Late onset of atypical paroxysmal non-kinesigenic dyskinesia with remote history of Graves’ disease

ABSTRACTParoxysmal non-kinesigenic dyskinesia (PNKD) is a rare hyperkinetic movement disorder and falls under the category of paroxysmal movement disorders. In this condition, episodes are spontaneous, involuntary, and involve dystonic posturing with choreic and ballistic movements. Attacks last for minutes to hours and rarely occur more than once per day. Attacks are not typically triggered by sudden movement, but may be brought on by alcohol, caffeine, stress, fatigue, or chocolate. We report a patient with multiple atypical features of PNKD. She had a 7-year history of this condition with onset at the age of 59, and a remote history of Graves’ disease requiring total thyroidectomy. The frequency of attacks in our case ranged from five to six times a day to a minimum of twice per week, and the duration of episode was short, lasting not more than 2 min. Typically, PNKDs occur at a much younger age and have longer attack durations with low frequency. Administering clonazepam worked to reduce her symptoms, although majority of previous research suggests that pharmacological interventions have poor outcomes.

Download Full-text

A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia

Journal of Clinical Medicine ◽

10.3390/jcm8060789 ◽

2019 ◽

Vol 8 (6) ◽

pp. 789 ◽

Cited By ~ 4

Author(s):

Charlotte M. Zierz ◽

Karen Baty ◽

Emma L. Blakely ◽

Sila Hopton ◽

Gavin Falkous ◽

...

Keyword(s):

Mitochondrial Dna ◽

Cerebellar Ataxia ◽

Dna Analysis ◽

Late Onset ◽

Axonal Neuropathy ◽

Low Frequency ◽

Complex Iv ◽

Progressive Cerebellar Ataxia ◽

Electrophysiological Studies ◽

History Of

Both nuclear and mitochondrial DNA defects can cause isolated cytochrome c oxidase (COX; complex IV) deficiency, leading to the development of the mitochondrial disease. We report a 52-year-old female patient who presented with a late-onset, progressive cerebellar ataxia, tremor and axonal neuropathy. No family history of neurological disorder was reported. Although her muscle biopsy demonstrated a significant COX deficiency, there was no clinical and electromyographical evidence of myopathy. Electrophysiological studies identified low frequency sinusoidal postural tremor at 3 Hz, corroborating the clinical finding of cerebellar dysfunction. Complete sequencing of the mitochondrial DNA genome in muscle identified a novel MT-CO2 variant, m.8163A>G predicting p.(Tyr193Cys). We present several lines of evidence, in proving the pathogenicity of this heteroplasmic mitochondrial DNA variant, as the cause of her clinical presentation. Our findings serve as an important reminder that full mitochondrial DNA analysis should be included in the diagnostic pipeline for investigating individuals with spinocerebellar ataxia.

Download Full-text

The Unusual Late-Onset Graves’ Disease following Hashimoto’s Related Hypothyroidism: A Case Report and Literature Review

Case Reports in Endocrinology ◽

10.1155/2020/5647273 ◽

2020 ◽

Vol 2020 ◽

pp. 1-4

Author(s):

Aseel Sukik ◽

Sara Mohamed ◽

Mhd-Baraa Habib ◽

Sundus Sardar ◽

Bashar Tanous ◽

...

Keyword(s):

Literature Review ◽

Thyroid Hormone Receptor ◽

Late Onset ◽

Thyroid Function Test ◽

Graves Disease ◽

Thyroid Mass ◽

Scoping Literature Review ◽

History Of ◽

Antibody Titers ◽

Antithyroid Agents

Background. The shift of Graves’ disease (GD) to Hashimoto’s disease- (HD-) related hypothyroidism is well established. However, the opposite is rare. This is likely to the loss of critical thyroid mass available for stimulation by thyroid hormone receptor stimulating antibody, making this shift unusual. Herein, we report a young lady with a late shift from HD into GD and present a scoping literature review. Case presentation. We report a twenty-five-year-old lady with a sixteen-year-history of Hashimoto’s-related hypothyroidism stable on levothyroxine. While following in the clinic, she started developing thyrotoxic symptoms in the form of anxiety, weight loss, and palpitation. Physical examination was remarkable for mild exophthalmos. The thyroid function test confirmed hyperthyroidism. Levothyroxine-induced hyperthyroidism was initially suspected; however, the symptoms did not improve despite reducing and stopping levothyroxine. Subsequent workup confirmed the diagnosis of GD. Discussion and Conclusion. This case highlights a unique association that has significant diagnostic and management implications. This shift should be considered when hyperthyroidism persists despite reducing or stopping levothyroxine. The diagnosis is made utilizing antibody titers and radioiodine update scan. While the management depends on the disease’s stage and the treating physician preference, antithyroid agents can be used initially. Following up these patients is essential as the shift can be transient.

