Liver Function Research Articles

Study of Correlation of Apgar Score and Thompson Score with Hepatic Function in Perinatal Asphyxia Affected Neonates—A Prospective Observational Study

Background: Perinatal asphyxia is one of the leading causes of neonatal morbidity and mortality in the country. It leads to multi-organ failure with brain involvement as the major organ of concern (hypoxic-ischemic encephalopathy). Hepatic dysfunction is also a feature of perinatal asphyxia. Objectives: To detect hepatic dysfunction in birth asphyxia. To correlate the liver damage with increasing severity of birth asphyxia and hypoxic-ischemic encephalopathy through Apgar score and Thompson score. Methods: In this prospective observational study, after ethical clearance and informed consent from the parents, babies of gestational age >35 weeks weighing >1.8 kg, Apgar score <7 at 1 minute received in the newborn unit of a tertiary care hospital in West Bengal, India were enrolled. Thompson’s score was assessed every day. The liver function test of these patients was assessed on days 1, 3, 10, and 15. Ultrasonography of the whole abdomen was performed on days 1 and 14 of life to rule out other probable causes of hepatic injury. Results: A total of 308 neonates were studied, of which Apgar score at 1 minute indicates that 99 (32.14%) of the newborns had severe birth asphyxia and the rest had moderate birth asphyxia. All the liver enzymes except total protein and albumin showed a significant rise on days 1 and 3 with increasing severity of asphyxia. This correlation was seen with Apgar score at 1 minute on day 1 with TSB (r = -0.256, P < .001), AST (r = -0.209, P < .01), ALT (r = -0.178, P < .002), ALP (r = -0.174, P < .002). As per Thompson score, total serum bilirubin, aspartate aminotransferase and alkaline phosphatase showed maximum correlation on days 1 (r = 0.253, P < .001, r = 0.187, P < .001 and r = 0.268, P < .001, respectively) and on day 3 (r = 0.159, P < .005, r = 0.231, P < .001, and r = 0.190, P < .002, respectively). Conclusion: Thompson score and Apgar score can be correlated to perinatal asphyxia-related hepatic injury.

Clinical Characteristics, Nutritional Status, and Disease Severity in Pediatric Patients with COVID-19

Background: Limited clinical data are available regarding the impact of coronavirus disease 2019 (COVID-19) on children. Objective: This study assessed the clinical characteristics, nutritional status, and disease severity in pediatric patients with COVID-19. Methods: A retrospective study examined medical records of children with COVID-19 admitted to Abuzar Hospital (Ahvaz, Iran) for six months. Data related to their clinical, nutritional status and demographic characteristics were documented. Results: This study included medical records of 500 patients. More than half of them were boys. Different levels of COVID-19 severity were observed in 202, 172, and 126 children as mild, moderate, and severe cases, respectively. Children with severe or moderate COVID-19 had substantially elevated levels of various inflammatory markers, blood urea nitrogen (BUN), gamma-glutamyl transferase (GGT), neutrophils, alanine transaminase (ALT), creatinine, bilirubin, and aspartate aminotransferase (AST) compared to those with mild COVID-19 (p < 0.001). They had lower levels of lymphocytes and vitamin D, as well as longer hospital stays than children with mild COVID-19 (p < 0.001). In addition, 52% and 40.2% of patients had malnutrition and anemia, respectively. The majority of underweight and stunted children had moderate or severe COVID-19. Conclusion: This study revealed a high prevalence of malnutrition, anemia, insufficient levels of vitamin D, elevated levels of inflammatory markers, and abnormal liver and kidney function tests in children with severe or moderate cases of COVID-19 compared to those with mild COVID-19.

