Infantile Refsum Disease Associated with Hypobetalipoproteinemia

2018 ◽  
Vol 17 (06) ◽  
pp. 210-212
Author(s):  
Muneaki Matsuo ◽  
Tsugio Akutsu ◽  
Naomi Kanazawa ◽  
Nobuyuki Shimozawa
Keyword(s):  
Clinical Symptoms ◽  
Clinical Severity ◽  
Homozygous Mutation ◽  
Refsum Disease ◽  
Long Chain Fatty Acids ◽  
Mild Mental Retardation ◽  
Peroxisome Biogenesis ◽  
Oral Supplementation ◽  
Wide Range ◽  
Infantile Refsum Disease

Infantile Refsum disease (IRD) is a rare peroxisome biogenesis disorder with wide range of clinical severity. Herein, we report a mild form of IRD who had been followed as a symptomatic hypobetalipoproteinemia resembling with abetalipoproteinemia. At 6 years of age, the patient was diagnosed as having hypobetalipoproteinemia with spinocerebellar degeneration, peripheral neuropathy, retinitis pigmentosa, mild mental retardation, and sensorineural hearing loss. Although low vitamin E levels normalized after oral supplementation, the patient's clinical symptoms worsened very slowly. At 30 years of age, elevated levels of very long chain fatty acids and phytanic acid and decreased plasmalogen levels were detected in the plasma. Genetic analysis revealed a homozygous mutation of Q67R in PEX10.Although hypocholesterolemia is relatively common in IRD, it has been overlooked so far. Since there are many similarities between IRD and abetalipoproteinemia or symptomatic hypobetalipoproteinemia, care should be taken to differentiate symptomatic hypobetalipoproteinemia from IRD.

scholarly journals Nuclear Envelope Integrity in Health and Disease: Consequences on Genome Instability and Inflammation

2021 ◽  
Vol 22 (14) ◽  
pp. 7281
Author(s):  
Benoit R. Gauthier ◽  
Valentine Comaills
Keyword(s):  
Nuclear Envelope ◽  
Clinical Symptoms ◽  
Genome Instability ◽  
Chromosomal Rearrangements ◽  
Wide Range ◽  
Complex Chromosomal Rearrangements ◽  
Health And Disease ◽  
Dna Release ◽  
Sting Pathway ◽  
Eukaryote Genome

The dynamic nature of the nuclear envelope (NE) is often underestimated. The NE protects, regulates, and organizes the eukaryote genome and adapts to epigenetic changes and to its environment. The NE morphology is characterized by a wide range of diversity and abnormality such as invagination and blebbing, and it is a diagnostic factor for pathologies such as cancer. Recently, the micronuclei, a small nucleus that contains a full chromosome or a fragment thereof, has gained much attention. The NE of micronuclei is prone to collapse, leading to DNA release into the cytoplasm with consequences ranging from the activation of the cGAS/STING pathway, an innate immune response, to the creation of chromosomal instability. The discovery of those mechanisms has revolutionized the understanding of some inflammation-related diseases and the origin of complex chromosomal rearrangements, as observed during the initiation of tumorigenesis. Herein, we will highlight the complexity of the NE biology and discuss the clinical symptoms observed in NE-related diseases. The interplay between innate immunity, genomic instability, and nuclear envelope leakage could be a major focus in future years to explain a wide range of diseases and could lead to new classes of therapeutics.

Prodromal Dementia With Lewy Bodies: Evolution of Symptoms and Predictors of Dementia Onset

2021 ◽  
pp. 089198872110235
Author(s):  
Kathryn A. Wyman-Chick ◽  
Lauren R. O’Keefe ◽  
Daniel Weintraub ◽  
Melissa J. Armstrong ◽  
Michael Rosenbloom ◽  
...  
Keyword(s):  
Clinical Features ◽  
Dementia With Lewy Bodies ◽  
Clinical Symptoms ◽  
Neuropsychiatric Symptoms ◽  
Lewy Bodies ◽  
Rem Sleep Behavior Disorder ◽  
Data Set ◽  
Wide Range ◽  
Prodromal Dementia ◽  
Dementia Onset

