scholarly journals A rare case of discrete aortic coarctation in Williams-Beuren syndrome. Diagnostic and therapeutic considerations

2015 ◽  
Vol 37 (2) ◽  
Author(s):  
Savina Mannarino ◽  
Eitan Keizman ◽  
Michele Pasotti ◽  
Alessia Claudia Codazzi ◽  
Elisabetta De Sando ◽  
...  
Keyword(s):  
Aortic Coarctation ◽  
Genetic Disorder ◽  
Pulmonary Stenosis ◽  
Rare Event ◽  
Facial Dysmorphism ◽  
Gene Deletions ◽  
Genetic Syndrome ◽  
Surgical Interventions ◽  
Elastin Gene

Williams-Beuren syndrome (WBS) is a genetic disorder caused by elastin gene deletions, and is characterized by cardiovascular malformations, primarily including supravalvular aortic stenosis and peripheral pulmonary stenosis. We report a case of a neonate who developed severe discrete aortic coarctation, underwent multiple surgical interventions, and was subsequently diagnosed with WBS. Severe discrete aortic coarctation is a rare event in WBS newborns. An abnormally thick aortic wall is present in these patients and is the basis of the failure of the classical approach towards coarctation repair, which consists of end-to-end anastomosis as first surgical choice. Our case, and a very few similar previously documented cases, have all demonstrated recoarctation, which only aortic patch implantation was able to successfully repair. In light of this, we would also like to underline the importance of early WBS diagnosis. Therefore, even in mild syndromic phenotype such as low birth weight or facial dysmorphism that raise the suspicion of a genetic syndrome, it is advisable to perform fluorescent <em>in situ</em> hybridization analysis rather than merely karyotypic one.

Reconstructive Surgery in Children with Down's Syndrome: Bioethical Implications

2020 ◽  
Author(s):  
Cristina Tornali ◽  
Marcello Migliore ◽  
Agata Polizzi ◽  
Nicola L. Bragazzi ◽  
Mariano Martini ◽  
...  
Keyword(s):  
Cosmetic Surgery ◽  
Social Inclusion ◽  
Genetic Disorder ◽  
The United States ◽  
Chromosome 21 ◽  
Facial Dysmorphism ◽  
Surgical Interventions ◽  
Facial Plastic ◽  
The Face ◽  
Hypertension In Children

AbstractDown Syndrome is a genetic disorder caused by a third copy of chromosome 21. One of the main feature of the syndrome is the facial dysmorphism, characterized by broad, flat face, oblique eyelid rhymes, skin folds at the inner corner of the eyes (epicanthus), receding chin, protrusion of the tongue. These features are often social and functional obstacles, reducible with surgical interventions. The first facial plastic/cosmetic surgery approaches on Down children were performed in 1960 in Germany, Great Britain and the United States, where plastic surgeons began to reshape the Down patients physiognomy through the surgical correction of the face, tongue, eyes, nose, of the nostrils, of the neck. Recent studies have shown that in spite of the tendency to infections and early pulmonary hypertension in children with DS, surgery is not contraindicated, as previously suggested, but can be performed with very good results. This treatment has aesthetic, functional, rehabilitative, social effects, as well as favorable outcome on the familiar behavior. However different issues emerge in cases of patients presenting intellectual disability and unable to understand the consequences or the side effects related to plastic surgery. In this aspect, different Countries have enacted distinct laws directly regulating the consensuses for such intervention, with the goal to reduce the risks for the affected patients and the respect of their willing and social inclusion.

scholarly journals HHV8-Positive Castleman Disease and In Situ Mantle Cell Neoplasia within Dermatopathic Lymphadenitis, in Longstanding Psoriasis

Diagnostics ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 1150
Author(s):  
Magda Zanelli ◽  
Luca Stingeni ◽  
Maurizio Zizzo ◽  
Giovanni Martino ◽  
Francesca Sanguedolce ◽  
...  
Keyword(s):  
Mantle Cell Lymphoma ◽  
Cell Lymphoma ◽  
Rare Event ◽  
Castleman Disease ◽  
Axillary Lymph ◽  
Tnf Inhibitor ◽  
Dermatopathic Lymphadenitis ◽  
Multicentric Castleman Disease ◽  
Mantle Cell

