scholarly journals Comprehensive Diagnostic Criteria for MELAS Syndrome; a Case Study Involving an Elderly Patient With MT-TWm.5541C>T Mutation

2021 ◽  
Author(s):  
Gang Wu ◽  
Yuguang Shen ◽  
Feng Zhu ◽  
Weiwei Tao ◽  
Yuanlin Zhou ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Recurrent Stroke ◽  
Clinical Manifestations ◽  
Occipital Lobe ◽  
Melas Syndrome ◽  
System Disease ◽  
Clinical Onset ◽  
History Of

Abstract Background: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a matrilineal hereditary multi-system disease due to mutations of mitochondrial DNA. Though the initial diagnostic criteria prevail till nowadays, which take a range of clinical phenotypes into consideration including clinical onset after the age of 40, a confirmative diagnostic standard for MELAS is still needed.Case presentation: A 71-year-old female patient presented with recurrent stroke to our hospital. Magnetic resonance imaging showed a cerebral gyrus-like area with hyperintensity in the parietal-occipital lobe on DWI and this area expanded with disease progression. The Lac/Lip peaks were significantly inverted in the MRS imaging. Nucleic acid sequencing showed a MT-TWm.5541C>T mutation, and the mutation rate of the blood sample was 12.86%. The patient had a 6-year history of type 2 diabetes. The patient experienced recurrent stroke and was given coenzyme Q10 capsules and idebenone tablets to improve metabolism, vitamin B to nourish nerves, edaravone to scavenge oxygen free radicals, and oxcarbazepine to manage seizures. At 1-month follow-up, her condition was stable.Conclusion: Patients with MELAS syndrome have complex clinical manifestations. Our data demonstrated that, for patients with atypical cerebral infarction and suspected MELAS syndrome, gene sequencing and muscle biopsy should be completed in time, which may serve as a reference for the diagnostic criteria of MELAS syndrome.

Abstract MP86: Effects of Immediate Blood Pressure Reduction on Death and Major Disability in Acute Ischemic Stroke Patients by History of Hypertension and Use of Antihypertensive Medications

Circulation ◽  
2015 ◽  
Vol 131 (suppl_1) ◽  
Author(s):  
Tan Xu ◽  
Yonghong Zhang ◽  
Yingxian Sun ◽  
Chung-Shiuan Chen ◽  
Jing Chen ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Treatment Group ◽  
Acute Ischemic Stroke ◽  
Hospital Discharge ◽  
Odds Ratio ◽  
Recurrent Stroke ◽  
Stroke Patients ◽  
Antihypertensive Medications ◽  
History Of

Introduction: The effects of blood pressure (BP) reduction on clinical outcomes among acute stroke patient remain uncertain. Hypothesis: We tested the effects of immediate BP reduction on death and major disability at 14 days or hospital discharge and 3-month follow-up in acute ischemic stroke patients with and without a previous history of hypertension or use of antihypertensive medications. Methods: The China Antihypertensive Trial in Acute Ischemic Stroke (CATIS) randomly assigned patients with ischemic stroke within 48 hours of onset and elevated systolic BP (SBP) to receive antihypertensive treatment (N=2,038) or to discontinue all antihypertensive medications (N=2,033) during hospitalization. Randomization was stratified by participating hospitals and use of antihypertensive medications. Study outcomes were assessed at 14 days or hospital discharge and 3-month post-treatment follow-up. The primary outcome was death and major disability (modified Rankin Scale score≥3), and secondary outcomes included recurrent stroke and vascular events. Results: Mean SBP was reduced 12.7% in the treatment group and 7.2% in the control group within 24 hours after randomization (P<0.001). Mean SBP was 137.3 mmHg in the treatment group and 146.5 in the control group at day 7 after randomization (P<0.001). At 14 days or hospital discharge, the primary and secondary outcomes were not significantly different between the treatment and control groups by subgroups. At the 3-month follow-up, recurrent stroke was significantly reduced in the antihypertensive treatment group among patients with a history of hypertension (odds ratio 0.43, 95% CI 0.24-0.75, P=0.003) and among patients with a history of use of antihypertensive medications (odds ratio 0.41, 95% CI 0.20-0.84, P=0.01). All-cause mortality (odds ratio 2.84, 95% CI 1.11-7.27, P=0.03) was increased among patients without a history of hypertension. Conclusion: Immediate BP reduction lowers recurrent stroke among acute ischemic stroke patients with a previous history of hypertension or use of antihypertensive medications at 3 months. On the other hand, BP reduction increases all-cause mortality among patients without a history of hypertension.

