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Aim: The aim of this study was to conduct a metabolic and nutritional assessment of children with neuromuscular disorders, including the investigation of the liver and bone mineral density., Methods: In this observational study, we included 44 children with neuromuscular disorders. The nutritional status, bone health and liver were assessed by ultrasound, transient elastography, dual X-ray absorptiometry scan, blood samples, anthropometric measurements and 3-day diet registration., Results: Liver involvement was found in 31.0%: liver enlargement in 7.1%, steatosis in 4.8%, fibrosis in 14.3% and liver enlargement together with steatosis or fibrosis was found in 4.8%. These changes were found in 9/23 patients with Duchenne muscular dystrophy, 4/9 patients with spinal muscular atrophy type II and 0/12 patients with other neuromuscular diagnoses. Low bone mineral density was found in 44.0% of the patients, though the majority used daily vitamin D and calcium supplements. Vitamin D insufficiency or deficiency was found in 22.6%., Conclusion: The metabolic assessment in children with neuromuscular disorders shows an increased risk of liver enlargement, steatosis and fibrosis. Possible causes are obesity, decreased mobility, low skeletal muscle mass and for a subgroup the use of glucocorticoids. The findings suggest that monitoring liver function should be part of the nutritional assessment in patients with neuromuscular disorders., (© 2022 The Authors. Acta Paediatrica published by John Wiley & Sons Ltd on behalf of Foundation Acta Paediatrica.)

Hepatic involvement in Hodgkin lymphoma (HL) is uncommon (∼5% of patients) but always implies stage IV disease. Accurate staging is mandatory for making the appropriate risk assignment and treatment decisions. The Staging Evaluation and Response Criteria Harmonization for Childhood, Adolescent and Young Adult Hodgkin Lymphoma (SEARCH for CAYAHL) international working group conducted a systematic literature review of liver involvement in HL patients with the aim to propose a universally acceptable definition for liver involvement in pediatric HL. Thirty-three articles describing 6985 pediatric and adult HL patients were reviewed, of which 539 (7.7%) mentioned liver involvement. The literature did not provide a uniform definition of hepatic involvement and we propose consensus criteria derived from the EuroNet and Children's Oncology Group protocols, where liver involvement is defined as any hepatic lesion on computed tomography scan that correlates with 18 F-FDG uptake greater than background liver. A clear definition of liver lesions is necessary to consistently identify liver involvement and compare its impact on outcomes among protocols worldwide., (© 2020 Wiley Periodicals, Inc.)

Common variable immunodeficiency (CVID) is a primary B-cell immunodeficiency disorder, characterized by remarkable hypogammaglobulinemia. The disease can develop at any age without gender predominance. The prevalence of CVID varies widely worldwide. The underlying causes of CVID remain largely unknown; primary B-cell dysfunctions, defects in T cells and antigen-presenting cells are involved. Although some monogenetic defects have been identified in some CVID patients, it is likely that CVID is polygenic. Patients with CVID develop recurrent and chronic infections (e.g., bacterial infections of the respiratory or gastrointestinal tract), autoimmune diseases, lymphoproliferation, malignancies, and granulomatous lesions. Interestingly, autoimmunity can be the only clinical manifestation of CVID at the time of diagnosis and may even develop prior to hypogammaglobulinemia. The diagnosis of CVID is largely based on the criteria established by European Society for Immunodeficiencies and Pan-American Group for Immunodeficiency (ESID/PAGID) and with some recent modifications. The disease can affect multiple organs, including the liver. Clinical features of CVID patients with liver involvement include abnormal liver biochemistries, primarily elevation of alkaline phosphatase (ALP), nodular regenerative hyperplasia (NRH), or liver cirrhosis and its complications. Replacement therapy with immunoglobulin (Ig) and anti-infection therapy are the primary treatment regimen for CVID patients. No specific therapy for liver involvement of CVID is currently available, and liver transplantation is an option only in select cases. The prognosis of CVID varies widely. Further understanding in the etiology and pathophysiology will facilitate early diagnosis and treatments to improve prognosis.