EP72 - Spontaneous Hepatic subcapsular Biloma Secondary to Choledocholithiasis with concurrent calculous cholecystitis

Abstract Introduction The term "Biloma," introduced in 1979 by Gould and Patel, denotes an encapsulated extrahepatic bile collection primarily caused by iatrogenic or traumatic injuries1. Spontaneous Biloma, a rare non-traumatic occurrence, involves the spontaneous perforation of extrahepatic or intrahepatic bile ducts. In our case report, the spontaneous Biloma developed because of an abrupt increase in bile duct pressure secondary to biliary obstruction because of choledocholithiasis 2. Case Report We present an 85-year-old male with calculous cholecystitis and concurrent choledocholithiasis, leading to acute severe cholangitis. There was no history of surgery, instrumentation, or trauma. He exhibited hemodynamic instability and acute renal failure. Diagnostic tests revealed raised inflammatory markers and deranged liver and kidney functions. CT scans unveiled a large subcapsular liver collection compressing the parenchyma (Figure a &b), alongside dilated intrahepatic biliary radicles, common bile duct, and choledocholithiasis. Treatment Nowadays, treatment for spontaneous Biloma is nonsurgical. Urgent endoscopic drainage and percutaneous transhepatic cholangiogram (PTC) – (Figure c) were performed, followed by ERCP, sphincterotomy, and stone removal (Figure d) once the patient stabilized3. Subsequent CT scans indicated resolution of the subcapsular collection (Figure e). During recovery, the patient experienced a small pulmonary embolism, managed conservatively. Conclusion This case underscores the rare occurrence of spontaneous hepatic subcapsular Biloma associated with choledocholithiasis in an elderly patient. Timely intervention with endoscopic and radiological procedures proved effective, leading to resolution of the Biloma and successful management of causative pathology.

SP1.7 - Cholecystectomy in Children: Tertiary Institutional Review of 10-years

Abstract Aim This study evaluates cholecystectomy necessity in pediatric patients with gallstones, correlating clinical symptoms, diagnostic imaging, histological findings, and postoperative outcomes. Method A decade-long (2013-2023) retrospective analysis at our tertiary Pediatric institution focused on patients aged 0-16 years undergoing cholecystectomy. Data from electronic patient records included demographics, preoperative symptoms, ultrasound findings, liver function tests, associated health conditions, surgical techniques, and postoperative developments. Results Our review encompassed 52 patients (35/52 females). Their ages ranged from 3 to 16 years (median = 13). Recurrent abdominal pain was the predominant symptom, reported in 49 patients. A minority (3 patients) were asymptomatic. 18 patients exhibited jaundice, while 5 cases each were associated with pancreatitis and cholecystitis, both clinically and biochemically. Comorbid conditions were identified in 24 patients, including sickle cell disease (15 cases), hereditary spherocytosis (6 cases), and metachromatic leukodystrophy (3 cases). Ultrasound findings revealed gallstones in 48 out of 52 patients, with the remaining 4 (3 metachromatic leukodystrophy) showing no stones. Histologically, cholecystitis was confirmed in 32 patients, but gallstones were only verified in 34 cases. Laparoscopic cholecystectomy was performed in 49 cases, and 13 of these also involved splenectomy. In 3 cases, laparoscopy was converted to open surgery due to splenectomy-related factors. During follow-up, 2 patients reported recurrent symptoms. One of these, initially diagnosed with chronic cholecystitis, was later found to have irritable bowel syndrome. Another patient required subsequent splenectomy. Conclusion Our study reveals a notable disparity between preoperative ultrasound findings and histological results. Nevertheless, cholecystectomy remains a safe and effective intervention in judiciously selected symptomatic paediatric patients, with most experiencing symptom resolution post-surgery.

Study of platelet activation, hypercoagulable state, and pulmonary hypertension in patients with transfusion-dependent beta-thalassemia

