A rare cause of painful hepatomegaly
A 50-year-old female was admitted to our inpatient service due to abdominal pain, nausea, and progressive fatigue. The symptoms started a few weeks before hospitalization when she was treated with oral antibiotics for a dental infection. Vitals were normal. Physical examination showed an enlarged liver and bilateral leg edema. Medical history included smoldering myeloma (diagnosed a few weeks before admission), autoimmune thyroiditis (since 2018), and Sjogren ’s syndrome (since 2020). Labs demonstrated leukocytosis (15x109/L, with an upper limit of normal [ULN] of 11x109/L), normocytic anemia (hemoglobin 11 g/dl), normal...
Source: Journal of Hepatology - November 25, 2023 Category: Gastroenterology Authors: Alberto Zanetto, Marco Senzolo, Filippo Pelizzaro, Claudia Mescoli, Stefania Rizzo Tags: What Is Your Diagnosis? Source Type: research

Epidemiological characteristics of human cystic echinococcosis in Khuzestan province (Iran), 2011 –2021: a retrospective analytical study
This study investigated the epidemiological dimensions of HC in patients admitted to hospitals in Khuzestan province from 2011 to 2021. Of all 183 patients identified, 113 (61.7%) were female with the mean age of 37.7  ± 17, men with the mean age of 36.7 ± 19. Also, we found that housewives made up 49.2% of our HC patients. 65% of the patients in this study lived in urban areas, and 42% had a history of contact with dogs. The liver was reported to be the most HC-affected organ. The most clinical symptom s were abdominal pain and hepatomegaly. 59% of the patients had only one cyst. This study found that surgery an...
Source: Journal of Parasitic Diseases - November 24, 2023 Category: Parasitology Source Type: research

The impact of vaccine-linked chemotherapy on liver health in a mouse model of chronic < i > Trypanosoma cruzi < /i > infection
ConclusionsThese data confirm toxicity associated with curative doses of BNZ and suggest that while dose sparing low BNZ plus vaccine treatment does not reduce parasite burdens, it better preserves liver health. (Source: PLoS Neglected Tropical Diseases)
Source: PLoS Neglected Tropical Diseases - November 21, 2023 Category: Tropical Medicine Authors: Duc Minh Nguyen Source Type: research

Detection of HbD Punjab Trait in Saurashtra Region of Gujarat by HPLC Method
AbstractThe HbD Punjab trait is a less common hemoglobin variant in the Saurashtra region of Gujarat. This patient presented to the General Medicine and Biochemistry Department at All India Institute of Medical Sciences, Rajkot, Hospital, for the HbA1c analysis by high-performance liquid chromatography (HPLC). The patient was 52  years old, a known case of type 2 diabetes mellitus and hypertension, and presented with complaints of generalized malaise and fatigability for the previous ten to twelve months. On physical examination, there was no evidence of pallor, lymphadenopathy, splenomegaly, or hepatomegaly. Peripheral b...
Source: Indian Journal of Clinical Biochemistry - November 10, 2023 Category: Biochemistry Source Type: research

Kawasaki disease or polyarteritis nodosa: coronary involvement, a diagnostic conundrum
AbstractPolyarteritis nodosa (PAN) is a medium-vessel vasculitis presenting with cutaneous and multisystem involvement with considerable morbidity. The necrotizing vasculitis in PAN typically involves renal, celiac, and mesenteric vascular beds. Coronary artery involvement is a characteristic feature of Kawasaki disease, another medium-vessel vasculitis; however, it has been rarely reported with PAN. Here, we present 2 cases with PAN involving coronaries mimicking Kawasaki disease. A 3.5-year-old boy with classical features of Kawasaki disease with giant coronary aneurysm refractory to IVIg, methylprednisolone, infliximab ...
Source: Rheumatology International - November 9, 2023 Category: Rheumatology Source Type: research

Successful Treatment of Recurrent Adult-Onset Still's Disease with Tocilizumab: A Case Report and Literature Review
In this report, we present a case of successful treatment of recurrent AOSD with tocilizumab (TCZ), along with a concise review of innovative treatment strategies for AOSD based on literature retrieval.PMID:37937315 | PMC:PMC10627065 | DOI:10.2147/CCID.S431605 (Source: Clinical, Cosmetic and Investigational Dermatology)
Source: Clinical, Cosmetic and Investigational Dermatology - November 8, 2023 Category: Dermatology Authors: Xiaojing Zhong Tongtong Xu Tianhao Li Nana Luo Nan Luo Pingsheng Hao Source Type: research

Hemophagocytic lymphohistiocytosis: A retrospective analysis of 66 patients
In this study, we analyzed the data of 66 patients: the objective was to describe the epidemiological, clinical, biological and therapeutic characteristics and to compare our results with those already published.METHODS: We conducted a retrospective study at the University Hospital of Montpellier from 2015 to 2021. Patients were included when the diagnosis of HLH was mentioned on the hospitalization report and when the HSCORE was higher than 50% (169). Prognostic analyses were performed by comparing the patients who died from HMH to those who didn't.RESULTS: The mean age the 66 patients included was 49.2 years, 62% were me...
Source: Revue de Medecine Interne - November 6, 2023 Category: Internal Medicine Authors: L Thiebaut G Pasquier S Theret J Russello Source Type: research

Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia
Timely diagnosis of persistent neonatal hypoglycemia is critical to prevent neurological sequelae, but diagnosis is complicated by the heterogenicity of the causes. We discuss two cases at separate institutions in which clinical management was fundamentally altered by the results of molecular genetic testing. In both patients, critical samples demonstrated hypoketotic hypoglycemia and a partial glycemic response to glucagon stimulation, thereby suggesting hyperinsulinism (HI). However, due to rapid genetic testing, both patients were found to have deoxyguanosine kinase (DGUOK)-related mitochondrial DNA depletion syndrome, ...
Source: Frontiers in Endocrinology - November 1, 2023 Category: Endocrinology Source Type: research

Clinical characteristics, treatment, and management of pembrolizumab induced hemophagocytic lymphohistiocytosis
ConclusionHLH should be suspected when unexplained fever, cytopenia, splenomegaly, and elevated aminotransferase occur in patients using pembrolizumab. Screening for risk factors before treatment with pembrolizumab may be necessary to prevent HLH. (Source: Investigational New Drugs)
Source: Investigational New Drugs - October 28, 2023 Category: Drugs & Pharmacology Source Type: research

Two novel cases of biallelic SMPD4 variants with brain structural abnormalities
In this study, three novel loss-of-functionSMPD4 variants were identified using exome sequencing (ES) in two independent patients with developmental delays, microcephaly, seizures, and brain structural abnormalities. Patient 1 had a homozygous c.740_741del, p.(Val247Glufs*21) variant and showed profound intellectual disability, hepatomegaly, a simplified gyral pattern, and a thin corpus callosum without congenital dysmorphic features. Patient 2 had a compound heterozygous nonsense c.2124_2125del, p.(Phe709*) variant and splice site c.1188+2dup variant. RNA analysis revealed that the c.1188+2dup variant caused exon 13 skipp...
Source: Neurogenetics - October 26, 2023 Category: Genetics & Stem Cells Source Type: research