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1.
Int J Mol Sci ; 24(5)2023 Feb 25.
Article in English | MEDLINE | ID: mdl-36901979

ABSTRACT

The outbreak of the coronavirus disease 2019 (COVID-19) pandemic, caused by novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has resulted in a global public health crisis, causing substantial concern especially to the pregnant population. Pregnant women infected with SARS-CoV-2 are at greater risk of devastating pregnancy complications such as premature delivery and stillbirth. Irrespective of the emerging reported cases of neonatal COVID-19, reassuringly, confirmatory evidence of vertical transmission is still lacking. The protective role of the placenta in limiting in utero spread of virus to the developing fetus is intriguing. The short- and long-term impact of maternal COVID-19 infection in the newborn remains an unresolved question. In this review, we explore the recent evidence of SARS-CoV-2 vertical transmission, cell-entry pathways, placental responses towards SARS-CoV-2 infection, and its potential effects on the offspring. We further discuss how the placenta serves as a defensive front against SARS-CoV-2 by exerting various cellular and molecular defense pathways. A better understanding of the placental barrier, immune defense, and modulation strategies involved in restricting transplacental transmission may provide valuable insights for future development of antiviral and immunomodulatory therapies to improve pregnancy outcomes.


Subject(s)
COVID-19 , Pregnancy Complications, Infectious , Infant, Newborn , Female , Pregnancy , Humans , SARS-CoV-2 , Placenta , Pregnancy Outcome , Infectious Disease Transmission, Vertical
2.
Int J Mol Sci ; 24(11)2023 Jun 02.
Article in English | MEDLINE | ID: mdl-37298606

ABSTRACT

The general notion of complete hydatidiform moles is that most of them consist entirely of paternal DNA; hence, they do not express p57, a paternally imprinted gene. This forms the basis for the diagnosis of hydatidiform moles. There are about 38 paternally imprinted genes. The aim of this study is to determine whether other paternally imprinted genes could also assist in the diagnostic approach of hydatidiform moles. This study comprised of 29 complete moles, 15 partial moles and 17 non-molar abortuses. Immunohistochemical study using the antibodies of paternal-imprinted (RB1, TSSC3 and DOG1) and maternal-imprinted (DNMT1 and GATA3) genes were performed. The antibodies' immunoreactivity was evaluated on various placental cell types, namely cytotrophoblasts, syncytiotrophoblasts, villous stromal cells, extravillous intermediate trophoblasts and decidual cells. TSSC3 and RB1 expression were observed in all cases of partial moles and non-molar abortuses. In contrast, their expression in complete moles was identified in 31% (TSSC3) and 10.3% (RB1), respectively (p < 0.0001). DOG1 was consistently negative in all cell types in all cases. The expressions of maternally imprinted genes were seen in all cases, except for one case of complete mole where GATA3 was negative. Both TSSC3 and RB1 could serve as a useful adjunct to p57 for the discrimination of complete moles from partial moles and non-molar abortuses, especially in laboratories that lack comprehensive molecular service and in cases where p57 staining is equivocal.


Subject(s)
Hydatidiform Mole , Moles , Animals , Female , Humans , Pregnancy , Antibodies/metabolism , Cyclin-Dependent Kinase Inhibitor p57/genetics , Cyclin-Dependent Kinase Inhibitor p57/metabolism , Hydatidiform Mole/diagnosis , Hydatidiform Mole/genetics , Immunohistochemistry , Moles/metabolism , Placenta/metabolism , Retinoblastoma Binding Proteins/metabolism , Ubiquitin-Protein Ligases/metabolism
3.
Pediatr Dev Pathol ; 25(5): 504-510, 2022.
Article in English | MEDLINE | ID: mdl-35488420

