Publications by authors named "Kim Vaiphei"

196 Publications

The need to look beyond ANXA5 & apelin in pre-eclamptic placenta.

Authors:
Kim Vaiphei

Indian J Med Res 2021 06;154(6):768-769

Department of Histopathology, Post Graduate Institute of Medical Education & Research, Chandigarh 160 012, India.

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http://dx.doi.org/10.4103/ijmr.ijmr_751_22DOI Listing
June 2021

Contrast-enhanced ultrasound of solid pancreatic head lesions: a prospective study.

Eur Radiol 2022 May 19. Epub 2022 May 19.

Department of Radiodiagnosis and Imaging, PGIMER, Chandigarh, India.

Objective: To evaluate the role of contrast-enhanced ultrasound (CEUS) in the differential diagnosis of solid pancreatic head lesions (SPHL).

Methods: This prospective study comprised consecutive patients with SPHL who underwent CEUS evaluation of the pancreas. Findings recorded at CEUS were enhancement patterns (degree, completeness, centripetal enhancement, and percentage enhancement) and presence of central vessels. In addition, time to peak (TTP) and washout time (WT) were recorded. The final diagnosis was based on histopathology or cytology. Multivariate analysis was performed to identify parameters that were significantly associated with pancreatic ductal adenocarcinoma (PDAC).

Results: Ninety-eight patients (median age 53.8 years, 59 males) were evaluated. The final diagnosis was PDAC (n = 64, 65.3%), inflammatory mass (n = 16, 16.3%), neuroendocrine tumor (NET, n = 14, 14.3%), and other tumors (n = 4, 4.1%). Hypoenhancement, incomplete enhancement, and centripetal enhancement were significantly more common in PDAC than non-PDAC lesions (p = 0.001, p = 0.031, and p = 0.002, respectively). Central vessels were present in a significantly greater number of non-PDAC lesions (p = 0.0001). Hypoenhancement with < 30% enhancement at CEUS had sensitivity and specificity of 80.6% and 67.7%, respectively, for PDAC. There was no significant difference in the TTP and WT between PDAC and non - PDAC lesions. However, the WT was significantly shorter in PDAC compared to NET (p = 0.011). In multivariate analysis, lack of central vessels was significantly associated with a PDAC diagnosis.

Conclusion: CEUS is a useful tool for the evaluation of SPHL. CEUS can be incorporated into the diagnostic algorithm to differentiate PDAC from non-PDAC lesions.

Key Points: • Hypoenhancement and incomplete enhancement at CEUS were significantly more common in PDAC than in non-PDAC. • Central vessels at CEUS were significantly associated with PDAC. • There was no difference in TTP and WT between PDAC and non-PDAC lesions.
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http://dx.doi.org/10.1007/s00330-022-08854-9DOI Listing
May 2022

Outcomes after lung resection in renal transplant patients with pulmonary mucormycosis.

Clin Transplant 2022 Apr 27:e14689. Epub 2022 Apr 27.

Department of Renal Transplant Surgery, Postgraduate Institute of Medical Research and Education, Chandigarh, India.

Background: Pulmonary mucormycosis has been associated with high mortality (reported up to 100%) in renal transplant recipients.

Methods: This was a retrospective analysis of renal transplant patients with pulmonary mucormycosis between April 2014 and March 2020, who underwent surgical resection of the affected lung along with liposomal amphotericin therapy. Patients with lower respiratory illness features underwent chest X-ray, high-resolution computed tomography of the chest, and those with suspicious findings underwent analysis of bronchioloalveolar fluid and transbronchial lung biopsy. Patients with histological or microbiological evidence of mucormycosis were started on liposomal Amphotericin B. Tacrolimus and mycophenolate mofetil were stopped at the time of diagnosis.

Result: Ten patients underwent combined management, while five patients were managed medically. At last follow up, seven out of ten patients (70%) who underwent combined management and two of the five patients (40%) who were managed medically, had a mean survival of 28.86 months (sd = 15.71, median = 25) and 14.17 months (sd = 12.21, median = 18), respectively, post-diagnosis of pulmonary mucormycosis.

Conclusion: Surgical resection combined with antifungals in the perioperative period and decreased immunosuppression may improve the outcomes in renal transplant patients with pulmonary mucormycosis.
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http://dx.doi.org/10.1111/ctr.14689DOI Listing
April 2022

Colon Cancer in Ulcerative Colitis: A Mimicker of a Flare of Disease.

Inflamm Bowel Dis 2022 Mar 1. Epub 2022 Mar 1.

Department of Gastroenterology, Posgraduate Institute of Medical Education and Research, Chandigarh, India.

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http://dx.doi.org/10.1093/ibd/izac033DOI Listing
March 2022

Early Initiation of Temozolomide Therapy May Improve Response in Aggressive Pituitary Adenomas.

Front Endocrinol (Lausanne) 2021 17;12:774686. Epub 2021 Dec 17.

Department of Neurosurgery, PGIMER, Chandigarh, India.

Introduction: Aggressive pituitary adenomas (APAs) are, by definition, resistant to optimal multimodality therapy. The challenge lies in their early recognition and timely management. Temozolomide is increasingly being used in patients with APAs, but evidence supporting a favorable response with early initiation is lacking.

