Movement disorders in patients with alternating hemiplegia

ObjectiveTo assess nonparoxysmal movement disorders in ATP1A3 mutation-positive patients with alternating hemiplegia of childhood (AHC).MethodsTwenty-eight patients underwent neurologic examination with particular focus on movement phenomenology by a specialist in movement disorders. Video recordings were reviewed by another movement disorders specialist and data were correlated with patients' characteristics.ResultsTen patients were diagnosed with chorea, 16 with dystonia (nonparoxysmal), 4 with myoclonus, and 2 with ataxia. Nine patients had more than one movement disorder and 8 patients had none. The degree of movement disorder was moderate to severe in 12/28 patients. At inclusion, dystonic patients (n = 16) were older (p = 0.007) than nondystonic patients. Moreover, patients (n = 18) with dystonia or chorea, or both, had earlier disease onset (p = 0.042) and more severe neurologic impairment (p = 0.012), but this did not correlate with genotype. All patients presented with hypotonia, which was characterized as moderate or severe in 16/28. Patients with dystonia or chorea (n = 18) had more pronounced hypotonia (p = 0.011). Bradykinesia (n = 16) was associated with an early age at assessment (p < 0.01). Significant dysarthria was diagnosed in 11/25 cases. A history of acute neurologic deterioration and further regression of motor function, typically after a stressful event, was reported in 7 patients.ConclusionsDespite the relatively limited number of patients and the cross-sectional nature of the study, this detailed categorization of movement disorders in patients with AHC offers valuable insight into their precise characterization. Further longitudinal studies on this topic are needed.

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COVID-19: An Experience from a Tertiary Care Hospital of Nowshera

Journal of Rawalpindi Medical College ◽

10.37939/jrmc.v24i2.1376 ◽

2020 ◽

Vol 24 (2) ◽

pp. 149-155

Author(s):

Hamzullah Khan ◽

Mohammad Zahid Khan ◽

Mian Mohammad Naveed

Keyword(s):

Tertiary Care ◽

Relevant Information ◽

Cross Sectional Study ◽

Care Hospital ◽

Cross Sectional ◽

Number Of Patients ◽

Epidemic Area ◽

History Of ◽

Severity Of The Disease ◽

Age Range

Objective: To determine the frequency of COVID-19 and characteristics of patients presenting to the COVID-19 clinic at Qazi Hussain Ahmed Medical Complex (QHAMC) Nowshera. Methodology: This cross-sectional study was conducted from 21st Feb 2019 to April 8, 2020, in QHAMC Nowshera. Relevant information was collected on a pre-designed Performa prepared following the objectives of the study. Results: Out of 220 patients, 165(75%) were males, and 55(25%) females. 96(43.6%) of the patients were in the age range 18-30 years followed by 52(23.6%) in age range 31-45years and 17(7.7%) with age>60 years etc. Out of total the nasopharyngeal swabs of 26(11.6%) strong suspects were sent for PCR testing. 208(94.5%) were sent home while 12(5.5%) were advised quarantine. Forty-seven (21.4%) had a travel history to an epidemic area in the last 14 days. 51(23.2%) had a positive history of contact. Eighty-five (38.6%) had a fever and sore throat followed by 27(12.3%) with (fever & cough), 24(10.9%) with (cough and shortness of breath/dyspnea) and 14(6.4%) with a simple flue, etc. Out of 26 cases, 6(2.7%) were COVID-19 Positive, 12(5.5%) were negative and results of 8(3.6%) were still awaited. The PCR repeated the test for confirmed cases showed; 4(1.8%) negative, one died and one was refractory positive. A positive correlation (p=0.03, r=0.4) of an increase in age with the severity of the disease/outcome was recorded. Conclusion: The frequency of infectivity with COVID-19 was 2.6%. A higher number of patients with mild symptoms attend the COVID clinic. The rate of infection and mortality was higher in age> 60 years.