ABSTRACT

Desmoplastic small round cell tumor (DSRCT) is an aggressive pediatric round cell sarcoma containing a characteristic EWSR1-WT1 gene fusion. In the absence of genetic data, distinguishing DSRCT from other small round cell tumors of childhood can be problematic due to overlapping histologic and immunohistochemical features. We studied the utility of immunohistochemistry with antibodies targeting both the amino-terminal and carboxy-terminal regions of the Wilms tumor-1 (WT1) protein in differentiating these groups of tumors. The study cohort included 33 cases of genetically confirmed pediatric round cell tumors (10 DSRCTs, 12 Wilms tumors, 10 Ewing sarcomas, and 1 CIC-rearranged sarcoma). Immunoreactivities and immunolocalization of both the WT1 amino-terminus and carboxy-terminus were scored and documented. All DSRCTs displayed selective reactivity for only the WT1 carboxy-terminus (10/10), while dual immunoreactivity for both the WT1 carboxy-terminus (12/12) and amino-terminus antibodies (12/12) were characteristic of Wilms tumors. CIC-rearranged sarcoma showed variable WT1 nuclear immunopositivity (1/1, 1/1) and Ewing sarcomas were consistently WT1-negative for both the WT1 amino-terminus (0/10) and carboxy-terminus (0/10). Dual WT1 amino-terminus and carboxy-terminus immunohistochemistry remains a helpful diagnostic tool in discriminating intraabdominal small round cell tumors, which serves as an adjunct to the genetic information in preventing misdiagnosis.


Subject(s)
Bone Neoplasms , Desmoplastic Small Round Cell Tumor , Kidney Neoplasms , Sarcoma, Ewing , Sarcoma , Wilms Tumor , Biomarkers, Tumor/genetics , Bone Neoplasms/metabolism , Child , Desmoplastic Small Round Cell Tumor/diagnosis , Desmoplastic Small Round Cell Tumor/genetics , Desmoplastic Small Round Cell Tumor/pathology , Humans , Kidney Neoplasms/pathology , Oncogene Proteins, Fusion/genetics , Sarcoma/diagnosis , Sarcoma, Ewing/genetics , WT1 Proteins , Wilms Tumor/pathology
4.
Biol Res ; 55(1): 38, 2022 Dec 09.
Article in English | MEDLINE | ID: mdl-36494836

ABSTRACT

BACKGROUND: Excitotoxicity-induced in vivo injury models are vital to reflect the pathophysiological features of acute spinal cord injury (SCI) in humans. The duration and concentration of chemical treatment controls the extent of neuronal cell damage. The extent of injury is explained in relation to locomotor and behavioural activity. Several SCI in vivo methods have been reported and studied extensively, particularly contusion, compression, and transection models. These models depict similar pathophysiology to that in humans but are extremely expensive (contusion) and require expertise (compression). Chemical excitotoxicity-induced SCI models are simple and easy while producing similar clinical manifestations. The kainic acid (KA) excitotoxicity model is a convenient, low-cost, and highly reproducible animal model of SCI in the laboratory. The basic impactor approximately cost between 10,000 and 20,000 USD, while the kainic acid only cost between 300 and 500 USD, which is quite cheap as compared to traditional SCI method. METHODS: In this study, 0.05 mM KA was administered at dose of 10 µL/100 g body weight, at a rate of 10 µL/min, to induce spinal injury by intra-spinal injection between the T12 and T13 thoracic vertebrae. In this protocol, detailed description of a dorsal laminectomy was explained to expose the spinal cord, following intra-spinal kainic acid administration at desired location. The dose, rate and technique to administer kainic acid were explained extensively to reflect a successful paraplegia and spinal cord injury in rats. The postoperative care and complication post injury of paraplegic laboratory animals were also explained, and necessary requirements to overcome these complications were also described to help researcher. RESULTS: This injury model produced impaired hind limb locomotor function with mild seizure. Hence this protocol will help researchers to induce spinal cord injury in laboratories at extremely low cost and also will help to determine the necessary supplies, methods for producing SCI in rats and treatments designed to mitigate post-injury impairment. CONCLUSIONS: Kainic acid intra-spinal injection at the concentration of 0.05 mM, and rate 10 µL/min, is an effective method create spinal injury in rats, however more potent concentrations of kainic acid need to be studied in order to create severe spinal injuries.