A 73-year-old man presented with multiple lymphadenopathy. He had a 20-year history of palmoplantar psoriasis evolved to a diffuse erythrodermic picture in the last two years. Topic and systemic medications including prednisolone, acitretin, anti-IL17 (ixekizumab), TNF inhibitor (adalimumab), anti-IL23 (guselkumab), methotrexate, cyclosporine, and phosphodiesterase 4 inhibitor (apremilast) were ineffective. Repeated skin biopsies excluded mycosis fungoides, confirming psoriasis; molecular analysis of T-cell receptor genes ruled out clonality. The axillary lymph node histology documented a dermatopathic lymphadenitis, often associated with chronic cutaneous inflammatory diseases. At an accurate morphological evaluation, features of HHV8-positive multicentric Castleman disease were observed. Moreover, in a few follicles, in situ mantle cell neoplasia was identified. The translocation t(11;14)(q13;q32), characteristic of mantle cell lymphoma, and the monoclonal IGH gene rearrangement were present. HHV8 DNA was identified on plasma sample. Multicentric Castleman disease in psoriatic patients is a rare event and it might be favored by the immunomodulatory treatment in longstanding psoriasis. Multicentric Castleman disease patients are predisposed to developing simultaneous or subsequent lymphoma. In situ mantle cell neoplasia often behaves indolently, although it may progress to overt mantle cell lymphoma. Rituximab achieved a good control of psoriasis. Unfortunately, the patient developed Staphylococcus aureus sepsis for which he is currently on antibiotic therapy.

scholarly journals Renal and urinary findings in 20 patients with Williams-Beuren syndrome diagnosed by fluorescence in situ hybridization (FISH)

2004 ◽  
Vol 59 (5) ◽  
pp. 266-272 ◽  
Author(s):  
Sofia Mizuho Miura Sugayama ◽  
Vera Hermina Kalika Koch ◽  
Érica Arai Furusawa ◽  
Cláudio Leone ◽  
Chong Ae Kim
Keyword(s):  
In Situ Hybridization ◽  
Urinary Tract ◽  
Fluorescence In Situ Hybridization ◽  
Chromosome Region ◽  
Voiding Cystourethrogram ◽  
High Incidence ◽  
Hybridization Test ◽  
A Prospective Study ◽  
Elastin Gene

PURPOSE: Williams-Beuren syndrome is a rare multiple anomalies/mental retardation syndrome caused by deletion of contiguous genes at chromosome region 7q11.23. The aim of this work was to determine the frequency and the types of renal and urinary tract anomalies in 20 patients with Williams-Beuren syndrome. METHODS: The fluorescence in situ hybridization test using a LSI Williams syndrome region DNA probe was performed for all 20 patients to confirm the diagnosis of Williams-Beuren syndrome. A prospective study was performed in order to investigate renal and urinary aspects using laboratory assays to check renal function, ultrasonography of the kidneys and urinary tract, voiding cystourethrogram and urodynamics. RESULTS: Deletion of the elastin gene (positive fluorescence in situ hybridization test) was found in 17 out of 20 patients. Renal alterations were diagnosed in 5 of 17 (29%) the patients with the deletion and in 1 of 3 patients without the deletion. Fourteen patients with the deletion presented dysfunctional voiding. Arterial hypertension was diagnosed in 3 patients with deletions and 1 of these presented bilateral stenosis of the renal arteries. CONCLUSIONS: Due to the high incidence of renal and urinary abnormalities in Williams-Beuren syndrome, performing a systematic laboratory and sonographic evaluation of the patients is recommended.

scholarly journals Pitt–Hopkins syndrome with electrical stat us epileptic us in slo w-wave sleep: a case report

2019 ◽  
Vol 14 (2) ◽  
pp. 42-48
Author(s):  
N. G. Lyukshina
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Status Epilepticus ◽  
Neuronal Differentiation ◽  
Clinical Case ◽  
Genetic Disorder ◽  
Facial Dysmorphism ◽  
Autistic Behavior ◽  
Rare Genetic Disorder ◽  
Molecular Variant

Pitt–Hoppkins syndrome is rare genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. The syndrome is characterized by specific facial dysmorphism, phychomotor delay, autistic behavior and intellectual disability. Other associated features include ealy-onset myopia, seizures, constipation and hyperventilation-apneic spells. We introduced a clinical case of the patient with molecularly confirmed TCF4 variant and previously undescribed combination with syndrome of the electrical status epilepticus during sleep.