Methods: This was a single-center study of all patients with APAs who received at least 3 cycles of temozolomide (150-200 mg/m). Their baseline clinico-biochemical and radiological profiles were recorded. Immunohistochemical evaluation for cell-cycle markers O-methylguanine-DNA methyltransferase (MGMT), MutS homolog 2 (MSH2), MutS homolog 6 (MSH6), MutL homolog 1 (MLH1), and postmeiotic segregation increased 2 (PMS2) was performed, and -scores (product of the number of positive cells and staining intensity) were calculated. Response was assessed in terms of radiological response using the RECIST criteria. Patients with controlled disease (≥30% reduction in tumor volume) were classified as responders.

Results: The study comprised 35 patients (48.6% acromegaly, 37.1% prolactinomas, and 14.3% non-functioning pituitary adenomas). The median number of temozolomide (TMZ) cycles was 9 (IQR 6-14). Responders constituted 68.6% of the cohort and were more likely to have functional tumors, a lower percentage of MGMT-positive staining cells, and lower MGMT -scores. There was a significantly longer lag period in the initiation of TMZ therapy in non-responders as compared with responders (median 36 . 15 months,  = 0.01). ROC-derived cutoffs of 31 months for the duration between diagnosis and TMZ initiation, low-to-intermediate MGMT positivity (40% tumor cells), and MGMT -score of 80 all had a sensitivity exceeding 80% and a specificity exceeding 70% to predict response.

Conclusion: Early initiation of TMZ therapy, functional tumors, and low MGMT -score predict a favorable response to TMZ in APAs.
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http://dx.doi.org/10.3389/fendo.2021.774686DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8718901PMC
February 2022

A Case of Esophageal Mucormycosis.

Am J Gastroenterol 2022 02;117(2):355

Department of Histopathology, Post Graduate Institute of Medical Education and Research Chandigarh, Chandigarh, India.

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http://dx.doi.org/10.14309/ajg.0000000000001592DOI Listing
February 2022

Cerebrospinal fluid cytology in a toddler with a posterior fossa space-occupying lesion.

Cytopathology 2022 01 4;33(1):153-156. Epub 2021 Oct 4.

Department of Pathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

An atypical teratoid rhabdoid tumour (AT/RT) is an extremely rare malignant neoplasm. Cerebrospinal fluid (CSF) involvement at presentation indicates intracranial dissemination and is associated with an aggressive course and worse outcomes. We present the characteristic cytomorphological features of AT/RT in the cerebrospinal fluid from a toddler presenting with a posterior fossa space-occupying lesion.
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http://dx.doi.org/10.1111/cyt.13062DOI Listing
January 2022

Neuroendocrine tumour of the gallbladder.

Lancet Oncol 2021 08;22(8):e377

Department of Hepatology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

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http://dx.doi.org/10.1016/S1470-2045(21)00198-4DOI Listing
August 2021

Management of Helicobacter pylori infection: The Bhubaneswar Consensus Report of the Indian Society of Gastroenterology.

Indian J Gastroenterol 2021 Aug 5;40(4):420-444. Epub 2021 Jul 5.

Department of Surgery, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, 605 006, India.

The Indian Society of Gastroenterology (ISG) felt the need to organize a consensus on Helicobacter pylori (H. pylori) infection and to update the current management of H. pylori infection; hence, ISG constituted the ISG's Task Force on Helicobacter pylori. The Task Force on H. pylori undertook an exercise to produce consensus statements on H. pylori infection. Twenty-five experts from different parts of India, including gastroenterologists, pathologists, surgeons, epidemiologists, pediatricians, and microbiologists participated in the meeting. The participants were allocated to one of following sections for the meeting: Epidemiology of H. pylori infection in India and H. pylori associated conditions; diagnosis; treatment and retreatment; H. pylori and gastric cancer, and H. pylori prevention/public health. Each group reviewed all published literature on H. pylori infection with special reference to the Indian scenario and prepared appropriate statements on different aspects for voting and consensus development. This consensus, which was produced through a modified Delphi process including two rounds of face-to-face meetings, reflects our current understanding and recommendations for the diagnosis and management of H. pylori infection. These consensus should serve as a reference for not only guiding treatment of H. pylori infection but also to guide future research on the subject.
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http://dx.doi.org/10.1007/s12664-021-01186-4DOI Listing
August 2021

Best practices of handling, processing, and interpretation of small intestinal biopsies for the diagnosis and management of celiac disease: A joint consensus of Indian association of pathologists and microbiologists and Indian society of gastroenterology.

Indian J Pathol Microbiol 2021 Jun;64(Supplement):S8-S31

Department of Pathology, MLN Medical College, Allahabad, Uttar Pradesh, India.