Download Full-text

Guideline for radioiodine therapy for benign thyroid diseases (version 3)

Nuklearmedizin ◽

10.1055/s-0038-1623919 ◽

2004 ◽

Vol 43 (06) ◽

pp. 217-220 ◽

Cited By ~ 8

Author(s):

J. Dressler ◽

F. Grünwald ◽

B. Leisner ◽

E. Moser ◽

Chr. Reiners ◽

...

Keyword(s):

Radioiodine Therapy ◽

Thyroid Volume ◽

Thyroid Diseases ◽

Antithyroid Drugs ◽

Graves Disease ◽

Co Morbidity ◽

History Of ◽

Individual Decisions ◽

Prophylactic Use ◽

Benign Thyroid

SummaryThe version 3 of the guideline for radioiodine therapy for benign thyroid diseases presents first of all a revision of the version 2. The chapter indication for radioiodine therapy, surgical treatment or antithyroid drugs bases on an interdisciplinary consensus. The manifold criteria for decision making consider the entity of thyroid disease (autonomy, Graves’ disease, goitre, goitre recurrence), the thyroid volume, suspicion of malignancy, cystic nodules, risk of surgery and co-morbidity, history of subtotal thyroidectomy, persistent or recurrent thyrotoxicosis caused by Graves’ disease including known risk factors for relapse, compression of the trachea caused by goitre, requirement of direct therapeutic effect as well as the patient’s preference. Because often some of these criteria are relevant, the guideline offers the necessary flexibility for individual decisions. Further topics are patients’ preparation, counseling, dosage concepts, procedural details, results, side effects and follow-up care. The prophylactic use of glucocorticoids during radioiodine therapy in patients without preexisting ophthalmopathy as well as dosage and duration of glucocorticoid medication in patients with preexisting ophthalmopathy need to be clarified in further studies. The pragmatic recommendations for the combined use of radioiodine and glucocorticoids remained unchanged in the 3rd version.

Download Full-text

The natural history of subclinical hyperthyroidism due to Graves' disease

Endocrine Abstracts ◽

10.1530/endoabs.38.p435 ◽

2015 ◽

Author(s):

Sviatlana Zhyzhneuskaya ◽

Caroline Addison ◽

Jola Weaver ◽

Vasileios Tsatlidis ◽

Salman Razvi

Keyword(s):

Natural History ◽

Graves Disease ◽

Subclinical Hyperthyroidism ◽

History Of

Download Full-text

An Obscure Colon Dilatation and its Underlying Cause: Case Report and Literature Review

10.31487/j.gscr.2020.01.03 ◽

2020 ◽

pp. 1-5

Author(s):

Anton Stift ◽

Kerstin Wimmer ◽

Felix Harpain ◽

Katharina Wöran ◽

Thomas Mang ◽

...

Keyword(s):

Case Report ◽

Sigmoid Colon ◽

Immunohistochemical Staining ◽

Late Onset ◽

Hirschsprung Disease ◽

Endoscopic Examination ◽

Case Presentation ◽

Idiopathic Megacolon ◽

History Of ◽

Cells Of Cajal

Introduction: Congenital as well as acquired diseases may be responsible for the development of a megacolon. In adult patients, Clostridium difficile associated infection as well as late-onset of Morbus Hirschsprung disease are known to cause a megacolon. In addition, malignant as well as benign colorectal strictures may lead to intestinal dilatation. In case of an idiopathic megacolon, the underlying cause remains unclear. Case Presentation: We describe the case of a 44-year-old male patient suffering from a long history of chronic constipation. He presented himself with an obscurely dilated large intestine with bowel loops up to 17 centimeters in diameter. Radiological as well as endoscopic examination gave evidence of a spastic process in the sigmoid colon. The patient was treated with a subtotal colectomy and the intraoperative findings revealed a stenotic stricture in the sigmoid colon. Since the histological examination did not find a conclusive reason for the functional stenosis, an immunohistochemical staining was advised. This showed a decrease in interstitial cells of Cajal (ICC) in the stenotic part of the sigmoid colon. Discussion: This case report describes a patient with an idiopathic megacolon, where the underlying cause remained unclear until an immunohistochemical staining of the stenotic colon showed a substantial decrease of ICCs. Various pathologies leading to a megacolon are reviewed and discussed.

