scholarly journals Encephalopathy Associated with Severe Cytomegalovirus Infection in an Immunocompetent Young Woman

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Syuichi Tetsuka ◽  
Tomohiro Suzuki ◽  
Tomoko Ogawa ◽  
Ritsuo Hashimoto ◽  
Hiroyuki Kato
Keyword(s):  
Young Adults ◽  
Medial Temporal Lobe ◽  
Elevated Serum ◽  
Clinical Manifestations ◽  
Brain Magnetic Resonance Imaging ◽  
Serum Levels ◽  
Cmv Infection ◽  
Steroid Pulse ◽  
Intravenous Acyclovir ◽  
Pp65 Antigenemia

Primary cytomegalovirus (CMV) infection in healthy young adults is usually an asymptomatic or mononucleosis-like syndrome, whereas in immunocompromised patients, CMV can cause significant disease. In this study, we report an unusual case of primary CMV infection wherein the patient, an immunocompetent 21-year-old woman, presented severe encephalopathy, acute hepatitis, retinitis, and reactivation of latent Epstein–Barr virus. She developed confusion, high fever, headache, and tonic-clonic seizures. Brain magnetic resonance imaging showed high-intensity lesions in the medial temporal lobe and basal ganglia. Liver dysfunction was observed, and abdominal computed tomography revealed splenohepatomegaly. After fundus findings, the patient was diagnosed with CMV retinitis. Upon admission, she was treated with intravenous acyclovir and steroid pulse therapy. Considering both her serious clinical condition and elevated serum levels of interleukin-6, we speculated that her condition was similar to cytokine-storm-induced encephalopathy. On day 2 after admission, she showed prompt recovery from these clinical manifestations. Since blood CMV pp65 antigenemia was found to be positive, we administered ganciclovir for 2 weeks. On the basis of her clinical manifestations and the presence of blood CMV DNA and CMV pp65 antigenemia along with IgM kinetics, we finally diagnosed this patient with severe primary CMV infection. She left our hospital without sequelae 20 days after admission. The incidence of severe CMV disease in immunocompetent young adults might be higher than previously recognized. Noninvasive testing for CMV (such as CMV pp65 antigenemia and CMV DNAemia) is widely available and can help early diagnosis. Short-term glucocorticoid therapy might be beneficial in the treatment of encephalopathy in the early stages of primary CMV infection. Considering such a background, clinicians should keep severe primary CMV infection in mind as a differential diagnosis in the clinical setting.

Analysis of genotype-phenotype correlation in Walker-Warburg syndrome with a novel CRPPA mutation in different clinical manifestations

2021 ◽  
pp. 112067212110163
Author(s):  
Nurettin Bayram ◽  
Ayşe Kaçar Bayram ◽  
Hüseyin Per ◽  
Hakan Gümüş ◽  
Cemal Ozsaygili ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Congenital Muscular Dystrophy ◽  
Clinical Manifestations ◽  
Brain Magnetic Resonance Imaging ◽  
Autosomal Recessive Disorder ◽  
Serum Levels ◽  
High Serum ◽  
Congenital Glaucoma ◽  
Cerebellar Dysplasia ◽  
Ocular Manifestations

Purpose: Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy and severe brain and eye malformations. This study aims to analyze genotype-phenotype correlations in WWS with a novel cytidine diphosphate-l-ribitol pyrophosphorylase A ( CRPPA) mutation in different clinical manifestations. Case description: We report a girl with a presentation of multiple brain and ocular anomalies. Her ophthalmological evaluation showed a shallow anterior chamber, cortical cataract, iris hypoplasia, persistent hyperplastic primary vitreous in the right eye, punctate cataract, iris hypoplasia, primary congenital glaucoma, and a widespread loss of fundus pigmentation in the left eye. She was hypotonic, and her deep tendon reflexes were absent. Laboratory investigations showed high serum levels of serum creatine kinase. Brain magnetic resonance imaging demonstrated hydrocephalus, agenesis of the corpus callosum, retrocerebellar cyst, cerebellar dysplasia and hypoplasia, cobblestone lissencephaly, and hypoplastic brainstem. Whole exome sequencing revealed a novel homozygous nonsense mutation in the first exon of the CRPPA gene (NM_001101426.4, c.217G>T, p.Glu73Ter). Conclusions: The study findings expand the phenotypic variability of the ocular manifestations in the CRPPA gene-related WWS. Iris hypoplasia can be a part of clinical manifestations of the CRPPA gene-related WWS. The uncovering of the genes associated with ocular features can provide preventative methods, early diagnosis, and improved therapeutic strategies.