The Indian Association of Pathologists and Microbiologists (IAPM) and Indian Society of Gastroenterology (ISG) decided to make a joint consensus recommendation for handling, processing, and interpretation of SI biopsies for the diagnosis and management of celiac disease (CD) recognizing the inhomogeneous practice of biopsy sampling, orientation, processing, and interpretation. A modified Delphi process was used to develop this consensus document containing a total of 42 statements and recommendations, which were generated by sharing the document draft, incorporating expert's opinion, followed by three cycles of electronic voting as well as a full-day face-to-face virtual ZOOM meeting and review of supporting literature. Of the 42 statements, 7 statements are on small intestinal (SI) biopsy in suspected patients of CD, site and the number of biopsies; 7 on handling, fixative, orientation, processing, and sectioning in pathology laboratories; 2 on histological orientation; 13 statements on histological interpretation and histological grading; 3 on the assessment of follow-up biopsies; 2 statements on gluten-free diet (GFD)-nonresponsive CD; 4 on challenges in the diagnosis of CD; 2 statements each on pathology reporting protocol and training and infrastructure in this area. The goal of this guideline document is to formulate a uniform protocol agreed upon both by the experienced pathologists and gastroenterologists to standardize the practice, improve the yield of small bowel biopsy interpretation, patients' compliance, overall management in CD, and generate unified data for patient care and research in the related field.
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http://dx.doi.org/10.4103/IJPM.IJPM_1405_20DOI Listing
June 2021

Strongyloides Stercoralis in Acute Severe Ulcerative Colitis-A Triggering Nuisance or An Opportunistic Bystander?

Inflamm Bowel Dis 2021 Oct;27(10):e128-e129

Department of Gastroenterology, Post Graduate Institute of Medical Education & Research, Chandigarh,India.

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http://dx.doi.org/10.1093/ibd/izab119DOI Listing
October 2021

Coexistence of Osteomalacia in Osteoporotic Hip Fractures in More Than 50 Years Age Group.

Indian J Orthop 2021 Jun 15;55(3):614-620. Epub 2021 Jan 15.

Department of Endocrinology, PGIMER, Chandigarh, 160012 India.

Introduction: Osteomalacia is a hitherto common orthopaedic condition and is commonly coexists with osteoporosis. However, the identification of osteomalacia always slips under the radar and more emphasis is given to diagnosis and management of osteoporosis. Identification of osteomalacia is equally relevant as management of the osteoporotic fractures is different with or without osteomalacia.

Methods: This was a prospective study design that included patients 50 years or above of either sex presented with proximal femur fractures. Osteoporosis was identified by DEXA scan of hip and lumbar spine. Metabolic tests including serum calcium, phosphorus, ALP and vitamin D levels were done. Histopathological diagnosis of osteomalacia was performed on bony tissues that were taken during surgery from a site adjacent to the fracture and histological examination was performed on non-decalcified paraffin sections using special stains.

Results: A total of 45 patients was included in study. Mean age was 68.7 years (53-85 years). Abnormal values of serum calcium, phosphorus, ALP, vitamin D were noted in 44.4%, 22.2%, 53.3% and 48.9% patients, respectively. On histopathology, 73.17% patients showed osteomalacia. No significant correlation was found between serum biochemical markers and histopathology except with serum Vitamin D ( value - 0.004).

Conclusion: The majority of patients with osteoporotic hip fractures had coexisting osteomalacia. Abnormal biochemical values were not significantly associated with osteomalacia. Hence, histopathology remains the gold standard for the diagnosis of osteomalacia. Further research is needed to identify a biomarker that may enable the clinician to diagnosis and treat osteomalacia well in time.
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http://dx.doi.org/10.1007/s43465-020-00323-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8081808PMC
June 2021

Primary signet-ring cell carcinoma of the urinary bladder.

Autops Case Rep 2021 Apr 22;11:e2021264. Epub 2021 Apr 22.

Post Graduate Institute of Medical Education and Research, Department of Pathology, Chandigarh, India.

Primary signet-ring cell carcinoma of the urinary bladder is a rare tumor. The overall incidence is approximately 0.12-0.6% of all urinary bladder malignancies. The majority of the patients present in an advanced stage with a uniformly grim prognosis. As signet-ring cell carcinomas are more common in the gastrointestinal tract, a possibility of metastasis needs to be considered. Here we report, a 42-year-old patient who presented with hematuria and was diagnosed with a urinary bladder tumor. The patient was managed with partial cystectomy and pelvic lymph node dissection. The histopathological examination confirmed primary signet-ring cell carcinoma of the urinary bladder.
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http://dx.doi.org/10.4322/acr.2021.264DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8087395PMC
April 2021

Posterior pituitary tumours: patient outcomes and determinants of disease recurrence or persistence.

Endocr Connect 2021 Apr;10(4):387-400

Department of Endocrinology, Postgraduate Institute of Medical Education and Research, (PGIMER), Chandigarh, India.

Objective: Posterior pituitary tumours (PPTs) are rare neoplasms with the four recognised subtypes unified by thyroid transcription factor -1 (TTF-1) expression, according to the 2017 WHO classification. Though traditionally defined as low-grade neoplasms, a substantial proportion of them show recurrence/persistence following surgery.

Methods: We selected patients with PPTs in our cohort of 1760 patients operated for pituitary tumours over the past 10 years (2010-2019). The clinical, radiological, hormonal, histopathological profiles and long-term outcomes of the three cases identified (two pituicytomas and one spindle cell oncocytoma, SCO) were analysed. Following a literature review, data of all published cases with documented TTF-1 positive pituicytomas and SCOs were analysed to determine the predictors of recurrence/persistence in these tumours.