Purpose: This study aimed to assess liver involvement and investigate its correlation with rapidly progressive interstitial lung disease (RP-ILD) and mortality in anti-melanoma differentiation-associated gene 5 antibody-positive (anti-MDA5 positive) DM patients. Patients and Methods: This retrospective study included 159 patients diagnosed with anti-MDA5 positive DM or anti-synthetase syndrome (ASyS). Clinical features and laboratory findings were compared between patients with anti-MDA5 positive DM and patients with ASyS. In the anti-MDA5 positive DM cohort, clinical features and laboratory findings between patients with liver involvement and without liver involvement were further compared. The effects of liver involvement on the overall survival (OS) and development of RP-ILD were also analyzed using Kaplan–Meier method and Cox regression analysis. Results: Levels of serum aspartate aminotransferase (AST), alanine transaminase (ALT), γ-glutamyl transferase (γGT) and alkaline phosphatase (ALP) were all significantly higher in patients with anti-MDA5 positive DM than those in patients with ASyS. In our cohort of anti-MDA5 positive DM patents, 31 patients (34.4%) were complicated with liver involvement. Survival analysis revealed that serum ferritin > 1030.0 ng/mL (p< 0.001), ALT > 103.0 U/l (p< 0.001), AST > 49.0 U/l (p< 0.001), γGT > 82.0 U/l (p< 0.001), ALP > 133.0 U/l (p< 0.001), lactate dehydrogenase (LDH)> 474.0 U/l (p< 0.001), plasma albumin (ALB) < 35.7 g/l (p< 0.001) and direct bilirubin (DBIL) > 2.80 μmol/l (p=0.002) predicted poor prognosis. The incidence of RP-ILD increased remarkably in patients with liver involvement compared to patients without liver involvement (58.1% vs 22.0%, p=0.001). Multivariate analysis revealed that elevated serum ALT level was an independent risk factor for mortality (HR 6.0, 95% CI 2.3, 16.2, p< 0.001) and RP-ILD (HR 5.9, 95% CI 2.2, 15.9, p< 0.001) in anti-MDA5 positive DM patents. Conclusion: Liver involvement is common in patients with anti-MDA5 positive DM. Elevated serum ALT level was an independent risk factor for RP-ILD and mortality in patients with anti-MDA5 positive DM. [ABSTRACT FROM AUTHOR]

Background: IgD multiple myeloma (MM) is a rare subtype of MM and light chain deposition disease (LCDD) outside the kidney is also a rare and has scarcely been reported. We report herein the details of the first reported case of LCDD involving the kidney and liver co-occurring with IgD myeloma.Case Presentation: A 66-year-old female with IgD MM presented with rapidly progressive acute renal failure, ascites and pleural effusion. Immunofluorescent study of revealed the characteristic linear deposition of Igκ light chain along the glomerular and tubular basement membrane in kidney. Electron microscopy showed the powdery electron-dense deposits along the tubular and glomerular basement membrane consistent with the diagnosis of LCDD. Laser microdissection followed by mass spectrometry identified only Igκ light chain with more than 95% probability confirm the diagnosis of κ-LCDD but not heavy/light chain deposition disease. Liver biopsy with immunofluorescence study revealed the linear deposition of Igκ chain along the perisinusoidal space indicating the hepatic involvement of κ-LCDD. The patient was successfully treated with combination therapy with bortezomib, cyclophosphamide, dexamethasone, and daratumumab.Conclusions: This report emphasizes that prompt biopsy of affected organs and initiation of clone directed therapy led to the correct diagnosis and favorable outcome in patient with LCDD who has extrarenal involvement. [ABSTRACT FROM AUTHOR]

