Primary sclerosing cholangitis (PSC), a rare progressive liver disease characterized by cholestasis and bile duct fibrosis, has no accepted, effective therapy known to delay or arrest its progression. We report a 15 year old female patient diagnosed with PSC and moderate chronic active ulcerative colitis (UC) who achieved normalization of her liver enzymes and bile ducts, and resolution of her UC symptoms with colonic mucosal healing, after treatment with a single drug therapy of the antibiotic oral vancomycin. We postulate that the oral vancomycin may be acting both as an antibiotic by altering the intestinal microbiome and as an immunomodulator. Oral vancomycin may be a promising treatment for PSC that needs to be further studied in randomized trials.
Bile Ducts ; Child* ; Cholangitis, Sclerosing* ; Cholestasis ; Colitis, Ulcerative* ; Colon ; Drug Therapy ; Female ; Fibrosis ; Gastrointestinal Microbiome ; Humans ; Liver ; Liver Diseases ; Ulcer* ; Vancomycin*

Intrinsically disordered proteins (IDPs) are an important class of proteins in all domains of life for their functional importance. However, how nature has shaped the disorder potential of prokaryotic and eukaryotic proteins is still not clearly known. Randomly generated sequences are free of any selective constraints, thus these sequences are commonly used as null models. Considering different types of random protein models, here we seek to understand how the disorder potential of natural eukaryotic and prokaryotic proteins differs from random sequences. Comparing proteome-wide disorder content between real and random sequences of 12 model organisms, we noticed that eukaryotic proteins are enriched in disordered regions compared to random sequences, but in prokaryotes such regions are depleted. By analyzing the position-wise disorder profile, we show that there is a generally higher disorder near the N- and C-terminal regions of eukaryotic proteins as compared to the random models;however, either no or a weak such trend was found in prokaryotic proteins. Moreover, here we show that this preference is not caused by the amino acid or nucleotide composition at the respective sites. Instead, these regions were found to be endowed with a higher fraction of protein-protein binding sites, suggesting their functional importance. We discuss several possible explanations for this pattern, such as improving the efficiency of protein-protein interaction, ribosome movement during translation, and post-translational modification. However, further studies are needed to clearly understand the biophysical mechanisms causing the trend.

The coexistence of Wilson disease with Alport syndrome has not previously been reported. The diagnosis of Wilson disease and its ongoing monitoring is challenging when associated with an underlying renal disease such as Alport syndrome. Proteinuria can lead to low ceruloplasmin since it is among serum proteins inappropriately filtered by the damaged glomerulus, and can also lead to increased urinary loss of heavy metals such as zinc and copper. Elevated transaminases may be attributed to dyslipidemia or drug induced hepatotoxicity. The accurate diagnosis of Wilson disease is essential for targeted therapy and improved prognosis. We describe a patient with a diagnosis of Alport syndrome who has had chronic elevation of transaminases eventually diagnosed with Wilson disease based on liver histology and genetics.
Blood Proteins ; Ceruloplasmin ; Copper ; Diagnosis ; Dyslipidemias ; Genetics ; Hepatolenticular Degeneration* ; Humans ; Liver ; Metals, Heavy ; Nephritis, Hereditary ; Prognosis ; Proteinuria* ; Transaminases ; Zinc