Subject(s)
Spinal Cord Injuries , Spinal Injuries , Humans , Rats , Animals , Rats, Sprague-Dawley , Kainic Acid/therapeutic use , Paraplegia/complications , Spinal Injuries/complications , Disease Models, Animal
5.
Neuropathology ; 38(6): 619-623, 2018 Dec.
Article in English | MEDLINE | ID: mdl-30187570

ABSTRACT

Xanthomatous changes can be observed in various conditions including primary xanthomatosis that is linked to an underlying hypercholesterolemia and more commonly associated with secondary xanthomatous degenerative processes in neoplasm and chronic inflammation. Meningioma with extensive xanthomatous change is exceedingly rare. The presence of cholesterol clefts within this peculiar meningioma subtype has not been described. Herein, we report an unusual case of xanthomatous meningioma in an 83-year-old normolipidemic woman, who presented to us with worsening lower limb weakness and global aphasia. There was increasing evidence to suggest that the presence of xanthomatous changes in long-standing meningioma is merely a sequela of cellular degeneration rather than true metaplastic change as previously hypothesized. Hence, the diagnosis of "xanthomatous meningioma" in the metaplastic category should be revisited and considered as a distinct histological subtype. The possible histogenesis of such intriguing phenomenon is discussed with a review of the literature.


Subject(s)
Meningeal Neoplasms/pathology , Meningioma/pathology , Xanthomatosis/pathology , Aged, 80 and over , Female , Humans , Metaplasia
6.
Malays J Pathol ; 37(1): 49-52, 2015 Apr.
Article in English | MEDLINE | ID: mdl-25890614

ABSTRACT

Hurthle cells are not uncommonly encountered in thyroid fine needle aspiration cytology (FNAC) smears. They are easily recognized by their distinct cytomorphology in cytological preparations, i.e. large, polygonal cells displaying uniform, rounded nuclei, often prominent nucleoli and abundant granular cytoplasm. Hurthle cells can be seen in both non-neoplastic and neoplastic thyroid lesions which can pose diagnostic dilemma to cytopathologists, especially when the lesions are focally sampled. We describe a case of solitary thyroid nodule in a 46-year-old male, whose aspirates comprised predominantly of Hurthle cells exhibiting nuclear features suspicious of papillary carcinoma, which turned out to be Hurthle cell carcinoma on subsequent histological sections. The potential diagnostic pitfalls of Hurthle cell lesions and associated conditions in thyroid FNA are discussed. The presence of Hurthle cell change in a wide variety of thyroid lesions can be diagnostically challenging. However, accurate diagnosis can still be made with careful observation of the predominant cell population, nuclear features and whether there is abundant colloid or lymphocytes in the background.


Subject(s)
Adenoma, Oxyphilic/pathology , Biopsy, Fine-Needle , Carcinoma/pathology , Oxyphil Cells/pathology , Thyroid Neoplasms/pathology , Thyroid Nodule/pathology , Adenoma, Oxyphilic/chemistry , Adenoma, Oxyphilic/surgery , Biomarkers, Tumor/analysis , Carcinoma, Papillary , Diagnosis, Differential , Diagnostic Errors/prevention & control , Humans , Immunohistochemistry , Keratin-19/analysis , Male , Middle Aged , Oxyphil Cells/chemistry , Predictive Value of Tests , Thyroid Cancer, Papillary , Thyroid Neoplasms/chemistry , Thyroid Neoplasms/surgery , Thyroid Nodule/chemistry , Thyroid Nodule/surgery , Thyroidectomy
7.
Malays J Med Sci ; 22(1): 84-8, 2015.
Article in English | MEDLINE | ID: mdl-25892955

ABSTRACT

Pilomatricomas can be confidently diagnosed cytologically due to their characteristic cytomorphological features. However, these lesions are rarely encountered by cytopathologists and thus pose a diagnostic dilemma to even experienced individuals, especially when the lesions are focally sampled. We describe two cases of histologically confirmed pilomatricoma. The first case is of a 13-year-old boy with posterior cervical 'lymphadenopathy', and the second one is of a 12-year-old girl with a lower cheek swelling. Both aspirates comprised predominantly atypical basal-like cells, with prominent nucleoli. 'Ghost cells' were readily identified by cell block in case two, but cell block in case one yielded no diagnostic material. In case two, pilomatricoma was accurately diagnosed pre-operatively. A cytological suspicion of a neoplastic process was raised in case one. Despite being diagnostically challenging, pilomatricoma can be diagnosed with careful observation of two unique cytological features of the lesions: (1) pathognomonic 'ghost cells' and (2) irregular, saw-toothed, loosely cohesive basaloid cells, with prominent nucleoli. The role of thorough sampling of the lesion, with multiple passes of various sites, cannot be overemphasized.

