Usha Kini

Physiology of Bone Formation, Remodeling, and Metabolism

Bone, a highly specialized supporting framework of the body, is characterized by its rigidity and hardness and is endowed with the power of regeneration and repair. Its formation is carried out by osteoprogenitor cells powered by Wnt pathway by two important methods, namely, intramembranous ossification, wherein bone is laid down into the primitive connective tissue (mesenchyme) resulting in the formation of bones as seen in skull, clavicle, and mandible, while endochondral ossification is characterized by a cartilage model which acts as a precursor as in femur, tibia, humerus, and radius. To meet the requirements of skeletal growth and mechanical function, bone undergoes dynamic remodeling by a coupled process of bone resorption by osteoclasts and reformation by osteoblasts.

Aspiration cytology of echinococcus oligarthrus. A case report.

BACKGROUND Fine needle aspiration cytology is a useful technique in the diagnosis of several parasitic infections. The present case highlights the aspiration cytology findings in a case of Echinococcus oligarthrus infection, a rare variant of the Echinococcus species affecting humans. To the best of our knowledge, this is the first case report on the cytology of E oligarthrus in English. CASE A submandibular swelling developed in a 14-year-old male. A mistaken diagnosis of Cysticercus cellulosae was made on the first aspirate and of a hydatid cyst (Echinococcus granulosus) on the second aspirate. A diagnosis of E oligarthrus was made on subsequent histopathologic examination of the excised lesion. CONCLUSION This seems to be the first case report in English of the cytomorphology of E oligarthrus on fine needle aspiration cytology with histopathologic confirmation.

Hirschsprung's disease, associated rare congenital anomalies

Objective: Hirschsprung’s disease may be associated with a number of congenital anomalies of which Down’s syndrome and intestinal atresias are commonly encountered. The study aimed to assess the impact of rare associated anomalies on the diagnosis and management of Hirschsprung’s disease.Methods: A retrospective review of the clinical presentation, diagnosis and outcome of thirty five consecutive newly diagnosed cases of Hirschsprung’s disease encountered over two years was performed.Results: Besides Down’s syndrome (two), intestinal atresia (one) and pigmentary ocular defects (two), three rare anomalies (Occipital meningocele, Calcific meconium cyst with anal stenosis, Malrotation) were encountered in four of thirty five cases. The clinical features, radiologic anatomy and gross morphology of the bowel were unconventional and the diagnosis was supported by intraoperative acetylcholinesterase staining of biopsies. Though the diagnosis was relatively delayed in these cases, the outcome has been comparable to the rest. The dilemma in their diagnosis and management and their possible pathoembryology is discussed.Conclusion: Awareness of such associations and a specific investigative protocol is imperative for timely diagnosis and minimal morbidity in complex presentations of Hirschsprung’s disease.

Correlation of antinuclear antibody immunofluorescence patterns with immune profile using line immunoassay in the Indian scenario.

BACKGROUND Immunity status, individual response to disease and types of antibodies produced are well known to vary from person to person, place to place and probably from population to population. A broad spectrum of specific auto antibodies that have so far been associated with specific rheumatic diseases, as noted in Western literature, has been well taken as a reference standard all over the world. There is neither research work nor any data correlating the auto antibodies and their antinuclear antibody (ANA) patterns with the immunoprofile in the Indian population to date. AIMS To understand a definite association between ANA patterns and specific antibodies in the serum in the Indian study population and to document similarities / differences with the West. SETTINGS AND DESIGN This prospective and retrospective double blind study was undertaken on the South Indian population referred for ANA testing by Indirect Immunofluorescence method and by immunoline methods. MATERIALS AND METHODS Serum samples of patients from a random South Indian population who sought medical help for rheumatic disease were subjected for ANA testing by indirect immunofluorescence (IIF) method and line immunoassay during the study period of 27 months. Serum samples were processed in dilution of 1:100 using HEp - 2010 / liver biochip (Monkey) (EUROIMMUN AG). The serum samples which were further processed for line immunoassay were treated in 1:100 dilution on nylon strips coated with recombinant and purified antigens as discrete lines with plastic backing (EUROIMMUN AG) coated with antigens nRNP / Sm, Sm, SSA, Ro-52, SSB, Scl-70, PM-Scl, PCNA, Jo-1, CENP-B, dsDNA, nucleosomes, histones, ribosomal protein-P, anti-mitochondrial antibodies (AMA-M2) along with a control band. The analysis was done by comparing the intensity of the reaction with positive control line by image analysis. RESULTS The antinuclear antibody indirect immunofluorescence (ANA - IIF) patterns obtained were projectable to visualize a certain spectrum of specific antibodies such as homogenous (45.5%) with dsDNA, nucleosomes, histones, SSA / Ro-52, RIB and RNP / Sm, speckled pattern (35.6%) with Sm, RNP, SSA/Ro-52, SSB, Sm and RIB; nucleolar pattern with Scl-70, Sm, RNP and centromere pattern with CENP-B. The methodology indicated that, cytoplasmic pattern noted in ANA also needs to be correlated with primate liver in a biochip, which should prompt further decision for a request for line immunoassay and it is preferable for two pathologists to report independently and sign out a consensus ANA report for better predictive value. CONCLUSIONS As a definite correlation between the ANA patterns and the group of antibodies was detected by line immunoassay, one could predict presence of certain specific auto antibodies for a particular ANA pattern identified. This may restrict one from requesting for line immunoassay, which is expensive and economizes on the cost of laboratory investigations in a developing country like India. Thus, screening of sera by ANA-IIF method alone may suffice and probably reduce the expense of detailed immunological work-up with minimal loss in diagnostic accuracy. This study, the first of its kind in India, provides database and reference for the Indian subpopulation.