Abstract: BACKGROUND: Thalassemic patients require lifelong blood transfusions, which can lead to complications such as pulmonary arterial hypertension. The pathogenesis involves hypercoagulability, in which researches on coagulation abnormalities in this regard are limited. OBJECTIVES: The aims of the study was to investigate the mechanism of hypercoagulability and pulmonary hypertension in transfusion-dependent thalassemic patients and compare it with healthy controls. PATIENTS MATERIALS AND METHODS: This case–control analysis enrolled 50 transfusion-dependent thalassemia patients and 50 healthy controls. Complete blood counts, liver function tests, coagulation markers (P-selectin, protein C, antithrombin III, and fibrinogen), serum ferritin, and transthoracic echocardiography were performed, and blood transfusion/chelation history and splenectomy status were recorded. RESULTS: Thalassemia patients revealed severe anemia, leukocytosis, thrombocytosis, significantly elevated serum ferritin (1957.50 ± 2455.05 g/L), elevated liver enzymes serum glutamic oxaloacetic transaminase (22.01 ± 9.89 U/L), serum glutamic pyruvic transaminase (22.70 ± 9.78 U/L) in comparison to controls, and mean serum P-selectin was significantly higher in thalassemic patients (100.48 ± 53.29 ng/mL). Mean serum antithrombin-III and protein C were significantly lower in thalassemic patients (89.27 ± 16.08 units/h, 86.04 ± 25.21 μg/mL) in comparison to controls. CONCLUSIONS: Transfusion-dependent thalassemia is characterized by severe anemia and splenomegaly, leading to complex hemodynamic changes with evidence of platelet activation, hypercoagulable state, liver injury, and increased atherosclerosis. It induces pulmonary artery thrombosis contributing to the development of pulmonary artery hypertension.

Microfluidic point-of-care testing device for multiplexed detection of liver function blood markers

In this work, we developed a novel microfluidic paper-based analytical device to quantify the blood markers of liver function from human fingertips and whole blood samples. The device can quickly acquire information for screening liver injury and supporting clinical decision-making by simultaneously performing quantitative tests for alanine aminotransferase, aspartate aminotransferase, and albumin. We evaluated the detection accuracy and the storage stability of the device using fingertip samples. The yielded results of our device correlated well with those from Mindray BS350s, even under the conditions of 35 °C and 90%RH. Thus, it offers an effective platform for clinical assessment of liver injury particularly in resource-limited areas.

ThP5.13 - Lessons learnt from a neuroendocrine tumour presenting as choledocholithiasis

Abstract A 79 year old male presented to A&E with obstructive jaundice. A computerised tomography (CT) scan of his abdomen and pelvis showed intra- and extra-hepatic duct dilation, a small calculus within the lumen of the common bile duct (CBD), and gallbladder distension. His liver function tests were deranged, with an alkaline phosphatase of 280IU/L. Successful stone retrieval was achieved by endoscopic retrograde cholangiopancreatography (ERCP), with an interim CBD stent inserted. Within the same admission, the patient underwent an uncomplicated emergency cholecystectomy. Histological analysis highlighted moderate chronic inflammation and fibromuscular hyperplasia, cholesterolosis, and ruled out dysplasia or malignancy. Four weeks later, the patient re-presented with septic obstructive jaundice. A repeat CT scan identified a dilated CBD of 2.2cm, suggesting an occluded stent. On ERCP for stent removal, ampulla narrowing was identified, hence concurrent brush cytology was performed. Due to clinical suspicion, a CT Positron emission tomography (PET) was requested, which identified metabolically active disseminated malignancy, likely pancreatic in origin, and with nodal, liver, and likely peritoneal metastases. A Ca 19-9 subsequently came back raised at 157 kIU/L. Liver biopsy confirmed a poorly differentiated neuroendocrine carcinoma (NEC) with intermediate features between small and large cell NEC. In such cases with discrepancies between treatment success and lack of biochemical improvement, a low threshold of suspicion for further investigation and oncological consideration is imperative.

ThP5.10 - Post ERCP Pancreatitis at a Tertiary Center - A Retrospective Incidence and Causal Analysis