Results: Patients presented with compressive features or hypogonadism. Two had sellar-suprasellar masses. One had a purely suprasellar mass with a pre-operative radiological suspicion of pituicytoma. Two were operated by transsphenoidal surgery and one transcranially guided by neuronavigation. Histopathology confirmed spindle cells in a storiform arrangement and low Ki67 index. Immunohistochemistry showed positive TTF-1, S-100 expression and variable positivity for EMA, vimentin and GFAP. Re-evaluation showed recurrence/persistence in two patients. A literature review of recurrent/persistent pituicytoma (n = 17) and SCO (n = 9) cases revealed clinical clues (headache for pituicytomas, male gender for SCO), baseline tumour size (≥20.5 mm with sensitivity exceeding 80%) and longer follow-up duration as determinants of recurrence/persistence.

Conclusion: PPTs are rare sellar masses with quintessential TTF-1 positivity. Recurrent/persistent disease following surgery is determined by greater tumour size at baseline and duration of follow-up. This warrants intensive and long-term surveillance in these patients.
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http://dx.doi.org/10.1530/EC-20-0621DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8142326PMC
April 2021

Expression of miR-18a-5p, miR-144-3p, and miR-663b in colorectal cancer and their association with cholesterol homeostasis.

J Steroid Biochem Mol Biol 2021 04 16;208:105822. Epub 2021 Jan 16.

Department of Biochemistry, Panjab University, Sector-25, Chandigarh, 160014, India. Electronic address:

Objective: Though cholesterol accumulation is an established hallmark of a tumor cell, the relationship between the two is still not clear. Previously, we identified 3-Hydroxy-3-Methylglutaryl-CoA Reductase (HMGCR), Sterol Regulatory Element BindingTranscription Factor 2 (SREBF2), Nuclear Receptor Subfamily 1 Group H Member 3 (NR1H3), and Nuclear Receptor Subfamily 1 Group H Member 2 (NR1H2) as the key cholesterol homeostasis genes involved in colorectal cancer (CRC). In the present study, we aimed to identify microRNAs regulating these key genes in CRC.

Methods: miR-18a-5p, miR-144-3p, and miR-663b were selected as the miRNAs targeting NR1H2, HMGCR, and SREBF2, respectively, based on the bioinformatic prediction tools and literature review. Their expression was evaluated in the local and The Cancer Genome Atlas (TCGA) cohorts. Receiver Operating Characteristic Curves and Kaplan Meier analysis were performed to elucidate their diagnostic and prognostic potential. Pearson or Spearman's correlations were used to evaluate the relationship between miRNAs and their target genes. Protein-protein interaction networks and Gene Ontology analyses were performed to investigate the potential molecular mechanism of these miRNAs.

Results: Deregulated expression of miR-18a-5p, miR-144-3p, and miR-663b was associated with various clinicopathological features. miR-18a-5p exhibited an inverse correlation with NR1H2. miR-18a-5p and miR-144-3p also had a significant direct correlation with miR-33a-5p, an important modulator of cholesterol homeostasis. These miRNAs also exhibited high centrality in the mirna-protein interaction network. miR-144-3p and miR-663b exhibited the potential to be used as diagnostic biomarkers.

Conclusions: miR-18a-5p and miR-144-3p exhibited the potential to modulate cholesterol homeostasis in CRC. miR-663b is an interesting candidate in CRC pathophysiology.
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http://dx.doi.org/10.1016/j.jsbmb.2021.105822DOI Listing
April 2021

Hemophagocytic Lymphohistiocytosis in Children with Chronic Granulomatous Disease-Single-Center Experience from North India.

J Allergy Clin Immunol Pract 2021 02 28;9(2):771-782.e3. Epub 2020 Nov 28.

Pediatric Allergy and Immunology Unit, Advanced Pediatrics Centre, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Background: Chronic granulomatous disease (CGD) is an inherited defect in components of the nicotinamide adenine dinucleotide phosphate oxidase complex that results in potential life-threatening infective and noninfective complications. Hemophagocytic lymphohistiocytosis (HLH) is an unusual but important inflammatory complication of CGD. Optimal management strategies have not yet been identified in children with CGD who develop HLH.

Objective: To analyze clinical and laboratory features of HLH in CGD from a tertiary-care center in North India.

Methods: A retrospective review of medical records of children with CGD diagnosed in the last 20 years was performed. Clinical and laboratory features of children with CGD who developed HLH were analyzed.

Results: Of 80 patients diagnosed with CGD, 5 (6.25%) had evidence of HLH. All 5 were males; 4 had X-linked CGD and 1 had autosomal recessive CGD (NCF2 defect). Two children with CGD had HLH as the predominant presenting manifestation mimicking the clinical presentation of congenital HLH. Infectious triggers identified were bloodstream infections (n = 3) (Candida albicans, Burkholderia cenocepacia, Francisella noatuensis), pneumonia (n = 4), and splenic abscess (n = 1). We document the first human infection with a fish pathogen, F. noatuensis, in a child with X-linked CGD. Although mortality was seen in 3 children who received only intravenous (IV) immunoglobulin therapy, the other 2 who received IV methylprednisolone pulse therapy survived.

