Rakesh Kumar

Narsimha Reedy Engineering College · Computer Science

Histochemistry is an art deployed to identify the nature of chemical components within the tissue by means of visually observable chemical reactions [1]. The chemical reactions produce color and hence can be easily visualized. Skeletal muscle would probably rank first in the utilization of histochemical stains [2, 3]. Histochemical reactions can be...

Clinical information (most important but least provided)

Mitochondria are specialized cell organelles present in eukaryotes and postulated to have evolved from free-living bacteria approximately two billion years ago [1]. The primary function of mitochondria is energy production through oxidative phosphorylation (OXPHOS). Other than OXPHOS, mitochondria play key roles in Ca²⁺ homeostasis, apoptosis, etc....

Congenital myopathies (CM) are a gamut of clinicopathologically and genetically distinct disorders characterized by early-onset hypotonia and muscle weakness and inherited in autosomal dominant, recessive, or X-linked manner. Sometimes sporadic forms are seen. Respiratory muscle weakness is often severe and out of proportion to that of limb muscle...

The most difficult aspect in myopathology is to provide a comprehensive classification of skeletal muscle diseases. Various classification systems exist, but none is superior to the other. Briefly, the classifications can be broadly grouped into clinical, pathological, clinicopathological, and etiological systems. We will follow the clinicopatholog...

The term dystrophy is derived from the Greek word “dus” meaning “bad” and “trophia” meaning “nourishment” as it was initially thought of muscle disease due to disordered nutritional factors. Muscular dystrophies are a group of heterogeneous genetic disorders that have in common irreversible loss of muscle fibers resulting from repetitive cycles of...

The use of antenatal tests for routine screening of neuromuscular disorders is currently not recommended due to insufficient validated data justifying the merits and demerits. Currently, screening of neuromuscular disorders is done in research settings and on an individual case when a genetic etiology is suspected for which a confirmatory genetic d...

The purpose of this chapter is to make the reader familiar with the terminologies that are commonly used in myopathology. The common data element (CDE) standards have recently been developed for muscle biopsy reporting [1]. This is to ensure that the myopathologists worldwide speak the same language and avoid controversies in the diagnosis, classif...

Biobank has no unified/consensus definition. Skeletal muscle biobank can be defined as a systematic collection of biological specimens (myocytes/skeletal muscle tissues) and health information of the participants (patients affected by neuromuscular disorders or healthy volunteers) for the purpose of research [1]. The patients’ complete clinical and...

The term “metabolism” has its origin from the Greek word metaballen which means “change.” It is the process of transformation (change) of chemical compounds (metabolites) in the body by virtue of tightly regulated chemical reactions (pathways) to sustain life. Metabolic myopathies (MM) refer to a set of muscle disorders caused by impairment in the...

Artifacts are aberrations observed in a specimen that result from deviation in a protocol intented for a specific purpose. Sometimes, they are inevitable, but most often they can be prevented if adequate measures are taken. Artifacts can sometimes be diagnostically useful. However, for all practical purposes, artifacts are one of the most important...

Neurogenic disorders constitute a distinct group characterized by features of denervation (neurogenic atrophy) in muscle biopsy. The muscle biopsy may also show evidence of reinnervation and compensation. The primary disease can involve any portion of the motor pathway, from motor neurons in the cerebral cortex to the peripheral nerve. A motor neur...

Unlike most of the subspecialties of histopathology, myopathology demands a lot of information from the clinician in order to arrive at a specific diagnosis. Muscle biopsy being a sophisticated investigation needs complete clinical information supplemented by electrophysiological studies, imaging especially magnetic resonance imaging (MRI), and bio...

Myopathies which need a separate discussion and cannot be grouped into any of the broad categories or that need special mention have been included under this category. The discussion may not comply with a conventional teaching or classifications. Sincere effort is made to make the readers comfortable with the entities discussed without much deviati...

The word “muscle” is derived from the Latin word musculus meaning “little mouse.” Skeletal muscle constitutes ~30–45% of the total body mass in an average adult and ~25% in a neonate. The skeletal muscle mass is influenced by various factors such as the genetic makeup of the individual, physical activity, nutrition, hormones, and associated comorbi...

Planning a skeletal muscle biopsy procedure starts at the clinic. Once the physician or surgeon feels the need for a muscle biopsy, a good communication with the myopathologist is essential. Muscle biopsy procedure is not only a planned procedure for the clinician but also for the myopathologist who has to be mentally and technically prepared. An e...

Inflammatory myopathies are a heterogeneous class of acquired muscle diseases occurring in a myriad of clinical settings, which are unified by the presence of moderate to severe muscle weakness and features of inflammatory myopathy (not necessarily inflammation) on muscle biopsy. Even in the absence of inflammatory infiltrates, the major histocompa...

The first unequivocal microscopic description of autopsy muscle histopathology was presented by Edward Meryon in 1851 at a meeting of the Royal Medical and Chirurgical Society in London, and the study was published a year later [1]. Von Griesinger was the first to perform a muscle biopsy in 1864. In the following year, Guillaume-Benjamin-Amand Duch...