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Clinical Study of Bell's Palsy at Tertiary Care: Our Experience

Annals of Otology and Neurotology ◽

10.1055/s-0039-1693096 ◽

2019 ◽

Vol 02 (01) ◽

pp. 16-20

Author(s):

M. B. Bharathi ◽

Thanzeem Unisa ◽

Swathi Chandresh ◽

Venkatesh C. R. ◽

Harsha S.

Keyword(s):

Facial Nerve ◽

Tertiary Care ◽

Bell’S Palsy ◽

Cross Sectional Study ◽

Bell's Palsy ◽

Cross Sectional ◽

Tertiary Referral Center ◽

Number Of Patients ◽

The Face ◽

History Of

Abstract Introduction Bell's palsy (BP) is the common cause of facial palsy. This study aims to report and analyze the age, sex distribution, symptomatology, site of lesion, and prognosis in 101 patients with (BP). Materials and Methods This is a cross-sectional study conducted at tertiary referral center, JSS Hospital, Mysuru. All patients consenting to participate in this study, of all ages, of either sex, both outpatients and inpatients with a diagnosis of BP during this study period were included. Results Of the 101 patients analyzed, maximum cases (25.7%) were in third decade of age; 55.4% were males, and both right and left sides of the face were equally involved. Maximum number of patients (50.5%) had a history of postaural pain at presentation Topodiagnostic tests showed majority of BP cases involving geniculate or suprageniculate regions (67.3%) in our study. 20.8% had lesion above the nerve to stapedius, and 11.9% had lesion below the nerve to stapedius. Electrodiagnostic test—electroneuromyography (ENMG)—was abnormal in 57 (67.1%) individuals at day 4. 50.4% of patients had a House-Brackmann (HB) facial nerve grade IV at presentation. 90% of the BP group in our study recovered normal to near-normal facial nerve function by the end of 28 days’ time. Conclusion Each case of BP should be evaluated with thorough clinical examination, topodiagnostic tests, and electrodiagnostic tests. Appropriate management will help in almost full recovery of disease.

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Predictors of persistent inflammation in familial Mediterranean fever and association with damage

Rheumatology ◽

10.1093/rheumatology/keaa378 ◽

2020 ◽

Vol 60 (1) ◽

pp. 333-339

Author(s):

Hakan Babaoglu ◽

Berkan Armagan ◽

Erdal Bodakci ◽

Hasan Satis ◽

Nuh Atas ◽

...

Keyword(s):

Disease Onset ◽

Damage Index ◽

Treatment Strategies ◽

Leg Pain ◽

Cross Sectional ◽

Persistent Inflammation ◽

Increased Risk ◽

Education Levels ◽

History Of ◽

Mediterranean Fever

Abstract Objective Persistent inflammation is an insidious and less studied feature of FMF. We investigated clinical determinants of persistent inflammation and its associations with individual damage items. Methods This is a cross-sectional analysis of 917 FMF patients, who fulfilled the Tel Hashomer criteria and had at least 6 months’ follow-up. Patients were stratified based on whether they had persistent inflammation. We used logistic regression analysis to investigate independent predictors of persistent inflammation and the associated individual damage items. Results One hundred and forty-two (15%) patients had persistent inflammation. Active FMF (54%) was the most prominent reason for the persistent inflammation. Spondylarthritis (16%), other inflammatory arthritis (8%) and IBD (2%) were other frequent reasons. Male gender, history of exertional leg pain, inflammatory comorbidities, M694V homozygosity, colchicine resistance, lower education levels and musculoskeletal attack dominance were found to be the independent predictors of persistent inflammation. Earlier disease onset led to a tendency towards persistent inflammation. Patients with persistent inflammation were more likely to suffer damage. There is an increased risk of developing proteinuria, amyloidosis and renal insufficiency. Conclusion We identified, for the first time, the predictors of persistent inflammation in adult FMF patients and related individual damage items of the Autoinflammatory Disease Damage Index. Persistent inflammation is insidious and one of the chief causes of damage; therefore, especially patients with these predictors should be followed up more closely. If detected, underlying inflammatory comorbidities should be assessed meticulously as early detection and proper treatment strategies may favourably impact the natural history of the disease.

