected LNs in terms of SUVmax. Compared to lymphoma patients, KFD patients were younger; and with higher incidence of fever, arthralgia, abnormal serum white blood cell, lactate dehydrogenase (LDH) and splenomegaly; lower incidence of affected LNs perinodal infiltration, necrosis and conglomeration; more affected LNs in Head and Neck nodes (particularly in level II) and Axillary in KFD (P ˂ .05). PET/CT parameters presented as various difference in each model. Finally, 11 clinical and PET/CT features (age ≤ 34, with fever, arthralgia, abnormal white blood cell, abnormal LDH, and without node necrosis and node conglomeration have a score of 2 each; splenomegaly, perinodal infiltration, median maximum diameter ≤ 20.5 and median SUVmax ≤ 7.1 of affected LNs in model 2 have score of 1 each) were selected as scheme items for distinguishing KFD from lymphoma. Individuals who have a total score > 8, meet the criteria for KFD. Sensitivity and specificity were high: 86.8% (95% CI: 71.9%, 95.5%) and 96.9% (95% CI: 83.7%, 99.5%), AUC = 0.975 (95% CI: 90.5%, 99.6%), respectively. It can effectively distinguish KFD from lymphoma by clinical and PET/CT parameters.
Topics: Humans; Positron Emission Tomography Computed Tomography; Histiocytic Necrotizing Lymphadenitis; Retrospective Studies; Splenomegaly; Lymphoma; Fluorodeoxyglucose F18; Arthralgia; Necrosis; Lymph Nodes
PubMed: 38640333
DOI: 10.1097/MD.0000000000037779 -
ELife Apr 2024High-altitude polycythemia (HAPC) affects individuals living at high altitudes, characterized by increased red blood cells (RBCs) production in response to hypoxic...
High-altitude polycythemia (HAPC) affects individuals living at high altitudes, characterized by increased red blood cells (RBCs) production in response to hypoxic conditions. The exact mechanisms behind HAPC are not fully understood. We utilized a mouse model exposed to hypobaric hypoxia (HH), replicating the environmental conditions experienced at 6000 m above sea level, coupled with in vitro analysis of primary splenic macrophages under 1% O to investigate these mechanisms. Our findings indicate that HH significantly boosts erythropoiesis, leading to erythrocytosis and splenic changes, including initial contraction to splenomegaly over 14 days. A notable decrease in red pulp macrophages (RPMs) in the spleen, essential for RBCs processing, was observed, correlating with increased iron release and signs of ferroptosis. Prolonged exposure to hypoxia further exacerbated these effects, mirrored in human peripheral blood mononuclear cells. Single-cell sequencing showed a marked reduction in macrophage populations, affecting the spleen's ability to clear RBCs and contributing to splenomegaly. Our findings suggest splenic ferroptosis contributes to decreased RPMs, affecting erythrophagocytosis and potentially fostering continuous RBCs production in HAPC. These insights could guide the development of targeted therapies for HAPC, emphasizing the importance of splenic macrophages in disease pathology.
Topics: Animals; Mice; Humans; Spleen; Altitude Sickness; Splenomegaly; Ferroptosis; Leukocytes, Mononuclear; Macrophages; Hypoxia
PubMed: 38629942
DOI: 10.7554/eLife.87496 -
Rheumatology Advances in Practice 2024
PubMed: 38618140
DOI: 10.1093/rap/rkae045 -
Journal of Medical Case Reports Apr 2024Wandering spleen (or ectopic spleen) refers to a hyper-mobile spleen resulting in its displacement from the normal anatomical position to usually in the lower abdominal...
BACKGROUND
Wandering spleen (or ectopic spleen) refers to a hyper-mobile spleen resulting in its displacement from the normal anatomical position to usually in the lower abdominal or pelvic cavity. While ultrasound is often the first radiological modality used, Computed Tomography (CT) shows a clear picture and aides to reach a diagnosis. In circumstances where appropriate imaging modalities are not available, or the operator is inexperienced, diagnosis of wandering spleen can be missed.
CASE PRESENTATION
A 22-nulligravida unmarried Sindhi female had presented to the Emergency Room (ER) with a 5-day history of intermittent severe lower abdominal pain. An ultrasound at a local practitioner had suggested an ovarian cyst. Ultrasound-pelvis and later CT scan at our facility reported an enlarged wandering spleen with torsion of its pedicle and infarction. Exploratory laparotomy with splenectomy was done. An enlarged wandering spleen was found with torsion of the splenic vein and thrombosed arterial supply from omentum wrapped over the mass. The patient developed thrombocytosis post-surgery but otherwise did well and was discharged after 2 days.
CONCLUSION
Splenic torsion secondary to a wandering spleen can be challenging to diagnose, especially in resource limited settings where ultrasound might be the only modality available. Timely diagnosis and proper intervention are key to saving the life and the spleen.
Topics: Female; Humans; Wandering Spleen; Splenic Diseases; Splenomegaly; Ovarian Cysts
PubMed: 38615066
DOI: 10.1186/s13256-024-04502-6 -
International Journal of Molecular... Mar 2024The gut microbiota plays a significant role in tumor pathogenesis by regulating the host metabolism and immune response, and there are few studies focused on tracking...
