Infantile Galactosialidosis with Novel Mutation: An Early Presentation

2021 ◽  
Author(s):  
Sonia Sharma ◽  
Shailesh Gupta ◽  
A. P. Mehta ◽  
Poonam Sidana
Keyword(s):  
Lysosomal Storage Disorder ◽  
Clinical Laboratory ◽  
Novel Mutation ◽  
Lysosomal Storage ◽  
Diagnostic Challenge ◽  
Laboratory Findings ◽  
Early Presentation ◽  
Difficulty Breathing ◽  
Nephrotic Range Proteinuria ◽  
Coarse Facies

AbstractGalactosialidosis (GS) is a rare lysosomal storage disorder. We reported here, the case of a 29-day-old boy who had increased body swelling, difficulty breathing, and petechiae on the trunk since birth. The antenatal history was unremarkable. Clinical laboratory findings included coarse facies, hepatosplenomegaly, gross ascites, thrombocytopenia, nephrotic range proteinuria, and bilateral hydronephrosis. The diagnostic challenge was resolved after genetic testing, which revealed GS with a novel homozygous c.1158dupA mutation.

New Insight for the Prognosis of CCHF: Clinical, Laboratory and Sonography Findings

2020 ◽  
Vol 16 (9) ◽  
pp. 1125-1130
Author(s):  
Hamid Owaysee Osquee ◽  
Sepehr Taghizadeh ◽  
Mehdi Haghdoost ◽  
Hadi Pourjafar ◽  
Fereshteh Ansari
Keyword(s):  
Odds Ratio ◽  
Clinical Laboratory ◽  
Fatal Outcome ◽  
Hemorrhagic Fever ◽  
Demographic Characteristics ◽  
Pelvic Cavity ◽  
Fatal Disease ◽  
Laboratory Findings ◽  
Report Data ◽  
Sistan And Baluchestan

Introduction: In this article, we report data on confirmed CCHF cases from Iran and describe the association between studying factors and outcomes of the disease. Objective: Crimean Congo Hemorrhagic Fever (CCHF) is an acute and fatal disease with various clinical and paraclinical characteristics. Methods: In the Study design, we evaluated demographic characteristics, clinical, laboratory and sonographic findings of 160 CCHF confirmed cases during 2003 and 2012 in Zabol (A city in Sistan and Baluchestan province of Iran). The association between these factors and the fatal outcome was evaluated by regression analysis. Results: The disease had a fatal outcome in 7 (4.4%) of patients. Females had more severe symptoms and higher odds for death (odds ratio11.57, p=0.005). Leukocytosis (p<0.001), PT (p<0.001) and PTT (p=0.008) elongation, AST (p=0.010) and ALT (p<0.001) elevation were significantly associated with fatal outcome. CNS related symptoms (odds ratio 5.9, p=0.027) in clinical examination and ascites (odds ratio 38.4, p=0.012) and liquid in the pelvic cavity (odds ratio 24.2, p=0.004) were also identified as risk factors of death in this study. Conclusions: Our data suggest that in addition to clinical and laboratory findings practitioners consider sonography for CCHF prognosis.

scholarly journals Identification of a novel homozygous loss-of-function mutation in FUCA1 gene causing severe fucosidosis: A case report

2021 ◽  
Vol 49 (4) ◽  
pp. 030006052110059
Author(s):  
Xinwen Zhang ◽  
Shaozhi Zhao ◽  
Hongwei Liu ◽  
Xiaoyan Wang ◽  
Xiaolei Wang ◽  
...  
Keyword(s):  
Amino Acids ◽  
Lysosomal Storage Disorder ◽  
Autosomal Recessive ◽  
Signs And Symptoms ◽  
Lysosomal Storage ◽  
Loss Of Function ◽  
Wild Type ◽  
Single Nucleotide ◽  
Whole Exome ◽  
Exon 1