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Irving S. Cooper and the early surgical management of movement disorders

Neurosurgical FOCUS ◽

10.3171/foc.2001.11.2.7 ◽

2001 ◽

Vol 11 (2) ◽

pp. 1-5 ◽

Cited By ~ 12

Author(s):

Mark Hornyak ◽

Richard L. Rovit ◽

Arlene Stolper Simon ◽

William T. Couldwell

Keyword(s):

New York ◽

Surgical Management ◽

Movement Disorders ◽

York Medical College ◽

Functional Neurosurgery ◽

Medical College ◽

Video Recordings ◽

History Of ◽

Anterior Choroidal ◽

Choroidal Artery

Irving S. Cooper was a pioneer in the field of functional neurosurgery. During his very productive and controversial career, he proposed the surgical treatment of Parkinson disease (PD) by ligating the anterior choroidal artery to control tremor and rigidity. Subsequently, he developed seminal techniques for chemopallidectomy and cryothalamectomy for PD. He also attempted to use electrical stimulation of the cerebellum or the thalamus to treat spasticity. Cooper continued his work on brain stimulation until his death in 1985. He made video recordings of nearly all of his patients during his tenure (1977–1985) at New York Medical College. Cooper's clinical video recordings were reviewed, and selected footage was compiled into a video history of Cooper's surgical management of various movement disorders. Included are pre-, post-, and some intraoperative recordings that Cooper made to document his treatment of patients with PD, tremor, Wilson disease, cerebral palsy, chorea, dystonia musculorum deformans, and some rarer entities.

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Pathogenic NOTCH3 Variants Are Frequent Among the Korean General Population

Neurology Genetics ◽

10.1212/nxg.0000000000000639 ◽

2021 ◽

Vol 7 (6) ◽

pp. e639

Author(s):

Chul-Hoo Kang ◽

Young Mee Kim ◽

Yang-Ji Kim ◽

Su-Jeong Hong ◽

Do Yoon Kim ◽

...

Keyword(s):

Cross Sectional Study ◽

Genome Project ◽

Jeju Island ◽

Cross Sectional ◽

Genome Database ◽

Pathogenic Variants ◽

Number Of Patients ◽

High Prevalence ◽

History Of ◽

Reference Genome Database

ObjectiveThis study aimed to determine the frequency of pathogenic NOTCH3 variants among Koreans.MethodsIn this cross-sectional study, we queried for pathogenic NOTCH3 variants in 2 Korean public genome databases: the Korean Reference Genome Database (KRGDB) and the Korean Genome Project (Korea1K). In addition, we screened the 3 most common pathogenic NOTCH3 variants (p.Arg75Pro, p.Arg544Cys, and p.Arg578Cys) for 1,000 individuals on Jeju Island, where the largest number of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) have been reported in Korea.ResultsThe pathogenic NOTCH3 variant (p.Arg544Cys) was found in 0.12% of sequences in the KRGDB, and 3 pathogenic variants (p.Arg75Pro, p.Arg182Cys, and p.Arg544Cys) were present in 0.44% of the Korea1K database. Of the 1,000 individuals on Jeju Island, we found 2 cysteine-altering NOTCH3 variants (p.Arg544Cys variant in 9 and p.Arg578Cys in 1 individual) in 1.00% of the participants (95% confidence interval: 0.48%–1.83%). The presence of cysteine-altering NOTCH3 variants was significantly associated with a history of stroke (p < 0.001).DiscussionPathogenic NOTCH3 variants are frequently found in the general Korean population. Such a high prevalence of pathogenic variants could threaten the brain health of tens of thousands to hundreds of thousands of older adults in Korea.