8.
Malays J Med Sci ; 22(4): 76-80, 2015.
Article in English | MEDLINE | ID: mdl-26715912

ABSTRACT

Overexpression of beta-human chorionic gonadotropin (ß-hCG) is frequently associated with germ cell tumours, especially choriocarcinoma. Ectopic secretion of ß-hCG by non-small cell lung cancer is exceptional. We present an exceedingly rare case of pulmonary adenocarcinoma that secretes ß-hCG. Our patient is a 62-year-old postmenopausal woman, a nonsmoker, who presented with a six-month history of progressive dyspnoea, associated with decreased appetite and significant weight loss. Her serum ß-hCG was very high (11211.9 mIU/ml), which prompted investigations to exclude germ cell tumour. Radiological imaging revealed a 10-cm right lung mass with adrenal metastasis. No other focal lesions were detected. Microscopy of the lung biopsy specimen showed replacement of normal lung tissue by sheets of malignant cells, forming vague glands in some areas. Immunohistochemically, the malignant cells showed focal immunopositivity for thyroid transcription factor 1 (TTF-1), napsin A, cytokeratin 7 (CK7) and ß-hCG. A diagnosis of ß-hCG-secreting pulmonary poorly differentiated adenocarcinoma was rendered. Serum ß-hCG level decreased significantly to 168.6 mIU/ml after the first cycle of chemotherapy. In conclusion, ß-hCG expression in lung cancer should be recognised to facilitate prompt diagnosis and initiation of appropriate intervention.

9.
Pathol Int ; 64(7): 346-51, 2014 Jul.
Article in English | MEDLINE | ID: mdl-25047505

ABSTRACT

Dendritic fibromyxolipoma (DFML), a rare, recently described distinct benign soft tissue tumor, has many clinicopathological features reminiscent of spindle cell lipoma and solitary fibrous tumor with myxoid change. It is distinguished histologically from both entities by the presence of spindle and stellate cells with dendritic cytoplasmic prolongations, prominent myxoid stroma with abundant keloidal collagen and occasional small plexiform vascular proliferation. We describe a case of histologically confirmed DFML of the left shoulder in a 67-year-old male, in which subsequent cytogenetic analysis revealed deletion involving 13q14.3 region in all the tumor cells, typically detected in spindle cell lipoma. In the presence of many clinicopathological similarities between DFML and spindle cell lipoma including chromosomal abnormalities, we postulate that DFML is merely a rare variant of spindle cell lipoma with extensive myxoid degeneration, and may not be considered as a separate entity. The possible differential diagnosis and their distinguishing features are briefly discussed.


Subject(s)
Fibroma/pathology , Lipoma/pathology , Liposarcoma/pathology , Soft Tissue Neoplasms/pathology , Aged , Antigens, CD34/immunology , Biomarkers, Tumor/genetics , Chromosomes, Human, Pair 13 , Cytogenetic Analysis/methods , Diagnosis, Differential , Female , Fibroma/genetics , Fibroma/immunology , Humans , Lipoma/diagnosis , Lipoma/genetics , Lipoma/immunology , Liposarcoma/diagnosis , Liposarcoma/immunology , Male , Soft Tissue Neoplasms/diagnosis , Soft Tissue Neoplasms/genetics , Soft Tissue Neoplasms/immunology
10.
Malays J Pathol ; 36(2): 125-9, 2014 Aug.
Article in English | MEDLINE | ID: mdl-25194535