Elevated Serum Levels of Soluble CD163 in Polymyositis and Dermatomyositis: Associated with Macrophage Infiltration in Muscle Tissue

2015 ◽  
Vol 42 (6) ◽  
pp. 979-987 ◽  
Author(s):  
Qing-Lin Peng ◽  
Yin-Li Zhang ◽  
Xiao-Ming Shu ◽  
Han-Bo Yang ◽  
Lu Zhang ◽  
...  
Keyword(s):  
Muscle Tissue ◽  
Laboratory Data ◽  
Elevated Serum ◽  
Clinical Manifestations ◽  
Serum Levels ◽  
High Serum ◽  
Macrophage Infiltration ◽  
Healthy Controls ◽  
Soluble Cd163 ◽  
Cell Counts

Objective.To investigate serum levels of soluble CD163 (sCD163) in patients with polymyositis (PM) and dermatomyositis (DM), and to correlate these to clinical manifestations and laboratory data.Methods.Serum levels of sCD163 were detected in 24 patients with PM, 84 patients with DM, and 46 healthy controls by using the ELISA method. Immunohistochemistry staining of macrophage infiltration in muscle tissue using anti-CD163 monoclonal antibody was conducted on muscle biopsy specimens from 13 patients with PM and 17 with DM.Results.Serum levels of sCD163 were significantly increased in patients compared with healthy controls (p < 0.001). Patients with interstitial lung disease (ILD) had statistically higher sCD163 levels than patients without ILD (p < 0.001). High serum sCD163 levels were associated with increased incidence of antinuclear antibody (p < 0.05), higher serum levels of immunoglobulin G (p < 0.01) and immunoglobulin A (p < 0.05), and increased erythrocyte sedimentation rates (p < 0.01). Serum sCD163 levels were inversely correlated with CD3+ T cell counts in peripheral blood of patients (r = −0.306, p < 0.01). Cross-sectional assessment and longitudinal study revealed a significant correlation between serum sCD163 levels and disease activity. Patients with high serum sCD163 levels showed a higher incidence of CD163+ macrophage infiltration in muscle tissue than patients with normal sCD163 levels (chi-square value = 10.804, p < 0.01).Conclusion.Serum levels of sCD163 were significantly elevated and correlated with disease severity in patients with PM/DM, suggesting serum sCD163 as a promising biomarker in the disease evaluation of PM/DM. Our finding of elevated serum sCD163 levels associated with muscle macrophage infiltration highlights the role activated macrophage plays in the pathogenesis of PM/DM.

scholarly journals A Case of Atopic Myelitis with Cervical Cavernous Angioma

2017 ◽  
Vol 2017 ◽  
pp. 1-5
Author(s):  
Miyuki Fukuda ◽  
Hiroaki Manabe ◽  
Nobuhiro Sasaki ◽  
Masayuki Kuroda ◽  
Minoru Hoshimaru ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Immunoglobulin E ◽  
Cervical Spinal Cord ◽  
Elevated Serum ◽  
Cavernous Angioma ◽  
Serum Levels ◽  
Pulse Therapy ◽  
Vascular Lesions ◽  
Steroid Pulse ◽  
First Case

