scholarly journals Epilepsy and ring chromosome 20: case report

2002 ◽  
Vol 60 (3A) ◽  
pp. 631-635 ◽  
Author(s):  
Marleide da Mota Gomes ◽  
Irene Lucca ◽  
Sonia Alonso Monteiro Bezerra ◽  
Juan Llerena Jr ◽  
Denise Madeira Moreira
Keyword(s):  
De Novo ◽  
Young Male ◽  
Ring Chromosome ◽  
Long Period ◽  
Theta Waves ◽  
Brain Anomalies ◽  
Great Amplitude ◽  
Motor Component ◽  
Brain Magnetic Resonance Image ◽  
Eeg Pattern

We present the clinical, electroencephalographic, neuroimaging (brain magnetic resonance image - MRI and spectroscopy by MRI) and cytogenetic findings of a young male patient with a rare cytogenetic anomaly characterised by a de novo 46,XY,r(20)(p13q13.3) karyotype. He presents with mental retardation, emotional liability, and strabismus, without any other significant dysmorphies. There are brain anomalies characterised by corpus callosum, uvula, nodule and cerebellum pyramid hypoplasias, besides arachnoid cysts in the occipital region. He had seizures refractory to pharmacotherapy and long period of confusional status with or without a motor component. The authors recognised that the EEG pattern was not fixed but changed over time, specially for bursts of slow waves with great amplitude accompanied or not by sharp components, and bursts of theta waves sharply contoured. Previously, epilepsy solely has been assigned to region 20q13. However, the important structural cerebral alterations present in our case has not been reported associated to such chromosomal abnormality and may indicate possible new chromosomal sites where such atypical neurological characteristics could be mapped.

scholarly journals De novo angiosarcoma of the pleura in a young male

2016 ◽  
Vol 4 (1) ◽  
pp. 93
Author(s):  
Arjun Khanna ◽  
Pallavi Periwal ◽  
Rajat Saxena ◽  
Deepak Talwar
Keyword(s):  
De Novo ◽  
Young Male

scholarly journals Acute heart failure due to COVID-19 related myocardial injury and de novo hypertensive cardiomyopathy: a challenging diagnosis

2021 ◽  
Author(s):  
Matteo Pernigo ◽  
Marco Triggiani ◽  
Emanuele Gavazzi ◽  
Ilaria Papa ◽  
Alberto Vaccari ◽  
...  
Keyword(s):  
Myocardial Injury ◽  
De Novo ◽  
Correct Diagnosis ◽  
Young Male ◽  
Organ Damage ◽  
Severe Illness ◽  
Myocardial Inflammation ◽  
Tubular Injury ◽  
Myocardial Thickening ◽  
Left Ventricle Dysfunction

We report a COVID-19 case with acute heart and kidney failure in a healthy young male. Echocardiography showed severe systolic and diastolic left ventricle dysfunction, with diffuse myocardial thickening. Cardiac MRI showed aspects of focal myocarditis, and hypertensive cardiomyopathy. Renal biopsy demonstrated limited acute tubular injury, and hypertensive kidney disease. Coronary angiography excluded critical stenoses. Unlike what we initially suspected, myocardial inflammation had a limited extent in our patient; severe hypertension causing cardiomyopathy and multi-organ damage, not diagnosed before, was primarily responsible for severe illness. Correct diagnosis and guidelines-directed treatment allowed a favorable course.

Gray Matter Heterotopia, Mental Retardation, Developmental Delay, Microcephaly, and Facial Dysmorphisms in a Boy with Ring Chromosome 6: A 10-Year Follow-Up and Literature Review

2018 ◽  
Vol 154 (4) ◽  
pp. 201-208 ◽  
Author(s):  
Shu Liu ◽  
Zhiqing Wang ◽  
Sisi Wei ◽  
Jinqun Liang ◽  
Nuan Chen ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Gray Matter ◽  
De Novo ◽  
Ring Chromosome ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chromosome 6 ◽  
Material Loss ◽  
Ring Chromosome 6

Ring chromosome 6, r(6), is an extremely rare cytogenetic abnormality with clinical heterogeneity which arises typically de novo. The phenotypes of r(6) can be highly variable, ranging from almost normal to severe malformations and neurological defects. Up to now, only 33 cases have been reported in the literature. In this 10-year follow-up study, we report a case presenting distinctive facial features, severe developmental delay, and gray matter heterotopia with r(6) and terminal deletions of 6p25.3 (115426-384174, 268 kb) and 6q26-27 (168697778-170732033, 2.03 Mb) encompassing 2 and 15 candidate genes, respectively, which were detected using G-banding karyotyping, FISH, and chromosomal microarray analysis. We also analyzed the available information on the clinical features of the reported r(6) cases in order to provide more valuable information on genotype-phenotype correlations. To the best of our knowledge, this is the first report of gray matter heterotopia manifested in a patient with r(6) in China, and the deletions of 6p and 6q in our case are the smallest with the precise size of euchromatic material loss currently known.

