Molecular detection and identification of agents of eumycetoma: detailed report of two cases.
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ABSTRACT:
SUBMITTER: Ahmed AO
PROVIDER: S-EPMC309011 | biostudies-other | 2003 Dec
REPOSITORIES: biostudies-other
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Project description:Chromosomal mosaicism remains a perpetual diagnostic and clinical dilemma. In the present study, we detected two prenatal trisomy 9 mosaic syndrome cases by using multiple genetic testing methods. The non-invasive prenatal testing (NIPT) results suggested trisomy 9 in two fetuses. Karyotype analysis of amniocytes showed a high level (42%-50%) of mosaicism, and chromosomal microarray analysis (CMA) of uncultured amniocytes showed no copy number variation (CNV) except for large fragment loss of heterozygosity. Ultrasound findings were unmarkable except for small for gestational age. In Case 1, further umbilical blood puncture confirmed 22.4% and 34% trisomy 9 mosaicism by CMA and fluorescent in situ hybridization (FISH) respectively. After comprehensive consideration of the genetic and ultrasound results, the two gravidas decided to receive elective termination and molecular investigations of multiple tissue samples from the aborted fetus and the placenta. The results confirmed the presence of true fetoplacental mosaicism with levels of trisomy 9 mosaicism from 76% to normal in various tissues. These two cases highlight the necessity of genetic counseling for gravidas whose NIPT results highly suggest the risk of chromosome 9 to ascertain the occurrence of mosaicism. In addition, the comprehensive use of multiple genetic techniques and biological samples is recommended for prenatal diagnosis to avoid false-negative results. It should also be noted that ultrasound results of organs with true trisomy 9 mosaicism can be free of structural abnormalities during pregnancy.
| S-EPMC10036773 | biostudies-literature
Project description:The current lack of proven pharmacological treatment options for traumatic brain injury (TBI) patients reflects the poor translation of successful preclinical studies in clinical trials. This may be due to poor choice of therapeutic agents based on incomplete knowledge of critical elements of neuroprotection. Our goal is to expedite discovery and translation of therapeutic agents that can improve functional outcome by identifying the common molecular profile of neuroprotective drugs. Since damage to the hippocampus is associated with TBI-induced deficits in learning and memory, we analyzed of the hippocampal transcriptional profiles of TBI rats treated with two clinically used drugs metyrapone and carbenoxolone, which have been shown to improve cognitive deficits in previous studies. Despite their different structures, we found that MT and CB have similar effects on several known biological pathways. The neuroprotective effects of these drugs are associated with a distinctive molecular signature which is characterized not by changes in expression of any individual gene but by a common global effect on multiple cell signaling pathways. These data suggest that drug treatments that induce a coordinated attenuation of multiple injury-induced cell signaling networks, both deleterious and protective, have high translational potential.
2012-12-23 | GSE31357 | GEO
Project description:The current lack of proven pharmacological treatment options for traumatic brain injury (TBI) patients reflects the poor translation of successful preclinical studies in clinical trials. This may be due to poor choice of therapeutic agents based on incomplete knowledge of critical elements of neuroprotection. Our goal is to expedite discovery and translation of therapeutic agents that can improve functional outcome by identifying the common molecular profile of neuroprotective drugs. Since damage to the hippocampus is associated with TBI-induced deficits in learning and memory, we analyzed of the hippocampal transcriptional profiles of TBI rats treated with two clinically used drugs metyrapone and carbenoxolone, which have been shown to improve cognitive deficits in previous studies. Despite their different structures, we found that MT and CB have similar effects on several known biological pathways. The neuroprotective effects of these drugs are associated with a distinctive molecular signature which is characterized not by changes in expression of any individual gene but by a common global effect on multiple cell signaling pathways. These data suggest that drug treatments that induce a coordinated attenuation of multiple injury-induced cell signaling networks, both deleterious and protective, have high translational potential. There were 16 samples for array analysis, two biological replicates each for control (4 and 24 hour), TBI (4 and 24 hour), TBI plus MT (4 and 24 hour) and TBI plus CB (4 and 24 hour). Each biological sample, which is a pooled RNA sample (laser captured CA3 pyramidal neurons) from the hippocampus of 3-6 rats, was hybridized to duplicate arrays so that there were 32 gene arrays in this study.