Humoral factor(s) produced by pressure overload enhance cardiac hypertrophy and natriuretic peptide expression

1997 ◽  
Vol 273 (1) ◽  
pp. H113-H118 ◽  
Author(s):  
T. Iso ◽  
M. Arai ◽  
A. Wada ◽  
K. Kogure ◽  
T. Suzuki ◽  
...  
Keyword(s):  
Cardiac Hypertrophy ◽  
Natriuretic Peptide ◽  
Aortic Coarctation ◽  
Pressure Overload ◽  
Humoral Factor ◽  
Myosin Isoforms ◽  
Hypertrophic Response ◽  
Cardiac Atrophy ◽  
Transplanted Hearts

Chronic pressure overload is known to increase cardiac mass and expression levels of both atrial natriuretic peptide (ANP) and brain natriuretic peptide (BNP) mRNAs. Although mechanical stretching of cardiac myocytes could cause these changes, humoral factor(s) secondary to pressure overload may also be involved. To dissociate humoral effects from the effects of mechanical loading on cardiac hypertrophic responses, we examined expression of ANP and BNP at both mRNA and protein levels and proportions of myosin isoforms in transplanted cervical hearts that were mechanically unloaded under conditions with or without hypertension by aortic coarctation. Seven days after transplantation, cardiac atrophy that usually occurs in transplanted hearts without hypertension by coarctation was prevented in the transplanted hearts with hypertension by coarctation. The levels of expression of ANP and BNP mRNAs were increased in the transplanted hearts with relative to those without hypertension by coarctation. The plasma level of angiotensin II was higher in rats with than without hypertension by coarctation. Plasma endothelin-1 levels were not significantly different between the two groups. In addition, levels of expression of ANP and BNP mRNAs were increased in the transplanted hearts without hypertension relative to those in the in situ hearts. The proportion of the V3 myosin isoform was also increased in the transplanted hearts without hypertension relative to the in situ hearts. These results indicate that humoral factor(s) secondary to the pressure overload produced by aortic coarctation enhanced the cardiac hypertrophic response and elevated the levels of mRNAs encoding these embryonic markers. Moreover, our findings regarding ANP and BNP expression in the transplanted hearts provide additional evidence that the fetal genes are reexpressed during the process of cardiac atrophy as well as in cardiac hypertrophy.

scholarly journals Massive splenic infarction in a patient with pneumococcal septic shock and unknown celiac disease

2017 ◽  
Vol 11 (4) ◽  
pp. 407 ◽  
Author(s):  
Alessandro Graziani ◽  
Pierpaolo Casalini ◽  
Federica Mirici Cappa ◽  
Francesco Albertini ◽  
Erica Fiorini ◽  
...  
Keyword(s):  
Septic Shock ◽  
Celiac Disease ◽  
Splenic Artery ◽  
Rare Event ◽  
Abdominal Ultrasound ◽  
Splenic Infarction ◽  
Healthy Patient ◽  
Pneumococcal Sepsis

Splenic infarction (SI) is a rare event occurring when the splenic artery or its branches become occluded by embolus or by in situ thrombosis. Many SI events are a result of embolic sources either cardiac or aortic. Massive splenic infarction (MSI) results from compromised blood flow to more than half of the spleen. In this paper we describe a case of a previously healthy patient who presented with pneumococcal sepsis who, upon investigation, revealed an unknown celiac disease and a MSI. Abdominal ultrasound with contrast agent was a useful tool for a diagnosis and follow up of this patient.

scholarly journals In situ reconstruction of an MRSA-infected paravisceral aortic pseudoaneurysm with cryopreserved aortic allograft

2019 ◽  
Vol 11 (2) ◽  
pp. 122-124
Author(s):  
Peter Banga ◽  
Peter Legeza ◽  
Zoltán Szeberin
Keyword(s):  
Care Center ◽  
Tertiary Care ◽  
Prosthetic Graft ◽  
Celiac Artery ◽  
Medical Documentation ◽  
Surgical Interventions ◽  
Aortic Pseudoaneurysm ◽  
Aortic Allograft ◽  
Aortic Replacement

Objectives Treatment of paravisceral aortic infections poses several challenges because standard therapy with excision of all infected tissues and extraanatomic reconstruction is frequently not possible without jeopardizing visceral perfusion. In situ reconstruction with rifampin-soaked prosthetic graft or endovascular repair with stent grafts runs the risk of reinfection. We present a case of a paravisceral aortic infection, where cryopreserved allograft was used for the reconstruction of the aorta. Methods Medical documentation and CT angiography studies were retrospectively reviewed for a patient in a tertiary care center. Results A 62-year-old male patient presented with an infected pseudoaneurysm of the paravisceral aorta at the level of the celiac artery. He had previously undergone multiple orthopedic surgical interventions and developed methicillin-resistant Staphylococcus aureus infections. We successfully repaired the paravisceral pseudoaneurysm with excision of all infected tissues and in situ aortic replacement with a cryopreserved allograft. Conclusion In case of infected aortic pseudoaneurysm, the use of cryopreserved aortic allograft is a reliable choice for reconstruction of the aorta.