Background: Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare autosomal dominant genetic vascular dysplasia. Objectives: The aim is to characterize the liver involvement of HHT by multi-detector helical computed tomography. Patients and Methods: Through the use of multi-detector helical computed tomography, scan data derived from 12 cases of HHT were retrospectively studied, and an abdominal scan was performed on all of the patients. Results: (i) Three types of shunting were found in the livers, including arteriovenous (hepatic artery to hepatic vein) in 6 cases, arterioportal (hepatic artery to portal vein) in 2 cases, and portal venous (portal vein to hepatic vein) in 4 cases, (ii) Biliary diseases were detected in 8 cases, including 3 cases of bilomas accompanied by increases of alkaline phosphatase (mean 271 units, ranging from 152 to 479 units) and arteriovenous shunts, and the other 5 cases revealed slight biliary dilation with no increase of alkaline phosphates, but were instead accompanied by arteriovenous shunts (3 cases) and portal venous shunts (2 cases). (iii) Vascular anatomic variants were observed in 4 cases, including 3 with accompanying arteriovenous shunts and 1 with accompanying arterioportal shunting. Conclusion: The involved liver with HHT typically shows vascular shunting and biliary diseases. Also, arteriovenous shunts may be vulnerable to biliary diseases. [ABSTRACT FROM AUTHOR]

Objective. To study the prevalence and predisposing factors of liver involvement in sickle cell disease (SCD) of patients with acute vaso-occlusive crisis. Material and methods. We prospectively evaluated 41 consecutive patients (44% M, median age 39 years, range 16-56 years) with homozygous (HbSS; 12 cases) or sickle cell-beta thalassemia (HbSβ-thal; 29 cases), admitted to our Medical Department in the period 2002 to 2004. Severity of crisis was graded by in-house-modified APACHE score; presence of asplenia or functional hyposplenism was also considered. Hematological and biochemical parameters including various relevant enzymes/isoenzymes were followed daily. Results. Despite the fact that only 9 patients (22%) presented with acute painful hepatomegaly, liver involvement was evident in 16 (39%); hepatocellular-type injury was found in 1 patient, cholestatic in 8, and mixed in 7. Severity of crisis was not related to liver involvement (score 20.6 versus 18.2), but liver involvement occurred in the presence of normal spleen function (p<0.001) and platelet counts <500,000/mm3 (p<0.001) were. Patients with liver involvement, compared with those without, had higher total and direct bilirubin levels (4.3 versus 2.9 mg/dL, p=0.050; 1.9 versus 0.8 mg/dL, p=0.010, respectively), lower hematocrit (19% versus 23%, p=0.030) and longer hospitalization (10 versus 6.3 days, p<0.001). Conclusions. In SCD, there is a 39% prevalence of acute veno-occlusive involvement of the liver, a figure that is much higher than previously reported. The type of injury is mostly mixed hepatocellular-cholestatic or purely cholestatic and its course is usually benign. Liver involvement occurs more often in patients with normal spleen function and is not associated with the overall severity of the acute episode, both observations being unreported previously. [ABSTRACT FROM AUTHOR]

Background: Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by ichthyosiform non-bullous erythroderma and variable involvement of the liver and the neuromuscular system. In CDS patients, the accumulation of neutral lipids inside cytoplasmic lipid droplets has been demonstrated in different tissues. To date, ninety families with this disease have been described worldwide; most of them are from Mediterranean countries. Case presentation: In this report, we describe a consanguineous Turkish family with typical features of CDS. The parents are first cousins and are both diseased. At the age of eight, their child presented CDS with non-bullous congenital ichthyosiform erythroderma, hepatosteatosis, hepatomegaly and ectropion. Electromyographic examination is compatible with myopathy. A five-year-old cousin of the child is also affected by CDS. She was born to non-affected consanguineous parents. Mutation analysis of the ABHD5 gene revealed the previously reported mutation, N209X, which is the most frequent in Turkish patients. Lipid vacuoles, also known as Jordan's anomaly, are detectable in their leucocytes. Conclusions: To the best of our knowledge, this is the first report of a CDS family in which both parents and their child are affected by CDS. To date, the child does not present a more severe clinical phenotype compared with those of his relatives or other CDS patients of the same age. These findings suggest that high levels of triacylglycerol accumulation, that may be supposed to be present in high amount inside the ooplasm, did not affect embryo development and foetal growth. [ABSTRACT FROM AUTHOR]