Segmental dilatation of sigmoid colon in a neonate: atypical presentation and histology

Segmental dilatation of the colon is a rare disorder of colonic motility in children, often presenting with severe constipation in older infants, children, and occasionally adults. It may mimic the commoner Hirschsprung disease clinicoradiologically but differs in that the ganglion cell morphology and distribution are typically normal in the colon. We report a neonate with segmental dilatation of the sigmoid colon who had an atypical clinical presentation and describe certain abnormalities in bowel histology (hypertrophied muscularis propria, nerve plexus, and ganglion cells located within the circular layer rather than the normal myenteric location), for the first time in the English literature.

WCAFTI: worrisome cytologic alterations following tissue infarction; a mimicker of malignancy in breast cytology.

The acronym WCAFTI (cafti)—(Worrisome cytologic alterations following tissue infarction) is introduced here for the first time for the entity which describes the spectrum of cytologic changes seen in spontaneous infarction of an epithelial lesion. The pathology may be responsible for abnormal cytologic findings such as cellular dyshesiveness, nuclear enlargement with cytoplasmic blurring and irregular nuclei. Although, it is a rare event, it is essential for a cytologist to be aware of this new acronym WCAFTI to avoid misinterpretation of atypical cells and necrosis as indicators of malignancy. It is typically described here in a fibroadenoma from a 49‐year‐old female who sought medical help for pain in left breast mass. Diagn. Cytopathol. 2008; 36: 586–588.

Correlation of CD4 counts with the FNAC patterns of tubercular lymphadenitis in patients with HIV: A cross sectional pilot study

Fine needle aspiration cytology (FNAC) of TB lymphadenitis (TBL) in HIV shows four different patterns, which may be reflective of immune status. We hypothesize that the CD4 counts, a marker of immunologic status, correlates with FNAC morphology of TBL. This study was undertaken to compare the mean CD4 counts across the different cytology patterns and to correlate the CD4 counts with FNAC patterns in these patients.

Vertebral osteomyelitis with a rare etiology diagnosed by fine-needle aspiration cytology.

Invasive fungal infections are rare in immunocompromised individuals, but are not uncommon in immunologically compromised patients. Bone involvement by these infections, though exceedingly rare, may occur due to direct extension of the infection from a neighboring organ or due to hematogenous dissemination in critically ill patients. Still rarer is the invasive aspergillosis involving either the vertebral body or the intervertebral disc with extension into the extradural space as an abscess. We report one such case of vertebral osteomyelitis due to Aspergillus diagnosed by FNAC in a well‐controlled diabetic patient who presented with nonspecific symptoms and in whom a clinical and radiological diagnosis of Potts spine was considered. The present case stresses the importance of early cytologic diagnosis of vertebral Aspergillus osteomyelitis, which in conjunction with appropriate timely medical and surgical treatment, offers good recovery without much sequelae or threat to life. Diagn. Cytopathol. 2010.

Skip segment Hirschsprung’s disease: a case report and novel management technique

Abstract Skip segment Hirschsprung’s disease is a condition where an area of normally ganglionated intestine is interspersed proximally and distally by aganglionic segments. The occurrence of skip segment has no clear embryological explanation, contrary to the present concept of failure of cranio-caudal migration of neural crest-derived cells in Hirschsprung’s disease. Only 25 case reports have been published in literature so far and this is possibly the first to be reported from Asia. We report one such case with novel surgical management.

Organization for rare diseases India (ORDI) - addressing the challenges and opportunities for the Indian rare diseases' community.

In order to address the unmet needs and create opportunities that benefit patients with rare disease in India, a group of volunteers created a not-for-profit organization named Organization for Rare Diseases India (ORDI; www.ordindia.org). ORDI plans to represent the collective voice and advocate the needs of patients with rare diseases and other stakeholders in India. The ORDI team members come from diverse backgrounds such as genetics, molecular diagnostics, drug development, bioinformatics, communications, information technology, patient advocacy and public service. ORDI builds on the lessons learned from numerous similar organizations in the USA, European Union and disease-specific rare disease foundations in India. In this review, we provide a background on the landscape of rare diseases and the organizations that are active in this area globally and in India. We discuss the unique challenges in tackling rare diseases in India, and highlight the unmet needs of the key stakeholders of rare diseases. Finally, we define the vision, mission, goals and objectives of ORDI, identify the key developments in the health care context in India and welcome community feedback and comments on our approach.