Conclusion: HLH can be a presenting manifestation of CGD, and workup for CGD must be considered in children with HLH. Early recognition with optimal management of both infectious trigger and HLH is very important to prevent mortality.
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http://dx.doi.org/10.1016/j.jaip.2020.11.041DOI Listing
February 2021

Comparison of virtual computed tomography enteroscopy using carbon dioxide with small-bowel enteroclysis and capsule endoscopy in patients with small-bowel tuberculosis.

Eur Radiol 2021 May 4;31(5):3297-3305. Epub 2020 Nov 4.

Department of Radiology, Wake Forest University School of Medicine, NC, 27101, Winston-Salem, USA.

Objective: Comparison of virtual CT enteroscopy (VCTE) using carbon dioxide with small-bowel enteroclysis (SBE) and capsule endoscopy (CE) in small-bowel tuberculosis (SBTB).

Methods: This prospective study comprised consecutive patients suspected to have SBTB. VCTE and SBE were performed on the same day and evaluated by independent radiologists. CE was performed within 2 weeks. VCTE was performed following insufflation of carbon dioxide via catheters in the jejunum and anorectum. A contrast-enhanced CT was followed by a delayed non-contrast CT. Image processing was done using virtual colonoscopy software. Findings on VCTE, SBE, and CE were compared. The final diagnosis of SBTB was based on either histopathological or cytological findings, response to antitubercular treatment, or a combination of these.

Results: Of the 55 patients in whom VCTE was performed, complete data was available in 52 patients. A final diagnosis of SBTB was established in 37 patients. All patients had VCTE and SBE. CE was performed in 34 patients. Adequate luminal distension was achieved in all patients with SBE and 35 patients with VCTE. SBE showed more strictures in jejunum (10.8%) and ileum (75.7%) compared with VCTE (jejunum, 8.1%, and ileum, 64.9%) and CE (jejunum, 5.9%, and ileum, 61.8%). However, difference was not statistically significant. VCTE revealed a greater length of strictures in both the jejunum and ileum compared with SBE and CE.

Conclusion: VCTE allows adequate evaluation of the bowel in most patients with SBTB. It allows detection of greater length of abnormality in jejunum and ileum compared with SBE and CE.

Key Points: • The use of VCTE using CO bowel insufflation in patients with SBTB should be considered. • VCTE allows detection of a greater length of abnormality in the jejunum and ileum.
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http://dx.doi.org/10.1007/s00330-020-07410-7DOI Listing
May 2021

Giant Phyllodes Tumor in Ectopic Breast Tissue.

J Indian Assoc Pediatr Surg 2020 Jul-Aug;25(4):251-253. Epub 2020 Jun 24.

Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Breast masses are uncommon in children and adolescents. Ectopic breast tissue is further uncommon and may be present in locations such as the face, back, and thigh. A 12-year-old female child presented with a hard, nonmobile lump in the right breast. On exploration by submammary incision, the lump was found to be below the pectoralis major muscle and had no communication with the overlying orthotopic breast tissue. Histopathological examination revealed a well-encapsulated biphasic lesion, with features characteristic of a phyllodes tumor. We report a hitherto unreported case of aberrant breast tissue lying under the pectoralis muscle and containing phyllodes tumor.
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http://dx.doi.org/10.4103/jiaps.JIAPS_137_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7478275PMC
June 2020

Gummatous Syphilis: A Rare Entity Mimicking Carcinoma Penis.

Urology 2020 Dec 1;146:e8-e9. Epub 2020 Sep 1.

Department of Histopathology, PGIMER, Chandigarh, India.

Objective: To describe a rare case of gummatous syphilis of the penis with urethrocutaneous fistula mimicking penile carcinoma causing a diagnostic dilemma.

Method: A 54 year old man presented with an ulcerative lesion on glans penis. Patient was managed with partial penectomy in view of erosive growth giving rise to urethrocutaneous fistula.

Results: Histopathology showed granulation tissue, necrotizing vasculitis and epithelioid cell granuloma. Immunohistochemistry stained positive for Treponema and patient was treated accordingly.

Conclusion: Syphilis is rarely encountered in daily clinical practice in the penicillin era. Despite a negative serology and the clinical picture highly suggestive of malignancy, the histopathology helped in clinching the rare diagnosis.
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http://dx.doi.org/10.1016/j.urology.2020.08.034DOI Listing
December 2020

Utility of narrow band imaging in predicting histology in celiac disease.

Indian J Gastroenterol 2020 08 23;39(4):370-376. Epub 2020 Jul 23.

Department of Gastroenterology, Postgraduate Institute of Medical Education and Research, Chandigarh 160 012, India.

Background: Narrow band imaging (NBI) with magnification better visualizes the duodenal microsurface and mucosal vascularity. NBI delineates villous atrophy better than conventional white light endoscopy.

Aims: This study was conducted to evaluate the diagnostic accuracy of narrow band imaging with magnification (NBI-ME) in celiac disease (CD).