The congregation of axon terminals (synaptic buttons/presynaptic membranes), muscle end plate (postsynaptic membrane), and the space in between these two structures constitutes the neuromuscular junction (NMJ). The signal transduction occurs from nerve to muscle (neurotransmission) by virtue of various factors. The key player is the organic chemica...

This book covers all aspects of basic, essential, recent advances and controversies in myopathology. The major emphasis is on diagnostic myopathology of muscular dystrophies, inflammatory myopathies, mitochondrial myopathies, metabolic myopathies, congenital myopathies, myopathies of miscellaneous etiology, neurogenic and neuromuscular junction dis...

A 42‐year non‐smoker male with no occupational or environmental toxin exposure had an uneventful road traffic accident. A coin‐shaped solitary nodule in the right lung was noted on chest X‐ray. On computed tomography (CT) scan, it was a heterogeneously enhancing lesion (Figure 1A). This article is protected by copyright. All rights reserved.

Aims: Vascular complications have the most serious consequences in patients with tuberculous meningitis (TBM). Although stroke is seen in approximately 20% of patients with TBM, the underlying vascular damage and infarction are much more extensive. This study has been undertaken to study the pathology at different levels of cerebral vessels and th...

Background To study the etiology of hepatic diseases in children at autopsy in North India. Material and methods One hundred and eighty-one pediatric autopsy cases, (age range 0-14 years) who presented with signs and symptoms of hepatic diseases were analyzed. Results Of these 66.9% were males. Metabolic disorders (38.7%) were the most common fol...

Background Indian childhood cirrhosis (ICC) is unique to the Indian subcontinent and has fascinated the scientific community for decades. ICC is said to be disappearing from India but scattered reports of ICC-like cirrhosis are appearing in the West. Materials and methods Fifteen cases of ICC were diagnosed amongst 181 pediatric autopsies with var...

Decompressive craniectomy in pediatric central nervous infections with refractory intracranial hypertension is less commonly practiced. We describe improved outcome of decompressive craniectomy in a 7-year-old boy with severe herpes simplex encephalitis and medically refractory intracranial hypertension, along with a brief review of the literature....

Mucous gland adenoma of the lung is an uncommon benign tumor that histologically resembles the mucus-secreting component of tracheobronchial gland. The majority arises within the main, lobar, or segmental bronchi but parenchymal involvement had also been reported. We herein present a case of mucous gland adenoma arising from the left lower lobe bro...

Mesenchymal chondrosarcoma of the kidney is a very rare entity with no definite treatment protocol. Herein, we describe one such case with discussion of its diagnosis and management. The patient had a well circumscribed mass in right kidney extending into the inferior vena cava and metastasis to both the lungs. Right nephrectomy was performed and t...

Context: Secretory meningioma is a rare subtype of meningiomas, displaying epithelial and secretory differentiation of meningothelial cells. It has unique radiological, morphological, and immunohistochemical features, but runs a benign course. Radiological picture because of the variable degrees of peritumoral edema can be confused with aggressive...

Amongst the lung tumors, granular cell tumor (GCT), also known as granular cell myoblastoma, or Abrikossoff is one of the rarest tumors. Herein, we present a case of a 6-year-old male child who presented with a history of cough, fever and recurrent pneumonia due to a 8 × 5 × 3 cm GCT.

Fibromatosis form a spectrum of clinicopathologic entities characterized by the infiltrative proliferation of fibroblasts that lack malignant cytologic features. The fibromatosis can be localized or infiltrative and multicentric and can involve internal tissues and organs as the mesentery, retroperitoneum, breast, and almost every organ and region...

This report describes the clinical, radiological and autopsy findings of a young male suffering from acute, monophasic demyelinating disease presenting with acute onset of altered sensorium and a short past history of progressive multiple neurological deficits. The radiological findings revealed acute infarcts in the territory of anterior cerebral...

We describe an autopsy case of a 1-year-old male baby presenting with failure to gain milestones, floppiness, and reddish skin lesions since birth. Fundoscopic examination revealed bilateral cherry-red spots in the macula. The baby died of respiratory failure and autopsy revealed numerous ballooned neurons and astrocytes with cytoplasmic storage ma...

We intended to assess the clinicopathological features and treatment outcome in patients of primary gliosarcoma, a rare malignant brain tumour. Medical records were reviewed and data collected on primary gliosarcoma over an 8-year period (2002-2009) from the departmental archives. Overall survival (OS) was analysed by Kaplan-Meier method. Seventeen...

The difficulty in correctly identifying follicular lesions/neoplasms (FN) of thyroid is a well recognized fact. The present study was undertaken to study the degree of interobserver variability among cytopathologists and histopathologists in the diagnosis of these lesions. A total of 74 cases were chosen with a cytological diagnosis varying from FN...

We describe a case of congenital toxoplasmosis with absent serum serological markers in mother and baby, presence of periventricular cysts on radiology and jelly-like coagulum within the dilated ventricles at autopsy, extremely rare features of congenital toxoplasmosis which have not been reported in the literature. A 45-day-old female baby (first...

