scholarly journals Clinical and Imaging Profile of Patients with Joubert Syndrome

2021 ◽  
Vol 14 (3) ◽  
pp. 231-235
Author(s):  
Bharath Kumar Surisetti ◽  
Vikram Venkappayya Holla ◽  
Shweta Prasad ◽  
Koti Neeraja ◽  
Nitish Kamble ◽  
...  
Keyword(s):  
Chart Review ◽  
Diffusion Tensor ◽  
Retrospective Chart Review ◽  
Joubert Syndrome ◽  
Facial Dysmorphism ◽  
Ocular Abnormalities ◽  
Radiological Features ◽  
Novel Variants ◽  
Cerebellar Peduncles ◽  
Skew Deviation

Objective Joubert syndrome (JS) is a rare syndrome characterized by ataxia and the molar tooth sign (MTS) on imaging. The present study aims to explore the clinical and radiological features in a cohort of patients with JS.Methods This was a retrospective chart review of patients with JS evaluated by movement disorder specialists.Results Nine patients were included in the study. All patients had facial dysmorphism and ocular abnormalities, and 4 patients had dystonia. Ocular tilt reaction and alternate skew deviation (66%) were the most common ocular abnormalities. Horizontally aligned superior cerebellar peduncles were observed in all four patients with diffusion tensor imaging, with a lack of decussation in three. Exome sequencing performed in four patients revealed novel variants in the MKS1, CPLANE1, and PIBF1 genes.Conclusion Facial dysmorphism, ocular abnormalities and classical imaging findings were observed in all patients with JS. Apart from ataxia, dystonia and myoclonus are other movement disorders observed in JS.

scholarly journals Neonatal presentation of Joubert syndrome

2020 ◽  
Vol 7 (2) ◽  
pp. 458
Author(s):  
Rahul Choudhary ◽  
Garima Sachdeva ◽  
Gaurav Katoch ◽  
Sanjeev Choudhary
Keyword(s):  
Genetic Disorder ◽  
Brain Mri ◽  
Joubert Syndrome ◽  
Facial Dysmorphism ◽  
Newborn Girl ◽  
Cerebellar Peduncles ◽  
Magnetic Resonance Imaging Mri ◽  
Vermian Hypoplasia ◽  
Bat Wing ◽  
Variable Presentation

Joubert syndrome is a rare genetic disorder with autosomal recessive or rarely X-linked recessive inheritance. Authors are reporting a case of a newborn girl with Joubert syndrome who presented with respiratory distress, hypotonia, hyporeflexia, abnormal eye movements, and facial dysmorphism. Brain MRI revealed vermian hypoplasia, “molar tooth sign” with “bat wing appearance” of the fourth ventricle, deepened interpeduncular fossa, and elongated superior cerebellar peduncles. The clinical diagnosis of this syndrome is difficult due to its variable presentation and non-specific presentation. Magnetic Resonance Imaging (MRI) has an important role in the diagnosis of Joubert syndrome. This not only helps in early diagnosis but also helps in appropriate counseling and proper rehabilitation of the baby.

Congenital Myasthenic Syndrome From a Single Center: Phenotypic and Genotypic features

2021 ◽  
pp. 088307382098775
Author(s):  
Devin E. Prior ◽  
Partha S. Ghosh
Keyword(s):  
Genetic Variants ◽  
Chart Review ◽  
Genetic Disorders ◽  
Retrospective Chart Review ◽  
Congenital Myasthenic Syndrome ◽  
Significant Delay ◽  
Prompt Treatment ◽  
Novel Variants ◽  
Myasthenic Syndrome

Background: Congenital myasthenic syndrome is a group of rare genetic disorders affecting transmission across the neuromuscular junction. Patients present with variable ocular, bulbar, respiratory, and extremity weakness that may respond to symptomatic therapies. Methods: We identified 18 patients with congenital myasthenic syndrome from a pediatric neuromuscular center over a decade. Through a retrospective chart review, we characterize demographic profile, clinical features, genetic variants, treatment, and follow-up of these patients. Results: Patients had the following genetic subtypes: CHRNE (6), CHAT (2), MUSK (2), DOK7 (2), COLQ (1), RAPSN (1), PREPL (1), GFPT1 (1), CHRBB1 (1), and CHRNA1 (1). The phenotype varied based on the genetic variants, though most patients have generalized fatigable weakness affecting ocular, bulbar, and extremity muscles. There was a significant delay in the diagnosis of this condition from the onset of symptoms. Although most patients improved with pyridostigmine, some subtypes showed worsening with pyridostigmine and others benefited from albuterol, ephedrine, or 3,4-diaminopyridine treatment. Conclusion: Increasing recognition of this rare syndrome will lead to early diagnosis and prompt treatment. Prompt utilization of genetic testing will identify novel variants and the expanding phenotype of this condition.

Clinical Analysis of 60 Patients with Hepatocellular Cancer Treated in Korean Medicine Hospital; A Retrospective Chart Review

2020 ◽  
Vol 41 (3) ◽  
pp. 447-456
Author(s):  
Mi-jung Yoon ◽  
Na-kyung Cho ◽  
Hong-sic Choi ◽  
Seung-mo Kim ◽  
Sang-chan Kim ◽  
...  
Keyword(s):  
Chart Review ◽  
Hepatocellular Cancer ◽  
Retrospective Chart Review ◽  
Clinical Analysis ◽  
Korean Medicine

Physical Medicine Rehabilitation Consults and 30 Day Readmissions: A Retrospective Chart Review

2014 ◽  
Vol 95 (10) ◽  
pp. e93-e94
Author(s):  
Aziza Azadali Kamani ◽  
Earl L. Smith ◽  
Jeffrey Fine ◽  
Lawrence M. Reich
Keyword(s):  
Chart Review ◽  
Retrospective Chart Review ◽  
Physical Medicine

scholarly journals Cardiovascular Health in Individuals with Exceptional Longevity Residing in Arkansas

2021 ◽  
Vol 7 ◽  
pp. 233372142110189
Author(s):  
Brandi M. Mize ◽  
Brandon Duke ◽  
Amanda K. Pangle ◽  
Jeanne Y. Wei ◽  
Gohar Azhar
Keyword(s):  
Heart Failure ◽  
Chart Review ◽  
Cardiovascular Health ◽  
Ldl Cholesterol ◽  
Retrospective Chart Review ◽  
Hdl Cholesterol ◽  
Study Cohort ◽  
Old Patients ◽  
Genetic Components ◽  
Blood Pressures

Cardiovascular disease is a common comorbidity associated with an aging population. However, there is a unique group of individuals whose age-defying qualities are still being investigated. This retrospective chart review analyzed various cardiac and metabolic health parameters to characterize the prevalence of heart failure and metabolic derangements in individuals aged 90 years old or older in central Arkansas. Only 236 of the 291 patients in our study cohort had blood pressures recorded. Of these, 50% had systolic blood pressures ≥140 mmHg. Additionally, 77% had pulse pressures ≥50 mmHg. Of the 96 patients with BNP data, 44% had values ≥300 pg/mL. There was a slight positive correlation between aging and HDL cholesterol, while there was a negative correlation between aging and both total cholesterol and LDL cholesterol. A majority of our patients had both elevated systolic blood pressures and elevated pulse pressures. A majority also had high BNP values, indicative of some degree of heart failure. Additionally, atrial fibrillation was a common arrhythmia identified on EKG. However, these oldest of the old patients had fewer documented metabolic derangements. These findings lay important groundwork for further investigation into lifestyle and genetic components that allow them to live exceptionally long with such comorbidities.

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