Download Full-text

Glucose Levels and Outcome After Primary Intraventricular Hemorrhage

Current Neurovascular Research ◽

10.2174/1567202616666190131164108 ◽

2019 ◽

Vol 16 (1) ◽

pp. 40-46

Author(s):

Rui Guo ◽

Ruiqi Chen ◽

Chao You ◽

Lu Ma ◽

Hao Li ◽

...

Keyword(s):

Diabetes Mellitus ◽

Blood Glucose ◽

Blood Glucose Level ◽

Incidence Rate ◽

Glucose Level ◽

Intraventricular Hemorrhage ◽

Laboratory Data ◽

History Of ◽

Poor Outcomes ◽

The Impact

Background and Purpose: Hyperglycemia is reported to be associated with poor outcome in patients with spontaneous Intracerebral Hemorrhage (ICH), but the association between blood glucose level and outcomes in Primary Intraventricular Hemorrhage (PIVH) remains unclear. We sought to identify the parameters associated with admission hyperglycemia and analyze the impact of hyperglycemia on clinical outcome in patients with PIVH. Methods: Patients admitted to Department of Neurosurgery, West China Hospital with PIVH between 2010 and 2016 were retrospectively included in our study. Clinical, radiographic, and laboratory data were collected. Univariate and multivariate logistic regression analyses were used to identify independent predictors of poor outcomes. Results: One hundred and seventy patients were included in the analysis. Mean admission blood glucose level was 7.78±2.73 mmol/L and 10 patients (5.9%) had a history of diabetes mellitus. History of diabetes mellitus (P = 0.01; Odds Ratio [OR], 9.10; 95% Confidence Interval [CI], 1.64 to 50.54) was independent predictor of admission critical hyperglycemia defined at 8.17 mmol/L. Patients with admission critical hyperglycemia poorer outcome at discharge (P < 0.001) and 90 days (P < 0.001). After adjustment, admission blood glucose was significantly associated with discharge (P = 0.01; OR, 1.30; 95% CI, 1.06 to 1.59) and 90-day poor outcomes (P = 0.03; OR, 1.27; 95% CI, 1.03 to 1.58), as well as mortality at 90 days (P = 0.005; OR, 1.41; 95% CI, 1.11 to 1.78). In addition, admission critical hyperglycemia showed significantly increased the incidence rate of pneumonia in PIVH (P = 0.02; OR, 6.04; 95% CI 1.27 to 28.80) even after adjusting for the confounders. Conclusion: Admission blood glucose after PIVH is associated with discharge and 90-day poor outcomes, as well as mortality at 90 days. Admission hyperglycemia significantly increases the incidence rate of pneumonia in PIVH.

Download Full-text

High Risk of One-year Stroke Recurrence in Patients with Younger Age and Prior History of Ischemic Stroke

Current Neurovascular Research ◽

10.2174/1567202616666190618164528 ◽

2019 ◽

Vol 16 (3) ◽

pp. 250-257 ◽

Cited By ~ 1

Author(s):

Jiann-Der Lee ◽

Ya-Han Hu ◽

Meng Lee ◽

Yen-Chu Huang ◽

Ya-Wen Kuo ◽

...

Keyword(s):

Logistic Regression ◽

Ischemic Stroke ◽

Multivariate Logistic Regression Analysis ◽

Stroke Recurrence ◽

Prior History ◽

Multivariate Logistic Regression ◽

Cart Analysis ◽

Younger Age ◽

History Of ◽

One Year

Background and Purpose: Recurrent ischemic strokes increase the risk of disability and mortality. The role of conventional risk factors in recurrent strokes may change due to increased awareness of prevention strategies. The aim of this study was to explore the potential risk factors besides conventional ones which may help to affect the advances in future preventive concepts associated with one-year stroke recurrence (OSR). Methods: We analyzed 6,632 adult patients with ischemic stroke. Differences in clinical characteristics between patients with and without OSR were analyzed using multivariate logistic regression and classification and regression tree (CART) analyses. Results: Among the study population, 525 patients (7.9%) had OSR. Multivariate logistic regression analysis revealed that male sex (OR 1.243, 95% CI 1.025 – 1.506), age (OR 1.015, 95% CI 1.007 - 1.023), and a prior history of ischemic stroke (OR 1.331, 95% CI 1.096 – 1.615) were major factors associated with OSR. CART analysis further identified age and a prior history of ischemic stroke were important factors for OSR when classified the patients into three subgroups (with risks of OSR of 8.8%, 3.8%, and 12.5% for patients aged > 57.5 years, ≤ 57.5 years/with no prior history of ischemic stroke, and ≤ 57.5 years/with a prior history of ischemic stroke, respectively). Conclusions: Male sex, age, and a prior history of ischemic stroke could increase the risk of OSR by multivariate logistic regression analysis, and CART analysis further demonstrated that patients with a younger age (≤ 57.5 years) and a prior history of ischemic stroke had the highest risk of OSR.