PURPOSE: There is a lack of scholarly reports on pediatric emergency department (PED) exposure to hyperbilirubinemia. We aimed to describe the epidemiology of hyperbilirubinemia in patients presenting to a PED over a three-year period. METHODS: This was a retrospective cohort study, completed at an urban quaternary academic PED. Patients were included if they presented to the PED from 2010 to 2012, were 0 to 18 years in age, and had an elevated serum bilirubin for age. A chart review was completed to determine the incidence of hyperbilirubinemia, etiology, diagnostic work up and prognosis. The data set was stratified into four age ranges. RESULTS: We identified 1,534 visits where a patient was found to have hyperbilirubinemia (0.8% of all visits). In 47.7% of patients hyperbilirubinemia was determined to have arisen from an identifiable pathologic etiology (0.38% of all visits). First-time diagnosis of pathologic hyperbilirubinemia occurred in 14% of hyperbilirubinemia visits (0.11% of all visits). There were varying etiologies of hyperbilirubinemia across age groups but a male predominance in all (55.0%). 15 patients went on to have a liver transplant and 20 patients died. First-time pathologic hyperbilirubinemia patients had a mortality rate of 0.95% for their initial hospitalization. CONCLUSION: Hyperbilirubinemia was not a common presentation to the PED and a minority of cases were pathologic in etiology. The etiologies of hyperbilirubinemia varied across each of our study age groups. A new discovery of pathologic hyperbilirubinemia and progression to liver transplant or death during the initial presentation was extremely rare.
Bilirubin ; Cohort Studies ; Dataset ; Diagnosis ; Emergencies* ; Emergency Medicine ; Emergency Service, Hospital* ; Epidemiology* ; Hospitalization ; Humans ; Hyperbilirubinemia* ; Incidence ; Liver ; Male ; Mortality ; Pediatrics ; Prognosis ; Retrospective Studies

The Rapid Assessment of Avoidable Blindness (RAAB) has been developed as a simple and rapidsurvey methodology that can provide data on the prevalence and main causes of blindness.AimTo assess the prevalence and main causes of avoidable blindness and visual impairment in peopleaged 50 and above in Mongolia.MethodsThe RAAB uses a standard methodology which is documented in the RAAB Instruction Manual (HansLimburg, International Centre for Eye Health, London School of Hygiene and Tropical Medicine).Assuming an estimated prevalence of blindness in persons aged 50+ of 2.14% and a non-complianceof 5%, with a variation to 25% around the estimate of 2.14% at 95% probability, the required samplesize was calculated at 4,040: 101 clusters of size 40. Visual acuity (VA) was measured with a Snellentumbling E chart, using optotype size 18 (60) on one side and size 60 (200) on the other side. Thelens status of all participants was assessed by both torch and distant direct ophthalmoscopy, by anophthalmologist in a shaded or dark environment. The data were analyzed using RAAB Version 4.02(ICEH, London) for pre-defined reports relating to both crude and age and gender adjusted results.ResultsThe survey included 4,040 people aged 50 years and older, of whom 4,029 were actually examined.The coverage was 99.7%. 7 persons (0.2%) were absent and 4 (0.1%) refused to participate in thestudy. The prevalence of bilateral blindness with available correction in the better eye is 2.2 % (95% CI,1.7 - 2.7%); 2.4% in males and 2.2% in females. The prevalence of bilateral severe visual impairment(SVI) is 2.1% and bilateral moderate visual impairment (MVI) is 10.8%. The prevalence of functionallow vision, requiring low vision services, is 4.5%. In people aged 50+, untreated cataract is the mostcommon cause of bilateral blindness with 38.9%, followed by glaucoma (20.0%), non-trachomatouscorneal opacity (13.3%), and other posterior segment disease (7.8%).Conclusion: Untreated cataract and uncorrected refractive errors are the major causes of avoidableblindness and low vision in Mongolia, respectively. Priority should be given to cataract surgery,followed by the development of optical services and PHC and PEC services, as these are the mostcost-effective interventions. These three interventions will address about three thirds (67.8%) of thecauses of blindness and have most impact.

Purpose: To better understand the benefits and harms of engagement with online pediatric liver disease communities within social media. Methods: We conducted a survey of caregivers of children with liver disease participating in online pediatric liver disease communities within social media, as well as a survey of healthcare providers (e.g., physicians, surgeons, nurse coordinators) from this field to better understand the perceived benefits and harms of participation. Results: Among 138 caregivers of children with liver disease that completed the survey, 97.8% agreed social media was a good place to learn about patient experiences and 88% agreed it was a good source of general information. Among caregivers, 84.8% agreed social media helps them to better advocate for their child. While 18% agreed that the information over social media was equal to the information from their healthcare team and 19% neither agreed/disagreed, only 3% indicated they would use this information to change care without telling their provider; in contrast, among 217 healthcare providers, 55% believed social media may lead caregivers to change management without telling their team. Conclusion Engagement with online disease-specific communities in social media yields several benefits for caregivers and, in contrast to healthcare providers' concerns, participation is unlikely to lead to problems including caregivers changing the treatment plan without first discussing these plans with their team. Openness between caregivers and medical teams about the role for social media can help to improve trust and maximize the potential benefits of engagement with these groups.

