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Ornithine transcarbamylase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Any patient with OTCD and symptomatic attacks of hyperammonemia may develop coma, and this may lead to death. Hepatomegaly is seen in some patients, and there may be abnormalities in liver function tests. In an older child seen for the first time with hyperammonemia, these findings may be thought at first to represent primary disease of the liver. OTCD was, on occasion, initially diagnosed as Reye syndrome [21]. Attacks may be precipitated by a large intake of protein, infection, surgery, or immunization. Impaired mental development may be progressive with further episodes. Some patients may present with acute liver disease leading to failure [28]. Over the years, many patients develop variable hepatic fibrosis and focal changes resembling glycogen storage disorder and cirrhosis [24]. Hepatocellular carcinoma has been described [29]. Disorders of fatty acid oxidation may have an identical Reye-like presentation and meet all of the conditions for a diagnosis of OTCD, except that the enzyme activity of the liver is normal [30].
Diseases of the Hepatobiliary Tree and Pancreas Associated with Fever
Published in Benedict Isaac, Serge Kernbaum, Michael Burke, Unexplained Fever, 2019
This is a rare condition characterized by the presence of multiple small, blood-filled spaces in the liver.190 The etiology is unknown, although the condition may be associated with androgenic steroid administration,191,192 neoplasia,190,193 and other liver disease.194 It is often asymptomatic, being discovered incidentally at autopsy. However, some patients present with one or more episodes of jaundice and fever.194 Hepatomegaly may be found on physical examination. The diagnosis may be made by identifying reddish-purple spots or markings beneath a transparent liver capsule at laparoscopy, permitting liver biopsy to be performed. Histologic examination demonstrates focal accumulations of dilated sinusoids filled with erythrocytes.194
Myeloproliferative Disorders
Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019
Important physical findings in polycythemia vera include splenomegaly without lymphade-nopathy; plethora of the face, hands, feet, ears, and mucous membranes; and engorgement of the retinal and conjunctival veins. Hepatomegaly is detected in 40% of patients at presentation.
Bilateral Central Retinal Vein Occlusion in a Neonate
Published in Ocular Immunology and Inflammation, 2023
Piyush Kohli, Haemoglobin Parida, Renu P. Rajan, Naresh Babu Kannan
However, he was re-admitted with fever 10 days later. Physical examination showed hepatomegaly. Blood investigations showed normal haemoglobin level (13.6 g/dL); elevated leukocyte count (17100/mm3 with 43% neutrophils, 53% lymphocytes and 4% monocytes); reduced platelet count (26000/μL); elevated CRP (1.2 mg/dL); and a normal peripheral blood smear. His blood culture was negative, while his urine culture showed E.coli growth. A neonatal neurosonogram did not show any abnormality. He was diagnosed with neonatal sepsis with thrombocytopenia. He was treated with one unit of 35 mL packed red blood cells, two units of 70 mL platelet concentrate, IV Piperacillin/ Tazobactam 240 mg thrice a day, IV Amikacin 30 mg OD, and IV Fluconazole 1.2 mg OD. He was discharged after 2 weeks as his systemic condition had stabilized. He further underwent ROP screening because he had a turbulent neonatal period due to the development of sepsis and apnea; and received cardiorespiratory support, prolonged oxygen requirement, and blood transfusion (according to the National Neonatal Forum, India guidelines).2
Outcome and complications of pediatric acute promyelocytic leukemia in Bangladesh
Published in Pediatric Hematology and Oncology, 2022
Eshita Reza Khan, Afiqul Islam, Chowdhury Yakub Jamal, Md. Anwarul Karim, ATM Atikur Rahman, Md. Golam Hafiz, Abdul Khaleque
Mean age of the study subjects was 6.8 ± 3.1 (3-13) years. Fever and hemorrhage were observed in 95% of patients. Mucosal hemorrhages were observed in 55% of children. One patient had a fatal intracranial hemorrhage. Hepatomegaly was observed in 70% of patients. Pre-admission transfusions of blood/blood products were required in 70% of the children. In this study, 65% patients (13/20) were in the high risk group. Mean total leukocyte count was 56.8 ± 94 (1.1- 400) x 109/L, mean platelet count was 16.6 ± 12.6 (2.9-45) x 109/L, mean D-Dimer was 4.1 ± 2.6 (0.8-10.9) µg/ml. DIC was present in 18 (90%) patients based on JSTH DIC criteria. Immunophenotyping of bone marrow samples were strongly positive for myeloid markers, such as: cMPO, CD 13 and CD 33, but negative for stem cell markers, such as: CD 34 and HLA DR (Table 1).
Evaluation and comparison of the diagnostic performance of routine blood tests in predicting liver fibrosis in chronic hepatitis B infection
Published in British Journal of Biomedical Science, 2019
W Lu, YP Zhang, HG Zhu, T Zhang, L Zhang, N Gao, DY Chang, J Yin, XY Zhou, MY Li, YT Li, ZZ Li, Q He, Y Geng
We conducted a cross-sectional retrospective study in the Second Affiliated Hospital of Xi’an Jiao Tong University between May 2017 and June 2018. The protocol was approved by the Hospital Ethics Committee. Inclusion criteria were serum hepatitis B surface antigen (HBsAg) positive for at least six months, ALT level < twice the upper limit of normal, body mass index <25 Kg/m2, and time between transient elastography and other clinical assays <7 days. Exclusion criteria were other diseases, hepatitis C virus infection, hepatic decompensation, alcoholic liver disease, autoimmune hepatitis, non-alcoholic fatty liver disease, drug-induced toxicity, hepatic carcinoma, cholestatic liver disease, abnormal liver function, development of hepatic flares, incomplete routine blood testing, hepatomegaly and acute liver failure. By these criteria, we recruited 196 patients (126 females, 70 males).