Download Full-text

Effect of frailty on treatment, hospitalisation and death in patients with chronic heart failure

Clinical Research in Cardiology ◽

10.1007/s00392-020-01792-w ◽

2021 ◽

Author(s):

S. Sze ◽

P. Pellicori ◽

J. Zhang ◽

J. Weston ◽

I. B. Squire ◽

...

Keyword(s):

Heart Failure ◽

Chronic Heart Failure ◽

Clinical Frailty Scale ◽

Mineralocorticoid Receptor Antagonist ◽

Reduced Ejection Fraction ◽

Frail Patients ◽

History Of ◽

Poor Outcomes ◽

To Receive

Abstract Background Frailty is common in patients with chronic heart failure (CHF) and is associated with poor outcomes. The natural history of frail patients with CHF is unknown. Methods Frailty was assessed using the clinical frailty scale (CFS) in 467 consecutive patients with CHF (67% male, median age 76 years, median NT-proBNP 1156 ng/L) attending a routine follow-up visit. Those with CFS > 4 were classified as frail. We investigated the relation between frailty and treatments, hospitalisation and death in patients with CHF. Results 206 patients (44%) were frail. Of 291 patients with HF with reduced ejection fraction (HeFREF), those who were frail (N = 117; 40%) were less likely to receive optimal treatment, with many not receiving a renin–angiotensin–aldosterone system inhibitor (frail: 25% vs. non-frail: 4%), a beta-blocker (16% vs. 8%) or a mineralocorticoid receptor antagonist (50% vs 41%). By 1 year, there were 56 deaths and 322 hospitalisations, of which 25 (45%) and 198 (61%), respectively, were due to non-cardiovascular (non-CV) causes. Most deaths (N = 46, 82%) and hospitalisations (N = 215, 67%) occurred in frail patients. Amongst frail patients, 43% of deaths and 64% of hospitalisations were for non-CV causes; 58% of cardiovascular (CV) deaths were due to advancing HF. Among non-frail patients, 50% of deaths and 57% of hospitalisations were for non-CV causes; all CV deaths were due to advancing HF. Conclusion Frailty in patients with HeFREF is associated with sub-optimal medical treatment. Frail patients are more likely to die or be admitted to hospital, but whether frail or not, many events are non-CV. Graphical abstract

Download Full-text

Nucleotide Variation at theCHALCONE ISOMERASELocus inArabidopsis thaliana

Genetics ◽

10.1093/genetics/155.2.863 ◽

2000 ◽

Vol 155 (2) ◽

pp. 863-872 ◽

Cited By ~ 14

Author(s):

Helmi Kuittinen ◽

Montserrat Aguadé

Keyword(s):

Nucleotide Diversity ◽

Direct Relationship ◽

Selective Sweep ◽

Balancing Selection ◽

Neutral Theory ◽

Low Frequency ◽

The Other ◽

Nucleotide Variation ◽

Rapid Population Growth ◽

History Of

AbstractAn ~1.9-kb region encompassing the CHI gene, which encodes chalcone isomerase, was sequenced in 24 worldwide ecotypes of Arabidopsis thaliana (L.) Heynh. and in 1 ecotype of A. lyrata ssp. petraea. There was no evidence for dimorphism at the CHI region. A minimum of three recombination events was inferred in the history of the sampled ecotypes of the highly selfing A. thaliana. The estimated nucleotide diversity (θTOTAL = 0.004, θSIL = 0.005) was on the lower part of the range of the corresponding estimates for other gene regions. The skewness of the frequency spectrum toward an excess of low-frequency polymorphisms, together with the bell-shaped distribution of pairwise nucleotide differences at CHI, suggests that A. thaliana has recently experienced a rapid population growth. Although this pattern could also be explained by a recent selective sweep at the studied region, results from the other studied loci and from an AFLP survey seem to support the expansion hypothesis. Comparison of silent polymorphism and divergence at the CHI region and at the Adh1 and ChiA revealed in some cases a significant deviation of the direct relationship predicted by the neutral theory, which would be compatible with balancing selection acting at the latter regions.

Download Full-text