Lagophthalmos: An etiological lookout to frame the decision for management

Purpose: To describe the etiology, clinical profile, duration of lagophthalmos cases and thereby, framing a decision for the management based on the severity of Exposure keratitis (EK), Facial palsy (FP) with each etiology and to describe the outcome of the management options. Methods: The method was a prospective review of 120 lagophthalmos cases treated at a single tertiary center from January 2018 to January 2019. The main outcome measures were analysing the association between age, etiology, duration and management of lagophthalmos. Results: Of the 120 patients studied, paralytic etiology was noted in 86 and eyelid etiology in 34 patients. The percentage of various lagophthalmos etiology documented were Bell’s palsy (35.83%), lagophthalmos in ICU patients (15%), traumatic facial palsy(FP) (10.80%), stroke associated FP (6.67%), infection associated FP (6.67%), iatrogenic FP, cicatricial lagophthalmos (5%), lagophthalmos post eyelid surgeries (5%), neoplastic FP(3.33%), congenital FP (1.67%), proptosis induced lagophthalmos (1.67%), floppy eyelid syndrome induced lagophthalmos (0.83%) and lid coloboma associated lagophthalmos (0.83%). A statistically significant correlation was noted between exposure keratitis and age, with an increased prevalence age advances. The management showed significant variation with individual etiology, with some etiologies unquestionably requiring surgical management. Surgical management is crucial as the duration of lagophthalmos increases more than 6 weeks, EK involving pupillary axis and poor FP recovery. Conclusion: This study concludes that the conservative management was sufficient in all cases when the duration is less than 1 week, Exposure keratitis not involving the pupillary axis (EK< Grade II) and FP with good functional recovery ( FP < Grade III). The predominant causes being Bell’s palsy, lagophthalmos in ICU patients and vascular FP. Whereas, cases with poor functional recovery of facial palsy(FP) and permanent eyelid deformation require definitive surgical management like Traumatic FP & cicatricial lagophthalmos

Giant lipoma of breast: A rare case report

Malignant Lymphoma is uncommon in female genital tract. A rare presentation of Malignant Lymphoma of the vagina has been reported here. A 61 years old woman presented with postmenopausal bleeding of 10 days duration. On examination per vaginum, the patient had firm nodular infiltrative growth involving entire posterior vaginal wall and full thickness of recto-vaginal septum. Bleeding ulcer was seen at the superior part of the growth which is extending up to introitus. Cervix was free. Per rectal examination showed infiltration of anterior rectal wall. There was no lymphadenopathy or hepato-splenomegaly. C.T. Scan of abdomen revealed a large malignant soft tissue tumor involving the walls of vagina and infiltrating the rectum. Histopathology of the tumor revealed Diffuse Histiocytic lymphoma

A study of triple negative breast carcinomas.

Aim and objectives: To show the incidence of triple negative breast carcinomas in the younger age group (20-40 years) in the study sample and to establish a correlation between expression patterns of estrogen receptor (ER), progesterone receptor (PR) and HER2 /neu with tumour histopathology of breast carcinoma. Material and methods: A 5 years study, 2 years restopective and 3 years prospective was conducted in Mahatama Gandhi Memorial hospital, Warangal, from 2009 to 2014 on triple negative breast carcinomas. All the mastectomy specimens, received in the pathology Department during this period were considered. Results: Total of 28 cases of carcinoma breast in females diagnosed histopathologically, were included in the study. In the present study, the patients were in the age group of 20-40 years Since most carcinomaS in this age group are triple negative. most of the tumours werte of size > 5 cm, 12 cases (43%), followed by 10 cases (36%) of size 2-5 cm. Total 20 (71.4%) were IDC (NOS), followed by 4 (14.2%) were Medullary carcinomas and 2 (7.1%) cases of ILC and each 1 (3.6%) case of tubular and Mucinous carcinomas. Histopathological grading was done according to Modified Bloom Richardson grading and found that 11 (39.3%) were of grade II followed by 5 (17.9%) cases were grede lll,4 cases were of grade I and 8 cases were inassessible. ER and PR were positive in 61% and 47% of tumors respectively. HER-2 over expression was seen in 36% of tumors and was negative in 64% of tumours. Triple negative carcinomas were 4 out of 28 cases, of which 3 were IDC (NOS) and 1 was medullary carcinoma. Triple negative carcinomas are associated with poor prognosis. Conclusion: ER, PR and HER-2 status correlates well with histopathological grading and other clinico-pathological parameters. Higher grade is associated with HER-2 positivity and ER/PR negativity,larger tumor size, lympho-vascular invasion, lymph node metastasis, and higher clinical stage.

