Chronic Myeloid Leukaemia Presented with Extreme Isolated Thrombocytosis

2021 ◽  
Vol 5 (02) ◽  
pp. 73-76
Author(s):  
Salina Haque ◽  
Zulfia Zinat Chowdhury ◽  
Tamanna Bahar ◽  
A K M Mynul Islam ◽  
Mohammad Ali ◽  
...  
Keyword(s):  
Lower Abdominal Pain ◽  
Myeloproliferative Disease ◽  
Chest Tightness ◽  
Rt Pcr ◽  
Reverse Transcription Pcr ◽  
Mild Leucocytosis ◽  
Mild Anaemia ◽  
History Of ◽  
Abdominal Examination ◽  
Complete Haematological Response

CML presenting with isolated extreme thrombocytosis is rare. We reported a 47 years old man who presented with history of right sided lower abdominal pain, vomiting, significant lethargy and chest tightness. Patient was mildly anaemic and abdominal examination revealed no organomegaly. On investigation, he was found to have extreme thrombocytosis (2050x109/L) and mild leucocytosis (31.7 x109/L) with mild anaemia. In view of extreme thrombocytosis, he was investigated for myeloproliferative disease especially essential thrombocythemia. He was found to be positive for BCR-ABL by reverse transcription PCR (RT-PCR) and negative for JAK2, CALR, MPL mutations. Ultimately, he was diagnosed as a case of CML with an atypical presentation. He received imatinib 400 mg/day and achieve complete haematological response at 15 days.

scholarly journals HYDATIDIFORM MOLE IN A VIRGIN: A CASE REPORT

2013 ◽  
Vol 1 (4) ◽  
Author(s):  
Shehu CE ◽  
Panti AA ◽  
Ukwu AE ◽  
Adoke AU
Keyword(s):  
Vaginal Bleeding ◽  
Hydatidiform Mole ◽  
Lower Abdominal Pain ◽  
Pelvic Mass ◽  
Rare Occurrence ◽  
Complete Hydatidiform Mole ◽  
History Of ◽  
Abdominal Examination ◽  
Altered Blood

Virginity, for females, is defined by an intact hymen. Pregnancy in the presence of an intact hymen is a rare occurrence. We report a case of hydatidiform mole in a 26 year old single lady with intact hymen. She presented with three months history of amenorrhea, lower abdominal pain, vaginal bleeding with passage of vesicles. The patient denied any history of penetrative sexual intercourse but volunteered a history of two episodes of intense romance with her boyfriend with resultant ejaculation of semen on her thighs. A pelvic mass of about 22 weeks size, without discernible fetal parts was palpable on abdominal examination while pelvic examination revealed a normal vulva and vagina smeared with altered blood, with an intact hymenal ring. She had suction evacuation and histology confirmed complete hydatidiform mole. The hymen was torn during the procedure and she is on follow up. The intention of this report is to alert clinicians that an abnormal, premalignant tumour can be a complication of pregnancy in a virgin. Intact hymen, pregnancy, hydatidiform mole Keywords

Detection of Nucleic Acids in Cells or Tissue Sections Using In situ Polymerase Chain Reaction (PCR)

1996 ◽  
Vol 54 ◽  
pp. 16-17
Author(s):  
J. R. Hully ◽  
K. R. Luehrsen ◽  
K. Aoyagi ◽  
C. Shoemaker ◽  
R. Abramson
Keyword(s):  
Nucleic Acids ◽  
Viral Infections ◽  
Anatomical Location ◽  
Rt Pcr ◽  
Reverse Transcription Pcr ◽  
Cellular Source ◽  
Gene Transcripts ◽  
Initial Description ◽  
In Cells

The development of PCR technology has greatly accelerated medical research at the genetic and molecular levels. Until recently, the inherent sensitivity of this technique has been limited to isolated preparations of nucleic acids which lack or at best have limited morphological information. With the obvious exception of cell lines, traditional PCR or reverse transcription-PCR (RT-PCR) cannot identify the cellular source of the amplified product. In contrast, in situ hybridization (ISH) by definition, defines the anatomical location of a gene and/or it’s product. However, this technique lacks the sensitivity of PCR and cannot routinely detect less than 10 to 20 copies per cell. Consequently, the localization of rare transcripts, latent viral infections, foreign or altered genes cannot be identified by this technique. In situ PCR or in situ RT-PCR is a combination of the two techniques, exploiting the sensitivity of PCR and the anatomical definition provided by ISH. Since it’s initial description considerable advances have been made in the application of in situ PCR, improvements in protocols, and the development of hardware dedicated to in situ PCR using conventional microscope slides. Our understanding of the importance of viral latency or viral burden in regards to HIV, HPV, and KSHV infections has benefited from this technique, enabling detection of single viral copies in cells or tissue otherwise thought to be normal. Clearly, this technique will be useful tool in pathobiology especially carcinogenesis, gene therapy and manipulations, the study of rare gene transcripts, and forensics.