Atopic myelitis, a type of myelitis which appears in patients with elevated serum levels of immunoglobulin E (IgE), occurs more commonly in the cervical spinal cord, but this mechanism has not yet been elucidated. Herein, we experienced a case of atopic myelitis developed during the growth of cervical cavernous angioma caused by bleeding. A 37-year-old woman suffered from hand swelling caused by a house cat licking. At the same time when cavernous angioma had grown, she experienced a numbness in her four extremities, and multifocal peritumoral hyperintense spinal cord signals were seen. The diagnosis of atopic myelitis was made because we observed significantly elevated levels of specific IgE antibody to cat dander. Symptoms disappeared immediately after steroid pulse therapy. We subsequently resected a cavernous angioma, and eosinophil invasion was found inside it. This is the first case report of atopic myelitis which developed in association with spinal cord vascular lesions. A local blood-brain barrier breakdown due to hemorrhagic lesions of the spinal cord may have contributed to the onset of atopic myelitis.

scholarly journals Porphyria cutanea tarda in a patient on chronic ambulatory peritoneal dialysis.

1996 ◽  
Vol 7 (3) ◽  
pp. 397-402
Author(s):  
J C Ruggian ◽  
S Fishbane ◽  
F J Demento ◽  
J K Maesaka ◽  
G L Frei
Keyword(s):  
Peritoneal Dialysis ◽  
Porphyria Cutanea Tarda ◽  
Esrd Patient ◽  
Elevated Serum ◽  
Clinical Manifestations ◽  
Serum Levels ◽  
Hemodialysis Patients ◽  
Uroporphyrinogen Decarboxylase ◽  
Hepatic Iron Overload ◽  
Proper Diagnosis

Porphyria cutanea tarda is a disorder of heme biosynthesis resulting from a defect or deficiency in the enzyme uroporphyrinogen decarboxylase. Heme precursors accumulate in the blood, urine, stool, and skin, where exposure to sunlight results in the clinical manifestations. Porphyria cutanea tarda has been described in adult hemodialysis patients. The pathogenesis of porphyria cutanea tarda in this population is thought to be related to the inability of hemodialysis to adequately clear porphyrin precursors, resulting in increased precursor serum levels, precursor skin deposition, and subsequent clinical manifestations. A proper diagnosis of porphyria cutanea tarda in hemodialysis patients requires fractionation of serum porphyrins. Normalization of the porphyrin profile and reversal of the dermal manifestations require the withdrawal of hepatotoxic agents and the reversal of hepatic iron overload. A case of porphyria cutanea tarda in an adult ESRD patient treated with continuous ambulatory peritoneal dialysis is described. In this patient, the disease was related to elevated serum levels of phenytoin, which had been administered for seizure disorder.

scholarly journals A unique case of ectopic pancreas presenting as jejunal malignance

2019 ◽  
Vol 2019 (7) ◽  
Author(s):  
Peng Zhang ◽  
Mojin Wang ◽  
Lifen Bai ◽  
Wen Zhuang
Keyword(s):  
Histopathological Examination ◽  
Epigastric Pain ◽  
Elevated Serum ◽  
Clinical Manifestations ◽  
Serum Levels ◽  
Carbohydrate Antigen ◽  
Ectopic Pancreas ◽  
Proximal Jejunum ◽  
Normal Ranges ◽  
Serum Cea

AbstractEctopic pancreas is defined as pancreatic tissues having no anatomic or vascular connections with the orthotopic pancreas. It is difficult for clinicians to diagnose this disease without performing a histopathological examination because it lacks specific clinical manifestations. This case report is of a 46-year-old woman who presented with epigastric pain. She had elevated serum levels of carcinoembryonic antigen (CEA) and carbohydrate antigen 72-4 (CA72-4). Abdominal contrast-enhanced computed tomography (CT) revealed a persistently enhanced mass in the proximal jejunum, which was confirmed as ectopic pancreas via histopathological examination. Her serum CEA and CA72-4 levels were restored to normal ranges after resecting the jejunal ectopic pancreas. This is the first reported case of ectopic pancreas causing an elevation in serum CEA and CA-724 levels; this report supports the metaplasia theory and suggests that jejunal masses should be cautiously diagnosed for avoiding unnecessary concerns among patients and their families.