A comparative study between conventional system and the Bethesda system applied for reporting thyroid cytopathology.

Aim and objectives: To compare the conventional and the Bethesda system for reporting thyroid cytopathology (TBSRTC), to correlate the cases with histology wherever available and to determine the sensitivity, specificity and false positive rates of both the methods. Material and methods: A Total of 240 patients who presented with thyroid gland swelling were subjected to thyroid fine needle aspiration cytology (FNAC) and the smears were made followed by H&E staining and reporting was done The convential system used at our centre includes description of microscopic findings of the case along with an impression at the end. The categorization according to the Bethesda system of reporting thyroid cytology were done using criteria published in the atlas and related literature. The cytological diagnosis was correlated with the histological diagnosis wherever it was available. The sensitivity, specificity, false positive rates were calculated considering cytology as screening test for differentiating between neoplastic and non-neoplastic lesions. Results: When the results of the conventional system were compared with the Bethesda adapted method was found to be more superior. Sensitivity of Bethesda system was significantly high (100%) as compared to conventional system (77%). Specificity of Bethesda system was also significantly high (82.5%) as compared to conventional system (69%). Conclusion: Our findings were consistent with others who used the Bethesda cytopathology reporting system.

A Study on Expression of P53 in Surface Epithelial Ovarian Tumours

Aims and Objectives (1) To perform and interpret p53 immunostaining on the diagnosed malignant surface epithelial ovarian tumours. (2) To correlate expression of p53 with histological type of malignancy. Materials and Methods A 2-year prospective study was done i.e., from October 2011 to September 2013 on ‘A study on expression of p53 in surface epithelial ovarian tumours’ in MGM Hospital, Warangal. All the ovarian surface epithelial tumour specimens, received in the pathology department during this period were considered. Results A total of 121 cases were studied, out of which benign tumours were the most common (64.4%), followed by malignancy (25.6%) and 12 cases(10%) of borderline malignancy. Most of the benign tumours were unilateral; the cases that showed bilateral involvement were mostly malignant. The maximum number of cases in the present study was seen in the age group of 31–60 year. The youngest patient was 16 year old and the oldest was 68 year old. Serous cyst adenoma was the most common neoplasm found and accounted for 53 cases (43.8%), followed by mucinous cystadenoma, which accounted for 21 cases (17.3%). Nine cases of serous cystadenofibroma (7.43%), 3 borderline serous tumours (2.47%) and 11 serous cystadenocarcinoma (9%) were found in the present study. Out of the 44 mucinous tumours, 21 were benign (17.3%), 3 were of borderline malignancy (2.47%) and 20 were malignant (16.5%). One case of mucinous cystadenocarcinoma was found to be associated with adenocarcinoma of ascending colon. One case of benign Brenner tumour was also found in the present study. The rate of p53 abnormalities varies with histological type, grade and stage of the tumour. P53 expression was more in malignant serous tumours as compared to the malignant mucinous tumours.