ABSTRACT

Follicular lymphoma is characterised by the t(14;18)(q32;q21) chromosomal translocation causing BCL2 protein overexpression. A proportion of follicular lymphomas do not carry the t(14;18) translocation and lacked BCL2 protein expression. We describe a case of a BCL2 protein- and t(14;18)-negative follicular lymphoma that caused diagnostic difficulty. The usefulness of several immunomarkers including Ki67, CD79a and CD21 in aiding the diagnosis is discussed. The patient is a 51-year-old male who presented with gradually enlarging lymphadenopathy. Histopathological examination of the lymph node showed complete architectural effacement by neoplastic follicles containing expanded CD21-positive follicular dendritic cell meshwork. The neoplastic cells expressed pan-B cell markers (CD20, CD79a) and germinal centre marker (BCL6) but not BCL2 and CD10. Of interest are the staining patterns of Ki67 and CD79a. We observed that the Ki67- positive proliferating cells were evenly distributed within the neoplastic follicles without zonation. In addition, CD79a was homogeneously strong within the neoplastic follicles. These staining patterns were distinctly different from that observed in reactive lymphoid follicles. Fluorescent insitu hybridisation (FISH) analysis however showed absence of BCL2 gene rearrangement. Despite the atypical immunophenotype and lack of BCL2 gene rearrangement, the diagnosis of follicular lymphoma was made based on careful observation of the morphology as well as immunoarchitecture of the Ki67, CD79a and CD21 markers.


Subject(s)
Biomarkers, Tumor/metabolism , CD79 Antigens/metabolism , Dendritic Cells/pathology , Ki-67 Antigen/metabolism , Lymphoma, Follicular/pathology , Chromosomes, Human, Pair 14 , Chromosomes, Human, Pair 18 , Dendritic Cells/metabolism , Humans , Immunophenotyping , Lymphoma, Follicular/genetics , Lymphoma, Follicular/metabolism , Male , Middle Aged , Neprilysin/metabolism
11.
Front Oncol ; 14: 1377074, 2024.
Article in English | MEDLINE | ID: mdl-38966061

ABSTRACT

Phyllodes tumours or cystosarcoma phyllodes are fibroepithelial tumours of the breast and represent 1% of breast tumours. A 20-year-old nullipara presented with an enlarging left breast mass over 6 months. Although widely excised, it was reported to be a 12 × 10 × 5.5-cm borderline phyllodes tumour with involvement of the superior and inferior margins. Seven months later, she presented with a new ipsilateral breast lump measuring 8.5 × 7.5 × 4.6 cm. She underwent a left mastectomy, a three-rib resection with titanic rods for the thoracic cage reconstruction, and a latissimus dorsi flap wound closure. Histopathology revealed a high-grade malignant phyllodes tumour with features of osteoid differentiation with the nearest deep margin measuring 3 mm. She developed metastasis to the ipsilateral axillary lymph nodes and contralateral lung 2 months postoperatively. She was given palliative radiotherapy 60 Gy in 30 fractions to the left axilla. She developed sudden lower-limb weakness due to spinal metastases. The symptoms resolved with radiotherapy to the thoracic spine (T4-T8). As the lesion continued to grow rapidly from the anterior chest wall encircling towards the back, it was deemed unresectable. She was given palliative chemotherapy (doxorubicin six cycles, followed by ifosfamide one cycle) but had disease progression. She passed away 3 months later. The mainstay of treatment for phyllodes tumour is excision with a minimal margin of 1 cm. Although margins were involved after the first surgery, she was followed up as the pathology was a borderline phyllodes. When the lump recurred and had transformed, despite extensive surgery, it returned shortly and progressed. A borderline phyllodes should be excised to obtain a minimal margin of 1 cm, even if it means performing a mastectomy, to minimise recurrence. A recurrence may undergo malignant transformation which is largely chemotherapy and radiotherapy resistant. This will result in a poor outcome and decreased survival.