scholarly journals Immunoglobulin G4-related sclerosing cholangitis mimicking cholangiocarcinoma: a case report and literature review

2020 ◽  
Vol 48 (10) ◽  
pp. 030006052095921
Author(s):  
Cheng Xu ◽  
Yongmei Han
Keyword(s):  
Sclerosing Cholangitis ◽  
Plasma Cells ◽  
Elevated Serum ◽  
Clinical Manifestations ◽  
Immunoglobulin G4 ◽  
Igg4 Related Disease ◽  
Serum Igg4 ◽  
History Of ◽  
The Common

Immunoglobulin G4 (IgG4)-related disease (IgG4-RD) is a novel clinical disease that is characterized by elevated serum IgG4 concentrations and tumefaction or tissue infiltrated by IgG4+ plasma cells. The clinical manifestations of IgG4-RD depend on the type of tissues affected. IgG4-related sclerosing cholangitis is a type of IgG4-RD. We report a patient who initially visited a local hospital with a 5-month history of jaundice. He was found to have a mass in the upper part of the common bile duct that mimicked cholangiocarcinoma. He underwent surgery in our hospital and was later diagnosed with IgG4-related sclerosing cholangitis. We administered prednisolone 40 mg once a day for treatment. Taking into account the possible side effects of moderate-dose hormone therapy, we also administered teprenone, potassium chloride, and calcium carbonate. The patient did not have any recurrence of symptoms or adverse drug reactions during follow-up.

Refugee and Asylum-Seeking Children in Mae Sot and Bangkok: An Analysis of Unmet Needs and Risks

2020 ◽  
Author(s):  
Paradee Thoresen ◽  
Sue Gillieatt ◽  
Angela Fielding
Keyword(s):  
Health Care ◽  
Lived Experience ◽  
Unmet Needs ◽  
Psychological Development ◽  
Longitudinal Case Study ◽  
Children’S Perspectives ◽  
Rights Of The Child ◽  
History Of

Abstract This article reports on a longitudinal case study, which included site visits in Thailand from 2014 to 2015, and participant follow-up to mid-2018. It documents the lived experience of children from Syria, Sri Lanka, Pakistan, Vietnam, and Myanmar in two different locations in Thailand: Bangkok and Mae Sot (a district close to Thailand-Myanmar border with a long history of economic migrants and refugees from Myanmar). It documents perspectives of children and the adults in their lives while in exile. It presents an analysis of the children’s perspectives on needs and how unmet needs for safety, basic materials, health care, and education put them at risk of arrest, detention, abuse, and exploitation, and impact their psychological development. Contextual factors such as available services, existing policies and laws are also discussed in relation to the Convention on the Rights of the Child (CRC).

Symptomatic Intracranial Atherosclerosis: Natural History of Medical Management Beyond the Hyperacute Stage of Ischemic Stroke in the Post-SAMMPRIS Era

2018 ◽  
Vol 1 (1) ◽  
pp. 68-72
Author(s):  
Anand G. Vaishnav ◽  
Radhika A. Vaishnav
Keyword(s):  
Ischemic Stroke ◽  
Natural History ◽  
Recurrent Stroke ◽  
Imaging Techniques ◽  
Tertiary Care ◽  
Unfavorable Outcome ◽  
Stroke Recurrence ◽  
Atherosclerotic Stenosis ◽  
History Of

