Recurrent fetal triploidy: is there a genetic cause?

2021 ◽  
Vol 14 (3) ◽  
pp. e239843
Author(s):  
Andreia Fontoura Oliveira ◽  
Maria Manuel Torrão ◽  
Rosete Nogueira ◽  
Manuela Ferreira

Triploidy is currently understood as a sporadic genetic disorder, with no recognisable risk of recurrence nor identifiable risk factors. In cases of triploidy, chances of thriving through the second trimester of fetal development are very slim, with most of these pregnancies ending as early miscarriage. We report a case of repeated triploid pregnancies in the same woman, from different fathers, achieving the second trimester of pregnancy; elective termination was decided in both cases, after an amniocentesis revealing a triploid karyotype. Both triploid pregnancies are described and compared; prenatal laboratorial markers, sonographic features, clinical course and pathological findings are analysed and matched with fetal autopsy and placental pathological study. Reported findings strongly point to recurrent triploidy of maternal origin, and so the possibility of a genetic predisposition should be considered. Investigation is required to assess the presence of an underlying genetic mechanism in this setting, thus enabling a better genetic/obstetric counselling.

2019 ◽  
Vol 1 (1) ◽  
Author(s):  
Weihua Yu ◽  
Ying Zhu ◽  
Qingshu Li ◽  
Xin Tian ◽  
Peng Zhang ◽  
...  

Abstract Background Sudden unexpected death of epilepsy (SUDEP) is a severe outcome of epilepsy. This study aimed to report the clinical and pathological findings in patients with SUDEP. Methods The record of patients with sudden death was screened. When the reason of death matched with the definition of SUDEP, the clinical and pathological data were analyzed. Eleven patients with SUDEP were included in the study. Results Eight patients died after a generalized tonic-clonic seizure, seizures were induced by emotional changes in five patients, four cases were found dead in bed. Carbamazepine was prescribed in six patients. The autopsy showed brain edema and pulmonary edema in all eleven patients. Loss of neurons and gliosis were presented in some brains of SUDEP subjects. The main pathological changes in SUDEP include brain edema, pulmonary edema, loss of neurons and gliosis. Conclusions Risk factors for SUDEP in the study are generalized tonic-clonic seizure, emotional disturbance and carbamazepine treatment.


Pathogens ◽  
2020 ◽  
Vol 9 (9) ◽  
pp. 688 ◽  
Author(s):  
Antonio Rodríguez-Bertos ◽  
Estefanía Cadenas-Fernández ◽  
Agustín Rebollada-Merino ◽  
Néstor Porras-González ◽  
Francisco J. Mayoral-Alegre ◽  
...  

African swine fever (ASF) is a notifiable disease that in recent years has spread remarkably in Europe and Asia. Eurasian wild boar (Sus scrofa) plays a key role in the maintenance and spread of the pathogen. Here we examined gross pathology of infection in wild boar with a highly virulent, hemadsorbing genotype II ASF virus (ASFV) strain. To this end, six wild boars were intramuscularly inoculated with the 10 HAD50 Arm07 ASFV strain, and 11 wild boars were allowed to come into direct contact with the inoculated animals. No animals survived the infection. Clinical course, gross pathological findings and viral genome quantification by PCR in tissues did not differ between intramuscularly inoculated or contact-infected animals. Postmortem analysis showed enlargement of liver and spleen; serosanguinous effusion in body cavities; and multiple hemorrhages in lungs, endocardium, brain, kidneys, urinary bladder, pancreas, and alimentary system. These results provide detailed insights into the gross pathology of wild boar infected with a highly virulent genotype II ASFV strain. From a didactic point of view, this detailed clinical course and macroscopic description may be essential for early postmortem detection of outbreaks in wild boar in the field and contribute to disease surveillance and prevention efforts.


1994 ◽  
Vol 81 (3) ◽  
pp. 472-476 ◽  
Author(s):  
Mahlon D. Johnson ◽  
Robert Maciunas ◽  
Jeffrey Creasy ◽  
Robert D. Collins

✓ Granulomatous angiitis is a rare, treatable central nervous system vasculitis. Prompt diagnosis may be thwarted by protean presenting symptoms, an indolent clinical course, and atypical neurological findings. The authors describe a case of indolent granulomatous angiitis in which the patient presented with cerebellar signs and tissue changes suggestive of an atypical cerebellar infarction. After several years of remissions and relapses, repeat evaluation and biopsy disclosed granulomatous angiitis both in remote infarctions and in new cortical lesions. The clinical course and neuroradiological and pathological findings are compared with previous reports of fulminant and indolent granulomatous angiitis.


1990 ◽  
Vol 72 (6) ◽  
pp. 968-970 ◽  
Author(s):  
Aliakbar Morshed ◽  
Parviz Mohit

✓ The case is reported of a 40-year-old militiaman who presented 4 days after a blast injury with a huge swelling of the scalp. The bulge was determined to be an air mass collected extradurally via lysis of the air cells of the mastoid bone. Pathological study of the resected bones revealed cystic angiomatosis. The unusual clinical presentation, as well as the rarity of the pathological findings, prompted this report.


