Determination of cut-off of diagnostic ELISA for Scrub typhus in endemic setup: Central India.

Serology remains the mainstay for diagnosis of scrub typhus. In central India, diagnosis of this neglected emerging zoonotic disease suffers due to lack of standardized region-specific cutoff value and diagnostic test. Henceforth, standardized region-specific cutoff value for diagnostic ELISA play a significant role in initial treatment of patients and to differentiate other febrile diseases in endemic setup. A total of 144 patients of all age groups with acute undifferentiated febrile illness patients, forty healthy controls, dengue and chikungunya positive thirty-five samples in each category, respectively were enrolled in the study and subjected to IgM ELISA (InBioS, International, Inc.). Samples showing OD value more than 0.5 in IgM ELISA, were subjected to nested PCR. Both, receiver operating characteristic (ROC) curve and healthy volunteer samples mean with +3 SD were considered to generate region specific cutoff OD value. A total of 48 patients were diagnosed as cases of scrub typhus through IgM ELISA. Out of 48 samples, 30 were positive by nested PCR. The ROC curve analysis revealed a diagnostic ELISA cutoff value of 0.73 with sensitivity and specificity of 95% and 100%, respectively. The cut off arrived from healthy volunteer is mean OD + 3 SD is 0.72. Considering the significance of scrub typhus diagnosis for treatment and to understand disease dynamics in region wise, the cutoff value of >0.72 for diagnostic ELISA for Madhya Pradesh in central India can be used.

Noninvasive prenatal testing (NIPT) detects variant of Turner syndrome not detectable by fluorescent in situ hybridization.

Introduction: Noninvasive prenatal testing (NIPT) is a reliable screening method for fetal aneuploidy detection of trisomy 18, 13, 21 along with few sex chromosome abnormalities monosomy X, XXX, XXY (Klinefelter), XYY (Jacob) syndromes and certain microdeletions which include cri-du-chat, DiGeorge, 1p36, Angelman, and Prader-Willi syndromes in comparison to the available screening methods. Prenatal screening of Turners syndrome is possible by ultrasound in certain conditions only. Recently benefits of early detection and treatment of Turners syndrome has been emphasized, enforcing on accurate and early screening prenatally.Case details: The current case emphasizes on the reliability of NIPT testing which comes with an advantage of early screening. A 24-year-old primi gravida was referred for NIPT as she tested for high risk on biochemical screening. The Panorama™ NIPT results showed low risk for trisomies, 21, 18, and 13 but high risk of monosomy X and was advised confirmatory amniocentesis. The fluorescence in situ hybridization (FISH) report revealed no numerical abnormality detected for any of the five chromosomes tested. On receiving this discordant report, the sample was rerun for NIPT, to rule out any laboratory-related issues. The result obtained on a rerun was consistent with the first report and showed monosomy X again. The karyotype report was available three weeks later and a rare variant of Turners syndrome was identified.Discussion: Panorama™ NIPT considers single nucleotide polymorphisms spread across the chromosomes for analysis, different variants of aneuploidy can be picked up in comparison to FISH, similar to the current case wherein it could not as it was a centromeric probe. Reported first case of X chromosome variant detected by NIPT confirmed by karyotyping, missed by FISH.

Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report.

Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive error of purine metabolism resulting in the generation of 2,8-dihydroxyadenine (DHA), a highly insoluble metabolite of adenine, which can cause radiolucent urolithiasis. This is the second case of DHA stone being reported in India and the first case in India to document the mutation of the APRT gene on blood DNA analysis.

Influence of premolar extraction or non-extraction orthodontic therapy on the angular changes of mandibular third molars.

AIM: To compare the angular changes of the third molars relative to the occlusal plane and to the second molar long axis in extraction group and compare these changes with a non extraction group. MATERIALS AND METHODS: The study included pre and post treatment panoramic radiograph records of 90 subjects treated by first premolar extractions and 90 subjects who had been treated with non extraction orthodontic therapy (n = 90). Two angular variables were measured. Firstly, the angle between the long axis of the third molar and the occlusal plane (M3-OP) and secondly, the angle between the long axis of the third molar and the long axis of the second molar (M3-M2). Data were analyzed by paired and student's t-test. RESULT: The analyzed data to assess the changes in the third molar angulation from pretreatment to post treatment did not vary significantly in both the groups (p < 0.05). Both the groups showed decreased angular values. The M3-OP angular difference was (-7.3 ± 2.45) in extraction group as compared to (-5.85 ± 1.77) in non extraction group. The M3-M2 angular difference of (-4.26 ± 3.11) in extraction group and (-2.98 ± 1.74) in non-extraction group was observed. CONCLUSION: Extraction of premolars did not demonstrate considerable changes on the angulation of the third molars. The factors other than premolar extractions may influence the angulation of the third molars.

Incidentally detected clear cell renal cell carcinoma with rhabdoid differentiation.

Renal cell carcinoma with rhabdoid differentiation (RCC-R) has an aggressive biologic behavior and poor prognosis. A recent consensus statement of the International Society of Urological Pathology (ISUP) proposed a nucleolar grading system (ISUP grade) for RCC to replace Fuhrman system and recommended reporting the presence of rhabdoid differentiation and considering tumors with rhabdoid differentiation to be ISUP Grade 4. We report a case of incidentally detected clear cell RCC-R in a 52-year-old man. This is one of the earliest cases of RCC-R (pT1b) detected and first such case from Indian subcontinent.

