Histological Variants of Leiomyoma: A Great Impersonator posing a Diagnostic Challenge - Three year Study in Delhi NCR

Background: Objectives: Uterine smooth muscle tumours are diagnostically challenging as well as scientifically intriguing with leiomyoma being the most common. On review of literature there are numerous studies on audit of hysterectomy specimens worldwide, however, studies focusing on detailed histopathologi cal analysis of leiomyomas are limited. Thereby, this study was conducted to identify the secondary changes as well as histological variants of leiomyoma, their frequency of occurrence and other associated clinicopathological factors Methods: A retrospecti ve audit of all the hysterectomy and myomectomy specimens was conducted over a period of 3 years (Jan 2016 to Dec 2018) comprising of a total of 155 cases with 388 leiomyomas (LM). The clinical details were retrieved, and histopathological slides reviewed for cellularity, mitosis, atypia, necrosis, any secondary changes or specific variants. Results: On histopathology, 19.1% LM showed degenerative changes and histologic variants were observed in 6.18% LM. Hyaline change was the most frequent degenerative ph enomenon in 82.43% (60/74) while cellular leiomyoma was the most common variant in 37.5% (9/24) LM. Conclusion: Certain histological variants make the differentiation from malignant tumors challenging. A thorough tissue sampling and strict adherence to histologic criteria coupled with a ncillary techniques like immunohistochemistry can help in excluding malignancy in most of the cases. Awareness regarding these is very important amongst youn g pathologists to avoid misdiagnosis and overtreatment leading to unwarranted stress to the patient.

Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India

Objective: To define the spectrum of genetic disorders in patients with short stature visiting the genetic out-patient department in a tertiary care hospital. Methods: A chart review was done for 455 individuals (10 months-16 yrs) with short stature, who were evaluated at the genetic clinic from 1 January, 2017 upto 31 October, 2018. 226 patients who needed detailed evaluation, the spectrum of genetic diagnosis is presented. Results: Proportionate short stature was identified in 63% individuals (n=142) of which 93 (65%) were recognizable syndromes such as Turner syndrome, and William syndrome, and RASopathies. In clinically undefined syndromes (39, 27%), a diagnosis could be made by karyotype (n=3/10), chromosomal microarray (6/12) and exome sequencing (1/6). In the 84 children in the disproportionate short stature group (37%), lysosomal storage disorders (LSDs) (45%, n=38) were identified by enzyme analysis in 86.8% and skeletal dysplasias (44%, n=37) identified by skeletal survey in 89% cases. Conclusions: In undefined syndromic short stature, chromosomal microarray may be the first investigation of choice if phenotyping is not suggestive of a specific genetic syndrome. Exome sequencing can be useful in identifying newer genes among idiopathic and familial short stature cohorts.

The effect and correlation of smoking with platelet indices, neutrophil lymphocyte ratio and platelet lymphocyte ratio

ABSTRACT Introduction: Smoking is associated with the occurrence and progression of cardiovascular diseases, inflammatory disorders and malignancies. Objective: To study the platelet indices, neutrophil lymphocyte ratio (NLR) and platelet lymphocyte ratio (PLR) in smokers and their correlation with smoking pack-years. Method: A total of 110 smokers and 110 non-smokers were included. The smokers were grouped into three groups: mild (<5 pack-years), moderate (5-10 pack-years) and heavy (>10 pack-years). The platelet count, plateletcrit (PCT), mean platelet volume (MPV) and platelet distribution width (PDW) were noted. The NLR and PLR were calculated and the statistical analysis was made using the Student's T-test, Analysis of Variance (ANOVA) and Spearman's correlation coefficient. Results: The platelet count, PCT and PDW were significantly higher with mean values: 218.56 ± 121.31 vs 203.23 ± 80.35 (p-value = 0.038), 0.27 ± 0.10 vs 0.26 ± 0.10 (p-value = 0.041) and 12.54 ± 1.45 vs 11.99 ± 1.70 (p-value = 0.001) in smokers and non-smokers, respectively. The PLR differed significantly with mean values: 119.40 ± 84.81 in smokers and 181.99 ± 313.09 in non-smokers, with a p-value of 0.045. A significant positive correlation was found between pack-years of smoking and platelet count and PLR with the Pearson correlation coefficient of 0.250 and 0.198 and p-values, 0.008 and 0.037, respectively. The Platelet Count, PCT, MPV and PDW varied significantly between mild, moderate and heavy smoker groups, with p-values of 0.045, 0.010, 0.015 and 0.017, respectively. Conclusion: The platelet indices and inflammatory markers NLR and PLR are derived from routine blood investigations, which are easily available and inexpensive. The monitoring of platelet indices, along with the PLR, can be used as early predictors of morbidity in smokers.

Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation

Walker Warburg syndrome (WWS) lies at the severe end of the spectrum of the congenital muscular dystrophies. WWS is a congenital disorder of the O-glycosylation that disrupts in the post-translation modification of dystroglycan proteins. WWS is characterized by the involvement of the central nervous system and rarely by multisystem involvement. Next-generation sequencing discovered that multiple genes are associated with this disorder. FKTN is the rarest cause of WWS. We describe a clinical-autopsy report of a molecularly- confirmed WWS case presenting with ventriculomegaly, agenesis of the corpus callosum with a novel phenotype of Dandy-Walker malformation and unilateral multi-cystic kidney. The whole-exome sequencing confirmed a homozygous variant (c.411C>A) in the FKTN gene with a premature termination codon. This case emphasizes the importance of detailed postnatal phenotyping through an autopsy in any pregnancy with antenatally identified malformations. Obstetricians, pediatricians as well as fetal medicine experts need to counsel the parents and focus on preserving the appropriate sample for genetic testing. WWS, though rare deserves testing especially in the presence of positive family history. Dandy-Walker malformation is a novel feature and expands the phenotypic spectrum.

A correlation between platelet indices and preeclampsia

ABSTRACT Background: Preeclampsia is one of the major health problems causing maternal morbidity and mortality, complicating 3-8% of pregnancies. It has been suggested that the alterations in the coagulation and fibrinolysis play a role in the pathogenesis of preeclampsia. The markers of platelet activation include platelet count, platelet distribution width, mean platelet volume and plateletcrit. Study design: It was a case-controlled study which included a total of 60 patients (30 cases and 30 controls). Blood samples were collected and the platelet indices - platelet count, plateletcrit, mean platelet volume and platelet distribution width - were evaluated using the Sysmex XN1000 and compared between the two groups. Results: The MPV and PDW also showed a significant difference (p > 0.05) between the two groups, with a significant positive correlation with increasing blood pressure (MPV - r = +0.6126, p < 0.05 and PDW - r = +0.6441, p < 0.05). The PC and PCT had lower values in the preeclampsia patients, however the difference between the two groups was not statistically significant. Conclusion: The MPV and PDW showed a significant difference between the two groups and increasing values with increasing BP. However, the PC and PCT in our study did not show a significant correlation with preeclampsia. Thus, the platelet indices, mainly the MPV and PDW, which are economical and easily available, can be reliable in the prediction and early diagnosis of preeclampsia, as well as a marker for the severity of preeclampsia.

Association of coagulation profile with microvascular complications and glycemic control in type 2 diabetes mellitus - a study at a tertiary care center in Delhi

Abstract Introduction Type 2 diabetes mellitus, characterized by insulin resistance, corresponds to approximately 90% of cases of diabetes worldwide. Hyperglycemia in diabetes contributes to hyperfibrinogenemia and activates the coagulation cascade thereby producing atherothrombotic events. Objectives This study was designed to evaluate the coagulation profile (activated partial thromboplastin time, prothrombin time and fibrinogen) in Type 2 diabetes and to analyze correlations between body mass index, fasting blood glucose, glycated hemoglobin and duration of diabetes with coagulation parameters. Methods This study included 60 type 2 diabetics and 30 controls. Diabetic patients were grouped in two sets based on the presence or absence of microvascular complications. The demographic profile and clinical details were recorded. Fasting blood glucose, glycated hemoglobin, coagulation parameters such as prothrombin time, activated partial thromboplastin time and fibrinogen along with other biochemical parameters were investigated. Results There were statistically significant differences in the coagulation parameters between the two groups of diabetics (with and without complications). The present study also found significant correlations between age and the duration of diabetes with and without complications and coagulation parameters such as the activated partial thromboplastin time, which was found to be significantly lower, and fibrinogen, which was found to be significantly higher in subjects with complications compared to subjects without complications. Conclusion Clinical tests for prothrombin time, activated partial thromboplastin time and fibrinogen are relatively inexpensive and readily available. The present study shows that shortened prothrombin time, activated partial thromboplastin time and increased fibrinogen levels might be useful hemostatic markers in diabetic patients, especially in those at high-risk for thrombotic complications.

Impacted mandibular third molar: Comparison of coronectomy with odontectomy

Damage to the inferior alveolar nerve (IAN) while extracting lower third molars is often caused by the intimate relationship between the nerve and the roots of the teeth. The aim of this study was to compare the sequelae of coronectomy with odontectomy in impacted mandibular third molars. Patients and Methods: This study included thirty patients which were divided into two groups, Group-I (test group) including 15 patients undergoing coronectomy and Group-2 (control group) of 15 patients undergoing odontectomy. Investigations included digital orthopantomogram. The parameters for this study included pain, swelling, nerve paresthesia, trismus, postoperative infection, postoperative wound dehiscence, postoperative pocket depth, and migration. Results: In Group-1 (coronectomy group), the patients underwent follow-up for 6 months to evaluate migration of the retained mandibular third molar root which was in proximity with the IAN. There was a mean increase in migration when the distance from the inferior border of IAN until the apex of the retained mandibular third molar root was measured which was by 3.43 mm after 6 months of follow up. Conclusion: On statistical analysis, the result in this study showed no statistical difference in both the groups in all the parameters that were taken.