Fucosidosis is a rare lysosomal storage disorder characterized by deficiency of α-L-fucosidase with an autosomal recessive mode of inheritance. Here, we describe a 4-year-old Chinese boy with signs and symptoms of fucosidosis but his parents were phenotypically normal. Whole exome sequencing (WES) identified a novel homozygous single nucleotide deletion (c.82delG) in the exon 1 of the FUCA1 gene. This mutation will lead to a frameshift which will result in the formation of a truncated FUCA1 protein (p.Val28Cysfs*105) of 132 amino acids approximately one-third the size of the wild type FUCA1 protein (466 amino acids). Both parents were carrying the mutation in a heterozygous state. This study expands the mutational spectrum of the FUCA1 gene associated with fucosidosis and emphasises the benefits of WES for accurate and timely clinical diagnosis of this rare disease.

scholarly journals Relative Frequency and Risk Factors of COVID-19 Related Headache in a Sample of Egyptian Population: A Hospital-Based Study

Pain Medicine ◽  
2021 ◽  
Author(s):  
Mona Hussein ◽  
Wael Fathy ◽  
Ragaey A Eid ◽  
Hoda M Abdel-Hamid ◽  
Ahmed Yehia ◽  
...  
Keyword(s):  
Multivariate Analysis ◽  
Platelet Count ◽  
Relative Frequency ◽  
Clinical Laboratory ◽  
Primary Headache ◽  
Female Gender ◽  
Imaging Data ◽  
Laboratory Findings ◽  
Neutrophil Lymphocyte Ratio ◽  
The Impact

Abstract Objectives Headache is considered one of the most frequent neurological manifestations of coronavirus disease 2019 (COVID-19). This work aimed to identify the relative frequency of COVID-19-related headache and to clarify the impact of clinical, laboratory findings of COVID-19 infection on headache occurrence and its response to analgesics. Design Cross-sectional study. Setting Recovered COVID-19 patients. Subjects In total, 782 patients with a confirmed diagnosis of COVID-19 infection. Methods Clinical, laboratory, and imaging data were obtained from the hospital medical records. Regarding patients who developed COVID-19 related headache, a trained neurologist performed an analysis of headache and its response to analgesics. Results The relative frequency of COVID-19 related headache among our sample was 55.1% with 95% confidence interval (CI) (.516–.586) for the estimated population prevalence. Female gender, malignancy, primary headache, fever, dehydration, lower levels of hemoglobin and platelets and higher levels of neutrophil/lymphocyte ratio (NLR) and CRP were significantly associated with COVID-19 related headache. Multivariate analysis revealed that female gender, fever, dehydration, primary headache, high NLR, and decreased platelet count were independent predictors of headache occurrence. By evaluating headache response to analgesics, old age, diabetes, hypertension, primary headache, severe COVID-19, steroid intake, higher CRP and ferritin and lower hemoglobin levels were associated with poor response to analgesics. Multivariate analysis revealed that primary headache, steroids intake, moderate and severe COVID-19 were independent predictors of non-response to analgesics. Discussion Headache occurs in 55.1% of patients with COVID-19. Female gender, fever, dehydration, primary headache, high NLR, and decreased platelet count are considered independent predictors of COVID-19 related headache.

scholarly journals Clinical Characteristics, Treatments and Outcomes of 18 Lung Transplant Recipients with COVID-19

2021 ◽  
Vol 2 (2) ◽  
pp. 229-245
Author(s):  
René Hage ◽  
Carolin Steinack ◽  
Fiorenza Gautschi ◽  
Susan Pfister ◽  
Ilhan Inci ◽  
...  
Keyword(s):  
Lung Transplant ◽  
Clinical Laboratory ◽  
Invasive Mechanical Ventilation ◽  
Case Series ◽  
Outcome Data ◽  
Transplant Recipients ◽  
Retrospective Case ◽  
Laboratory Findings ◽  
Case Series Study ◽  
Lung Transplant Recipients

