Index of Suspicion in the Nursery * Case 1: Term Infant With an Absolute Neutrophil Count of Zero * Case 2: Coagulopathy, Hepatomegaly, and Ascites in a Term Newborn

Source: NeoReviews recent issues - Category: Pediatrics Authors: Tags: Articles Source Type: news

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Conclusion: Patients are younger, and early MR rates are lower compared to other studies. The finding of hepatomegaly as a risk factor for unfavourable early MR was described previously in West Africa. Adherence to therapy is high in the first months of treatment. Furthermore, research is needed to understand the poor MR and the common presentation of hepatomegaly. Outreach clinics might be a solution to reduce impediments to treatment. PMID: 33014131 [PubMed]
Source: Ecancermedicalscience - Category: Cancer & Oncology Tags: Ecancermedicalscience Source Type: research
Authors: Yoshinaga T, Katoh N, Yazaki M, Sato M, Kametani F, Yasuda H, Watanabe K, Kawata K, Nakagawa M, Sekijima Y Abstract Hereditary systemic amyloidosis aside from transthyretin-related familial amyloid polyneuropathy is quite uncommon in Japan. We herein report a sporadic case of hereditary apolipoprotein AI (apoAI) amyloidosis. The patient was a 43-year-old Japanese man who exhibited marked hepatomegaly with spleno-testicular enlargement. While he was initially thought to have primary AL amyloidosis, a proteomics analysis revealed that the amyloid was composed of variant apoAI with an E34K variant. To date, o...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
We describe a 63-year-old female who was presented with obstructive jaundice and epigastric pain of 10 days. Initial CBC revealed 43x103/ μL white blood cells, 11.2 g/dL hemoglobin, and 88x103/ μL platelets. CT abdomen revealed hepatomegaly and suspected pancreatic mass with large retroperitoneal lymph nodal mass. Peripheral smear showed 56% lymphoid cells with blast morphology. The bone marrow (BM) aspirate smear was infiltrated by 83% immature-looking cells. BM biopsy showed interstitia l to diffuse extensive infiltration by primitive-looking cells, positive for pan-B-cell antigens CD20, CD79, and PAX5 as well as t...
Source: Case Reports in Oncology - Category: Cancer & Oncology Source Type: research
ConclusionThe supramesocolic approach to a Roux-en-Y Gastric Bypass is a safe and effective technique when an inframesocolic approach proves difficult.
Source: Obesity Surgery - Category: Surgery Source Type: research
Discussion Syphilis is caused by the spirochete Treponema pallidum. It is a very old disease that despite understanding the organism and readily available treatment, still causes disease. Syphilis is transmitted sexually. According to the Centers for Disease Control, “[i]n 2018, a total of 35,063 cases of [Primary and Secondary] syphilis were reported in the United States, yielding a rate of 10.8 cases per 100,000 population …. This rate represents a 14.9% increase compared with 2017 (9.4 cases per 100,000 population), and a 71.4% increase compared with 2014 (6.3 cases per 100,000 population).” The incre...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
ConclusionsIn this article, we report a rare presentation of non-Hodgkin lymphoma and review the current literature on clinical features, diagnosis, and management.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research
In conclusion, the present study identified five novel variants of HMGCS2 that were indicated to be pathogenic in four patients affected by HMGCS2 deficiency. PMID: 32952630 [PubMed]
Source: Experimental and Therapeutic Medicine - Category: General Medicine Tags: Exp Ther Med Source Type: research
In this study, the rK39 RDT's false positivity was observed in CML cases. It could have important implications for the differential diagnosis of VL with CML. The rK39 positive test result in CML cases was a serendipitous occurrence; this should be validated further to determine the utility of the rK39 test in the differential diagnosis of VL with CML. PMID: 32975180 [PubMed - as supplied by publisher]
Source: The American Journal of Tropical Medicine and Hygiene - Category: Tropical Medicine Authors: Tags: Am J Trop Med Hyg Source Type: research
The PYGL gene is the only established gene known to cause glycogen storage disease type VI (GSD6), which is a rare autosomal recessive disorder associated with hepatomegaly, elevated hepatic transaminases, and hypoglycemia. We performed extended bioinformatics analysis on the exome sequencing data of five patients who were clinically diagnosed as/highly-suspected of GSD and identified a single heterozygous pathogenic/likely-pathogenic (P/LP) or rare variant of uncertain significance (VUS) single nucleotide variant (SNV) on the PYGL gene.
Source: Journal of Molecular Diagnostics - Category: Pathology Authors: Tags: Regular Article Source Type: research
Abstract Systemic lupus erythematosus (SLE), a multisystem autoimmune inflammatory disease, may involve any organs, including the liver. Liver involvement in SLE is not part of the American College of Rheumatology criteria and is relatively rare. Liver disease is usually mild, manifesting as subtle elevation of liver enzymes. Jaundice and hepatomegaly can be seen in some patients; advanced liver disease with cirrhosis is extremely rare. Precise pathology remains obscure. SLE may cause non-specific changes, including hepatocellular, cholestatic, or vascular changes. Alcohol, drugs, viral infections, metabolic disor...
Source: Scandinavian Journal of Rheumatology - Category: Rheumatology Authors: Tags: Scand J Rheumatol Source Type: research
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