Background: A major cause of ischemic stroke (IS) worldwide, especially in Asia, is intracranial atherosclerotic stenosis (ICAS), which is also associated with the high risk of recurrent stroke. Objective: The aim of our study was to determine the natural history of symptomatic ICAS ischemic stroke (ICAS IS) patients. Materials and Methods: We collected data on acute ICAS IS patients beyond the hyperacute IS phase to determine stroke recurrence and mortality at a tertiary care neurology hospital. Data were collected on basic demographics and traditional risk factors such as hypertension, coronary artery disease, diabetes mellitus, tobacco abuse, and hyperlipidemia, and statistical analysis was done. The primary endpoint was to measure the unfavorable outcome as defined by recurrent stroke or death from any cause. Results: The mean follow-up time for the total 87 patients was 24.5 months. Nine patients (10.3%) had an unfavorable outcome in the follow-up period; 2 (2.3%) of them had recurrent IS. Age was a predictor of the unfavorable outcome ( P = .0025), whereas hyperlipidemia was present more in patients with the favorable outcome ( P = .033). There was a tendency for patients with poor outcomes to have a higher National Institutes of Health Stroke Scale at their onset of stroke. Conclusions: Aggressive medical treatment was associated with a relatively low risk of recurrent stroke in our ICAS IS population. This study provides groundwork for larger studies that can take into account clinical and newer imaging techniques to improve secondary prevention in ICAS IS patients.

scholarly journals Arterial thrombosis as primary presentation of endogenous Cushing’s syndrome

2019 ◽  
Vol 12 (2) ◽  
pp. bcr-2018-227491
Author(s):  
Vijay Alexander ◽  
Maria Koshy ◽  
Riddhi Dasgupta ◽  
Ronald Albert Carey
Keyword(s):  
Cushing’S Syndrome ◽  
Arterial Thrombosis ◽  
Clinical Manifestations ◽  
Dynamic Mri ◽  
Cushing's Syndrome ◽  
Positron Emission ◽  
History Of ◽  
Laboratory Investigations ◽  
Primary Presentation

Cushing’s syndrome is known to present with a characteristic set of clinical manifestations and complications, well described in literature. However, hypercoagulability remains an under recognised entity in Cushing’s syndrome. A 31-year-old woman from Southern India presented with history of fever, left upper quadrant pain and progressive breathing difficulty for 3 weeks. Clinical examination revealed discriminatory features of Cushing’s syndrome. Laboratory investigations showed biochemical features of endogenous ACTH-dependent Cushing’s syndrome. Imaging of the abdomen revealed splenic collection, left-sided empyema and extensive arterial thrombosis. Gadolinium enhanced dynamic MRI of the pituitary gland revealed no evidence of an adenoma while a Ga-68 DOTATATE positron emission tomography CT scan ruled out an ectopic Cushing’s. A diagnosis of endogenous Cushing’s syndrome causing a prothrombotic state with extensive arterial thrombosis was made. She was initiated on oral anticoagulation and oral ketoconazole for medical adrenal suppression. She subsequently underwent bilateral adrenalectomy and was well at follow-up.

Pediatric cerebellopontine angle and internal auditory canal tumors

2013 ◽  
Vol 12 (4) ◽  
pp. 317-324 ◽  
Author(s):  
Michelle A. Holman ◽  
William R. Schmitt ◽  
Matthew L. Carlson ◽  
Colin L. W. Driscoll ◽  
Charles W. Beatty ◽  
...  
Keyword(s):  
Family History ◽  
Diagnostic Criteria ◽  
Cerebellopontine Angle ◽  
Pediatric Patients ◽  
Pediatric Population ◽  
Internal Auditory Canal ◽  
Neurofibromatosis Type ◽  
History Of