12.
Placenta ; 147: 21-27, 2024 Mar 06.
Article in English | MEDLINE | ID: mdl-38278001

ABSTRACT

INTRODUCTION: Gestational diabetes mellitus (GDM) exerts a great impact on the placenta and reflects changes on placentas both morphological and functionally. The aims of this study are to evaluate the prevalence of placental histopathological lesions in pregnancies complicated by GDM compared to gestational age-matched controls, and their association with maternal and fetal complications. METHODS: Fifty-four singleton GDM-complicated pregnancies were recruited and compared to 33 consecutive normal pregnancies. Two pathologists, blinded to all clinical data, reviewed and evaluated all histological samples of the placentas in accordance with Amsterdam criteria. Relevant demographic, clinical data and primary birth outcomes were recorded. RESULTS: A myriad of histomorphological abnormalities, including chronic inflammation (n = 9/54, p = 0.031), histological chorioamnionitis (n = 23/54, p < 0.001), umbilical/chorionic vasculitis (n = 9/54, p = 0.031), changes related to maternal vascular malperfusion (n = 22/54, p = 0.003), chorangiosis (n = 10/54, p = 0.046) and villous dysmaturity (n = 9/54, p = 0.012) were observed more frequently in the GDM placentas compared to the controls. Additionally, GDM significantly increased the risk of fetal complications, including macrosomia/fetal growth restriction (n = 13/54, p = 0.004). DISCUSSION: Histoarchitectural abnormalities were observed more frequently in placentas of GDM pregnancies compared to the controls. Our findings support the hypothesis that diabetic-induced damage in the placental function may be associated with the increased in fetal growth disorders in GDM-complicated pregnancies.


Subject(s)
Diabetes, Gestational , Placenta , Pregnancy , Female , Humans , Placenta/pathology , Diabetes, Gestational/pathology , Fetal Macrosomia , Fetal Growth Retardation/pathology
13.
Diagnostics (Basel) ; 14(8)2024 Apr 12.
Article in English | MEDLINE | ID: mdl-38667457

ABSTRACT

BACKGROUND: Connexins (Cx) 43 and 40 play a role in leukocytes recruitment in acute inflammation. They are expressed in the endothelial cells. They are also found in the placenta and involved in the placenta development. Acute chorioamnionitis is associated with an increased risk of adverse perinatal outcomes. The aim of this study was to determine the expressions of Cx43 and Cx40 in the placenta of mothers with acute chorioamnionitis, and to correlate their association with the severity of chorioamnionitis and adverse perinatal outcomes. METHODS: This study comprised a total of 81 cases, consisting of 39 placenta samples of mothers with acute chorioamnionitis and 42 non-acute chorioamnionitis controls. Cx43 and Cx40 immunohistochemistry were performed on all cases and their expressions were evaluated on cytotrophoblasts, syncytiotrophoblasts, chorionic villi endothelial cells, stem villi endothelial cells, maternal endothelial cells and decidua of the placenta. RESULTS: Primigravida has a significantly higher risk of developing acute chorioamnionitis (p < 0.001). Neonates of mothers with a higher stage of fetal inflammatory response was significantly associated with lung complications (p = 0.041) compared to neonates of mothers with a lower stage. The expression of Cx40 was significantly higher in fetal and maternal vascular endothelial cells in acute chorioamnionitis (p < 0.001 and p = 0.037, respectively) compared to controls. Notably, Cx43 was not expressed in most of the types of cells in the placenta, except for decidua. Both Cx43 and Cx40 expressions did not have correlation with the severity of acute chorioamnionitis and adverse perinatal outcomes. CONCLUSION: Cx40 was overexpressed in the fetal and maternal vascular endothelial cells in the placenta of mothers with acute chorioamnionitis, and it may have a role in the development of inflammation in placenta.