Methods: In this prospective study, consecutive patients of suspected CD and controls were subjected to tissue transglutaminase antibody test and endoscopic evaluation initially with white light followed by NBI-ME, and biopsies were taken from duodenum. Duodenal villous patterns on NBI were interpreted as normal, blunted distorted, and absent. Severity of villous atrophy was reported according to the modified Marsh criteria.

Results: One hundred and twenty-two patients (mean age of 27.53 ± 13.37 years and a male to female ratio of 1:1.26) and 40 controls were studied. The sensitivity and specificity of NBI-ME in predicting villous atrophy were found to be 95.54% and 90%, respectively. The specificity and negative predictive value of NBI-ME in predicting villous atrophy amongst controls was 100% and 97.5%, respectively. Abnormal findings (blunted and absent villous patterns) combined with elevated transglutaminase antibody (> 5-fold) were found to have high accuracy in predicting villous atrophy.

Conclusion: NBI with magnification has high sensitivity and specificity in predicting villous atrophy in patients with celiac disease.
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http://dx.doi.org/10.1007/s12664-020-01030-1DOI Listing
August 2020

Pulmonary Recurrence of Lymphomatoid Granulomatosis Diagnosed on F-18 FDG PET/CT.

Indian J Nucl Med 2020 Apr-Jun;35(2):167-169. Epub 2020 Mar 12.

Department of Nuclear Medicine, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Lymphomatoid granulomatosis (LYG) is a rare, extranodal B-cell lymphoproliferative disorder. The disease commonly presents with nonspecific symptoms and imaging features, making the diagnosis and therapeutic response assessment difficult. While histopathology is the mainstay of diagnosis, different imaging modalities such as computed tomography (CT), magnetic resonance imaging, or F18-fluorodeoxyglucose positron emission tomography/computed tomography (F-18 FDG PET/CT) can help in identifying the different organs involved. We present a case of LYG, post chemotherapy in remission for the past 5 years, presenting with symptoms of disease recurrence.
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http://dx.doi.org/10.4103/ijnm.IJNM_174_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7182321PMC
March 2020

Wolfram syndrome: clinical and genetic profiling of a cohort from a tertiary care centre with characterization of the primary gonadal failure.

Endocrine 2020 08 29;69(2):420-429. Epub 2020 Apr 29.

Department of Endocrinology, PGIMER, Chandigarh, India.

Background: Wolfram syndrome (WFS) is a rare, monogenic neurodegenerative syndrome characterised by insulin requiring non-autoimmune diabetes mellitus (DM) and optic atrophy which are usually the earliest and commonest manifestations. However, there are other features which are under-recognized, adding to morbidity and premature mortality in these patients.

Methods: Five patients (three males, two females) with genetically confirmed WFS at a single tertiary care centre were prospectively followed up. Their symptomatology, clinical profile, genetic analysis and radiology were analyzed. Multidisciplinary approach was used for comprehensive clinical care of this cohort. Patients with primary gonadal failure were subjected to biopsy and immunohistochemistry (IHC) for wolframin was performed.

Results: DM was the earliest presenting manifestation at 6.2 ± 1.3 years followed by optic atrophy at 10.4 ± 2.3 years, diabetes insipidus at 12 ± 2.1 years and deafness at 12.8 ± 2.1 years. All patients were autoantibody negative with low C-peptide(<0.6 ng/ml). Hypoglycemic episodes were frequent (upto 60%) but there was no instance of diabetic ketoacidosis. Optic atrophy was present alongwith proliferative diabetic retinopathy and cataract in 40%. Uncommon manifestations included neuropsychiatric features, parasuicide, cystopathy, brainstem atrophy and hypergonadotropic hypogonadism only in adult males (n = 2). Testicular biopsy revealed partly hyalinised seminiferous tubules and prominence of Leydig cells. IHC confirmed the presence of mutated wolframin, which was not significantly different from normal testis specimen on protein quantification.

Conclusions: WFS requires a multidisciplinary approach with special emphasis on early diagnosis and management of other endocrine and non-endocrine features so as to improve long-term outcomes. Gonadal functions need periodic assessment, especially in adult males.
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http://dx.doi.org/10.1007/s12020-020-02320-6DOI Listing
August 2020

Abdominal tuberculosis in children: A real-world experience of 218 cases from an endemic region.

JGH Open 2020 Apr 20;4(2):215-220. Epub 2019 Aug 20.

Department of Microbiology Post Graduate Institute of Medical Education and Research Chandigarh India.

Background And Aim: Abdominal tuberculosis (ATB) in children poses a diagnostic challenge because of its nonspecific clinical features, which often delay the diagnosis. Our aim was to present our real-world experience and provide an insight into the presentation, pattern of distribution, and diagnosis of the disease.

Methods: A retrospective review was conducted of case records of all children ≤12 years of age diagnosed with ATB from January 2007 to January 2018. Clinical details and investigations were recorded and analyzed.