scholarly journals Differential expression of KvLQT1 and its regulator IsK in mouse epithelia

2001 ◽  
Vol 280 (2) ◽  
pp. C359-C372 ◽  
Author(s):  
Sophie Demolombe ◽  
Diego Franco ◽  
Piet de Boer ◽  
Sabina Kuperschmidt ◽  
Dan Roden ◽  
...  
Keyword(s):  
Slow Component ◽  
Genetic Disorder ◽  
Expression Patterns ◽  
Resting Potential ◽  
Delayed Rectifier ◽  
Coding Region ◽  
Epithelial Tissues ◽  
In Situ Data ◽  
Adult Mice

KCNQ1 is the human gene responsible in most cases for the long QT syndrome, a genetic disorder characterized by anomalies in cardiac repolarization leading to arrhythmias and sudden death. KCNQ1 encodes a pore-forming K+channel subunit termed KvLQT1 which, in association with its regulatory β-subunit IsK (also called minK), produces the slow component of the delayed-rectifier cardiac K+ current. We used in situ hybridization to localize KvLQT1 and IsK mRNAs in various tissues from adult mice. We showed that KvLQT1 mRNA expression is widely distributed in epithelial tissues, in the absence (small intestine, lung, liver, thymus) or presence (kidney, stomach, exocrine pancreas) of its regulator IsK. In the kidney and the stomach, however, the expression patterns of KvLQT1 and IsK do not coincide. In many tissues, in situ data obtained with the IsK probe coincide with β-galactosidase expression in IsK-deficient mice in which the bacterial lacZgene has been substituted for the IsK coding region. Because expression of KvLQT1 in the presence or absence of its regulator generates a K+ current with different biophysical characteristics, the role of KvLQT1 in epithelial cells may vary depending on the expression of its regulator IsK. The high level of KvLQT1 expression in epithelial tissues is consistent with its potential role in K+secretion and recycling, in maintaining the resting potential, and in regulating Cl− secretion and/or Na+absorption.

A case of AndraStent® fracture in a patient with aortic coarctation: a review of the literature

2020 ◽  
Vol 30 (7) ◽  
pp. 1035-1038
Author(s):  
Giulio Cabrelle ◽  
Ornella Milanesi ◽  
Biagio Castaldi
Keyword(s):  
Ventricular Septal Defect ◽  
Abdominal Aorta ◽  
Aortic Coarctation ◽  
Septal Defect ◽  
Rare Event ◽  
Pressure Overload ◽  
Percutaneous Treatment ◽  
Covered Stent ◽  
Stent Fracture ◽  
Elastic Threshold

AbstractPercutaneous treatment of aortic coarctation is based on angioplasty and/or stenting of the isthmus. We report a case of a 28-year-old girl suffering from aortic coarctation syndrome (coarctation + ventricular septal defect + bicuspid aorta). She underwent coarctectomy with subclavian flap and pulmonary bandage followed by ventricular septal defect closure and bandage removal in her first year of life. When she was 27 years old, a follow-up echocardiography detected an isthmic pressure gradient and a demodulated Doppler in abdominal aorta. A cardiac catheterisation confirmed the diagnosis of aortic re-coarctation. An AndraStent® XL 48 mm was implanted with a resolution of the isthmic gradient. One year later, because of the reappearance of demodulated Doppler in abdominal aorta, a chest X-ray was performed, which showed a stent third-grade fracture. The fracture was corrected by positioning a covered stent cheatham platinum 45 mm through the fragments. The rarest complication after stenting procedures is the fracture of the device with an incidence between 0.01% and 0.08%. Pressure overload beyond the elastic threshold of the material and the pulsatile tension exerted by the blood flow on the walls of the stent are the main mechanisms at the base of the fracture, together with the compliance of the tissue. A vessel that underwent multiple surgical rearrangements could interfere with and complicate the physiopathology at the basis of the fracture. In conclusion, stenting is a safe technique to treat aortic coarctation; stent fracture is a rare event, and different anatomical and haemodynamic factors are related to this complication.

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