2012-12-23 | E-GEOD-31357 | biostudies-arrayexpress
Project description:Hypofibrinogenemia is an uncommon bleeding disorder. Two siblings with mild bleeding diathesis were investigated and diagnosed as suffering from this disorder. The cases are discussed keeping in view of their rarity.
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Project description:Human angiostrongyliasis is an important foodborne helminthic zoonosis caused by the nematodes of the genus Angiostrongylus. We describe two parasitologically confirmed cases of ocular angiostrongyliasis, presenting at a tertiary care hospital in Thailand between 2012 and 2018. Parasites were surgically recovered from patients' eyes and morphologically identified as Angiostrongylus species. DNA analysis allowed identification of Angiostrongylus cantonensis. Polymerase chain reaction was used to amplify all or part of the small nuclear ribosomal subunit, the second internal transcribed spacer region, and cytochrome c oxidase subunit 1. The sequences subsequently obtained were highly similar to those of A. cantonensis (97-100%). This is the first molecular confirmation that A. cantonensis is a causative agent of human angiostrongyliasis in Thailand.
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Project description:Rationale1q21.1 duplication is an uncommon chromosomal submicroscopic imbalance which is associated with growth/mental retardation, dysmorphic features, autism, multiple congenital and neuropsychiatric disorders.Patient concernsTwo pregnant women underwent amniocentesis for cytogenetic analysis and chromosomal microarray analysis (CMA) following abnormal ultrasound findings. Case 1 presented short nasal bone and case 2 showed absent nasal bone, ventricular septal defect and umbilical cord circling in ultrasonic examination.DiagnosesG-banding analysis showed that the two fetuses presented normal karyotypic results while CMA detected 1.796 Mb (case 1) and 1.242 Mb (case 2) microduplications in the region of 1q21.1q21.2 separately. Furthermore, the CMA also revealed a 1.2 Mb microdeletion of 8p23.3 in case 1.InterventionsThe couple in case 1 chose to terminate the pregnancy, while the couple in case 2 continued the pregnancy and finally delivered a male infant who presented low nasal bridge and ventricular septal defect.OutcomesThe 1q21.1q21.2 duplications in our report were located in the distal 1q21.1 region, overlapping with 1q21.1 duplication syndrome. Case 2 was the first reported live birth with 1q21.1 duplication according to prenatal CMA detection in China.LessonsThe genotype-phenotype of 1q21.1 duplication is complicated due to the phenotypic diversity, incomplete penetrance, and lack of obvious characteristics. So it is difficult to predict the postnatal development and health conditions clinically. Hence, long term follow up is necessary for newborn infants with 1q21.1 duplication, irrespective of whether the duplication is de novo or inherited.
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Project description:IntroductionWoakes' syndrome is a rare condition commonly defined as recurrent sinonasal polyposis with consecutive destruction of the nasal pyramid. Till now, only a few cases have been reported in the literature. The purpose of this paper is to present the features of woakes' syndrome through two new clinical cases, adding some valuable insight to the recently reported cases.Case reportWe report a series of two consecutive adults male and female patients, aged 55 and 58 years, with Samter's triad, who presented recurrent nasal polyposis and progressive broadening of the nasal dorsum. Facial CT showed in both patients the same radiologic pattern of nasal and paranasal cavities obliteration with nasal bone deformation. Both patients underwent functional endoscopic sinus surgery and correction of the bony nasal vault deformity without osteotomies. At 3 months follow-up, the nasal air passage remained free and aesthetic outcomes were observed.Discussionhaving been described over 130 years ago, the etiology of woakes' syndrome remains unclear. Treatment includes topical treatment and sinonasal surgery. Surgical treatment of the nasal dorsum deformity is rarely addressed.ConclusionThese observations suggest that the external nose deformity may be successfully corrected by digital compression, in combination with endoscopic sinus surgery.
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Project description:A recent study of randomized controlled trials showed favorable outcomes with use of decompressive craniectomy in managing and treating uncontrolled intracranial pressures accompanied with cerebral edema due to trauma. We present the details of bicompartmental decompressive craniectomy on two patients who presented with severe head trauma of supra- and infratentorial pathologies. The surgical management techniques and long-term follow-up are discussed in detail.
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Project description:Two cases of Wilson's disease are reported. First case presented with fulminant hepatic failure and had a fatal outcome. The second had an insiduous onset, neurological manifestations, and is progressing satisfactorily on zinc therapy. Problems in diagnosis and treatment are highlighted.
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Project description:Two biocontrol agents Genome sequencing
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