Object The aim in this study was to describe the clinical presentation, differential diagnosis, and risk for neurofibromatosis Type 2 (NF2) in pediatric patients presenting with cerebellopontine angle (CPA) and internal auditory canal (IAC) tumors. Methods The authors conducted a retrospective study at a tertiary care academic referral center. All patients with an age ≤ 18 years who had presented with an extraaxial CPA or IAC tumor between 1987 and 2012 were included in the study cohort. Data regarding symptoms, diagnosis, tumor characteristics, and NF2 status were collected and analyzed. Results Sixty patients (55% female, 45% male) harboring 87 tumors were identified. The mean age at diagnosis was 12.8 years (median 14.0 years, range 0.9–18.9 years). Schwannomas were the most commonly identified lesions (57 of 87 tumors, including 52 vestibular, 3 facial, and 2 trigeminal schwannomas), followed by meningiomas (5 of 87) and epidermoid cysts (4 of 87). Six malignant tumors were diagnosed, including small-cell sarcoma, squamous cell carcinoma, malignant meningioma, atypical rhabdoid-teratoid tumor, endolymphatic sac tumor, and malignant ganglioglioma. Headache, followed by hearing loss and imbalance, was the most common presenting symptom, whereas dysphagia, otalgia, and facial pain were uncommon. Neurofibromatosis Type 2 was diagnosed in 20 (61%) of 33 patients with vestibular schwannoma (VS), while the other 13 patients (39%) had sporadic tumors. Nineteen of the 20 patients with NF2 met the diagnostic criteria for that disorder on initial presentation, and 15 of them presented with bilateral VS. At the last follow-up, 19 of the 20 patients subsequently diagnosed with NF2 demonstrated bilateral VSs, whereas 1 patient with a unilateral VS and multiple other NF2-associated tumors has yet to demonstrate a contralateral VS to date. Only 1 patient presenting with an isolated unilateral VS and no family history of NF2 demonstrated a contralateral VS on subsequent radiological screening. Conclusions Cerebellopontine angle and IAC tumors in the pediatric population are rare. There are several noteworthy differences between the adult and pediatric populations harboring these lesions. While VS is the most common pathology in both age groups, the lesion was found in only 60% of the pediatric patients in the present study. Unlike in adults, VSs in the pediatric population were associated with NF2 in over one-half of all cases. The majority of pediatric patients with NF2 fulfilled the diagnostic criteria at initial presentation; however, approximately 7% of patients presenting with a seemingly sporadic (no family history of NF2) unilateral VS will meet the criteria for NF2 later in life. Finally, malignancies account for a significantly higher percentage (10%) of cases among pediatric patients. These findings underscore the importance of early screening and close radiological follow-up and may be helpful in patient counseling.

scholarly journals Sheehan’s Syndrome Revisited: Underlying Autoimmunity or Hypoperfusion?

2018 ◽  
Vol 2018 ◽  
pp. 1-8 ◽  
Author(s):  
José Gerardo González-González ◽  
Omar David Borjas-Almaguer ◽  
Alejandro Salcido-Montenegro ◽  
René Rodríguez-Guajardo ◽  
Anasofia Elizondo-Plazas ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Diagnostic Criteria ◽  
Postpartum Hemorrhage ◽  
Hypovolemic Shock ◽  
Sheehan’S Syndrome ◽  
History Of ◽  
Sheehan's Syndrome ◽  
Pituitary Antibodies

Sheehan’s syndrome remains a frequent obstetric complication with an uncertain pathophysiology. We aimed to assess the incidence of hypopituitarism (≥2 hormonal axis impairment) within the first six postchildbirth months and to determine the existence of anti-pituitary antibodies. From 2015 to 2017, adult pregnant women, who developed moderate to severe postpartum hemorrhage (PPH), were consecutively included in the study. Pituitary function was assessed 4 and 24 weeks after PPH. At the end of the study, anti-pituitary antibodies were assessed. Twenty women completed the study. Mean age was 26.35 (±5.83) years. The main etiology for severe PPH was uterine atony (65%) which resulted mostly in hypovolemic shock grades III-IV. Within the first four weeks after delivery, 95% of patients had at least one hormonal pituitary affected and 60% of the patients fulfilled diagnostic criteria for hypopituitarism. At the end of the study period, five patients (25%) were diagnosed with hypopituitarism (GH and cortisol axes affected). Anti-pituitary antibodies were negative in all patients. At 6 months follow-up, one in every four women with a history of moderate-to-severe PPH was found with asymptomatic nonautoimmune-mediated hypopituitarism. The role of autoimmunity in Sheehan’s syndrome remains uncertain. Further studies are needed to improve the remaining knowledge gaps.

scholarly journals Prognosis of carotid dissecting aneurysms

Neurology ◽  
2017 ◽  
Vol 88 (7) ◽  
pp. 646-652 ◽  
Author(s):  
Susanna C. Larsson ◽  
Alice King ◽  
Jeremy Madigan ◽  
Christopher Levi ◽  
John W. Norris ◽  
...  
Keyword(s):  
Natural History ◽  
Stroke Risk ◽  
Recurrent Stroke ◽  
Anticoagulation Therapy ◽  
Artery Dissection ◽  
Cervical Artery Dissection ◽  
Cervical Artery ◽  
History Of ◽  
Age And Sex