Abstract Background Incidence of Post Endoscopic Retrograde Cholangio-Pancreatography (ERCP) Pancreatitis (PEP) varies between 3.5% and 9.7% as per the 2014 meta-analyses. Our aim was to evaluate the incidence, perform a causal analysis and gauge the financial implications of PEP in our hospital for general surgical patients to help optimise the utilisation of resources. Methods All General Surgical patients who had ERCP between 01/10/2022 and 31/03/2023 were included in the analysis. A successful ERCP was defined as cannulation of the biliary tree. The digital patient records were analysed and collected onto a master datasheet. They were divided into PEP and non-PEP groups. Results A total of 131/155 attempted ERCPs were successful. Of these 131, 13 (9.92%) developed PEP. Females were predominantly affected. Three out of six patients (50%) undergoing ERCP for malignant biliary obstructions developed PEP. Elective ERCPs (15% vs 6.5%) and higher mean bilirubin levels >= 134.92 µmol/L posed a greater risk of developing PEP (p-value=0.021). The mean hospital stay was 3.5 days longer (2-49 days) in the PEP group. The total extra cost to the NHS ranged from £20,475 - £35,763 over 6 months. Conclusion Patients with gallstone disease should receive prompt cholecystectomy in adherence to NICE guidelines to reduce the risk of gallstone-related problems and ERCP need. This in turn would lead to a reduction in PEP and positively affect the financial implications on the NHS. We also recommend a randomised control trial for patients with grossly deranged liver function tests to compare ERCP with laparoscopic cholecystectomy and common bile duct explorations combined.

Investigating the Protective Effects of Ascorbic Acid Against Paracetamol-induced Liver Toxicity in Wistar Rats

Paracetamol is one of the most widely used analgesics and antipyretics but can cause severe liver damage at high doses. This study explores the potential protective effects of ascorbic acid (vitamin C) against paracetamol-induced hepatotoxicity in Wistar rats. For this experimental study, 25 mature male Wistar rats, weighing 140–180g, were divided into five groups: Group 1 stands for the Normal Control. Group 2 received 25 mg of PCM for 21 days, whereas Group 3 received 500 mg of ascorbic acid. Furthermore, after PCM was given, rats in groups 4 and 5 were given 500 mg and 1000 mg of ascorbic acid, respectively. Following PCM and Ascorbic acid treatment, biochemical parameters and histoarchitectural studies were examined. Histopathological examination of liver tissue was performed to evaluate cellular architecture and damage. Results indicated that treatment with ascorbic acid significantly mitigated the elevation of liver enzymes and histopathological changes compared to the paracetamol-only group. In conclusion, the research underscores the potential role of ascorbic acid in safeguarding liver function.

The Role of RNA Splicing in Liver Function and Disease: A Focus on Metabolic Dysfunction-Associated Steatotic Liver Disease

RNA splicing is an essential post-transcriptional mechanism that facilitates the excision of introns and the connection of exons to produce mature mRNA, which is essential for gene expression and proteomic diversity. In the liver, precise splicing regulation is critical for maintaining metabolic balance, detoxification, and protein synthesis. This review explores the mechanisms of RNA splicing and the role of splicing factors, particularly in the context of Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD). This review also highlights how RNA splicing dysregulation can lead to aberrant splicing and impact the progression of liver diseases such as MASLD, with a particular focus on Metabolic Dysfunction-Associated Steatohepatitis (MASH), which represents the advanced stage of MASLD. Recent advances in the clinical application of antisense oligonucleotides (ASOs) to correct splicing errors offer promising therapeutic strategies for restoring normal liver function. Additionally, the dysregulation of splicing observed in liver diseases may serve as a potential diagnostic marker, offering new opportunities for early identification of individuals more susceptible to disease progression. This review provides insights into the molecular mechanisms that govern splicing regulation in the liver, with a particular emphasis on MASLD, and discusses potential therapeutic approaches targeting RNA splicing to treat MASLD and related metabolic disorders.