Conjunctival Squamous Cell Carcinoma with Stromal Invasion

Limbal squamous cell carcinoma is uncommon worldwide. Its early stages of presentation may look like the commoner limbal mass, pterygium or actinic keratosis. We report a case of invasive squamous cell carcinoma of limbusin a 45-year female patient. A high index of suspicion is required to prevent delay in the diagnosis of an invasive condition that can destroy the eye completely[1]. A rare case of squamous cell carcinoma of the conjunctiva is presented here. This highlights the significance of aggressive management of such cases surgically and the use of adjuants per operatively to prevent recurrence.

Epistatic interactions in idiopathic pulmonary arterial hypertension.

BACKGROUND: Idiopathic pulmonary arterial hypertension (IPAH) is a poorly understood complex disorder, which results in progressive remodeling of the pulmonary artery that ultimately leads to right ventricular failure. A two-hit hypothesis has been implicated in pathogenesis of IPAH, according to which the vascular abnormalities characteristic of PAH are triggered by the accumulation of genetic and/or environmental insults in an already existing genetic background. The multifactor dimensionality reduction (MDR) analysis is a statistical method used to identify gene–gene interaction or epistasis and gene–environment interactions that are associated with a particular disease. The MDR method collapses high-dimensional genetic data into a single dimension, thus permitting interactions to be detected in relatively small sample sizes. AIM: To identify and characterize polymorphisms/genes that increases the susceptibility to IPAH using MDR analysis. MATERIALS AND METHODS: A total of 77 IPAH patients and 100 controls were genotyped for eight polymorphisms of five genes (5HTT, EDN1, NOS3, ALK-1, and PPAR-γ2). MDR method was adopted to determine gene–gene interactions that increase the risk of IPAH. RESULTS: With MDR method, the single-locus model of 5HTT (L/S) polymorphism and the combination of 5HTT(L/S), EDN1(K198N), and NOS3(G894T) polymorphisms in the three-locus model were attributed to be the best models for predicting susceptibility to IPAH, with a P value of 0.05. CONCLUSION: MDR method can be useful in understanding the role of epistatic and gene–environmental interactions in pathogenesis of IPAH.

MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency.

Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is one of the genetic defects of mitochondrial fatty acid beta-oxidation presenting in early infancy or childhood. If undiagnosed and untreated, VLCAD deficiency may be fatal, secondary to cardiac involvement. We assessed the effect of replacing part of the fat in the diet of a 2 ½-month-old male infant, who was diagnosed with VLCAD deficiency,with medium-chain triglyceride (MCT) oil and essential fats. The patient presented with vomiting, dehydration, and was found to have persistent elevation of liver function tests, hepatomegaly, pericardial and pleural effusion, right bundle branch block, and biventricular hypertrophy. Because of the cardiomyopathy, hepatomegaly, and an abnormal acylcarnitine profile and urine organic acids, he was suspected of having VLCAD deficiency. This was confirmed on acyl-coA dehydrogenase, very long chain (ACADVL) gene analysis. He was begun on an MCT oil-based formula with added essential fatty acids, uncooked cornstarch (around 1 year of age), and frequent feeds. By 7 months of age, cardiomyopathy had reversed and by 18 months of age, all cardiac medications were discontinued and hypotonia had improved such that physical therapy was no longer required. At 5 years of age, he is at the 50th percentile for height and weight along with normal development. Pediatricians need to be aware about the basic pathophysiology of the disease and the rationale behind its treatment as more patients are being diagnosed because of expansion of newborn screen. The use of MCT oil as a medical intervention for treatment of VLCAD deficiency remains controversial mostly because of lack of clear phenotype-genotype correlations, secondary to the genetic heterogeneity of the mutations. Our case demonstrated the medical necessity of MCT oil-based nutritional intervention and the need for the further research for the development of specific guidelines to improve the care of these patients.

Tuberculin specific T cell responses in BCG vaccinated children.