scholarly journals Adult-onset hypoxaemia, diffuse lung lesions, and pulmonary hypertension in cobalamin C defect: a case report

2021 ◽  
Vol 5 (6) ◽  
Author(s):  
Qin-Hua Zhao ◽  
Wen-Hui Wu ◽  
Li-Jun Fu ◽  
Lan Wang
Keyword(s):  
Pulmonary Hypertension ◽  
Elevated Serum ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Autosomal Recessive Disorder ◽  
Serum Levels ◽  
Lung Lesions ◽  
The Central Nervous System ◽  
Metabolic Screening ◽  
Diffuse Lung

Abstract Background Cobalamin C (cbl-C) defect is an inherited autosomal recessive disorder that commonly affects the central nervous system of infants. Severe pulmonary hypertension (PH) and diffuse lung lesions are unusual clinical manifestations, especially among adults. Case summary A 25-year-old man with hypoxaemia, diffuse lung lesions, and PH, suddenly developed nausea, vomiting, headache, and worsening of dyspnoea. Metabolic screening showed elevated serum levels of methylmalonic acid and homocysteine, and genetic testing revealed MMACHC gene mutations. He was eventually diagnosed with severe PH secondary to cbl-C defect and was successfully managed with vitamin B12, betaine, L-carnitine, folate, as well as ambrisentan and sildenafil. Discussion cbl-C is a rare cause of PH and can present with severe PH and diffuse lung lesions in adults. Given that the condition is treatable, a careful metabolic screening should be considered when a diagnosis of PH is made.

scholarly journals Reassessing the Role of the Active TGF-β1 as a Biomarker in Systemic Sclerosis: Association of Serum Levels with Clinical Manifestations

2016 ◽  
Vol 2016 ◽  
pp. 1-6 ◽  
Author(s):  
Andréa Tavares Dantas ◽  
Sayonara Maria Calado Gonçalves ◽  
Anderson Rodrigues de Almeida ◽  
Rafaela Silva Guimarães Gonçalves ◽  
Maria Clara Pinheiro Duarte Sampaio ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Clinical Manifestations ◽  
Serum Levels ◽  
Vascular Involvement ◽  
Digital Ulcers ◽  
Serum Samples ◽  
Peripheral Blood Mononuclear ◽  
Pbmc Culture ◽  
Significant Difference ◽  
Skin Biopsies

Objective. To determine active TGF-β1 (aTGF-β1) levels in serum, skin, and peripheral blood mononuclear cell (PBMC) culture supernatants and to understand their associations with clinical parameters in systemic sclerosis (SSc) patients.Methods. We evaluated serum samples from 56 SSc patients and 24 healthy controls (HC). In 20 SSc patients, we quantified spontaneous or anti-CD3/CD28 stimulated production of aTGF-β1 by PBMC. The aTGF-β1 levels were measured by ELISA. Skin biopsies were obtained from 13 SSc patients and six HC, and TGFB1 expression was analyzed by RT-PCR.Results. TGF-β1 serum levels were significantly higher in SSc patients than in HC (p< 0.0001). Patients with increased TGF-β1 serum levels were more likely to have diffuse subset (p= 0.02), digital ulcers (p= 0.02), lung fibrosis (p< 0.0001), positive antitopoisomerase I (p= 0.03), and higher modified Rodnan score (p= 0.046). Most of our culture supernatant samples had undetectable levels of TGF-β1. No significant difference in TGFB1 expression was observed in the SSc skin compared with HC skin.Conclusion. Raised active TGF-β1 serum levels and their association with clinical manifestations in scleroderma patients suggest that this cytokine could be a marker of fibrotic and vascular involvement in SSc.