The substituted 4-phenylpiperazine D3 dopamine receptor selective antagonist PG01037 ((E)-N-(4-(4-(2,3-dichlorophenyl)piperazin-1-yl)but-2-enyl)-4-(pyridin-2-yl)benzamide) was reported to attenuate L-dopa-associated abnormal involuntary movements (AIMs) in unilaterally lesioned rats, a model of L-dopa-dependent dyskinesia in patients with Parkinson...

We present a case of 53 years old male who developed reddish thickening on sclera and was diagnosed as scleral maltoma after investigations. Primary scleral involvement remains only a theoretical possibility and has never been documented in literature except for one odd case report where orbital lymphoma was misdiagnosed as scleritis but later prov...

Adult rhabdomyoma (ARh) is a rare, benign tumor originating in striated muscle cells. Ninety-three percent of the tumors occur in the head and neck region and sometimes mimic malignant tumors clinically. The preoperative correct diagnosis of this tumor is important as it can help in deciding on management. We report two cases of ARh diagnosed by fi...

Aim We sought to determine the role of telomerase and its catalytic subunit hTERT in pancreatic cancer and evaluate the epigenetic regulation of hTERT by promoter methylation. Methods Thirty paired samples of pancreatic ductal adenocarcinomas and adjacent normal tissue and 12 chronic pancreatitis samples were studied. Reverse transcriptase polymera...

In the present report, the D3 receptor pharmacophore is modified in the 2,3-diCl- and 2-OCH(3)-phenylpiperazine class of compounds with the goal to improve D3 receptor affinity and selectivity. This extension of structure-activity relationships (SAR) has resulted in the identification of the first enantioselective D3 antagonists (R- and S-22) to be...

The D3 dopamine receptor selective antagonist PG01037 has been evaluated for the ability to attenuate L-dopa-associated abnormal involuntary movements (AIMs) in unilaterally lesioned male Sprague-Dawley rats, which is a model of L-dopa-dependent dyskinesia in patients with Parkinson's Disease. The intrinsic activity of PG01037 was determined using...

A panel of novel D2 and D3 dopamine receptor selective antagonists, partial agonists and full agonists have been evaluated for the ability to attenuate L-dopa-associated abnormal involuntary movements (AIMs) in 6-hydroxydopamine (6-OHDA) unilaterally lesioned male Sprague Dawley rats, which is an animal model of L-dopa-induced dyskinesia (LID). LID...

Discovering dopamine D2-like receptor subtype-selective ligands has been a focus of significant investigation. The D2R-selective antagonist 3-[4-(4-chlorophenyl)-4-hydroxypiperidinyl]methylindole (1, L741,626; K(i)(D2R/D3R) = 11.2:163 nM) has previously provided a lead template for chemical modification. Herein, analogues have been synthesized wher...

Histological analysis has limited value to predict biological behavior of meningiomas. We investigated the utility of cell proliferative indicator in the evaluation of histologically benign meningiomas. We selected 25 benign non-recurrent meningiomas, 15 benign recurrent meningiomas after complete surgical resection, 30 atypical meningiomas, and 15...

Fibronectin is a multifunctional large molecular weight glycoprotein that can bind extra-cellular and cellular components. The aim of the present study was to evaluate expression of fibronectin and its significance in cases of hepatocellular carcinoma (HCC). A few previous studies have shown abnormal over- expression of fibronectin in cases of HCC....

Background: Osteogenic sarcoma (OS) is a highly malignant tumor of the bone. There are few reports in the literature regarding determination of c-erb B-2 (HER-2/neu) expression in cases of OS and also the results are quite variable. Aim: The present study was undertaken to correlate the expression of c-erbB2 with the survival of patients of OS....

Ossifying fibromyxoid tumor (OFMT) of soft tissue is an uncommon, recently described neoplasm. It is usually, but not universally, a benign neoplasm and cases of metastatic so-called "malignant OFMT" have been reported. Although the histopathologic features of OFMT are well characterized, the same is not entirely true so far as the cytology literat...

We describe a case of intracavitary metastasis of Mantle Cell Lymphoma of gastrointestinal tract, which mimicked an atrial myxoma. The gastrointestinal lymphoma led to widespread metastasis and a large metastatic tumor deposit at the hilum of the right lung caught up the hilar vessels. This led to infiltration into the pulmonary veins and intracavi...

Chorangiopagus parasiticus twins (CAPP) occur due to asymmetric abnormality of monozygous, twinning. It is the commonest form of asymmetric twinning, occurring in 1% of monozygous twins. The asymmetric twin survives by parasitizing the more normally developed co-twin by connecting with the chorionic circulation, hence, chorangiopagus parasiticus. C...

Non-cirrhotic portal fibrosis (NCPF), the equivalent of idiopathic portal hypertension in Japan and hepatoportal sclerosis in the United States of America, is a common cause of portal hypertension in India. The clinical features, portographic and histological findings, and management of 151 patients with non-cirrhotic portal fibrosis are presented....

An uncommon histologic variant of cardiac myxoma masquerading as a mural thrombus is described. The association of focal segmental glomerulosclerosis with cardiac myxoma may be coincidental and further studies of renal pathology in cases of cardiac myxoma are indicated.