14.
Diagnostics (Basel) ; 13(3)2023 Jan 29.
Article in English | MEDLINE | ID: mdl-36766592

ABSTRACT

Neonates born with the fetal inflammatory response (FIR) are at risk of complications such as early-onset neonatal sepsis, meningitis, and pneumonia. Providing an early histopathological diagnosis of FIR is important to guide management but can be a challenge in busy laboratories. This is a retrospective cross-sectional study over a four-month duration recruiting all placental cases with histological chorioamnionitis in our institution. The diagnostic performance of the umbilical cord (UC) section in identifying FIR, relative to the corresponding subsequent placental sections, was assessed. Clinical predictors of umbilical cord FIR were also investigated. A total of 390 UC sections were analyzed, of which 206 (52.8%) were found positive for FIR: 111 cases (53.9%) stage 1, 87 (42.2%) stage 2, and 8 (3.9%) stage 3. Our data revealed a good diagnostic sensitivity, specificity, positive predictive value, and accuracy of 76.2% (95%CI: 68.6-82.7%), 82.4% (95%CI: 65.5-93.2%), 95.0% (95%CI: 90.2-97.6%), and 77.3% (95%CI: 70.6-83.1%) respectively, in cases when clinical chorioamnionitis, fever and/or prolonged rupture of membrane (PROM) were suspected, with the area under the curve of 0.793. A maternal inflammatory response (MIR) was correlated with FIR (p < 0.001). Multivariate logistic regression analysis indicated that the higher the gestational age, clinical suspicion of chorioamnionitis, fever, and/or PROM, and the higher the stage of MIR significantly increased the odds of FIR (p < 0.001). UC section diagnosis of FIR is reasonably accurate in cases with clinical chorioamnionitis, fever, and/or PROM. Changing current laboratory practice to rapid processing of UC ahead of the rest of the other placental sections can be recommended in busy pathology departments.

15.
Front Oncol ; 13: 1216776, 2023.
Article in English | MEDLINE | ID: mdl-37564941

ABSTRACT

Giant paratesticular liposarcoma is a rare presentation of paratesticular tumor. We present a case of the largest paratesticular liposarcoma described to date with a weight of 4,100 g and measuring 460 × 210 × 130 mm. It was initially mistaken as an inguinoscrotal hernia until a contrast-enhanced computed tomography (CECT) scan of the abdomen and pelvis revealed a huge left paratesticular tumor extending from the scrotum to the mid-abdomen. The challenge was to achieve a tumor-free margin orchidectomy due to the poor fat plane of the tumor to the external iliac artery, psoas muscle, descending colon, and anterior abdominal wall. The surgery was started with laparoscopic dissection for the intraabdominal part of tumor from the vital structure, then followed by inguinal radical orchidectomy and inguinal mesh repair. Postoperative histopathological report revealed a paratesticular dedifferentiated liposarcoma with rhabdomyosarcomatous differentiation with clear margin. The patient had good recovery post operation.

16.
Eur J Obstet Gynecol Reprod Biol X ; 19: 100218, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37575365

ABSTRACT

Objective: The uptake of cervical cancer screening is poor, especially in developing countries. Thus, pregnancy represents a good opportunity to have the test done. The aim of this study is to determine the prevalence of abnormal Pap smear among pregnant women during their antenatal check-ups. Study design: A prospective study involving five hundred and ninety-six women was recruited over a 1-year duration from 15th January 2018 until 14th January 2019 in a tertiary referral center, in Malaysia. Pap smears were performed on all consented pregnant women using liquid-based cytology and the results were obtained to evaluate the prevalence of abnormal Pap smear during pregnancy. Maternal risk factors associated with abnormal Pap smear were identified and the outcomes of abnormal Pap smear were followed up. Results: A total of 670 participants were approached and 596 participants agreed to participate, giving a response rate of 89.0 %. Therefore, 587 participants were available for analysis. There were nine unsatisfactory smears (1.5 %). The prevalence of premalignant lesions reported on p % ap smear was 0.8 %. Three respondents had atypical squamous cells of undetermined significance (ASCUS) (0.5 %) and two respondents had low-grade squamous intraepithelial lesions (LSIL) (0.3 %). Almost one-third (30.3 %) of respondents had an infection and 24 (4.1 %) smears were reported as reactive changes associated with inflammation. Respondents between the age of 20-30 years old had a significant association with an abnormal pre-cancerous smear (p = 0.000) as well as nulliparity (p = 0.0.40). There was no significant association between height, weight, BMI, sexual partner, age of first intercourse, smoking habit, history of sexually transmitted disease and history of abnormal Pap smear. Conclusion: The prevalence of abnormal pre-cancerous smears during pregnancy is low. However, it is desirable to perform cervical screening as it provides an opportunity to no screening at all.