scholarly journals Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants

Diagnostics ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 1218
Author(s):  
Raffaella Brunetti-Pierri ◽  
Marianthi Karali ◽  
Francesco Testa ◽  
Gerarda Cappuccio ◽  
Maria Elena Onore ◽  
...  
Keyword(s):  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Brain Magnetic Resonance Imaging ◽  
Joubert Syndrome ◽  
Male Adult ◽  
Full Field ◽  
Pathogenic Variants ◽  
Disease Spectrum ◽  
Male Individual ◽  
The Central Nervous System

Pathogenic variants in the MKS1 gene are responsible for a ciliopathy with a wide spectrum of clinical manifestations ranging from Meckel and Joubert syndrome (JBTS) to Bardet-Biedl syndrome, and involving the central nervous system, liver, kidney, skeleton, and retina. We report a 39-year-old male individual presenting with isolated Retinitis Pigmentosa (RP), as assessed by full ophthalmological evaluation including Best-Corrected Visual Acuity measurements, fundus examination, Goldmann Visual Field test, and full-field Electroretinography. A clinical exome identified biallelic nonsense variants in MKS1 that prompted post-genotyping investigations for systemic abnormalities of ciliopathy. Brain magnetic resonance imaging revealed malformations of the posterior cranial fossa with the ‘molar tooth sign’ and cerebellar folia dysplasia, which are both distinctive features of JBTS. No other organ or skeletal abnormalities were detected. This case illustrates the power of clinical exome for the identification of the mildest forms of a disease spectrum, such as a mild JBTS with RP in the presented case of an individual carrying biallelic truncating variants in MKS1.

scholarly journals The Cytoskeletal Elements MAP2 and NF-L Show Substantial Alterations in Different Stroke Models While Elevated Serum Levels Highlight Especially MAP2 as a Sensitive Biomarker in Stroke Patients

2021 ◽  
Author(s):  
Bianca Mages ◽  
Thomas Fuhs ◽  
Susanne Aleithe ◽  
Alexandra Blietz ◽  
Constance Hobusch ◽  
...  
Keyword(s):  
Animal Models ◽  
Neuronal Damage ◽  
Degradation Products ◽  
Focal Cerebral Ischemia ◽  
Elevated Serum ◽  
Serum Levels ◽  
Ultrastructural Level ◽  
Stroke Patients ◽  
Protein Levels ◽  
Cytoskeletal Elements

AbstractIn the setting of ischemic stroke, the neurofilament subunit NF-L and the microtubule-associated protein MAP2 have proven to be exceptionally ischemia-sensitive elements of the neuronal cytoskeleton. Since alterations of the cytoskeleton have been linked to the transition from reversible to irreversible tissue damage, the present study investigates underlying time- and region-specific alterations of NF-L and MAP2 in different animal models of focal cerebral ischemia. Although NF-L is increasingly established as a clinical stroke biomarker, MAP2 serum measurements after stroke are still lacking. Therefore, the present study further compares serum levels of MAP2 with NF-L in stroke patients. In the applied animal models, MAP2-related immunofluorescence intensities were decreased in ischemic areas, whereas the abundance of NF-L degradation products accounted for an increase of NF-L-related immunofluorescence intensity. Accordingly, Western blot analyses of ischemic areas revealed decreased protein levels of both MAP2 and NF-L. The cytoskeletal alterations are further reflected at an ultrastructural level as indicated by a significant reduction of detectable neurofilaments in cortical axons of ischemia-affected areas. Moreover, atomic force microscopy measurements confirmed altered mechanical properties as indicated by a decreased elastic strength in ischemia-affected tissue. In addition to the results from the animal models, stroke patients exhibited significantly elevated serum levels of MAP2, which increased with infarct size, whereas serum levels of NF-L did not differ significantly. Thus, MAP2 appears to be a more sensitive stroke biomarker than NF-L, especially for early neuronal damage. This perspective is strengthened by the results from the animal models, showing MAP2-related alterations at earlier time points compared to NF-L. The profound ischemia-induced alterations further qualify both cytoskeletal elements as promising targets for neuroprotective therapies.