scholarly journals Reassortment of Genome Segments Creates Stable Lineages Among Strains of Orchid Fleck Virus Infecting Citrus in Mexico

2020 ◽  
Vol 110 (1) ◽  
pp. 106-120 ◽  
Author(s):  
Avijit Roy ◽  
Andrew L. Stone ◽  
Gabriel Otero-Colina ◽  
Gang Wei ◽  
Ronald H. Brlansky ◽  
...  
Keyword(s):  
High Throughput Sequencing ◽  
Sensu Stricto ◽  
Genome Segment ◽  
Rt Pcr ◽  
Sequence Comparisons ◽  
Orchid Fleck Virus ◽  
Reverse Transcription Pcr ◽  
Sequencing Technologies ◽  
Negative Sense

The genus Dichorhavirus contains viruses with bipartite, negative-sense, single-stranded RNA genomes that are transmitted by flat mites to hosts that include orchids, coffee, the genus Clerodendrum, and citrus. A dichorhavirus infecting citrus in Mexico is classified as a citrus strain of orchid fleck virus (OFV-Cit). We previously used RNA sequencing technologies on OFV-Cit samples from Mexico to develop an OFV-Cit–specific reverse transcription PCR (RT-PCR) assay. During assay validation, OFV-Cit–specific RT-PCR failed to produce an amplicon from some samples with clear symptoms of OFV-Cit. Characterization of this virus revealed that dichorhavirus-like particles were found in the nucleus. High-throughput sequencing of small RNAs from these citrus plants revealed a novel citrus strain of OFV, OFV-Cit2. Sequence comparisons with known orchid and citrus strains of OFV showed variation in the protein products encoded by genome segment 1 (RNA1). Strains of OFV clustered together based on host of origin, whether orchid or citrus, and were clearly separated from other dichorhaviruses described from infected citrus in Brazil. The variation in RNA1 between the original (now OFV-Cit1) and the new (OFV-Cit2) strain was not observed with genome segment 2 (RNA2), but instead, a common RNA2 molecule was shared among strains of OFV-Cit1 and -Cit2, a situation strikingly similar to OFV infecting orchids. We also collected mites at the affected groves, identified them as Brevipalpus californicus sensu stricto, and confirmed that they were infected by OFV-Cit1 or with both OFV-Cit1 and -Cit2. OFV-Cit1 and -Cit2 have coexisted at the same site in Toliman, Queretaro, Mexico since 2012. OFV strain-specific diagnostic tests were developed.

scholarly journals “Old wine in a new bottle” - post COVID-19 infection, central serous chorioretinopathy and the steroids

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Srinivasan Sanjay ◽  
Poornachandra B. Gowda ◽  
Bhimasena Rao ◽  
Deepashri Mutalik ◽  
Padmamalini Mahendradas ◽  
...  
Keyword(s):  
Virus Disease ◽  
Anterior Segment ◽  
Central Serous Retinopathy ◽  
Oral Antibiotics ◽  
Rt Pcr ◽  
Case Presentation ◽  
Ocular Manifestations ◽  
Corrected Distance Visual Acuity ◽  
History Of ◽  
The Right

Abstract Introduction Corona virus disease (COVID-19) pandemic can cause myriad of ocular manifestations. We report a case of unilateral multi focal central serous retinopathy, post COVID-19 infection in an Asian Indian female. Case presentation A 42-year-old female presented to us with unilateral blurring, in the right eye (OD), 12 days after COVID-19 infection. She had fever, chills, shortness of breath and cough with tiredness and was COVID- RT PCR positive. She was administered intravenous and oral antibiotics with injection heparin/remdesivir, during her 7 day stay at the hospital. She was also on steroid inhalers. She had no systemic history of note. On ocular evaluation, her corrected distance visual acuity was 20/40 in OD and 20/20 in left eye (OS). Anterior segment was normal. Anterior vitreous was clear. Fundus examination of the OD showed central serous retinopathy (CSCR) with OS being normal. Conclusion CSCR can occur post COVID-19 due to steroid administration and physicians administering it should be aware of this and refer the patients to an ophthalmologist earlier.