Empagliflozin add‐on therapy is superior to metformin monotherapy in diabetic patients with NAFLD: An open‐label, single‐center, pilot clinical trial

AbstractBackgroundThe prevalence of non‐alcoholic fatty liver disease (NAFLD), which is characterized by hepatic steatosis, inflammation, and advanced fibrosis, is high among type‐2 diabetes mellitus (T2DM) patients. Empagliflozin (EMPA), a sodium‐glucose cotransporter‐2 inhibitor, has been well established to improve glycemic status in T2DM. However, evidence of the desirable effects of EMPA, when added to the standard treatment in diabetics with coexisting NAFLD, has yet to be determined.ObjectiveThe main objective of the current study is to explore the benefits of EMPA on hepatic fat content in patients with T2DM and NAFLD, who received metformin (MET) monotherapy.MethodsIn this open‐label clinical trial study, 60 patients with T2DM and NAFLD were assigned to either the MET + EMPA or MET group in an up‐titrated manner for 24 weeks. Anthropometric characteristics, blood glucose indices, lipid profile, liver enzymes, and steatosis grades were measured at baseline and 24 weeks after the intervention.ResultsThe results showed that in patients with a mean age of 53.26 ± 7.64 who received MET+ EMPA, all the parameters had a greater decrease than the MET group. In addition, the reduction of FBS, BS, HbA1C, TG, and ALT had a statistically significant difference between the two groups after 24 weeks follow‐up (p < 0.05). Notably, in the MET+ EMPA group, there was a substantial improvement in steatosis grades based on the fibroscan and ultrasound modality results.ConclusionThe EMPA add‐on therapeutic schedule in uncontrolled T2DM patients with NAFLD significantly ameliorated steatosis stages, liver function, anthropometric features, and biochemical parameters.

The use of Moringa leaves extract in rabbit diets: its effect on performance, lipid profile, kidney and liver function, immunity, antioxidant, digestive enzymes, and cecal microbiota

Abstract This study evaluated the role of Moringa oleifera leaves extract (MOLEx) in improving the performance and health of rabbits during the fattening period. The growth, carcass measurements, serum immunity, lipid profile, liver and kidney functions, digestive enzymes, antioxidant condition, cecal microbiota of rabbits have been examined. A total of 100 New Zealand White male rabbits (5-week-old) were randomly distributed into five groups and were fed on the basal diet only or the basal diet supplemented with graded levels of MOLEx (1, 2, 3 or 4 g/kg diet) for 8 weeks. Animals in each group were divided into 10 replicates, with two animals each. Results showed that dietary supplementation of MOLEx at levels of 1, 3 and 4 g/kg feed improved growth performance (p < 0.05) including LBW (7, 9, 11, 13 weeks), BWG (5-13 weeks) and FCR (11-13 and 5-13 weeks). The inclusion of MOLEx in rabbits feed (3 and 4 g/kg) increased carcass%, dressing% and spleen% and decreased duodenum pH and cecal pH. Abdominal fat% was significantly lowered after the treatment with MOLEx. Lipid profile, liver and kidney functions, and cecal microbiota (increasing beneficial bacteria and reducing harmful bacteria) of growing rabbits were positively affected by MOLEx levels. The dietary supplementation of MOLEx improved most of antioxidant biomarkers of growing rabbits. The dietary supplementation of MOLEx (2, 3 and 4 g/kg) increased immunological indicators (IgM, IgG, IgA, lysozyme and complement 3), and lowered cortisol level compared with the control group. Digestive enzymes (protease, lipase and amylase) activities of rabbits positively affected by MOLEx levels (3 and 4 g/kg feed). In conclusion, the inclusion of MOLEx in rabbits feed can be effective in improving productive performance, kidney and liver functions, digestive enzymes, antioxidant biomarkers, immunological indicators, cecal microbiota and carcass traits.

Impact of Chronic Beryllium Exposure on Liver and Lung Function and Hematologic Parameters

