scholarly journals Serum biomarkers in primary mitochondrial disorders

2021 ◽  
Author(s):  
Kristin N Varhaug ◽  
Omar Hikmat ◽  
Hanne Linda Nakkestad ◽  
Christian A Vedeler ◽  
Laurence A Bindoff
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Mitochondrial Disease ◽  
Central Nervous System Involvement ◽  
Mitochondrial Disorders ◽  
Serum Biomarkers ◽  
Fibroblast Growth Factor 21 ◽  
Enzyme Linked Immunosorbent Assay ◽  
Mitochondrial Dna Deletion ◽  
Muscle Involvement

Abstract The aim of this study was to explore the utility of the serum biomarkers neurofilament light chain (NF-L), fibroblast growth factor 21 (FGF-21) and growth and differentiation factor 15 (GDF-15) in diagnosing primary mitochondrial disorders. We measured serum NF-L, FGF-21 and GDF-15 in 26 patients with a genetically proven mitochondrial disease. FGF-21 and GDF-15 were measured by enzyme-linked immunosorbent assay and NF-L with the Simoa assay. NF-L was highest in patients with multisystemic involvement that included the central nervous system such as those with the m.3242A>G mutation. Mean NF-L was also highest in patients with epilepsy versus those without (49.74 pg/ml versus 19.7 pg/ml (p = 0.015)), while FGF-21 and GDF-15 levels were highest in patients with prominent myopathy, such as those with single mitochondrial DNA deletion. Our results suggest that the combination of NF-L, FGF-21 and GDF-15 is useful in the diagnostic evaluation of mitochondrial disease. GDF-15 and FGF-21 identify those with muscle involvement while NF-L is a clear marker for central nervous system involvement independent of underlying mitochondrial pathology. Levels of NF-L appear to correlate with the degree of ongoing damage suggesting, therefore, that monitoring NF-L levels may provide prognostic information and a way of monitoring disease activity.

MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement

Mitochondrion ◽  
2013 ◽  
Vol 13 (4) ◽  
pp. 364-371 ◽  
Author(s):  
Kalliopi Sofou ◽  
Karin Steneryd ◽  
Lars-Martin Wiklund ◽  
Már Tulinius ◽  
Niklas Darin
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Central Nervous System Involvement ◽  
Mitochondrial Disorders ◽  
Childhood Onset ◽  
System Involvement ◽  
The Brain

scholarly journals Brain Activation in Normal Subjects and in Patients Affected by Mitochondrial Disease without Clinical Central Nervous System Involvement: A Phosphorus Magnetic Resonance Spectroscopy Study

2001 ◽  
Vol 21 (1) ◽  
pp. 85-91 ◽  
Author(s):  
Mario Rango ◽  
Marco Bozzali ◽  
Alessandro Prelle ◽  
Guglielmo Scarlato ◽  
Nereo Bresolin
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Magnetic Resonance ◽  
Magnetic Resonance Spectroscopy ◽  
Mitochondrial Disease ◽  
Central Nervous System Involvement ◽  
Normal Subjects ◽  
Resonance Spectroscopy ◽  
System Involvement ◽  
Brain Energetics

It remains unclear whether brain energetics is disturbed in patients with mitochondrial disease without clinical central nervous system involvement (MDW). The authors used the high temporal and spatial resolution phosphorus magnetic resonance spectroscopy (31P MRS) technique that they developed to study high energy phosphates (HEPs) and intracellular pH (pH) in the visual cortex of 9 normal subjects and 5 MDW patients with single mtDNA deletion at rest, during, and after visual activation. In normal subjects, HEPs remained unchanged during activation but rose significantly (by 17%) during recovery, and pH increased during visual activation with a slow return to rest values. In MDW patients, HEPs were within the normal range at rest and did not change during activation, but fell significantly (by 22%) in the recovery period; pH did not reveal a homogeneous pattern. In the brain of patients with MDW, energy balance remains normal until oxidative metabolism is intensively stressed, as during a postactivation phase. The heterogeneity of the physicochemical environment (that is, pH) suggests various degrees of subclinical brain involvement. The combined use of MRS and brain activation is fundamental for the study of brain energetics and may prove an important diagnostic tool in patients with MDW.

scholarly journals Central Nervous System Vasculitis as a Rare Presentation of Mycoplasma pneumoniae: A Case Report