17.
Nat Genet ; 55(6): 1009-1021, 2023 06.
Article in English | MEDLINE | ID: mdl-37291193

ABSTRACT

Aldosterone-producing adenomas (APAs) are the commonest curable cause of hypertension. Most have gain-of-function somatic mutations of ion channels or transporters. Herein we report the discovery, replication and phenotype of mutations in the neuronal cell adhesion gene CADM1. Independent whole exome sequencing of 40 and 81 APAs found intramembranous p.Val380Asp or p.Gly379Asp variants in two patients whose hypertension and periodic primary aldosteronism were cured by adrenalectomy. Replication identified two more APAs with each variant (total, n = 6). The most upregulated gene (10- to 25-fold) in human adrenocortical H295R cells transduced with the mutations (compared to wildtype) was CYP11B2 (aldosterone synthase), and biological rhythms were the most differentially expressed process. CADM1 knockdown or mutation inhibited gap junction (GJ)-permeable dye transfer. GJ blockade by Gap27 increased CYP11B2 similarly to CADM1 mutation. Human adrenal zona glomerulosa (ZG) expression of GJA1 (the main GJ protein) was patchy, and annular GJs (sequelae of GJ communication) were less prominent in CYP11B2-positive micronodules than adjacent ZG. Somatic mutations of CADM1 cause reversible hypertension and reveal a role for GJ communication in suppressing physiological aldosterone production.


Subject(s)
Adrenal Cortex Neoplasms , Adrenocortical Adenoma , Hyperaldosteronism , Hypertension , Humans , Aldosterone , Cytochrome P-450 CYP11B2 , Gap Junctions , Mutation , Cell Adhesion Molecule-1
19.
Diagnostics (Basel) ; 12(4)2022 Apr 12.
Article in English | MEDLINE | ID: mdl-35454014

ABSTRACT

Mucosal prolapse syndrome is also known as solitary rectal ulcer syndrome. It may either presents as an ulcer or polyp, which could mimic other pathological lesions such as juvenile polyp, hyperplastic polyp, adenomatous polyp, polyp related inflammatory bowel disease and adenocarcinoma. It can pose as a diagnostic challenge to both the surgeons and pathologists due to the overlapping gross and histological features. The characteristic histological features of mucosal prolapse syndrome are fibromuscular obliteration of lamina propria and splayed hypertrophic muscularis mucosae. It can occur in a wide range of ages, including children and teenagers. Rectal bleeding is one of the common presenting symptoms. Here, we described two cases of mucosal prolapse syndrome presented as rectal polyposis and provide a discussion on its histological differential diagnosis.

20.
Diagnostics (Basel) ; 12(4)2022 Mar 30.
Article in English | MEDLINE | ID: mdl-35453903

ABSTRACT

A myriad of histological variants of papillary thyroid carcinoma (PTC) have been described, some of which can be diagnostically challenging due to their rarity and overlapping histomorphology with other entities. One of the scarce and poorly characterised variants is PTC with spindle cell metaplasia, of which fewer than 20 cases have been reported in the literature hitherto. Our patient was a 51-year-old woman with a four-month history of painless, gradually enlarging neck swelling. Physical examination revealed a solitary left thyroid nodule. Thyroid ultrasonography demonstrated a hypoechoic nodule with irregular borders and speckles of microcalcification at the periphery. Total thyroidectomy with central and lateral lymph node dissection was performed. Grossly, there was a poorly circumscribed mass occupying the entire left thyroid lobe measuring 30 mm in the largest dimension. Histopathological examination revealed features of a classical PTC. Incidentally, a well-circumscribed 9 mm nodule was identified within the tumour mass. The nodule comprised of spindle cells arranged in loose fascicles, displaying uniform bland looking nuclei. No mitosis, necrosis or nuclear atypia was observed. Immunohistochemically, the spindle cells were immunopositive to TTF-1 and thyroglobulin, indicating thyroid follicular cell lineage. p53 and BRAF V600E mutant protein immunoexpression were focally noted. They were negative for calcitonin, S100, and desmin. Loss of E-cadherin and CK19 were also demonstrated. A diagnosis of PTC with spindle cell metaplasia was rendered. The nature of spindle cell in PTC needs to be meticulously defined. Careful histomorphology examination and judicious use of immunohistochemistry stains are helpful in arriving at an accurate diagnosis.

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