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 ◽  
Author(s):  
Matteo Pernigo ◽  
Marco Triggiani ◽  
Emanuele Gavazzi ◽  
Ilaria Papa ◽  
Alberto Vaccari ◽  
...  

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.


1979 ◽  
Vol 82 (1) ◽  
pp. 171-NP ◽  
Author(s):  
ILSE LASNITZKI ◽  
TAKEO MIZUNO

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.


2018 ◽  
Vol 25 (09) ◽  
pp. 1392-1396
Author(s):  
Jasia Reham Din ◽  
Shahid Maqbool ◽  
Shakeel ur Rehman ◽  
Naeem Hameed

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.


Author(s):  
João Santos ◽  
Inês Almeida ◽  
Inês Pires ◽  
Filipe Blanco

Abstract Background Muscular dystrophies are characterized by early onset muscular atrophy and weakness, with frequent cardiac involvement. Myocardial dysfunction and conduction system involvement are often rapidly progressive despite medical and device therapy, and may even precede muscular symptoms, posing a challenge to diagnosis. Case summary We report a case of a young male admitted to a cardiac intensive care unit due to “de novo” acute heart failure and atrial flutter with a slow ventricular response. Careful evaluation of past medical history revealed presence of neuromuscular symptoms since childhood, disregarded throughout adult age. Diagnostic workup allowed to establish a diagnosis of non-dilated hypokinetic cardiomyopathy secondary to Emery-Dreifuss muscular dystrophy, due to Lamin A/C gene mutation. Our patient was treated with neurohormonal modulation therapy and a CRT-D was implanted, but due to worsening advanced heart failure, cardiac transplantation was needed. Discussion Association of skeletal muscle and cardiac symptoms should always raise the suspicion for an underlying muscular dystrophy, since the consequences of a missed diagnosis are often dramatic. A timely diagnosis is crucial to prevent sudden death due to arrythmias in these patients and to delay the progressive course of cardiomyopathy.


2019 ◽  
Vol 27 (8) ◽  
pp. 919-922
Author(s):  
Panagiotis Tsagkozis ◽  
Felix Haglund

Myxoid liposarcomas (MLS) are known to arise de novo and have not been shown to derive from previous benign lesions (lipomas), whereas lipomas occasionally harbor areas of other benign mesenchymal tissue. Rarely, tumors presenting with MLS or round cell liposarcomas together with conventional liposarcoma have been classified as mixed liposarcomas. However, no case of MLS arising in a conventional lipoma has been described. In this article, we report a case of a young male presenting with a deep-seated soft tissue tumor of the posterior part of the thigh. The tumor was removed en bloc. Grossing revealed a small encapsulated myxoid lesion (2.5 cm) within the larger lipomatous tumor (14 cm). Histological examination and cytogenetic analysis revealed a FUS-CHOP positive low-grade MLS arising in a conventional lipoma without histological atypia, FUS-CHOP fusion, or CDK4/MDM2 amplification. While we cannot conclude whether these were collision tumors or an MLS progression from a lipoma, this case highlights the value of careful grossing in the soft tissue setting.


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

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.


2018 ◽  
Vol 12 (3) ◽  
pp. 617-621 ◽  
Author(s):  
Jobin Philipose ◽  
Moiz  Ahmed ◽  
Pretty S. Idiculla ◽  
Stephen M. Mulrooney ◽  
Vivek V. Gumaste

Ixekizumab is a selective monoclonal antibody targeting interleukin-17A, approved for the treatment of chronic plaque psoriasis. It has rarely been associated with inflammatory bowel disease (IBD) in randomized trials only. We report a unique case of severe new-onset ulcerative colitis in a young male complicated by cytomegalovirus infection who was on ixekizumab therapy for plaque psoriasis. We recommend that clinicians should exercise caution before prescribing ixekizumab as it seems to induce and exacerbate IBD.


2018 ◽  
Vol 40 (2) ◽  
pp. 198-200 ◽  
Author(s):  
Gabriela Sevignani ◽  
Giovana Memari Pavanelli ◽  
Sibele Sauzem Milano ◽  
Bianca Ramos Ferronato ◽  
Maria Aparecida Pachaly ◽  
...  

ABSTRACT MYH9-related disease is an autosomal dominant disorder caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA on chromosome 22q12. It is characterized by congenital macrothrombocytopenia, bleeding tendency, hearing loss, and cataracts. Nephropathy occurs in approximately 30% of MYH9-related disease in a male patient carrier of a de novo missense mutation in exon 1 of the MYH9 gene [c.287C > T; p.Ser(TCG)96(TTG)Leu]. He presented all phenotypic manifestations of the disease, but cataracts. Renal alterations were microhematuria, nephrotic-range proteinuria (up to 7.5 g/24h), and rapid loss of renal function. The decline per year of the glomerular filtration rate was 20 mL/min/1.73m2 for five years. Blockade of the renin-angiotensin system, the only recommended therapy for slowing the progression of this nephropathy, was prescribed. Although MYH9-related disease is a rare cause of glomerulopathy and end-stage renal disease, awareness of rare genetic kidney disorders is essential to ensure accurate diagnosis and proper management of orphan disease patients.


2011 ◽  
Vol 2011 ◽  
pp. 1-2
Author(s):  
M. Malagola ◽  
M. Tiribelli ◽  
D. Russo ◽  
A. Candoni ◽  
G. Visani ◽  
...  

Myeloid Sarcoma may occur in patients with an acute or chronic myeloproliferative disorder as well as de novo, with no apparent sign or symptom of concomitant haematological disease. The patients are preferentially young male and the site of disease localization may vary from central nervous system to pleura and thorax, with a common involvement of the reticuloendothelial system. The disease often shows chromosomal rearrangements, involving chromosomes 7, 8 and 3 and sometimes a complex karyotype (more than 3 abnormalities) is detected at diagnosis. The prognosis of this disease is dismal and only high-dose chemotherapy with autologous or allogeneic stem cells transplantation (auto or allo-SCT) may be potentially curative. In the absence of definitive elements that can define the prognosis of extra-medullary localization of “standard risk” AML, Clinicians should pursue the collection of data from different Centres and design of homogeneous treatment strategies, that could integrate standard chemotherapy with specific approaches, such as radiotherapy, transplant procedures or, in selected cases (such as those displaying molecular abnormalities involving protein tyrosine-kinases), molecularly targeted therapies.


2018 ◽  
Vol 07 (03) ◽  
pp. 114-116 ◽  
Author(s):  
Stephanie Efthymiou ◽  
Vincenzo Salpietro ◽  
Conceicao Bettencourt ◽  
Henry Houlden

AbstractMutations in KAT6A encoding a histone acetyltransferase involved in chromatin remodeling and in other genes involved in histone acetylation and/or deacetylation have been implicated in broad phenotypes of congenital and developmental abnormalities. However, limited genotype–phenotype correlations are available for some of the most rare or recently reported genetic disorders related to chromatin dysregulation. We hereby report a de novo truncating mutation in KAT6A (c.3338C > G; p.S1113X) in a young male patient with intellectual disability associated with impaired speech and autistic features, who also presented with infantile seizures and a complex movement disorder phenotype with paroxysmal episodes of abnormal startle responses.


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