Comet and cup genes in Drosophila spermatogenesis: the first demonstration of post-meiotic transcription

2008 ◽  
Vol 36 (3) ◽  
pp. 540-542 ◽  
Author(s):  
Carine Barreau ◽  
Elizabeth Benson ◽  
Helen White-Cooper
Keyword(s):  
In Situ Hybridization ◽  
Expression Pattern ◽  
Reverse Transcription ◽  
Protein Product ◽  
Rt Pcr ◽  
Pcr Assay ◽  
Single Cyst ◽  
Reverse Transcription Pcr

Post-meiotic transcription is widespread in mammalian spermatogenesis, but is generally believed to be absent from Drosophila spermatogenesis. Genes required during meiosis, in early spermatids or later in spermiogenesis are typically transcribed in primary spermatocytes in Drosophila. Their mRNAs are then stored in the cytoplasm until the protein product is needed. Recently, using in situ hybridization, we identified 17 Drosophila genes, collectively named ‘comets’ and ‘cups’, whose mRNAs are most abundant in, and localize to the distal ends of, elongating spermatids. Using a single-cyst quantitative RT–PCR (reverse transcription–PCR) assay, we confirmed this unusual expression pattern and conclusively demonstrate the existence of post-meiotic transcription in Drosophila spermatids. We found that transcription of comets and cups occurs just before protamines can be detected in spermatid nuclei.

scholarly journals Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Raziyeh Khalesi ◽  
Ehsan Razmara ◽  
Golareh Asgaritarghi ◽  
Ali Reza Tavasoli ◽  
Yasser Riazalhosseini ◽  
...  
Keyword(s):  
Sanger Sequencing ◽  
Cerebral White Matter ◽  
Global Developmental Delay ◽  
Spastic Diplegia ◽  
Amplification Refractory Mutation System ◽  
Rt Pcr ◽  
Reverse Transcription Pcr ◽  
Mutation System ◽  
Warburg Micro Syndrome

Abstract Background The present study aimed to determine the underlying genetic factors causing the possible Warburg micro syndrome (WARBM) phenotype in two Iranian patients. Case presentation A 5-year-old female and a 4.5-year-old male were referred due to microcephaly, global developmental delay, and dysmorphic features. After doing neuroimaging and clinical examinations, due to the heterogeneity of neurodevelopmental disorders, we subjected 7 family members to whole-exome sequencing. Three candidate variants were confirmed by Sanger sequencing and allele frequency of each variant was also determined in 300 healthy ethnically matched people using the tetra-primer amplification refractory mutation system-PCR and PCR-restriction fragment length polymorphism. To show the splicing effects, reverse transcription-PCR (RT-PCR) and RT-qPCR were performed, followed by Sanger sequencing. A novel homozygous variant—NM_012233.2: c.151-5 T > G; p.(Gly51IlefsTer15)—in the RAB3GAP1 gene was identified as the most likely disease-causing variant. RT-PCR/RT-qPCR showed that this variant can activate a cryptic site of splicing in intron 3, changing the splicing and gene expression processes. We also identified some novel manifestations in association with WARBM type 1 to touch upon abnormal philtrum, prominent antitragus, downturned corners of the mouth, malaligned teeth, scrotal hypoplasia, low anterior hairline, hypertrichosis of upper back, spastic diplegia to quadriplegia, and cerebral white matter signal changes. Conclusions Due to the common phenotypes between WARBMs and Martsolf syndrome (MIM: 212720), we suggest using the “RABopathies” term that can in turn cover a broad range of manifestations. This study can per se increase the genotype-phenotype spectrum of WARBM type 1.

scholarly journals Concomitant hepatic tuberculosis and hepatocellular carcinoma: a case report and review of the literature

BMC Surgery ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hind S. Alsaif ◽  
Ali Hassan ◽  
Osamah Refai ◽  
Khaled Awary ◽  
Haitham Kussaibi ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Liver Malignancy ◽  
Ct Guided ◽  
Case Presentation ◽  
Hepatic Tuberculosis ◽  
Ct Guided Biopsy ◽  
History Of ◽  
Abdominal Examination ◽  
Peripheral Arterial ◽  
High Index Of Suspicion

Abstract Background Hepatocellular carcinoma (HCC) is the most common primary liver malignancy that is strongly associated with chronic liver disease. Isolated hepatic tuberculosis is an uncommon type of tuberculosis. Concomitant occurrence of both conditions is extremely rare. Case presentation We report the case of a 47-year-old man who presented with fever and abdominal pain for 3 months prior to presentation. He reported a history of anorexia and significant weight loss. Abdominal examination revealed a tender, enlarged liver. Abdominal computed tomography (CT) demonstrated a solid heterogeneous hepatic mass with peripheral arterial enhancement, but no venous washout, conferring a radiological impression of suspected cholangiocarcinoma. However, a CT-guided biopsy of the lesion resulted in the diagnosis of concomitant HCC and isolated hepatic tuberculosis. Conclusion A rapid increase in tumor size should draw attention to the possibility of a concomitant infectious process. Clinicians must have a high index of suspicion for tuberculosis, especially in patients from endemic areas, in order to initiate early and proper treatment.

