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Biomedical subjects

S Meenakshi-Sundaram

Publications and source records attributed to S Meenakshi-Sundaram.

5 recordsLinked to original sources

Recurrent venous thrombosis with factor V Leiden mutation.

A patient who presented with recurrent venous thrombosis is reported. Following an episode of spontaneous deep vein thrombosis of the lower limb he was started on oral anticoagulant therapy, which he discontinued. He presented with cerebral venous thrombosis and improved partially with anticoagulant therapy. Evaluation for hypercoagulable states revealed factor V Leiden mutation by polymerized chain reaction method. Long-term anticoagulation has been planned. Evaluation for factor V Leiden mutation is always warranted in patients presenting with spontaneous thrombosis, especially if there is recurrent thrombosis.

Adult↗

Cognitive dysfunction in cholesterol embolic disease.

A patient who developed neurological and renal complications following coronary angiogram and coronary artery bypass grafting is reported. Neurological involvement was in the form of fluctuating sensorium and a subcortical pattern of dementia. Renal failure was seen in the form of raised urea and creatinine levels. Renal biopsy revealed the cause of the renal failure to be due to cholesterol embolic disease. While the sensorium often improved following renal replacement therapy (dialysis), the dementia was poorly responsive to therapy. The patient succumbed due to progressive renal failure. Awareness of the protean manifestations and a high index of suspicion are essential for appropriate diagnosis in order to enable the clinician to accurately prognosticate in this often fatal disease.

Basal Ganglia↗

Neuroacanthocytosis misdiagnosed as Huntington's disease: a case report.

A patient with the typical features of neuroacanthocytosis is reported. Chorea, tics, personality changes and caudate atrophy on cranial MRI resulted in an erroneous diagnosis of Huntington's disease elsewhere. Attention to other features viz., absence of ocular motility disturbances, amyotrophy, areflexia, EMG evidence of axonopathy, raised serum creatinine phosphokinase (CPK) levels and the typical erythrocytic acanthocytosis enabled us to establish the correct diagnosis. The typical features of the disease as seen in the patient are discussed. In view of the implications for genetic counseling, careful clinical and laboratory evaluation is always warranted to exclude neuroacanthocytosis in all suspected cases of Huntington's disease.

Adult↗

Cardiac involvement in Wilson's disease--an electrocardiographic observation.

BACKGROUND: Wilson's disease is known for its protean manifestations; however electrocardiographic abnormalities have not received much attention. AIM: To evaluate the various electrocardiographic (ECG) changes in patients with Wilson's disease. METHOD: The resting ECGs of 50 patients with Wilson's disease were systematically analyzed independently by three observers after excluding other causes that could induce ECG abnormalities. RESULT: Fifteen patients had at least one abnormality in the ECG. Sinus tachycardia was seen in eight and sinus bradycardia in six. Other abnormalities included: bifid P wave (1), ST elevation (2), ST depression (2), T inversion (4), ventricular premature contraction - VPC (1) and prominent U waves (1). QRS axis, PR interval, QRS complex, R/S amplitude ratio and QT interval were normal in all. Ventricular premature beats were not recorded in any. None had features of ventricular hypertrophy. There was no statistically significant difference in ECG abnormalities with reference to age, gender, duration of illness or treatment, serum copper or ceruloplasmin, and severity of neurological impairment. CONCLUSION: ECG abnormalities are not uncommon in Wilson's disease and are presumably related to an underlying cardiomyopathy due to deposition of copper in heart.

Adolescent↗

Marinacci communication: an electrophysiological study.

OBJECTIVE: Prevalence of Martin-Gruber anastomosis, an anomalous median-to-ulnar forearm communication, is well reported in literature while Marinacci communication, the reverse of Martin-Gruber with a forearm ulnar-to-median communication is under-recognized. We systematically evaluated the presence of Marinacci communication in a series of patients referred for electrophysiological studies. METHODS: One hundred consecutive patients referred to the electrophysiological laboratory for various diagnoses were studied using standard techniques for motor, sensory and f wave studies. RESULTS: Of the 100 patients (200 arms) studied, electrophysiological features of Marinacci communication were observed in 4 patients (7 arms). Median stimulation with recording over abductor pollicis brevis (APB) revealed a pseudo-conduction block over the forearm segment while on ulnar stimulation and recording over abductor digiti minimi (ADM), the amplitude of the compound muscle action potential (CMAP) obtained on proximal stimulation was higher than that obtained on distal stimulation. Ulnar stimulation at the elbow but not at the wrist revealed CMAP from APB without initial positivity. Its amplitude was 50% of the amplitude obtained on median stimulation at the wrist. CONCLUSIONS: Marinacci communication is not uncommon in the general population. A pseudo-conduction block on median stimulation and higher CMAP amplitude on proximal than distal stimulation provide valuable clues to its recognition.

Action Potentials↗