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The added value of parenchymal transcranial Doppler sonography at the Emergency Room: case report of an unusual gait disorder

10.21203/rs.2.17907/v1 ◽

2019 ◽

Author(s):

Massimiliano Godani ◽

Giuseppe Lanza ◽

Rita Bella ◽

Lucia Trevisan ◽

Raffaele Ferri

Keyword(s):

Emergency Room ◽

Movement Disorder ◽

Neurological Examination ◽

Movement Disorders ◽

Transcranial Doppler ◽

Doppler Sonography ◽

Transcranial Doppler Sonography ◽

Gait Disorder ◽

Wide Range ◽

History Of

Abstract Background: the growing application of parenchymal transcranial Doppler sonography (pTCS) helps the diagnosis of a wide range of neurological diseases, especially movement disorders. Here, we report a patient with an unusual gait disorder in whom pTCS performed at the Emergency Room rapidly provided diagnostic clues towards a degenerative movement disorder. Case presentation: A 60-year old man presented at the Emergency Room with a rapidly progressive history of walking difficulty, without falls. He had no family history of neurodegenerative or psychiatric diseases. Because of a depressive disorder arisen one year earlier, he was under oral treatment with escitalopram 10 mg and amisulpride 100 mg daily. Neurological examination showed a gait characterized by ataxia, rigidity, and limping; he also had mild oro-facial and hands dyskinesia, some of which were also present during walking. Brain computed tomography was normal. A pTCS performed at the Emergency Room showed hyperechogenicity of the substantia nigra and the caudate nucleus, bilaterally. This pattern is suggestive of Huntington’s disease (HD), as confirmed by the molecular genetic test carried out later. Other laboratory tests, standard electroencephalogram, and 1.5-T brain MRI were normal.Conclusions: to date, this is the first report of HD sonographically detected at the Emergency Room. This supports the view that pTCS can be easily implemented in the diagnostic algorithm and differential diagnosis of movement disorders even in an urgency setting. Notably, conventional MRI did not detect, at this stage, any abnormality; this further highlights the diagnostic utility of pTCS, which also allowed to exclude a drug-induced effect or a different movement disorder. In clinically suspected cases, pTCS can extend the neurological examination by providing diagnostic clues more rapidly and less expensively than neuroimaging.

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The added value of parenchymal transcranial Doppler sonography at the Emergency Room: case report of an unusual gait disorder

10.21203/rs.2.17907/v2 ◽

2019 ◽

Author(s):

Massimiliano Godani ◽

Giuseppe Lanza ◽

Rita Bella ◽

Lucia Trevisan ◽

Raffaele Ferri

Keyword(s):

Emergency Room ◽

Movement Disorder ◽

Neurological Examination ◽

Movement Disorders ◽

Transcranial Doppler ◽

Doppler Sonography ◽

Transcranial Doppler Sonography ◽

Gait Disorder ◽

Wide Range ◽

History Of

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Clinical analysis of cardiac failure in post-myocardial infarction patients

International Journal of Advances in Medicine ◽

10.18203/2349-3933.ijam20182074 ◽

2018 ◽

Vol 5 (3) ◽

pp. 587

Author(s):

R. Jaya Prakash Reddy ◽

P. Vijaya Narasimha Reddy

Keyword(s):

Myocardial Infarction ◽

Cardiac Failure ◽

Clinical Analysis ◽

Cross Sectional Study ◽

Anterior Wall ◽

Prior History ◽

Medical Sciences ◽

Cross Sectional ◽

Number Of Patients ◽

History Of

Background: Cardiac failure is one of the common complications of Acute Myocardial Infarction. As CAD is the leading cause of death and post MI Cardiac failure also causing increase in rate of Mortality. It directs us to assess the complications of MI and to evaluate the precautionary & preventive steps of cardiac failure.Methods: The present study comprises of 50 cardiac failure patients with history of MI in the past and who presented with myocardial infarction with cardiac failure were included in this study. We excluded the patients who presented with Cardiac failure without Prior history of MI. This hospital based cross sectional study was conducted at Rajiv Gandhi Institute of Medical Sciences (RIMS), Ongole, Prakasam District, Andhra Pradesh. The study was carried out for a period of 1 year with informed consent.Results: In present study majority number of patients (33) show hypokinesia and 10 are found to have dyskinesia and only 4 are akinesia. In this study More than 50% patients are with history of anterior wall involvement. 36(72%) patients have elevated JVP, 34(68%) have cardiomegaly, 38 patients presented with PND. 29(58%) patients are DM and 35(70%) are HTN and only 6(12%) patients are neither DM, nor HTN.Conclusions: Cardiac failure is a common complication after MI. Most common presentations are breathlessness, chest pain, PND, JVP etc. Anterior wall MI on ECG either isolated or associated with other walls is the leading cause of post MI cardiac failure.