2020 ◽  
Vol 12 (3) ◽  
pp. 402-409
Author(s):  
Ashraf Omer Elamin Ahmed ◽  
Mona Mohammad Ibraheem Babikir ◽  
Amir Elssoni Mahjoup Khojali ◽  
Suresh Nalaka Menik Arachchige ◽  
Abdirahman Mohamud Abdirahman ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Lower Respiratory Tract ◽  
Respiratory Tract Infections ◽  
Central Nervous System Involvement ◽  
Lower Respiratory Tract Infections ◽  
Central Nervous System Vasculitis ◽  
Rare Presentation ◽  
Systemic Involvement ◽  
Tract Infections

<i>Mycobacteria pneumoniae</i> (MP) commonly causes upper and lower respiratory tract infections. The clinical manifestation is classified as pulmonary and extrapulmonary. These manifestations vary according to the involved system. MP may affect one system or more at a time. Commonly prodromal respiratory symptoms precede systemic involvement. Central nervous system involvement in uncommon. This report is presenting a rare case of central nervous system vasculitis secondary to MP, highlighting the diagnosis and management with a succinct literature review.

scholarly journals Acute exudative polymorphous paraneoplastic vitelliform maculopathy (AEPPVM) associated with choroidal melanoma

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Aluisio Rosa Gameiro Filho ◽  
Guilherme Sturzeneker ◽  
Ever Ernesto Caso Rodriguez ◽  
André Maia ◽  
Melina Correia Morales ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Serous Retinal Detachment ◽  
Central Nervous System Involvement ◽  
Choroidal Melanoma ◽  
Posterior Pole ◽  
Pancreatic Metastasis ◽  
Small Areas ◽  
History Of ◽  
The Right

Abstract Background To report a case of acute exudative polymorphous paraneoplastic vitelliform maculopathy in a patient with a history of choroidal melanoma, with metastases to the pancreas, liver, and central nervous system. Case presentation A 63-year-old patient, with a history of enucleation of the right eye due to choroidal melanoma, complained of progressive visual loss during a follow-up visit. Fundoscopic examination revealed multiple small areas of serous retinal detachment scattered throughout the posterior pole and ancillary tests confirmed the diagnosis of acute exudative polymorphous paraneoplastic vitelliform maculopathy (AEPPVM). Screening for systemic metastases showed pancreatic, hepatic, and central nervous system involvement. Conclusions We describe a rare case of acute exudative polymorphous paraneoplastic vitelliform maculopathy, which should be considered in patients with or without a history of melanoma, who have vitelliform retinal detachments. Nevertheless, no previous reviews of literature have shown a correlation between AEPPVM and pancreatic metastasis.

scholarly journals Treatment of secondary central nervous system involvement in systemic aggressive B cell lymphoma using R-MIADD chemotherapy: a single-center study

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Yuchen Wu ◽  
Xuefei Sun ◽  
Xueyan Bai ◽  
Jun Qian ◽  
Hong Zhu ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Central Nervous System Involvement ◽  
Central Nervous System Lymphoma ◽  
Progression Free Survival ◽  
B Cell Lymphoma ◽  
High Dose ◽  
Cns Involvement ◽  
The Central Nervous System ◽  
Secondary Central Nervous System

Abstract Background Secondary central nervous system lymphoma (SCNSL) is defined as lymphoma involvement within the central nervous system (CNS) that originated elsewhere, or a CNS relapse of systemic lymphoma. Prognosis of SCNSL is poor and the most appropriate treatment is still undetermined. Methods We conducted a retrospective study to assess the feasibility of an R-MIADD (rituximab, high-dose methotrexate, ifosfamide, cytarabine, liposomal formulation of doxorubicin, and dexamethasone) regimen for SCNSL patients. Results Nineteen patients with newly diagnosed CNS lesions were selected, with a median age of 58 (range 20 to 72) years. Out of 19 patients, 11 (57.9%) achieved complete remission (CR) and 2 (10.5%) achieved partial remission (PR); the overall response rate was 68.4%. The median progression-free survival after CNS involvement was 28.0 months (95% confidence interval 11.0–44.9), and the median overall survival after CNS involvement was 34.5 months. Treatment-related death occurred in one patient (5.3%). Conclusions These single-centered data underscore the feasibility of an R-MIADD regimen as the induction therapy of SCNSL, further investigation is warranted.

Central nervous system involvement in childhood brucellosis

2001 ◽  
Vol 21 (3) ◽  
pp. 291-292 ◽  
Author(s):  
Hüseyin Çaksen ◽  
Dursun Odabaş ◽  
Şükrü Arslan ◽  
Ahmet Faik Oner
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Central Nervous System Involvement ◽  
System Involvement

Central nervous system involvement in Parotitis

1949 ◽  
Vol 35 (5) ◽  
pp. 561-566 ◽  
Author(s):  
Max J. Fox ◽  
Bruce F. Grotts
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Central Nervous System Involvement ◽  
System Involvement
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