Neurosurgery ◽  
1991 ◽  
Vol 29 (3) ◽  
pp. 442-446 ◽  
Author(s):  
Yoichi Kaneko ◽  
Yuji Sato ◽  
Toru Iwaki ◽  
Ryong-Woon Shin ◽  
Jun Tateishi ◽  
...  

Abstract A case of clival chordoma in a 4-year-old girl is presented. The tumor regrew rapidly after it was partially removed, and the patient died after a clinical course of 11 months. An autopsy revealed a massive clival mass and widespread metastases in the dura mater, skull bone, bilateral lungs, liver, sternum, left humerus, and vertebrae. Pathological findings showed that the tumor cells were poorly differentiated, with a rare, but typical, physaliphorous appearance. The presence of epithelial differentiation proteins, mitochondria surrounded by rough endoplasmic reticulum, and desmosomes was demonstrated in the tumor cells both immunohistochemically and ultrastructurally. Thus, the tumor was diagnosed as a chordoma. The literature pertaining to intracranial chordoma in early childhood is reviewed. Rapid growth and distant metastases may occur in chordomas at a young age.


Author(s):  
Sanjay Punjaji Dhawane

Aims and Objectives: Incidental finding of fetal pelvi-calyceal dilatation is common finding on early second trimester anomaly scan. [18 to 23 weeks] It causes significant parental anxiety. The present study aims to apply stringent criteria for accurate assessment.  It also studies the natural course of such findings, pathological cause for such findings and its postnatal outcomes. Study Design: This study includes 9500 cases that underwent anomaly at 18 to 23 weeks gestation period. The fetal pelvi-calyceal dilatation [PCD] was diagnosed and categorized according to criteria set by European Society for Pediatric Radiology [ 1]. PCD 0 – renal calyces and pelvis not or hardly visible. PCD 1 – renal calyces not visible and axial renal pelvis diameter is less than 7 mm. PCD 2 – some calices are visible but with normal forniceal and papillary shape, axial renal pelvis less than 10 mm. PCD 3 - marked dilatation of calices and pelvis. Pelvic axial width usually more than 10 mm with flattened papilla and rounded fornices but without parenchymal thinning. PCD 4- gross dilatation of entire collecting system and thinning of renal parenchyma. PCD 5- Only thin membrane like residual renal parenchymal rim. Result: Among 9500 women who underwent routine anomaly scan at 18 to 23 weeks gestation, total 390 had PCD findings [4.1 %] Single kidney taken as one case while bilateral findings were taken  as 2 cases. 98 [25.1 %] pregnancies had bilateral PCD findings and rest 292[74.9%] had unilateral PCD changes. These findings correlate well with as shown by S Sairam et al, Livera et al, Gunn et al [2, 3, 4]    PCD 1 findings were noted in 317 cases, PCD2 findings were noted in 38 cases, PCD3 findings in 23 cases and PCD4 findings in 12 cases. All these fetuses were followed till either PCD findings resolved naturally or till 2 years of their life. These findings also compare well with S Sairam et al, and Persutte et al [ 2, 5] About 00 cases of PCD1, 3 cases of PCD2 and 2 cases of PCD3 were lost for follow up for various reasons. Two cases of PCD1 were lost due to additional diagnosis of Down syndrome in one case and multiple anomalies in other cases. Both were excluded from the present study. Rest of them [383] were studied and analyzed for this paper. Out of 315 PCD1 cases, all turned out to be normal Out of 35 PCD2 cases,   19 were resolved, 12 remain unchanged at second year of child age rest were 4 worsened Out of 21 PCD 3, 2 cases resolved spontaneously, 5 remain unchanged and 14 cases worsened Out of 12 PCD 4 cases, all needed and underwent surgical intervention. 04 kidneys were saved and rest 8 had nephrectomies.


Diagnostics ◽  
2021 ◽  
Vol 11 (9) ◽  
pp. 1721
Author(s):  
Tomomitsu Miyagaki

Mycosis fungoides (MF), the most common type of cutaneous T-cell lymphomas, generally has a favorable clinical course. Early MF typically presents erythematous patches and/or plaques and lasts for many years without affecting the life expectancy. Only limited cases progress to develop skin tumors, with subsequent lymph nodes and rarely visceral organ involvement. One of the clinical problems in early MF is the difficulty in differentiating the disease from benign inflammatory disorders (BIDs), such as atopic dermatitis, chronic eczema, and psoriasis. In some MF cases, clinical and pathological findings are similar to those of BIDs. However, the accurate diagnosis of early MF is quite important, as inappropriate treatment including immunosuppressants can cause unfavorable or even fatal outcomes. This article focuses on general methods and novel tools for diagnosis of early MF.


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