Hypercalcaemia due to ovarian small cell carcinoma of the hypercalcaemic type

2021 ◽  
Vol 14 (7) ◽  
pp. e243571
Author(s):  
Annalisa Montebello ◽  
Mark Gruppetta
Keyword(s):  
Cell Carcinoma ◽  
Small Cell Carcinoma ◽  
Incidental Finding ◽  
Lower Abdominal Pain ◽  
Ovarian Tumour ◽  
Small Cell ◽  
Pelvic Radiotherapy ◽  
Wide Range ◽  
History Of ◽  
Parathyroid Hormone Related Peptide

A 37-year-old woman presented with a few days’ history of lower abdominal pain and an incidental finding of hypercalcaemia. A thorough workup ensued, and the cause was found to be an exceptionally rare ovarian tumour—ovarian small cell carcinoma of the hypercalcaemic type. Acute treatment of hypercalcaemia consisted of aggressive intravenous fluids and bisphosphonates. She underwent surgery to remove the tumour and is currently receiving systemic platinum/etoposide chemotherapy combination to be followed by pelvic radiotherapy. This case highlights the wide range of differential diagnosis for hypercalcaemia and the importance of a stepwise and thorough approach during investigations. We discuss the pathophysiology of malignancy-related hypercalcaemia, focusing especially on parathyroid hormone-related peptide-associated hypercalcaemia.

Extraovarian primary seromucinous cystadenoma masquerading as mesenteric cyst

2021 ◽  
Vol 14 (5) ◽  
pp. e240414
Author(s):  
Kishor R J ◽  
Bhuvaneshwari Harikrishnan ◽  
Naveen Alexander ◽  
Veena Bheeman
Keyword(s):  
Lower Abdominal Pain ◽  
Interesting Case ◽  
Mesenteric Cyst ◽  
Lumbar Region ◽  
Normal Limits ◽  
Mesenteric Border ◽  
Contrast Enhanced ◽  
Laparoscopic Excision ◽  
Abdominal Examination ◽  
The Right

We report an interesting case of extraovarian, primary seromucinous cystadenoma, which presented as a mesenteric cyst. A 31-year-old woman came with complaints of lower abdominal pain for 2 years, which is intermittent and aggravated during the menstrual cycle. On examination, her vitals were within normal limits; per abdominal examination revealed 7×7 cm mass in the right lumbar and right hypochondrium with well-defined margins. A Contrast-enhanced whole abdomen done showed a thin-walled of cyst of size 7×8×9 cm in the right lumbar region abutting and replacing the mesenteric border of ascending colon suggesting of mesenteric cyst. Patient underwent laparoscopic excision of mesenteric cyst. Histopathology revealed seromucinous cystadenoma without ovarian stroma.

Molecular and Cultures based Diagnosis of Infectious Bursal Disease Virus (IBDV) in Vaccinated and Non Vaccinated Poultry Flocks 

2021 ◽  
Author(s):  
Ritesh S. Shinde ◽  
Harshad C. Chauhan ◽  
Sandip S. Patel ◽  
Kishan Kumar Sharma ◽  
Arun C. Patel ◽  
...  
Keyword(s):  
Embryo Culture ◽  
Infectious Bursal Disease ◽  
Fibroblast Cells ◽  
Culture Result ◽  
Rt Pcr ◽  
Culture Methods ◽  
Bursal Disease ◽  
History Of ◽  
Chicken Fibroblast ◽  
Pooled Sample

Background: In recent years, Infectious bursal disease is continuously occurring even after vaccination in India and requires an inclusive diagnosis. Therefore, the present study was undertaken to diagnose IBD through molecular and culture methods. Methods: One pooled sample, from each of 54 flocks having birds with IBD like symptoms, was collected. History of bird type, age and vaccination was recorded. Samples were subjected to RT-PCR, egg embryo culture and chicken fibroblast cells culture. Result: A total of 49669 out of 517900 (9.59 %) of birds, aging 3-6 weeks, were displaying the signs similar to IBD.In RT-PCR, 21 (38.88%) samples were found positive which belonged to11 (52.38%) vaccinated and 10 (47.62%) unvaccinated flocks.The RT-PCR positive samples were successfully cultivated for the virus through egg embryo and cell culture. The CEF culture was found least sensitive compared to egg embryo culture and RT-PCR. 

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