Hereditary neuropathies: Genetics and utility of nerve biopsy

Peripheral neuropathy is one of the most common neurological conditions of the nervous system. Hereditary neuropathies (HNs) form an important group with varying degrees of severity, causing a significant disease burden. Accurate diagnosis is essential for management, counseling, and preventing unnecessary extended workups for acquired etiologies and inappropriate treatment. Several hereditary neuropathies have characteristic or diagnostic histologic findings; however, in the era of molecular diagnostics, the role of nerve biopsy in the diagnosis of hereditary neuropathy has reduced significantly. Nevertheless, in sporadic cases, cases without a clear family history, clinical mimics, cases with rare mutations, and genetic variants of unknown significance, a nerve biopsy can confirm the diagnosis, provide an unexpected diagnosis, or direct a targeted molecular testing. HN may be non-syndromic, affecting predominantly the peripheral nervous system or syndromic where it is a part of more widespread neurological or multisystem involvement. This review summarizes the microscopic pathological features in a nerve biopsy in some of the more commonly encountered inherited peripheral neuropathies highlighting their utility in selected cases.

Basic requirements to establish a neuromuscular laboratory

Histopathological analysis of muscle biopsy is a prerequisite in the evaluation of neuromuscular disorders, particularly inflammatory myopathies, metabolic myopathies, congenital myopathies, muscular dystrophies and differentiating myopathies and neurogenic disorders with overlapping clinically features. It not only provides useful information that helps in the diagnosis but also treatment and management. Fundamental skills and basic knowledge regarding handling, processing and analyzing a muscle biopsy are required in any specialized or a general pathology lab supporting neuromuscular clinical services. Care during transport of the muscle biopsy, sample receipt in the laboratory and grossing is very important. Standard operating procedure should be followed for the preanalytical steps (freezing and cryomicrotomy), routine and special staining (enzyme and non enzymatic) and immunohistochemistry. A well organized neuromuscular laboratory with good quality management system is necessary for the practice of myopathology. This article gives an overview of establishing such a laboratory.

Non-granulomatous inflammatory lesions of CNS: Approach to diagnosis

Infections constitute an important and common category of diseases, particularly in less developed countries. Infections present with a broad spectrum of clinical and radiologic features dictated by the cell and tissue tropism and host response elicited, posing a considerable diagnostic challenge. Early diagnosis and treatment are crucial in preventing mortality and morbidity. Recourse is often made to biopsy for ascertaining the diagnosis, and hence the pathologist plays a vital role in patient management. Therefore, knowledge of the histopathologic changes is necessary to recognize the histological changes and guide the diagnostic workup and management. Each microbial agent elicits a distinctive pattern of inflammatory tissue response, which can serve as a clue to the etiological agent. Based on the causative organism, microbial, and host factors, the inflammatory response may be acute or chronic, necrotic or non-necrotic. The inflammation can be of varied patterns – lymphohistiocytic, granulomatous, inflammatory demyelinating, fibrosing, or showing minimal inflammation. The pattern of necrosis also differs based on the causative organism. Typically, pyogenic bacteria are associated with suppurative inflammation, tuberculosis with caseous granulomatous, and fungi with suppurative granulomatous inflammation. Viral infections are associated with lymphohistiocytic non-necrotizing inflammation and, based on cell tropism, can cause demyelination (e.g., JCV) and/or viral inclusions. Parasitic infections (protozoal or metazoal) display a broad spectrum of inflammatory changes that overlap with other types of infections. This review briefly describes pathological patterns and associated pathogens and provides an algorithmic approach based on pattern recognition that may be useful for the practicing pathologist.

A comparative study of closure versus non-closure of hernial defect in laparoscopic ventral hernia mesh repair

Background: Laparoscopic ventral hernia repair has better out comes when compared to open mesh repair. But closure of the hernial defect is still a contentious issue. This study is designed to compare the outcome of closure versus non-closure of hernia defect in laparoscopic ventral hernia repair.Methods: A 2 years prospective randomized controlled study was conducted on 60 patients undergoing elective laparoscopic ventral hernia repair in the Department of General Surgery (November 2016 to October 2018).Results: The patients in the two groups were analyzed using Chi-square, ANOVA, Fisher exact test, and results were formulated. The mean age of ventral hernia was 41 years and overall incidence more in females. Paraumbilical hernia is the commonest variety of ventral hernia and 63.3% hernias were reducible. Average post-operative length of hospital stay was 2 days with no difference in both the groups. Post-operative pain was more in intraperitoneal onlay mesh (IPOM) plus group. Seroma formation and Incidence of mesh bulge was found be more in IPOM group, but there was no difference in the incidence of chronic pain or recurrence rate between the two groups. All the above proved statistical significance.Conclusions: Primary defect closure in ventral hernia along with mesh placement in laparoscopy seems to have better outcome, with respect to less chance of seroma formation and mesh bulge.