We report clinical features, treatments and outcomes in 18 lung transplant recipients with laboratory confirmed SARS-CoV-2 infection. We performed a single center, retrospective case series study of lung transplant recipients, who tested positive for SARS-CoV-2 between 1 February 2020 and 1 March 2021. Clinical, laboratory and radiology findingswere obtained. Treatment regimens and patient outcome data were obtained by reviewing the electronic medical record. Mean age was 49.9 (22–68) years, and twelve (67%) patients were male. The most common symptoms were fever (n = 9, 50%), nausea/vomiting (n = 7, 39%), cough (n = 6, 33%), dyspnea (n = 6, 33%) and fatigue (n = 6, 33%). Headache was reported by five patients (28%). The most notable laboratory findings were elevated levels of C-reactive protein (CRP) and lactate dehydrogenase (LDH). Computed Tomography (CT) of the chest was performed in all hospitalized patients (n = 11, 7%), and showed ground-glass opacities (GGO) in 11 patients (100%), of whom nine (82%) had GGO combined with pulmonary consolidations. Six (33%) patients received remdesivir, five (28%) intravenous dexamethasone either alone or in combination with remdesivir, and 15 (83%) were treated with broad spectrum antibiotics including co-amoxicillin, tazobactam-piperacillin and meropenem. Four (22%) patients were transferred to the intensive care unit, two patients (11%) required invasive mechanical ventilation who could not be successfully extubated and died. Eighty-nine percent of our patients survived COVID-19 and were cured. Two patients with severe COVID-19 did not survive.

A lysosomal storage disorder in mice: A model of Niemann-Pick disease

1982 ◽  
Vol 5 (4) ◽  
pp. 239-240 ◽  
Author(s):  
T. Sakiyama ◽  
M. Tsuda ◽  
T. Kitagawa ◽  
R. Fujita ◽  
S. Miyawaki
Keyword(s):  
Lysosomal Storage Disorder ◽  
Lysosomal Storage ◽  
Niemann Pick Disease ◽  
Storage Disorder ◽  
Niemann Pick ◽  
Pick Disease

Mesangial lupus nephritis with associated nephrotic syndrome.

1997 ◽  
Vol 8 (7) ◽  
pp. 1199-1204
Author(s):  
N Stankeviciute ◽  
W Jao ◽  
A Bakir ◽  
J P Lash
Keyword(s):  
Nephrotic Syndrome ◽  
Lupus Nephritis ◽  
Lupus Erythematosus ◽  
World Health ◽  
Clinical Tool ◽  
Laboratory Findings ◽  
Glomerular Lesion ◽  
Health Organization ◽  
Lupus Glomerulonephritis ◽  
Nephrotic Range Proteinuria

Patients with mesangial proliferative lupus glomerulonephritis (World Health Organization class II) are generally believed to have only mild to moderate proteinuria and normal renal function. However, there have been several reports of patients with mesangial lupus with nephrotic-range proteinuria. In this report, we present two additional cases and review the literature. Of seven reported cases, persistent nephrotic syndrome was observed in four, morphologic transformation occurred in three, and all but one presented with varying degrees of azotemia. These cases reinforce the concept that in systemic lupus erythematosus, laboratory findings may not correlate well with the underlying glomerular lesion, and therefore, the renal biopsy is an essential clinical tool in the approach to lupus nephritis.

scholarly journals Retrospective analysis of pleural effusion in cats

2018 ◽  
Vol 21 (12) ◽  
pp. 1102-1110 ◽  
Author(s):  
Alla König ◽  
Katrin Hartmann ◽  
Ralf S Mueller ◽  
Gerhard Wess ◽  
Bianka S Schulz
Keyword(s):  
Pleural Effusion ◽  
Clinical Laboratory ◽  
Serum Alkaline Phosphatase ◽  
Small Animal ◽  
Underlying Disease ◽  
Serum Alkaline Phosphatase Activity ◽  
Laboratory Findings ◽  
Glucose Levels ◽  
Cell Counts ◽  
Lower Protein