Objective:To determine the natural history of dissecting aneurysm (DA) and whether DA is associated with an increased recurrent stroke risk and whether type of antithrombotic drugs (antiplatelets vs anticoagulants) modifies the persistence or development of DA.Methods:We included 264 patients with extracranial cervical artery dissection (CAD) from the Cervical Artery Dissection in Stroke Study (CADISS), a multicenter prospective study that compared antiplatelet with anticoagulation therapy. Logistic regression was used to estimate age- and sex-adjusted odds ratios. We conducted a systematic review of published studies assessing the natural history of DA and stroke risk in patients with non-surgically-treated extracranial CAD with DA.Results:In CADISS, DA was present in 24 of 264 patients at baseline. In 36 of 248 patients with follow-up neuroimaging at 3 months, 12 of the 24 baseline DAs persisted, and 24 new DA had developed. There was no association between treatment allocation (antiplatelets vs anticoagulants) and whether DA at baseline persisted at follow-up or whether new DA developed. During 12 months of follow-up, stroke occurred in 1 of 48 patients with DA and in 7 of 216 patients without DA (age- and sex-adjusted odds ratio 0.84; 95% confidence interval 0.10–7.31; p = 0.88). Published studies, mainly retrospective, showed a similarly low risk of stroke and no evidence of an increased stroke rate in patients with DA.Conclusions:The results of CADISS provide evidence suggesting that DAs may have benign prognosis and therefore medical treatment should be considered.

Reduction of Hemifacial Spasm and Dysarthria Following EMG Biofeedback

1984 ◽  
Vol 49 (1) ◽  
pp. 26-33 ◽  
Author(s):  
Rick T. Rubow ◽  
John C. Rosenbek ◽  
Michael J. Collins ◽  
Gastone G. Celesia
Keyword(s):  
Hemifacial Spasm ◽  
Relaxation Training ◽  
Speech Therapy ◽  
Emg Biofeedback ◽  
Feedback Training ◽  
Facial Spasm ◽  
History Of ◽  
Carry Over

In this case study, a geriatric patient who had an 18-year history of hemifacial spasm was given EMG-biofeedback-assisted relaxation training. No formal speech therapy was provided. Our results confirmed two hypotheses: (a) The patient would learn to reduce frontalis EMG and facial spasm with and then without biofeedback, and (b) as a result, speech would be markedly improved. At both the 1-month and 15-month follow-up the patient retained the ability to relax his facial muscles with similar carry-over to speech. Possible neurophysiologic mechanisms of action mediating the feedback training are discussed.

scholarly journals Essential syphilitic alopecia: Non-scarring alopecia in 21-year-old man

2021 ◽  
Vol 12 (e) ◽  
pp. 1-3
Author(s):  
Hafssa Chehab ◽  
Bertrand Richert
Keyword(s):  
Hair Loss ◽  
Previous History ◽  
Treponema Pallidum ◽  
Clinical Manifestations ◽  
Skin Lesions ◽  
Secondary Syphilis ◽  
Laboratory Evaluation ◽  
History Of ◽  
High Level

ABSTRACT Alopecia syphilitica is a less common clinical manifestations of secondary syphilis. It is uncommon for hair loss to be the sole or predominant manifestation, as hair loss is the chief clinical and histologic differential diagnosis of. The main difference between alopecia areata and Alopecia syphilitica is the detection of Treponema pallidum in syphilis. We present the case of a 21- year-old belgium man with different patches of non-cicatricial alopecia of his scalp. The patient denied previous history of genital or other skin lesions. Laboratory evaluation was positive for syphilis. The diagnosis of alopecia syphilitica was made and he was treated with single intramuscular injections of benzathine penicillin. The lesions improved with treatment in all the patients who attended follow-up. Dermatologists should maintain a high level of clinical suspicion for this uncommon manifestation of syphilis, particularly when it is the only symptom.

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