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Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies

Genetics in Medicine ◽

10.1038/s41436-020-01001-z ◽

2020 ◽

Author(s):

Julian Schröter ◽

Jan H. Döring ◽

Sven F. Garbade ◽

Georg F. Hoffmann ◽

Stefan Kölker ◽

...

Keyword(s):

Natural History ◽

Disease Onset ◽

Diagnostic Delay ◽

Family Counseling ◽

Cross Sectional ◽

Clinical Endpoints ◽

Therapeutic Trials ◽

Disease Characteristics ◽

Brain Malformations ◽

History Of

Abstract Purpose TUBA1A and TUBB2B tubulinopathies are rare neurodevelopmental disorders characterized by cortical and extracortical malformations and heterogenic phenotypes. There is a need for quantitative clinical endpoints that will be beneficial for future diagnostic and therapeutic trials. Methods Quantitative natural history modeling of individuals with TUBA1A and TUBB2B tubulinopathies from clinical reports and database entries of DECIPHER and ClinVar. Main outcome measures were age at disease onset, survival, and diagnostic delay. Phenotypical, neuroradiological, and histopathological features were descriptively illustrated. Results Mean age at disease onset was 4 (TUBA1A) and 6 months (TUBB2B), respectively. Mortality was equally estimated with 7% at 3.2 (TUBA1A) and 8.0 years (TUBB2B). Diagnostic delay was significantly higher in TUBB2B (12.3 years) compared with TUBA1A tubulinopathy (4.2 years). We delineated the isotype-dependent clinical, neuroradiological, and histopathological phenotype of affected individuals and present brain malformations associated with epilepsy and an unfavorable course of disease. Conclusion The natural history of tubulinopathies is defined by the genotype and associated brain malformations. Defined data on estimated survival, diagnostic delay, and disease characteristics of TUBA1A and TUBB2B tubulinopathy will help to raise disease awareness and encourage future clinical trials to optimize genetic testing, family counseling, and supportive care.

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Hand dermatitis among patients visited the Dermatology Clinic of Al-Sadder Teaching Hospital,MisanProvince

Al-Mustansiriyah Journal of Science ◽

10.23851/mjs.v29i1.231 ◽

2018 ◽

Vol 29 (1) ◽

pp. 44

Author(s):

Hmood Hassan

Keyword(s):

Positive Family History ◽

Cross Sectional Study ◽

Hand Eczema ◽

The Body ◽

Cross Sectional ◽

Hand Dermatitis ◽

Dermatology Clinic ◽

Number Of Patients ◽

Wide Range ◽

History Of

Abstract Hand dermatitis is a common dermatosis which a polymorphic inflammatory reaction pattern that involving the skin layers (epidermis and dermis). There are a lot of factors that causing hand dermatitis with clinically wide range of manifestations. Females is at increasing risk of the hand dermatitis development.. The study aim is to determine the prevalence and the important common factors that affect the hand dermatitis Patients and methods: A cross- sectional study including a total number of patients with generalized eczema in the body were 840.The number of the patients had hand eczema were 240. study was carried out during the period from 1st of January 2016 to 1st of November 2016. Results: In our study there were certain risk factors affected the patients presented with hand dermatitis were identified.. The results in study showed that(17.5%) had positive family history of hand dermatitis, (30%) had positive history of atopy and negative drug history had(77.5%). Patients with bilateral hands involvement (82.5% ) and the highest percentage in female at or older than 40years old(35.48% ).The highest percentage was among males in the (30-39 and above 40 years) age group with 44.44% for each group. Hand dermatitis more common in house wife then in building worker and nurse with married females have higher percentage 74% than non marriedones 26%. Conclusion : Hand dermatitis prevalence was higher in female patients at age of 20 to 29 years with one third of them had history of atopy, especially in house wives with excessive exposure to daily cleaning topical chemicals.

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