Beryllium is a lightweight metal that is toxic to humans. The critical health effects related to beryllium exposure are liver toxicity, immune system toxicity, and chronic beryllium disease (CBD). This study investigated the effects of occupational beryllium exposure on liver and lung function and hematologic parameters among beryllium smelter workers. A cross-sectional study was performed by comparing 65 exposed workers and 34 non-exposed workers. Health information was collected through questionnaire surveys and biochemical tests. The concentration of urinary beryllium was determined by Inductively Coupled Plasma Mass Spectrometry (ICP-MS). The findings indicated that the urinary beryllium levels of the exposed workers and the controls were 0.48 (0.115, 1.19) μg/mL and 0.0125 (0.005, 0.005) μg/mL, respectively (p < 0.001). Compared with the controls, the exposed workers showed a significant increase in serum alanine aminotransferase (ALT) level, hemoglobin (HGB) concentration, white blood cell (WBC) count, red blood cell (RBC) count, and systolic and diastolic blood pressure (SBP, DBP) (p < 0.05). Furthermore, the HGB concentration and ALT level were significantly correlated with the concentration of beryllium in urine (p < 0.05). The exposed workers had increased urinary concentrations of beryllium, in contrast to the control subjects. Moreover, the urinary beryllium levels among the exposed workers are much higher than that in the Chinese general population. Beryllium-exposed workers may be at risk of liver and hematologic impairments.

Oncologic outcomes and rates of hepatotoxicity following stereotactic body radiotherapy for hepatocellular carcinoma

Aim: Hepatocellular carcinoma (HCC) localized to the liver has various treatment options, including external beam radiotherapy (EBRT). Despite many prospective and retrospective reports showing excellent local control (LC) and favorable toxicity, EBRT has not been widely adopted in the first-line setting and this may be due to a perceived lack of evidence. This study aims to share a decade of experience with Stereotactic Body Radiotherapy (SBRT) for HCC, leveraging a homogenous treatment technique. Methods: This retrospective study at a single institution included patients with HCC treated with SBRT, with a standardized treatment protocol. Freedom from local progression (FFLP), overall survival (OS), and rates of hepatotoxicity post-treatment using child-pugh (CP) and albumin-bilirubin (ALBI) scores were analyzed. A mixed-effects multivariable analysis (MVA) was also performed to assess various factors’ impact on outcomes. Results: A total of 138 lesions in 106 patients were treated between 2009 and 2020. FFLP was 91% at one year and 86% at three years. OS was 80% and 46% at 1 and 3 years, respectively. Baseline liver function was a significant predictor of FFLP and OS on MVA. CP scores and ALBI grades were stable 3 months after treatment in ≥ 70% of patients. Conclusion: SBRT provides excellent LC and low toxicity for HCC patients. While long-term survival remains challenging, treatment decisions should consider overall clinical status. Multidisciplinary review and forthcoming prospective trial results will further clarify radiotherapy’s role in HCC management.

Association between self-reported sleep apnea and biomarkers of liver injury: Evidence from National Health and Nutrition Examination Survey.

The community population based studies on the relationship between obstructive sleep apnea and liver injury are limited. The study aimed to clarify the association between sleep apnea (SA) and liver injury by using the data in The National Health and Nutrition Examination Survey. SA was assessed by the sleep questionnaire and liver injury was evaluated by liver function test, hepatic steatosis index, and fibrosis-4. Weighted multivariable linear regression was performed to examine the association between SA and liver injury. Subgroup analyses and sensitivity analysis were also conducted. A total of 19,362 eligible participants were included in the study. After adjusting for confounders, the presence of SA was significantly associated with increased levels of lnALT, lnAST/alanine aminotransferase, lnGGT, and lnHSI (all P values < .05), but not with lnFIB-4 (P > .05). There is a dose-response relationship between the severity of SA and increased levels of lnALT, lnGGT, and decreased levels of lnAST/alanine aminotransferase (test for trend, all P values < .05). Subgroup analyses revealed that the positive association between SA and liver function, liver steatosis showed a tendency to exist in nonobese, younger, non-Hispanic Black, and male populations. Sensitive analysis showed the relationship between SA and liver injury was stable. Self-reported SA was independently associated with elevated liver enzymes and liver steatosis among US population. The association was more pronounced among nonobese, younger, non-Hispanic Black, and male populations.

A case report of Stevens-Johnson syndrome caused by omeprazole.