Cutaneous amyloidosis at the site of insulin injection with coexistence of acanthosis nigricans.

Skin is one of the important organs affected by amyloidosis which is characterized by extracellular deposition of fibrillary proteins having homogenous, eosinophilic on routine staining with distinct tinctorial properties. Nodular cutaneous amyloidosis is rare and may affect dermis, subcutis and also vascular walls. Nodular amyloid deposits in the deeper dermis occurring at the site of insulin injection are a rare observation, which is described here. This description indicates that cutaneous amyloidosis may be associated with local subcutaneous injections of insulin and may clinically mimic a neoplasm or lipodystrophic lesion.

Chemotherapy induced nausea & vomiting (CINV).

Chemotherapy is the first line treatment in management of many cancers, both for cure and palliation; hence it’s crucial to minimize the unpleasant side effects of chemotherapy to increase tolerability to chemotherapy. Most of the conventional anti cancer drugs are emetogenic. Patients receiving chemotherapy experience different degrees of nausea and vomiting depending on the emetogenic potential of the anti cancer drugs given and the patient characteristics. With a better understanding of the pathophysiology, distinct phases of chemotherapy-induced nausea and vomiting (CINV) i.e., acute emesis, delayed emesis and anticipatory emesis have been identified. Identification of various mediators has led to the development of different drugs acting through different mechanisms which are useful in the prevention and treatment of CINV. Serotonin receptor three (5-HT3) antagonists, corticosteroids and neurokinin type one receptor (NK-1) antagonists are of proven usefulness and have wide therapeutic indexes in the prevention of CINV. Other drugs like dopamine receptor antagonists & benzodiazepines are not routinely used because of their narrow therapeutic index. Practice guidelines for prevention of CINV will not only improve patient’s tolerability to chemotherapy & wellbeing, but also decrease hospital stay and overall cost of treatment of the patient.

Chemotherapy induced nausea & vomiting (CINV).

Chemotherapy is the first line treatment in management of many cancers, both for cure and palliation; hence it’s crucial to minimize the unpleasant side effects of chemotherapy to increase tolerability to chemotherapy. Most of the conventional anti cancer drugs are emetogenic. Patients receiving chemotherapy experience different degrees of nausea and vomiting depending on the emetogenic potential of the anti cancer drugs given and the patient characteristics. With a better understanding of the pathophysiology, distinct phases of chemotherapy-induced nausea and vomiting (CINV) i.e., acute emesis, delayed emesis and anticipatory emesis have been identified. Identification of various mediators has led to the development of different drugs acting through different mechanisms which are useful in the prevention and treatment of CINV. Serotonin receptor three (5-HT3) antagonists, corticosteroids and neurokinin type one receptor (NK-1) antagonists are of proven usefulness and have wide therapeutic indexes in the prevention of CINV. Other drugs like dopamine receptor antagonists & benzodiazepines are not routinely used because of their narrow therapeutic index. Practice guidelines for prevention of CINV will not only improve patient’s tolerability to chemotherapy & wellbeing, but also decrease hospital stay and overall cost of treatment of the patient.

Is hysterectomy needed in ovarian cancer.

Context: Hysterectomy is an integral part of ovarian cancer surgery. The authors have evaluated the uterine involvement in ovarian cancer in this study. Aims : Conventionally, removal of the uterus is considered an essential part of ovarian cancer surgery, but rationale for same in absence of its gross involvement is questionable. Aim of this study was to evaluate the microscopic involvement of uterus in ovarian cancer and whether there are any predictors of uterine involvement. Settings and Design: Retrospective study. Materials and Methods: The authors analyzed 128 patients of epithelial ovarian cancer (EOC) operated from 2004 January to 2008 June, who had not undergone hysterectomy previously. Data regarding their demographic, clinical, and pathological findings was collected and analyzed. Statistical analysis used: Chi-square test. Results: Most of our patients (n=111) presented with stage III or above. Serous carcinoma was the most common histology encountered (86.7%). Uterus was grossly involved in only 19 patients and microscopic involvement was noted in 20 patients. Only one patient with absence of gross involvement had microscopic disease in the uterus. Involvement of the uterus was found to be independent of stage, type of tumor, laterality, and preoperative chemotherapy. The grade of tumor and gross uterine involvement were only factors that showed statistically significant correlation with microscopic uterine involvement. Only one patient had synchronous endometrial cancer. Conclusions: Uterine involvement in EOC is not common. Absence of gross uterine involvement reliably predicts absence of microscopic disease.

