Shekhar G. Patil

Bio: Shekhar G. Patil is an academic researcher from Grant Medical College and Sir Jamshedjee Jeejeebhoy Group of Hospitals. The author has contributed to research in topics: Subacute sclerosing panencephalitis & Myoclonus. The author has an hindex of 3, co-authored 3 publications receiving 30 citations.

A study of SSPE: early clinical features

Abstract: Thirty two patients with subacute sclerosing panencephalitis (SSPE) admitted under the care of Department of Neurology at JJ Hospital and Grant Medical College, Mumbai during the period 1998-2003 were analyzed. All patients were evaluated clinically, with relevant investigations and neuroimaging wherever possible. Particular attention was given to early clinical features. Diagnosis was confirmed by cerebrospinal fluid study for measles antibody and by electroencephalography. The mean age of our patients was 13.4 years and the vaccinated patients tended to be older. Nine patients had received measles vaccination. Twelve percent of patients were older than the age of 20 years at the onset of symptoms. Approximately 40.6% of patients presented with symptoms of loss of vision, seizures and behavioral change. At this stage myoclonus and cognitive decline were conspicuous by their absence. Eventually typical features like myoclonus and cognitive decline evolved after a mean period of 8 months. Even in the present era, SSPE continues to remain the most important cause of progressive myoclonic epilepsy. With progressive increase in age of presentation, in patients with features like loss of vision, seizures and behavioral changes, SSPE should be carefully considered. (J Pediatr Neurol 2004; 2(2): 73–77).

Study of idiopathic inflammatory myopathies with special reference to borderland between idiopathic inflammatory myopathies and muscular dystrophies

Abstract: Background: Idiopathic inflammatory myopathies (IIMs) form important treatable myopathies, hence it is important to recognize and categorize them. In some cases, the differential diagnosis between IIM and muscular dystrophies can be difficult. Aim: To study the clinical and laboratory features of patients with IIMs and compare and contrast this group with limb girdle muscular dystrophies (LGMDs). Setting and Design: A prospective study for the period of five years [1999-2004] was undertaken at a tertiary neuromuscular center. Materials and Methods: Bohan and Peter criteria were used for the diagnosis of IIM and Bushby criteria were used for the diagnosis of LGMD. Patients underwent history, clinical examination, hematological tests, electrophysiological studies and muscle biopsy. The biopsies were studied for histology and immunocytochemistry. A clinical scoring system was evolved to differentiate IIM from LGMD and was validated in a blinded manner. Receiver operator curves were used as the statistical method to analyze the sensitivity and specificity. Results and Conclusions: In the IIM group, dermatomyositis was most common, followed by polymyositis, occurring in young females. Overlap group was less common. In patients with polymyositis, onset in upper girdle was associated with adverse outcome. The scoring system helped to differentiate IIM from LGMD, mainly using clinical pointers. This was particularly valuable in chronic cases.

Duchenne muscular dystrophy: Study of double deletions and familial cases

Abstract: In a cohort of 40 consecutive patients with dystrophinopathy, 29 (725%) showed dystrophin gene deletions Five (172%) of these deletions had two non-contiguous deletions involving proximal and central hotspot regions ie double deletions Patients with double deletions tended to have superior functional grading than those with single or no deletion Double deletions within the dystrophin gene form an interesting feature of this cohort of Indian patients Sporadic cases amounted to 75% (30/40) Deletions in the sporadic Duchenne muscular dystrophy patients were localized to the central hotspot region The proximal hotspot mutations were seen exclusively in the families with affected siblings Clinical course of affected siblings was largely concordant, except for one family One family with intrafamilial phenotypic variability is reported The three male cousins in this family had phenotypes varying from Duchenne muscular dystrophy, Becker's muscular dystrophy to cramp myalgia

Idiopathic inflammatory myopathies

Abstract: Major pathology consists of focal inhomogeneous infl ammation with injury, death, and repair of muscle cells. Each subgroup of myositis has characteristic changes on microscopy and immunochemistry. ■ Etiology is still unclear but selected environmental exposures in genetically predisposed hosts have been found.

Subacute sclerosing panencephalitis.

Abstract: Subacute sclerosing panencephalitis (SSPE) is a slowly progressive brain disorder caused by mutant measles virus. SSPE affects younger age groups. SSPE incidence is proportional to that of measles. High-income countries have seen substantial decline in SSPE incidence following universal vaccination against measles. SSPE virus differs from wild measles virus. Measles virus genome recovered from the autopsied brain tissues demonstrates clustered mutations in virus genome particularly in the M gene. These mutations destroy the structure and functioning of the encoded proteins. Complete infectious virus particle has rarely been recovered from the brain. Human neurons lack required receptor for entry of measles virus inside the neurons. Recent in vitro studies suggest that mutations in F protein confer hyperfusogenic properties to measles virus facilitating transneuronal viral spread. The inflammatory response in the brain leads to extensive tissue damage. Clinically, SSPE is characterized by florid panencephalitis. Clinically, SSPE is characterized by cognitive decline, periodic myoclonus, gait abnormalities, vision loss, and ultimately to a vegetative state. Chorioretinitis is a common ocular abnormality. Electroencephalography (EEG) shows characteristic periodic discharges. Neuroimaging demonstrates periventricular white matter signal abnormalities. In advanced stages, there is marked cerebral atrophy. Definitive diagnosis requires demonstration of elevated measles antibody titers in cerebrospinal fluid (CSF). Many drugs have been used to stabilize the course of the disease but without evidence from randomized clinical trials. Six percent of patients may experience prolonged spontaneous remission. Fusion inhibitor peptide may, in the future, be exploited to treat SSPE. A universal vaccination against measles is the only proven way to tackle this menace currently.

Involvement of morbilliviruses in the pathogenesis of demyelinating disease

Abstract: Two members of the morbillivirus genus of the family Paramyxoviridae, canine distemper virus (CDV) and measles virus (MV), are well-known for their ability to cause a chronic demyelinating disease of the CNS in their natural hosts, dogs and humans, respectively. Both viruses have been studied for their potential involvement in the neuropathogenesis of the human demyelinating disease multiple sclerosis (MS). Recently, three new members of the morbillivirus genus, phocine distemper virus (PDV), porpoise morbillivirus (PMV) and dolphin morbillivirus (DMV), have been discovered. These viruses have also been shown to induce multifocal demyelinating disease in infected animals. This review focuses on morbillivirus-induced neuropathologies with emphasis on aetiopathogenesis of CNS demyelination. The possible involvement of a morbillivirus in the pathogenesis of multiple sclerosis is discussed.

Immune and myodegenerative pathomechanisms in inclusion body myositis

Abstract: Inclusion Body Myositis (IBM) is a relatively common acquired inflammatory myopathy in patients above 50 years of age Pathological hallmarks of IBM are intramyofiber protein inclusions and endomysial inflammation, indicating that both myodegenerative and inflammatory mechanisms contribute to its pathogenesis Impaired protein degradation by the autophagic machinery, which regulates innate and adaptive immune responses, in skeletal muscle fibers has recently been identified as a potential key pathomechanism in IBM Immunotherapies, which are successfully used for treating other inflammatory myopathies lack efficacy in IBM and so far no effective treatment is available Thus, a better understanding of the mechanistic pathways underlying progressive muscle weakness and atrophy in IBM is crucial in identifying novel promising targets for therapeutic intervention Here, we discuss recent insights into the pathomechanistic network of mutually dependent inflammatory and degenerative events during IBM