Results: A total of 218 children (110 boys), with a median age of 10 (0.25-12) years, were included. There was a median delay of 4 (0.5-36) months in establishing the diagnosis. Abdominal pain, fever, and loss of weight were the most common presenting features, with the triad of symptoms present in 54%. Multiple intra-abdominal sites were involved in 118 (54%) patients, with a combination of the gastrointestinal tract (I) and abdominal lymph nodes (L) being the most common (53/118). Among children with single-site involvement ( = 100), the most commonly involved was L in 39 (39%), followed by I in 35(35%). Loss of weight was more common in children with involvement of multiple sites (85/118 60/100, = 0.03). Overall, a confirmed diagnosis was possible in 94 participants (43.1%). Suggestive imaging had the highest diagnostic yield of 85%. Nine (4.1%) patients needed surgical management.

Conclusion: A triad of abdominal pain, fever, and weight loss is suggestive of ATB. Multiple intra-abdominal sites are frequently involved. Microbiological confirmation is possible in only one-third of the cases.
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http://dx.doi.org/10.1002/jgh3.12245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7144780PMC
April 2020

LC-HRMS based approach to identify novel sphingolipid biomarkers in breast cancer patients.

Sci Rep 2020 03 13;10(1):4668. Epub 2020 Mar 13.

Department of Biochemistry, Panjab University, Chandigarh, India.

Perturbations in lipid metabolic pathways to meet the bioenergetic and biosynthetic requirements is a principal characteristic of cancer cells. Sphingolipids (SPLs) are the largest class of bioactive lipids associated to various aspects of tumorigenesis and have been extensively studied in cancer cell lines and experimental models. The clinical relevance of SPLs in human malignancies however is still poorly understood and needs further investigation. In the present study, we adopted a UHPLC-High resolution (orbitrap) Mass spectrometry (HRMS) approach to identify various sphingolipid species in breast cancer patients. A total of 49 SPLs falling into 6 subcategories have been identified. Further, integrating the multivariate analysis with metabolomics enabled us to identify an elevation in the levels of ceramide phosphates and sphingosine phosphates in tumor tissues as compared to adjacent normal tissues. The expression of genes involved in the synthesis of reported metabolites was also determined in local as well as TCGA cohort. A significant upregulation in the expression of CERK and SPHK1 was observed in tumor tissues in local and TCGA cohort. Sphingomyelin levels were found to be high in adjacent normal tissues. Consistent with the above findings, expression of SGMS1 in tumor tissues was downregulated in TCGA cohort only. Clinical correlations of the selected metabolites and their performance as biomarkers was also evaluated. Significant ROC and positive correlation with Ki67 index highlight the diagnostic potential and clinical relevance of ceramide phosphates in breast cancer.
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http://dx.doi.org/10.1038/s41598-020-61283-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7070000PMC
March 2020

Primary mesenteric neuroendocrine tumour with liver metastasis: a common presentation of an uncommon tumour.

Trop Doct 2020 Jan 17;50(1):65-68. Epub 2019 Nov 17.

Professor, Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Neuroendocrine tumours (NET) are rare. They usually arise from the gastrointestinal or bronchopulmonary systems. Most are discovered incidentally and the small bowel tumours pose special difficulty in detection and treatment. Primary mesenteric involvement is very rare. Here we report such a case with a liver metastasis. This was preoperatively diagnosed and treated by enucleation of the mesenteric tumour together with right hepatectomy in a single sitting.
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http://dx.doi.org/10.1177/0049475519887657DOI Listing
January 2020

Effect of gluten-free diet and compliance on quality of life in pediatric celiac disease patients.

JGH Open 2019 Oct 27;3(5):388-393. Epub 2019 Mar 27.

Department of Gastroenterology Postgraduate Institute of Medical Education and Research Chandigarh India.

Background: Quality of life (QOL) in children with celiac disease (CD) has been sparsely studied.

Aims: We aimed to study QOL in pediatric CD and the effect of a gluten-free diet (GFD) in a North Indian population.

Methods: QOL was assessed at baseline and 6 months after GFD using a pediatric symptom checklist (PSC) score. The effect of GFD was assessed using a CD-specific questionnaire on domains such as dietary compliance, parental behavior and perceptions, children's feeling, and difficulty identifying gluten-free foods.

Results: A total of 60 CD children (age 6.03 ± 0. 42 years, range: 2-12 years, M:F 2:1) were prospectively enrolled. The median PSC score at baseline was 11.5 (2-35), which showed a statistically significant improvement after GFD to 2.5 (0-34) ( < 0.001). Significant concerns regarding specific domains emerged: difficulty in maintaining GFD 26.2%, at school 14.3%, at parties 43.2%, poor taste 11.4%, special diet a burden 28.5%, felt left out at school or friend's home 40.9%, felt different from other kids 40.9%, felt embarrassed to bring GFD to parties 54.6%, felt angry about following a special diet 56.8%, felt not invited out for meals because of CD 13.6%, and difficulty determining if food available was gluten free in 75%.

Conclusion: GFD has a significant impact on emotional, behavioral, and psychosocial domains in children with CD. Proper labeling of commercially available food items, counseling, and patient support groups are the need of the hour.
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http://dx.doi.org/10.1002/jgh3.12172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6788369PMC
October 2019

An interesting cause of chronic abdominal pain in a child.

Trop Doct 2020 Jan 17;50(1):63-64. Epub 2019 Sep 17.

Professor and Head, Division of Paediatric Gastroenterology, PGIMER, Chandigarh, India.