Extrarenal calyces: A rare anomaly of the renal collecting system.

The abnormalities of the renal collecting system represent a complex and often confusing subset of urological anomalies. They manifest in many ways and often make preoperative diagnosis difficult. Extrarenal calyces (wherein the calyces and renal pelvis lie outside the renal parenchyma) is one of the rare anomaly of the collecting system. This anomaly may be associated with other anomalies of the urogenital system. We describe in this case report an unusual case of extrarenal calyces with five long calyces draining a hydronephrotic kidney with associated ureteral atresia. Radiological investigations failed to clearly define these abnormalities. The present case helps in understanding the characteristics of a rare, complex anomaly of the urinary system.

Hemorrhagic Pericarditis in a child with primary varicella infection (chickenpox).

Chickenpox (Varicella) representing the primary infection by Varicella zoster virus is a common benign and self-limited infectious disease of childhood. Although the disease can be associated with complications, they are generally mild and tend to occur in adults and immunocompromised children. Severe and life-threatening complications are extremely rare, particularly those involving the cardiovascular system. We report a malnourished 5-year-old girl with chicken pox complicated by hemorrhagic pericarditis and deep vein thrombosis leading to fatal pulmonary thromboembolism. Though varicella infection runs a benign self-limiting course, it continues to cause significant morbidity and mortality when associated with complications, particularly in malnourished children. Hence, the importance of vaccination and early recognition of complications is emphasized.

Evaluation of hair growth activity of Buxus wallichiana Baill extract in rats

The aim of this study was to evaluate antioxidant and hair growth activities of Buxus wallichiana Baill [Buxaceae]. Petroleum ether, chloroform, methanol and aqueous extracts of Buxus wallichiana subjected to antioxidant activity by; 2, 2-diphenyl-1-picryl hydrazyl and nitric oxide methods. Methanol extract of Buxus wallichiana at 50, 100 mg/kg, ointment of methanol extract at 5 and 10% used for the evaluation of hair growth property. Methanol extract showed potential antioxidant activity. Methanol extract at 100 mg/kg showed consistent and significant increase in mean score of hair growth from day 3 to day 24. Whereas 50 mg/kg increased the mean score significantly, only from day 15 to day 24. When methanol extract at 10% applied topically, significant increase in mean hair score observed only from day 15, but at 5% showed considerable increase in mean hair score only from day 21 and 24, when compared to the control. Conclusion The result of this study suggests that Methanol extract of Buxus wallichiana possess good antioxidant and hair growth activity

Pharmacognostical studies of Portulaca oleracea Linn / Estudos farmacognósticos de Portulaca oleracea Linn

Portulaca oleracea Linn, belongs to family Portulaceae and is a widely distributed weed. It has been used as a folk medicine in many countries as diuretics, febrifuge, antiseptic, antispasmodic and vermifuge. This paper deals with the microscopic study of leaf; stem and root of Portulaca oleracea, along with the physico-chemical and preliminary phytochemical analyses that were also studied.

Portulaca oleracea Linn, pertence à família Portulaceae e é uma erva daninha amplamente distribuída. Ela tem sido utilizada como remédio popular em muitos países como diurético, febrífugo, anti-séptico, antiespasmódico e vermífugo. Este artigo aborda o estudo microscópico da folha, caule e raiz de Portulaca oleracea, juntamente com as análises físico-química e fitoquímica preliminar que foram também estudadas.

Neurothekeoma of the eyelid: a case report.

The purpose of this article is to describe a rare benign tumor of nerve sheath origin arising from the eyelid in an elderly male. Local excision was done and histopathological examination revealed a neurothekeoma. Six months later the patient was doing well with no recurrence. The case was unique in that the patient was an elderly male while neurothekeoma is commonly seen on the face of young adults, especially females.

Juvenile polyposis with macrocephaly and mental retardation (? Ruvalcava-Myhre-Smith syndrome)--a case report.

A male child aged one and a half years with a history of rectal bleeding, on examination was found to have severe degree of anaemia with grade -III protein-energy-malnutrition and pneumonia. Colonoscopy revealed features of colonic polyposis. An upper gastro-intestinal endoscopy showed a duodenal polyp while barium meal follow-through did not reveal any polyps in the small intestine. Total colectomy and ileo-rectal anastomosis was done. Following histopathological study, the diagnosis of Juvenile polyposis syndrome was made, a very rare entity and is known to lead to adenocarcinoma of the gastrointestinal tract. In addition the child was found to have macrocephaly and mental retardation. The rarity and importance of the diagnosis of juvenile polyposis syndrome associated with macrocephaly and mental retardation (?Ruvalcava-Myhre-Smith syndrome) prompted the documentation of this case.