Background: Acute-on-chronic liver failure (ACLF) is a clinical syndrome seen in patients with decompensated cirrhosis, marked by organ failure and high risk of mortality. In Mongolia, liver cirrhosis and chronic liver disease are among the leading causes of death, with mortality rates four times higher than the global average. Despite this, full data on ACLF in the country remains insufficient. Aim : This study aims to determine the prevalence, etiology, and outcomes of ACLF in patients admitted with acute de compensated liver cirrhosis. Materials and Methods : This retrospective registry study analyzed all hospital admissions at the Mongolia-Japan Hos pital from Jan 1, 2022, to Dec 31, 2024. Definitions from the European Association for the Study of the Liver (EASL) and the Chronic Liver Failure Consortium (EASL-CLIF) were used. Organ failure was assessed using the adapted Chronic Liver Failure-Organ Failure (CLIF-OF) score. Patients with malignancies meeting the Milan criteria were excluded. Results : A total of 83 patients were included, of whom 41% (n=34) met the ACLF criteria. Among ACLF patients, 58.8% were male, with a median age of 52 years. The most common underlying cause of cirrhosis was viral hepatitis B and D. The main triggers for ACLF were infection (50%) and alcoholic hepatitis (20.6%). ACLF grades were as follows: 29.4% for Grade 1, 29.4% for Grade 2, and 41.1% for Grade 3. The overall in-hospital mortality rate was 28.9%, but it was significantly higher in the ACLF group (75%) compared to the non-ACLF group (25%). Mortality rates increased with ACLF grade: 20% for Grade 1, 50% for Grade 2, and 78.6% for Grade 3 (p < 0.00001). Conclusion 1. The prevalence of acute-on-chronic liver failure (ACLF) among patients with decompensated cirrhosis was 41%, with a notably high in-hospital mortality rate of 52.9%. 2. Bacterial infections, rather than hepatic insults, were the leading precipitating factors for ACLF, accounting for 50% of the cases.

Background: A rare angioproliferative condition of the larynx, Kaposhi sarcoma typically affects the skin. Immunosuppressive treatment following organ transplantation and human immunodeficiency virus infection are the causes. Every type of Kaposi sarcoma has human herpesvirus-8. Laryngeal kaposi sarcoma is uncommon in immunocompromised patients; since its initial identification in 1965, 18 cases have been documented globally. A CO2 laser-assisted laryngeal microsurgery is performed through the mouth cavity to remove tumor when kaposi sarcoma of the larynx obstructs the airway. Case report: A 77-year-old woman complained of hoarseness, dry mouth, odynophagia, and dysphagia three months prior when she arrived at the Mongolian-Japan Hospital. Two years ago, she acquired hard, sensitive lumps that were palpable on her right arm, left ankle, and right thigh. At that time, she was diagnosed with Kaposiform hemangiodermatitis and treated at the National Center for Dermatology. HIV test results were negative. Immunohistochemistry: CD31 +/-, CD34 /+/. Using flexible nasopharyngeal endoscopy to get the diagnosis: There was a mass that was about 1.5–2–5 cm in diameter, bluish in color, smooth and movable, and spongy and vascular on the larynx, on the nasopharynx, behind the palatine tonsills, and supraglottic. Surgery: Through the use of Kleinsasser laryngoscopy and a 0-degree endoscope, pathological tissues were extracted under general anesthesia using a laryngeal microsurgical instrument and a laparoscopic bipolar coagulator. The tissues were then sent for histological evaluation, which revealed Kaposi sarcoma, sarcoma grade 1. Results of treatment Pain decreased and quality of life increased following surgery. Upon nasopharyngeal endoscopy, the vocal cord mobility was normal and the surgical incision was clean. Conclusion: Kaposi sarcoma is an extremely uncommon illness. A lower quality of life and further issues can be avoided with an early diagnosis and suitable therapy. It also needs to be continuously monitored because it is a potentially repeatable disease.