The effector mechanisms of BCG protection were examined 5-7 years after vaccination. The in vitro lymphoproliferation, following stimulation with tuberculin, in normal, (A) vaccinated and (B) unvaccinated children and children with tuberculosis (C), were assayed. The mean stimulation index (SI) of lymphocyte transformation in normal subjects were significantly (P < 0.05) higher than those with tuberculosis. The ratio of tuberculin-specific CD4 to CD8 cells in short-term cultures were significantly (P less than 0.05) higher in the vaccinees. In group (A), 70 % had positive ratios as against 20 %and 0 %in groups (B) and (C), respectively. Secretion of IL-2 by the cells was significantly (P < 0.05) high in the vaccinated. None of the unvaccinated children had positive levels of IL-2. The vaccinees also had highly significant (P < 0.01) levels of IFN-)in the supernatants of cell-cultures, following tuberculin stimulation. In majority of the BCG vaccinated children, the stimulation of specific TH1 cells seem to be considerably high, in short-term in vitro cultures. While these responses were not so marked in the unvaccinated, they were almost totally absent in the patients.

Beta2-glycoprotein I dependent anticardiolipin antibodies and lupus anticoagulant in patients with recurrent pregnancy loss.

AIM: The present study was aimed to define the incidence of antiphospholipid antibodies of different types lupus anticoagulant (LAC), venereal disease research laboratory test (VDRL) and Beta2-glycoprotein I dependent anticardiolipin antibodies Beta2 I aCL) in our cohort of population experiencing recurrent pregnancy loss (RPL) from Andhra Pradesh, South India. SETTING AND DESIGN: A referral case-control study at a tertiary centre over a period of 5 years. PARTICIPANTS: 150 couples experiencing 3 or more recurrent pregnancy losses with similar number of matched controls. MATERIAL AND METHODS: LAC activity was measured by the activated partial thromboplastin time (aPTT) according to the method of Proctor and Rapaport with relevant modifications. VDRL analysis was performed by the kit method supplied by Ranbaxy Diagnostics Limited and Beta2 Glycoprotein I dependent anticardiolipin antibodies were estimated by ELISA kit (ORGen Tech, GmbH, Germany) with human Beta2 Glycoprotein I as co-factor. STATISTICAL ANALYSIS: Statistical analysis was performed using Student's t test. RESULTS: LAC activity was found positive in 11 women (10.28%). The mean +/- SE Beta2 I aCL concentration in the study group was 14.53 (micro/ml) +/- 1.79 (range 0 to 90.4 micro/ml) which was higher than the control group with a mean +/- SE of 7.26 (micro/ml) +/- 0.40 (range 0 to 18 u/ml). The binding of the antibodies to the antigen was observed in 40.24% (n=33) of the cases compared to 6.09% (n=5) in controls. VDRL test was positive in 7(2.34%) individuals (3 couples and 1 male partner) and none among controls. CONCLUSIONS: The present study indicates the importance of antiphospholipid antibodies in women experiencing RPL and suggests the usefulness of screening for these antibodies as a mandatory routine for instituting efficient therapeutic regimens for a successful outcome of pregnancy.

Optimum age of a child for BCG vaccination.

The objectives of this study were to evaluate whether a newborn or a neonate is capable of responding immunologically after BCG vaccination and to find out if this immunity persists for one year. Normal infants aged between 0 days-3 months brought to immunization centre were included in the study. In vitro leukocyte migration inhibition test was performed in these children using Phytohemagglutinin and purified protein derivative (PPD). They were grouped based on their age at vaccination, their LMI values and on the time interval after vaccination. The mean values of % LMI (PPD) in all the age groups were positive and there were no significant differences between the newborns, the neonates and other groups. The values were positive and comparable even after 12 months in all the groups. The percentage of infants with positive or negative values to LMI (PHA) and negative values to LMI (PPD) were also comparable at different time intervals in different age groups. The results suggest that newborns or neonates are as capable of eliciting a positive immune response after BCG vaccination, as older infants and the practise of vaccinating a child at birth could be continued.