Background: Research criteria for prodromal dementia with Lewy bodies (DLB) were published in 2020, but little is known regarding prodromal DLB in clinical settings. Methods: We identified non-demented participants without neurodegenerative disease from the National Alzheimer’s Coordinating Center Uniform Data Set who converted to DLB at a subsequent visit. Prevalence of neuropsychiatric and motor symptoms were examined up to 5 years prior to DLB diagnosis. Results: The sample included 116 participants clinically diagnosed with DLB and 348 age and sex-matched (1:3) Healthy Controls. Motor slowing was present in approximately 70% of participants 3 years prior to DLB diagnosis. In the prodromal phase, 50% of DLB participants demonstrated gait disorder, 70% had rigidity, 20% endorsed visual hallucinations, and over 50% of participants endorsed REM sleep behavior disorder. Apathy, depression, and anxiety were common prodromal neuropsychiatric symptoms. The presence of 1+ core clinical features of DLB in combination with apathy, depression, or anxiety resulted in the greatest AUC (0.815; 95% CI: 0.767, 0.865) for distinguishing HC from prodromal DLB 1 year prior to diagnosis. The presence of 2+ core clinical features was also accurate in differentiating between groups (AUC = 0.806; 95% CI: 0.756, 0.855). Conclusion: A wide range of motor, neuropsychiatric and other core clinical symptoms are common in prodromal DLB. A combination of core clinical features, neuropsychiatric symptoms and cognitive impairment can accurately differentiate DLB from normal aging prior to dementia onset.

scholarly journals 440. Clinical Characteristics of Early Noncritical Hospitalized Patients with Coronavirus Disease 2019 (COVID-19): A Single-Center Retrospective Study in New York City

2020 ◽  
Vol 7 (Supplement_1) ◽  
pp. S287-S288
Author(s):  
Michelle Lee ◽  
Mona Fayad ◽  
Tarub Mabud ◽  
Paulino Tallon de Lara ◽  
Adiac Espinosa Hernandez ◽  
...  
Keyword(s):  
New York ◽  
New York City ◽  
York City ◽  
Clinical Laboratory ◽  
Clinical Symptoms ◽  
New York State ◽  
General Medicine ◽  
Retrospective Chart Review ◽  
Clinical Severity ◽  
Study Cohort

Abstract Background COVID-19 first originated in Wuhan, China, in December 2019. As of April 9, 2020, New York State had become the single largest global epicenter of COVID-19. Methods This is a retrospective chart review of the first 33 patients with RT-PCR-confirmed COVID-19 admitted from the emergency department to a general medicine unit in a single academic hospital in New York City between March 11th to March 27th, 2020. Patient’s demographic, clinical, laboratory, radiographic investigations, treatments and clinical outcomes were retrospectively extracted from the electronic medical record and followed until April 10th, 2020. Patients were divided into severe and nonsevere sub-cohorts. Statistics were descriptive in nature. Results The study cohort (median age 68 yr, 67% male) presented with subjective fevers (82%), cough (88%), and dyspnea (76%). The median incubation period was 3 days. Most cases met SIRS criteria upon admission (76%). Patients had elevated inflammatory markers. Patients were treated with antimicrobials, corticosteroids, hydroxychloroquine, and varying levels of supplemental oxygen. Mortality was 15% and 18% of the cohort required intensive care services. Conclusion Patient age, presenting clinical symptoms, comorbidity profile, laboratory biomarkers, and radiographic features are consistent with findings published from China. Severe patients had peaks in inflammatory biomarkers later in the hospitalization, which may be useful to trend. Further studies are necessary to create guidelines to better risk-stratify COVID-19 patients based on clinical severity. Disclosures All Authors: No reported disclosures

Clinical Features and Endolymphatic Hydrops in Patients With MRI Evidence of Hydrops

2018 ◽  
Vol 128 (4) ◽  
pp. 286-292 ◽  
Author(s):  
Suming Shi ◽  
Ping Guo ◽  
Wenquan Li ◽  
Wuqing Wang
Keyword(s):  
Diagnostic Criteria ◽  
Clinical Features ◽  
Clinical Characteristics ◽  
Clinical Symptoms ◽  
Endolymphatic Hydrops ◽  
Low Frequency ◽  
Clinical Severity ◽  
Mri Findings ◽  
Vestibular Symptoms ◽  
Magnetic Resonance Imaging Mri