scholarly journals SAT0290 HIGH SERUM MYOSTATIN LEVELS SUGGEST ACCELERATED MUSCLE SENESCENCE IN ACTIVE IDIOPATHIC INFLAMMATORY MYOSITIS

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1089.2-1090
Author(s):  
A. Anuja ◽  
M. Singh ◽  
M. K. Rai ◽  
H. Singh ◽  
V. Agarwal ◽  
...  
Keyword(s):  
Young Adults ◽  
Elevated Serum ◽  
High Serum ◽  
Inactive Disease ◽  
Healthy Controls ◽  
Muscle Enzymes ◽  
Inflammatory Myositis ◽  
Idiopathic Inflammatory Myositis ◽  
Healthy Control ◽  
Accelerated Senescence

Background:Inflammation is the forerunner to fibrosis and premature ageing in various systemic diseases. Hence it seems plausible that idiopathic inflammatory myopathies (IIM) may exhibit accelerated senescence too.Objectives:Hence we investigated the Myostatin: Follistatin system in the serum as a reflection of early senescence in myositis as compared with healthy and diseased controls.Methods:Patients with inflammatory myositis (ACR/EULAR criteria) presenting to the wards and outpatient clinic between December 2017 to August 2019 were recruited. Those with active infection, pregnancy, renal dysfunction or chronic kidney disease were excluded. Apart from patient and disease variables, activity and damage were assessed using standard IMACS score set measures. Patients in inception cohort were additionally followed up at 1 and 6 months. Myostatin and Follistatin were estimated in sera using ELISA (R&D systems, USA). Juvenile myositis and young adults (18-40 years) were subsequently analyzed separately. Non-parametric tests were used for paired and unpaired analysis. Results expressed as median.Results:95 myositis (8 Juvenile myositis, 26 DM, 10 PM, 29 Overlap, 2 NAM 1 CAM and 19 ASS) patients (23 Male and 72 Female) with median age 38 (24.5-46.0) years and disease duration 0.9 (2.3-5.1) years were included. Serum Myostatin was lower in IIM than in healthy control (HC) (153.5 vs. 243.6 p<0.0001, Fig 1A) but higher in IIM as compared with disease controls (153.5 vs 86.1 p=0.0174 Fig. 1B). Serum myostatin was comparable between juvenile and adult myositis and in the various subsets of adult myositis (Fig. 1 C and D). Myostatin levels were higher in active as compared with inactive myositis in young adults (211.7 vs. 158.9, p=0.0149, Figure 1E). Serum Myostatin correlated with height (r 0.3, p=0.003) and weight (r 0.2, p=0.047) but not MMT8 or muscle enzymes.Figure 1.Serum Myostatin levels in IIM as compared with healthy controls (A) and disease controls (B). Levels in juvenile myositis as compared with adult IIM (C) and in various subsets of IIM (D). Serum Myostatin levels in active and inactive disease (E).Although Follistatin was lower in IIM than HC (198.4 vs 243.6, p=<0.0001), the neither Follistatin nor Myostatin: Follistatin ratios differ between subsets, and in active versus inactive disease Figure 2 A-D). On follow-up, the serial Myostatin estimation paralleled change in disease activity.Figure 2.Serum Follistatin levels in IIM as compared with healthy controls (A) and disease controls (C). Levels in juvenile and adult IIM (D) and in various subsets of IIM (D).Conclusion:Elevated serum Myostatin levels in active myositis raise the possibility of accelerated senescence in the inflamed muscle tissues which need further investigation.Acknowledgments: :Partly funded by APLAR and IRA research grants awarded to LG.Disclosure of Interests:None declared

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