A Rare Coexistence of Bilateral Congenital Wilms Tumor with Ductal Plate Malformation at Autopsy.

Congenital Wilms tumor is a tumor of childhood. Here we present an unusual case of bilateral congenital Wilms tumor with associated ductal plate malformation. In addition, there was also associated oligohydramnios, pulmonary hypoplasia, and multiple skeletal anomalies in this index case. Although various syndromic associations of Wilms tumor are well described in the literature, an association of congenital Wilms tumor with ductal plate malformation, polysplenia, and skeletal malformations is not reported. We believe that this is the first reported case of such an association.

Mucinous eccrine carcinoma of the eyelid: re-emphasizing the need for awareness of rare lesions.

We report here the case of a man presenting with mucinous eccrine carcinoma (MEC) involving eyelid. This is a rare adencocarcinoma of the skin that originates from the deepest portion of eccrine sweat duct. The aim of our paper is to underline the importance of distinguishing MEC from metastatic carcinomas of the skin, making clinicians aware that what seems to be a harmless benign lesion may be a malignant one.

Leiomyosarcoma of the vagina: A rare entity with comprehensive review of the literature.

Primary malignant lesions of the vagina are uncommon, and vaginal sarcomas are even rarer. We describe a rare case of stage I, high-grade leiomyosarcoma of the vagina treated with combined modality treatment. A 39-year-old female presented with vaginal mass and underwent resection. Histopathological examination revealed atypical leiomyoma of the vagina with definite risk of recurrence. Eleven months later, she presented with a recurrent vaginal mass and underwent exploratory laparotomy with total abdominal hysterectomy and bilateral salpingo-oophorectomy plus resection of recurrent tumor and partial vaginectomy. The detailed histopathological examination was suggestive of leiomyosarcoma of the vagina. The patient received adjuvant radiotherapy and chemotherapy. The patient is alive and disease-free 29 months postsurgery. Experience with vaginal leiomyosarcomas is limited. The optimal treatment methods have not yet been established because of the rarity of the tumor. We add another case of leiomyosarcoma of the vagina to the limited existing literature.

Laparoscopic management of a hydatid cyst of the adrenal gland.

Hydatid disease is endemic in parts of India, yet genitourinary involvement is rare. Laparoscopic management of such cases is uncommonly reported. We present a case of an adrenal hydatid and its management by laparoscopic aspiration, instillation of scolicidal solution, and partial excision of the cyst.

Recurrence of ANCA-negative renal-limited pauci-immune glomerulonephritis in the renal allograft.

Renal transplantation is the treatment of choice for end-stage renal disease (ESRD) due to pauci-immune crescentic glomerulonephritis (PICGN). A small subgroup of patients with PICGN are anti-neutrophil cytoplasmic antibody (ANCA) negative. We report a case of a patient with ANCA-negative renal-limited form of PICGN who developed ESRD despite treatment. He underwent live-related renal allograft transplantation after 12 months on haemodialysis. In the eighth post-transplant month, he developed graft dysfunction, which on evaluation turned out to be a graft recurrence of the basic disease in the form of PICGN. He received treatment with methylprednisolone, cyclophosphamide and plasmapheresis. However, his renal functions did not improve and he developed graft loss in the 11th post-transplant month and was started on continuous ambulatory peritoneal dialysis. We report a rare recurrence of renal-limited PICGN in the allograft. Patients with PICGN undergoing renal transplantation should be followed up carefully, and an early biopsy should be performed in the case of graft dysfunction to deal with this potentially graft-threatening complication.

Nuclear expression of ß-catenin and stem cell markers as potential prognostic indicators in medulloblastoma.

AIMS: To study the prognostic role of ß-catenin and stem cell markers in medulloblastoma (MB). MATERIALS AND METHODS: Sixty cases of MB were retrospectively analyzed to study the expression of ß-catenin, CD15, and CD133 by immunohistochemistry. Their expression was correlated with histological subtypes and event-free survival (EFS). Patients were divided into Group 1 and 2 based on non-occurrence and occurrence of events during the follow-up period. RESULTS: Fifty of the 60 cases were of classic type of MB while nine were of desmoplastic subtype and one case showed chondroid and rhabdomyoblastic differentiation. Immunoreactivity for ß-catenin was observed as nuclear and/or cytoplasmic positivity within the tumor cells. Forty-one (68.3%) cases showed cytoplasmic positivity, while nuclear positivity was seen in 21 (35%) cases. There was a significant correlation between nuclear expression of ß-catenin and different histological subtypes by Chi-square test (P value<0.05). A statistically significant positive correlation of ß-catenin nuclear positivity with EFS was observed. Among 60 cases, 37 cases (67.3%) showed presence of CD15+ tumor cells with percentage of positivity varying between 0.1 to 17.1%. Overall, 42 of 60 (70%) cases showed presence of CD133+ cells. The percentage of positivity varied between 0.1 to 16.5%. A statistically significant negative correlation of CD15 and CD133 positivity with EFS was observed. CONCLUSIONS: Nucleopositive ß-catenin cases were associated with a favorable outcome on univariate analysis. Both CD15 and CD133 positivity were associated with a worse outcome on univariate analysis.