Objectives: The purpose of this study was to investigate the correlation between grades of endolymphatic hydrops (ELH) and clinical characteristics and determine the detailed clinical characteristics of Ménière’s disease (MD) patients with evidence of hydrops based on magnetic resonance imaging (MRI). Methods: One hundred ninety-eight MD patients (396 ears) with MRI evidence of hydrops were included. ELH grades were evaluated using the Nakashima grading standard. Correlations between the extent of ELH and clinical features were evaluated. Detailed clinical characteristics were analyzed to assess the clinical diagnostic criteria. Results: Of 198 patients, ELH was observed in 100% of cases on the clinically affected side and 8.6% of cases on the asymptomatic side. In addition, 98.5% of ELH was classified as moderate or significant grade. Low-frequency hearing loss was significantly correlated with the extent of both vestibular and cochlear hydrops, whereas the vertigo attack frequency showed no significant correlation with ELH grades. The disease duration of MD with bilateral ELH was longer than that with unilateral ELH. The clinical characteristics were variant and did not completely fit the proposed diagnostic criteria. Conclusions: MRI findings have relevance to the clinical severity, to a certain extent, but not vestibular symptoms. The proposed diagnostic criteria based on clinical characteristics may be partially effective; analysis of the detailed clinical characteristics of MD was meaningful. Diagnosis of MD based on both MRI and clinical symptoms could facilitate an early diagnosis.

Autopsy findings in two siblings with infantile Refsum disease

1992 ◽  
Vol 83 (2) ◽  
pp. 190-195 ◽  
Author(s):  
C. W. Chow ◽  
A. Poulos ◽  
A. J. Fellenberg ◽  
J. Christodoulou ◽  
D. M. Danks
Keyword(s):  
Refsum Disease ◽  
Autopsy Findings ◽  
Infantile Refsum Disease

scholarly journals Agenesis of Isthmus of the Thyroid Gland in a Patient with Graves-Basedow Disease and a Solitary Nodule

2013 ◽  
Vol 2013 ◽  
pp. 1-2
Author(s):  
Omer Faruk Ozkan ◽  
Mehmet Asık ◽  
Huseyin Toman ◽  
Faruk Ozkul ◽  
Oztekin Cıkman ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Thyroid Gland ◽  
Surgical Procedures ◽  
Congenital Anomalies ◽  
Clinical Symptoms ◽  
Endocrine Gland ◽  
Solitary Nodule ◽  
Rare Congenital Anomaly ◽  
Wide Range

The thyroid is a vascular endocrine gland with two lateral lobes connected by a narrow, median isthmus. Although a wide range of congenital anomalies of the thyroid gland has been reported in the literature, agenesis of the thyroid isthmus is a very rare congenital anomaly. Thyroid isthmus agenesis does not manifest clinical symptoms, and it can be confused with other thyroid pathologies. We describe a patient with no isthmus of the thyroid, associated with Graves-Basedow disease. Thyroid isthmus agenesis should be kept in mind in order for surgical procedures involving thyroid pathologies to be carried out safely.

scholarly journals Difference in electron microscopic findings among interstitial cystitis/bladder pain syndrome with distinct clinical and cystoscopic characteristics

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Yu Khun Lee ◽  
Jia-Fong Jhang ◽  
Yuan-Hong Jiang ◽  
Yung-Hsiang Hsu ◽  
Han-Chen Ho ◽  
...  
Keyword(s):  
Interstitial Cystitis ◽  
Clinical Symptoms ◽  
Pain Syndrome ◽  
Bladder Pain Syndrome ◽  
Clinical Severity ◽  
Electron Microscopic ◽  
Bladder Pain ◽  
Cell Layers ◽  
Umbrella Cells ◽  
Microscopic Findings

AbstractUrothelial dysfunction may be a key pathomechanism underlying interstitial cystitis/bladder pain syndrome (IC/BPS). We therefore examined if clinical severity is associated with the extent of urothelial damage as revealed by electron microscopic (EM) analysis of biopsy tissue. One hundred IC/BPS patients were enrolled and 24 patients with stress urinary incontinence served as controls. Clinical symptoms were evaluated by visual analog scale pain score and O’Leary-Sant Symptom score. Bladder biopsies were obtained following cystoscopic hydrodistention. The presence of Hunner’s lesions and glomerulation grade after hydrodistention were recorded and patients classified as Hunner-type IC (HIC) or non-Hunner-type IC (NHIC). HIC patients exhibited more severe defects in urothelium cell layers, including greater loss of umbrella cells, umbrella cell surface uroplakin plaque, and tight junctions between adjacent umbrella cells, compared to control and NHIC groups (all p < 0.05). Both NHIC and HIC groups demonstrated more severe lamina propria inflammatory cell infiltration than controls (p = 0.011, p < 0.001, respectively). O’Leary-Sant Symptom scores were significantly higher among patients with more severe urothelial defects (p = 0.030). Thus, urothelium cell layer defects on EM are associated with greater clinical symptom severity.

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