The gut microbiota plays a significant role in tumor pathogenesis by regulating the host metabolism and immune response, and there are few studies focused on tracking changes in the gut microbiota from the onset of lung cancer. Therefore, the aim of our study is combining preclinical and clinical research to thoroughly analyze the signatures of fecal microbiota in lung cancer, which will be useful for early diagnosis and predicting the therapeutic efficacy of lung cancer. The first part of this study analyzed the fecal metagenomic differences between patients with non-small cell lung cancer and healthy subjects, and the second part of this work constructed a murine lung cancer model to monitor changes in mouse fecal metagenomics and T cell immunology during lung cancer progression. We found that the fecal microbiota was altered in both humans and mice with lung cancer, characterized by a significantly reduced microbial diversity and number of beneficial microbes, with increases in potential pathogens. The fecal level of and the gut metabolic module of the secondary bile acid metabolism were diminished in both humans and mice with lung cancer compared with healthy subjects. Splenomegaly was observed in the lung cancer mice. Flow cytometer analysis of the splenocytes revealed substantial alterations in the proportions of T cell subsets in the lung cancer mice, characterized by significant increases in CD4Foxp3CD25 T regulatory cells ( < 0.05) while significant decreases in CD3 T cells ( < 0.001), CD4 T cells ( < 0.001), and the CD4/CD8 ratio ( < 0.01). Vertical and longitudinal analyses of the fecal microbiota of the two mouse groups identified some lung cancer biomarkers (including , bacterium NSJ-38 sp014337195, etc.). The fecal microbiota of the lung cancer mice had a reduced metagenomic potential for neurotransmitters (melatonin, γ-aminobutyric acid, and histamine) compared with healthy mice. In summary, this study found that the diversity, structure, and composition of gut microbiota vary between cancer and healthy conditions, ultimately leading to changes in the potential for functional metagenomics.
Topics: Humans; Animals; Mice; Carcinoma, Non-Small-Cell Lung; Lung Neoplasms; Gastrointestinal Microbiome; Biomarkers, Tumor; Clostridiales
PubMed: 38612577
DOI: 10.3390/ijms25073768 -
Internal Medicine (Tokyo, Japan) Apr 2024Sialadenitis has rarely been reported in patients with infectious mononucleosis (IM). Our patient was a 22-year-old man who presented with bilateral swelling of the...
Sialadenitis has rarely been reported in patients with infectious mononucleosis (IM). Our patient was a 22-year-old man who presented with bilateral swelling of the parotid and submandibular glands, a fever, malaise, and splenomegaly. Laboratory tests revealed an increased percentage of atypical lymphocytes in the leukocyte fraction. Serological testing for antibodies against Epstein-Barr virus (EBV) revealed an acute infection pattern. The patient was diagnosed with sialadenitis associated with IM caused by EBV infection. With symptomatic treatment, the salivary gland swelling completely resolved within a week. This case suggests that EBV-induced IM should be included in the differential diagnosis of diffuse sialadenitis with elevated atypical lymphocyte counts.
PubMed: 38599874
DOI: 10.2169/internalmedicine.2922-23 -
Journal of Clinical Medicine Mar 2024Clinical findings of hepatomegaly and splenomegaly, the abnormal enlargement of the liver and spleen, respectively, should prompt a broad differential diagnosis that... (Review)
Review
Clinical findings of hepatomegaly and splenomegaly, the abnormal enlargement of the liver and spleen, respectively, should prompt a broad differential diagnosis that includes metabolic, congestive, neoplastic, infectious, toxic, and inflammatory conditions. Among the metabolic diseases, lysosomal storage diseases (LSDs) are a group of rare and ultrarare conditions with a collective incidence of 1 in 5000 live births. LSDs are caused by genetic variants affecting the lysosomal enzymes, transporters, or integral membrane proteins. As a result, abnormal metabolites accumulate in the organelle, leading to dysfunction. Therapeutic advances, including early diagnosis and disease-targeted management, have improved the life expectancy and quality of life of people affected by certain LSDs. To access these new interventions, LSDs must be considered in patients presenting with hepatomegaly and splenomegaly throughout the lifespan. This review article navigates the diagnostic approach for individuals with hepatosplenomegaly particularly focusing on LSDs. We provide hints in the history, physical exam, laboratories, and imaging that may identify LSDs. Additionally, we discuss molecular testing, arguably the preferred confirmatory test (over biopsy), accompanied by enzymatic testing when feasible.
PubMed: 38592278
DOI: 10.3390/jcm13051465 -
Cureus Mar 2024This case report presents a rare and intriguing clinical scenario involving a 63-year-old male with recurrent left-sided hydroureteronephrosis, hypertension, and...
This case report presents a rare and intriguing clinical scenario involving a 63-year-old male with recurrent left-sided hydroureteronephrosis, hypertension, and hyperlipidemia presenting with fatigue, dyspnea, and weight loss. Laboratory findings revealed anemia, basophilic stippling, spherocytosis, and nucleated red blood cells on the peripheral blood smear, raising concerns for hemolysis. Concomitant iron deficiency anemia led to further investigations, revealing gastritis and a colonic mass. A CT scan revealed splenomegaly with an accessory spleen. The histopathological evaluation identified splenic marginal zone lymphoma (MZL) - a diagnosis supported by flow cytometry. Simultaneously, the patient was found to have a moderately differentiated colorectal adenocarcinoma on colonoscopy. This unique case highlights a rare synchronous occurrence of invasive colonic adenocarcinoma with splenule MZL, an unprecedented finding in medical literature.
PubMed: 38590505
DOI: 10.7759/cureus.55843