scholarly journals Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male

2009 ◽  
Vol 2 (1) ◽  
pp. 8
Author(s):  
Sofia Kitsiou-Tzeli ◽  
Emmanouil Manolakos ◽  
Magdalini Lagou ◽  
Katerina Anagnostopoulou ◽  
Maria Kontodiou ◽  
...  
Keyword(s):  
De Novo ◽  
Ring Chromosome ◽  
Normal Male ◽  
Chromosome 20

ROLE OF THE MESENCHYME IN THE INDUCTION OF THE RAT PROSTATE GLAND BY ANDROGENS IN ORGAN CULTURE

1979 ◽  
Vol 82 (1) ◽  
pp. 171-NP ◽  
Author(s):  
ILSE LASNITZKI ◽  
TAKEO MIZUNO
Keyword(s):  
Organ Culture ◽  
De Novo ◽  
Prostate Gland ◽  
Young Male ◽  
Free Medium ◽  
Foetal Rat ◽  
Rat Prostate ◽  
Do So

SUMMARY Rat prostate glands are induced de novo by androgens in 16·5-day-old male and female urogenital sinuses in vitro as epithelial buds projecting into the surrounding mesenchyme. The role of the mesenchyme in this process has been investigated in various epithelial-mesenchymal recombinations in organ culture. Isolated epithelium did not form buds but required the presence of the mesenchyme to do so. This requirement seemed to be specific; in the presence of testosterone or dihydrotestosterone only urogenital mesenchyme increased cell division in the urogenital epithelium and stimulated prostatic bud formation. In contrast, heterotypic mesenchyme did not affect epithelial mitosis and failed to induce buds while heterotypic epithelia did not respond to urogenital mesenchyme. In recombinants of urogenital mesenchyme pretreated with androgen and untreated urogenital epithelium, grown in androgen-free medium, the majority of explants developed prostatic buds while only a few buds were formed from epithelium pretreated with androgen when it was recombined with untreated mesenchyme. The role of the mesenchyme in the loss of androgen responsiveness of the older female sinuses was examined in heterochronic recombinants. It was found that the old female mesenchyme failed to induce buds in young epithelium while young male or female mesenchymes induced them in the old female epithelium. The results suggest that the urogenital mesenchyme is essential for the initiation of the foetal rat prostate gland and that it may be a target for androgens and complement or mediate their effect on the epithelium.

scholarly journals ACUTE HEART FAILURE

2018 ◽  
Vol 25 (09) ◽  
pp. 1392-1396
Author(s):  
Jasia Reham Din ◽  
Shahid Maqbool ◽  
Shakeel ur Rehman ◽  
Naeem Hameed
Keyword(s):  
Heart Failure ◽  
Acute Heart Failure ◽  
De Novo ◽  
Past History ◽  
Previous History ◽  
Young Male ◽  
Uncontrolled Hypertension ◽  
Cross Sectional ◽  
History Of ◽  
Emergency Department Patients

Objectives: To determine the frequency of the major precipitating factorsamong the patients presenting with acute heart failure. Study Design: Cross sectional study.Setting: Faisalabad Institute of Cardiology, Faisalabad. Period: July 2014 to January 2015.Materials and Methods: 190 patients of acute heart failure were included after obtaininginformed consent from emergency department. Patients from age of 25 years to 80 years andof either sex either diabetic or non-diabetic were enrolled in study. ECG and CXR were takenin emergency with baseline investigations. Precipitating cause was identified from collectedhistory, clinical examination and ECG, CXR and lab results. Results: Mean age of these patientswere 54.4 + 8.92, 100 (52.6%) were male, 90 (47.4%) were females, 88 patients (46.3%) werediabetic, 102 patients (53.68%) were non-diabetic and 124 (65.3%) had previous history of heartfailure and 66 (34.7%) had no past history of heart failure. ACS was the common precipitatingfactor of Acute Heart Failure ( 31.57% ) among all the patients of the study with non-complianceof drugs 27.9% , arrhythmias 17.9% uncontrolled hypertension 17.36% and infections 5.3%.Conclusion: Young, male, diabetics and patients with history of chronic HF suffered more fromAHF. ACS was the most common precipitating factor while in patients with de novo Acute HeartFailure; it was ACS and non-compliance with drugs.

De Novo Ring Chromosome 15: Molecular Cytogenetic and Clinical Characterization of First Case from Saudi Arabia

2020 ◽  
Author(s):  
Amal Alhashem ◽  
Saria Alazmeh ◽  
Ayla Barakat ◽  
Ahmed Alfares ◽  
Hatem Elghezal
Keyword(s):  
De Novo ◽  
Ring Chromosome ◽  
Chromosome 15 ◽  
Chromosomal Disorder ◽  
First Case ◽  
Café Au Lait Spots ◽  
New Findings ◽  
Crossed Fused Renal Ectopia ◽  
Variable Presentation

AbstractRing chromosome 15 is a rare chromosomal disorder, which usually occurs during early embryonic development via spontaneous errors and has variable presentation. To date, 89 cases of this condition have been reported. This case report describes a 5-year-old Saudi boy who was diagnosed as having de novo 46,XY,r(15). The patient presented with short stature, speech delay, café au lait spots, and facial dysmorphic features, together with new findings of left crossed fused renal ectopia and 11 ribs. This presentation was compared with the findings of cases reported previously.

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