Stevens-Johnson syndrome (SJS) is a rare but severe skin-mucosal reaction with a high mortality rate. It is characterized by sudden, painful blistering lesions on the skin, often accompanied by high fever and systemic toxicity. Lesions typically appear on the dorsal surfaces of the hands, feet, forearms, legs, and soles of the feet. They can also affect the conjunctiva, oral mucosa, labial mucosa, and vaginal mucosa. Patients may experience complications such as pneumonia, severe comorbidities, and liver and renal failure. A 51-year-old female patient was admitted to the hospital due to "abdominal distention and skin yellowing for 20 days." After using omeprazole, she developed a rash all over her body, and her liver function further deteriorated, ultimately leading to chronic acute liver failure. The diagnosis included fever, rash suspected to be drug-induced, chronic and acute liver failure, and decompensation of post-Hepatitis B cirrhosis. During hospitalization, suspected adverse drug reactions were discontinued, and symptomatic supportive treatment with methylprednisolone and fluid replacement was promptly provided. The patient's symptoms and follow-up showed that the rash disappeared and liver and kidney function improved significantly after treatment. We explored how chronic acute liver failure can cause immune system abnormalities and immune paralysis in patients, manifested as susceptibility to infection. This case report describes a drug-induced allergic reaction - SJS - in patients with chronic acute liver failure, as well as subsequent treatment, including hormone dosage and treatment duration. I hope this report will help enrich the relevant literature on drug-induced SJS combined with chronic and acute liver failure, laying the foundation for improving the survival rate of patients with the disease.

Analysis of long-term outcome of modified gastric bypass for type 2 diabetes mellitus in Chinese patients.

Bariatric and metabolic surgery have been routinely performed following the rapid increase in obesity and metabolic diseases worldwide. Of all evolving procedures, Roux-en-Y gastric bypass (RYGB) is considered the gold standard for surgical treatment of patients with type 2 diabetes mellitus (T2DM) and obesity. RYGB was introduced in China nearly 20 years ago, but the number of RYGB surgeries only accounts for 3.1% of the total number of weight loss and metabolic surgeries in China, it's effect on Chinese people still needs further study. To investigate the effect and safety of a modified gastric bypass performed in Chinese patients with T2DM. Patients with obesity and T2DM who underwent modified gastric bypass, with > 5-year follow-up data, were analyzed. All 37 patients underwent uneventful laparoscopic surgery, no patient was switched to laparotomy during the surgery, and no severe complications were reported. Average weight and body mass index of the patients reduced from 84.6 ± 17.3 (60.0-140.0) kg and 30.9 ± 5.0 (24.7-46.2) kg/m2 to 67.1 ± 12.2 (24.7-46.2) kg and 24.6 ± 3.9 (17.7-36.5) kg/m2, respectively, and fasting plasma glucose and glycated hemoglobin decreased from 7.4 ± 3.4 mmol/L and 8.2% ± 1.7% preoperatively to 6.5 ± 1.3 mmol/L and 6.5% ± 0.9% 5-years postoperatively, respectively. Only 29.7% (11/37) of the patients used hypoglycemic drugs 5-years postoperatively, and the complete remission rate of T2DM was 29.7% (11/37). Triglyceride level reduced significantly but high-density lipoprotein increased significantly (both P < 0.05) compared with those during the preoperative period. Liver and renal function improved significantly postoperatively, and binary logistic regression analysis revealed that the patients' preoperative history of T2DM and fasting C-peptide were significant prognostic factors influencing complete T2DM remission after RYGB (P = 0.006 and 0.012, respectively). The modified gastric bypass is a safe and feasible procedure for Chinese patients with obesity and T2DM, exhibiting satisfactory amelioration of weight problems, hyperglycemia, and combination disease.

Shwachman-Diamond syndrome: A case report.

Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive genetic disease, the diagnosis is a big challenge for clinician, as the clinical manifestations of the disease are diverse. Here, we report a girl who diagnosed with SDS with the symptoms of recurrent fever, elevated transaminase levels, and granulocytosis. The aspects of diagnosis and treatment were discussed and a literature review was conducted. A 15-month-old girl admitted to our hospital because of recurrent fever, granulocytopenia, and elevated transaminase levels. The compound heterozygous variant of Shwachman-Bodian-Diamond syndrome c.258 + 2T > C:p.84Cfs3 and c.96C > G:p.Y32* were detected after sequencing the blood samples from the patient and her parents. Finally, she was diagnosed with SDS and she was treated with compound glycyrrhizin, granulocyte-colony stimulating factor, and antibiotic in the case of co-infection. During the follow-up, her liver function showed the level of transaminases decreased and she rarely had infection after the age of 15 months although neutropenia is still present. Patients with SDS lacks typical clinical symptoms, which presents a huge challenge for clinicians. Genetic testing techniques is playing an important role in the diagnosis of diseases. This patient without typical clinical manifestations such as exocrine pancreatic insufficiency and skeletal abnormality, we report this case aimed to strengthen the understanding of the disease.

Liver-related aspects of valoctocogene roxaparvovec gene therapy for hemophilia A: expert guidance for clinical practice

AbstractAdeno-associated virus–based gene therapy (valoctocogene roxaparvovec) is an attractive treatment for hemophilia A. Careful clinical management is required to minimize the risk of hepatotoxicity, including assessment of baseline liver condition to determine treatment eligibility and monitoring liver function after gene therapy. This article describes recommendations (developed by a group of hemophilia experts) on hepatic function monitoring before and after gene therapy. To prevent harmful liver-related effects, gene therapy is contraindicated in patients with uncontrolled liver infections, autoimmune hepatitis, liver stiffness ≥8 kPa, or cirrhosis. Before using gene therapy in patients with liver steatosis or other liver disorders, the risk of liver damage should be considered using a highly individualized approach. Treatment is not recommended in patients with abnormal liver enzymes, including alanine aminotransferase (ALT) at any level above the upper limit of normal (ULN). Therefore, pretreatment assessment of liver health should include laboratory tests, abdominal ultrasound, and liver stiffness measurements by transient elastography (TE). In the first year after therapy, ALT levels should be monitored 1 to 2 times per week to detect elevations ≥1.5× ULN, which may require immunosuppressant therapy. Patients with ALT elevation should receive prednisone 60 mg/d for 2 weeks, followed by stepwise tapering when ALT returns to baseline. ALT monitoring should continue long term (every 3-6 months), along with abdominal ultrasound (every 6 months) and TE (yearly) evaluations. When patients with good liver health are selected for treatment and closely monitored thereafter, ALT elevations can be promptly treated and are expected to resolve without long-term hepatic sequelae.

Birthweight influences liver structure, function and disease risk: Evidence of a causal association.

Low birthweight is an issue during pregnancy associated with an increased risk of developing liver disease later in life. Previous Mendelian randomisation (MR) studies which explored this issue have not isolated the direct impact of the foetus on birthweight. In the present study, MR was used to assess whether direct foetal effects on birthweight were causally associated with liver structure, function and disease risk independent of intrauterine effects. We extracted single nucleotide polymorphisms (SNPs) from genome-wide association studies (GWAS) about direct foetal-affected birthweight (321 223 cases) to conduct univariable and multivariable MR analyses to explore the relationships between birthweight and 4 liver structure measures, 9 liver function measures and 18 liver diseases. A two-step MR analysis was used to further assess and quantify the mediating effects of the mediators. When isolating direct foetal effects, genetically predicted lower birthweight was associated with a higher risk of non-alcoholic fatty liver disease (NAFLD) (odds ratios [OR], 95% confidence interval [CI]: 1.61, 1.29-2.02, p < 0.001), higher magnetic resonance imaging [MRI] proton density fat fraction (PDFF) and higher serum gamma glutamyltransferase (GGT). Two-step MR identified two candidate mediators that partially mediate the direct foetal effect of lower birthweight on NAFLD, including fasting insulin (proportion mediated: 22.29%) and triglycerides (6.50%). Our MR analysis reveals a direct causal association between lower birthweight and liver MRI PDFF, as well as the development of NAFLD, which persisted even after accounting for the potential influence of maternal factors. In addition, we identified fasting insulin and triglycerides as mediators linking birthweight and hepatic outcomes, providing insights for early clinical interventions.