Objectives Pleural effusion is a common presenting cause for feline patients in small animal practice. The objectives of this study were to identify possible correlations between the aetiology of effusion and clinical and laboratory findings. Methods In this retrospective study of 306 cats diagnosed with pleural effusion of established aetiology, cats were divided into six major groups: cardiac disease (CD), feline infectious peritonitis (FIP), neoplasia, pyothorax, chylothorax and miscellaneous. Clinical, laboratory and radiographic parameters were compared between groups. Results CD was the most common aetiology (35.3%), followed by neoplasia (30.7%), pyothorax (8.8%), FIP (8.5%), chylothorax (4.6%) and miscellaneous diseases (3.7%). In 26 (8.5%) cats, more than one underlying disease was diagnosed as a possible aetiology for pleural effusion. Cats with FIP were significantly younger than those with CD ( P <0.001) and neoplasia ( P <0.001). Cats with CD were presented with a significantly lower body temperature compared with cats with FIP ( P = 0.022). Cats with CD had significantly higher serum alanine aminotransferase activity compared with all other cats (FIP and pyothorax, P <0.001; neoplasia and chylothorax, P = 0.02) and serum alkaline phosphatase activity compared with the pyothorax ( P <0.001) and FIP groups ( P = 0.04), and significantly lower protein concentrations (FIP, pyothorax and neoplasia, P <0.001; chylothorax, P = 0.04) and nucleated cell counts in the effusion than all other groups (pyothorax and neoplasia, P <0.001; chylothorax, P = 0.02; FIP, P = 0.04). The glucose level in the effusion of cats with pyothorax was significantly lower than glucose levels in patients with CD, neoplasia and chylothorax ( P <0.001). Of 249 cats with a follow-up of at least 10 days, 55.8% died or were euthanased during that time. Conclusions and relevance CD and neoplasia were the most common causes for feline pleural effusion. Age, liver enzymes, as well as cell count, protein and glucose levels in the effusion can aid in the investigation of underlying aetiologies.

scholarly journals Immunotherapy in the treatment of chronic cystitis

2018 ◽  
Vol 4 (4) ◽  
pp. 65-77
Author(s):  
Yana Kulintsova ◽  
Andrey Zemskov ◽  
Tatyana Berezhnova
Keyword(s):  
Conventional Therapy ◽  
Clinical Laboratory ◽  
Metabolic Stress ◽  
Risk Groups ◽  
Average Weight ◽  
Chronic Cystitis ◽  
Laboratory Findings ◽  
Flow Cytofluorometry ◽  
Immune Therapies ◽  
Immune Globulins

Introduction: The article deals with to the new approaches to the immunotherapy of chronic cystitis. Cystitis appears to be a disease linked to the decreased immunity of the population. Materials and Methods: The study included 200 patients with chronic cystitis, and was performed in three stages. At the first stage, all 200 patients were questioned to determine whether they do or do not have the basic immunopathological syndromes. At the second stage, the patients of 6 clinical groups underwent a routine immunologic examination using tests to evaluate basic populations, lymphocyte subpopulations, immune globulins, circulating immune complexes, average weight molecules, absorbing and metabolic phagocytic ability, pro- and anti-inflammatory cytokines by using flow cytofluorometry methods. The third stage included distribution of the major group of patients with chronic cystitis in the relapse stage into subgroups of 25 patients each who received conventional therapy. Results and Discussion: The study has the following findings: the formation of risk groups depends on immunopathological syndromes and clinical-laboratory markers of disease peculiarities; signal tests of immunologic disorders and their correlative links with metabolic stress parameters were specified and formalized as diagnostic formulas; high clinical-bacteriological and low hemato-immunological efficacy of the conventional therapy patients with chronic cystitis and the capacity of the local and systemic modulators, such as kipferon, superlimf and imunofan, galavit, and their combinations, to normalize the parameters under study during 7-10 days were demonstrated. When combining the correctors, it was possible to achieve new quality independent of the properties of individual agents included in the composition; the reveal targets of various immune therapies were conditioned by the treatment provided, the characteristics of the correctors, the identification period – 7-10 days – 3-4 months. The analysis of the formulas of modulator targets made it possible to identify laboratory findings for their selection. Conclusion: The data obtained during the study support the fact that there was no clinical efficacy of the conventional therapy for patients; this efficacy was maintained through to the administration of the combination of modulators in the acute period. Substantiated differentiated immunotherapy resulted in implementing the proper algorithm of observations, which prevented recurring of chronic cystitis in 3-4 months.

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