We encountered an eight-year-old boy who was subsequently diagnosed with a retroperitoneal ganglioneuroma. In view of the rarity of this tumour and its presentation, we are prompted to report this case.
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http://dx.doi.org/10.1177/0049475519876422DOI Listing
January 2020

Idiopathic gigantomastia: newer mechanistic insights implicating the paracrine milieu.

Endocrine 2019 11 9;66(2):166-177. Epub 2019 Sep 9.

Department of Plastic surgery, PGIMER, Chandigarh, India.

Purpose: Gigantomastia refers to pathological breast enlargement usually occurring in the peripubertal or peripartum period. Idiopathic gigantomastia, however, is a rare entity with hypotheses citing local expression of hormones and growth factors in causing this disease, none of which have been systemically analysed. The purpose of this study was to delve deeper into the mechanistic pathways causing this condition.

Methods: Herein, we describe three patients of idiopathic gigantomastia, all of whom had had normal puberty and uneventful pregnancies. Further, one of the patients had postmenopausal gigantomastia which is extremely rare, with only four cases described in the literature. Serum markers of autoimmunity, incriminated hormones and growth factors analysed, were normal in all the cases. Breast tissue specimens were subjected to histopathological examination and immunohistochemistry for ER, PR and Her-2-Neu. Quantitative immunofluorescence for aromatase, IGF2, EGFR, TGF-β, PDGFR-α, β, IGF1 and PTHrP was also performed.

Results: Of these, the tissue expression of aromatase, IGF2, EGFR, TGF-β, PDGFR-α and β were found to be upregulated, whereas IGF1 and PTHrP were comparable to normal breast.

Conclusion: This observation that paracrine overexpression of these factors is responsible for the pathogenesis of apparently idiopathic gigantomastia may have therapeutic ramifications in the future for patients with this debilitating condition.
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http://dx.doi.org/10.1007/s12020-019-02065-xDOI Listing
November 2019

Primary pleural liposarcoma: A rare entity.

Lung India 2019 Sep-Oct;36(5):438-440

Department of Radiodiagnosis, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Primary pleural liposarcoma (PPL) is a rare malignant tumor of the pleura. The diagnosis of PPL may be suspected on chest imaging based on radiologic features such as large pleural mass showing areas of fat with or without calcification. Herein, we present the case of a 32-year-old male whose contrast-enhanced computed tomography scan of the chest revealed a large, heterogeneous, hypodense, right pleural-based mass with small areas of fat and calcification within it. An ultrasound-guided biopsy was performed, which confirmed the diagnosis of a myxoid variant of pleural liposarcoma.
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http://dx.doi.org/10.4103/lungindia.lungindia_246_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6710966PMC
August 2019

Intracranial Germinoma Masquerading as Secondary Granulomatous Hypophysitis: A Case Report and Review of Literature.

Neuroendocrinology 2020 4;110(5):422-429. Epub 2019 Jul 4.

Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India,

Germinomas are highly immunogenic tumors eliciting a strong peri-tumoral immune response that can spillover into the surrounding healthy tissues. This phenomenon can also occur in intracranial germinomas, manifesting as secondary hypophysitis. Herein, we report a case of 12-year-old-girl presenting with polyuria and polydispsia. She had central diabetes insipidus (CDI) and panhypopituitarism. Imaging revealed a sellar-suprasellar mass with infundibular stalk thickening. Transphenoidal biopsy revealed epithelioid granulomas with immunostaining negative for germinomatous cells. Other causes of hypophysitis were ruled out. Accordingly, she was diagnosed as primary granulomatous hypophysitis and treated with high-dose corticosteroids. Three years later she again presented with headache, vomiting and diminution of vision. Imaging showed a heterogeneous, solid-cystic peripheral rim-enhancing lesion at the same location with involvement of hypothalamus, ependyma and pineal gland. Cerebrospinal fluid beta-human chorionic gonadotropin was markedly elevated, confirming the diagnosis of an intracranial germ cell tumor. She was started on chemotherapy; however, she succumbed to febrile neutropenia. We performed a literature search and found 18 anecdotal cases of secondary hypophysitis associated with intracranial germinomas. There was a slight male preponderance (male:female 5:4). Two-thirds of the cases were below 18 years of age. Polyuria was the most common presenting manifestation (83%). CDI and panhypopituitarism were seen in 89 and 78% cases, respectively. Imaging evidence of pituitary stalk thickening was seen in 12 cases (67%), while pituitary enlargement and/or sellar mass were reported in 11 cases (61%). Pineal involvement was extremely rare, being reported in only 1 case, implying the predilection of suprasellar (rather than pineal) germinomas in causing secondary hypophysitis. Histologically, 82% had lymphocytic hypophysitis, while 18% had granulomatous hypophysitis. Initially, the diagnosis of germinoma was missed in 60% of the cases who were wrongly treated with corticosteroids. To conclude, physicians should make it a dictum that all children and adolescents presenting with CDI and pituitary stalk thickening should be rigorously screened for an underlying intracranial germinoma before labeling them as primary hypophysitis.
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http://dx.doi.org/10.1159/000501886DOI Listing
February 2021
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