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2.
Orphanet J Rare Dis ; 17(1): 185, 2022 May 07.
Artigo em Inglês | MEDLINE | ID: mdl-35525997

RESUMO

BACKGROUND: Pseudoxanthoma elasticum (PXE, OMIM# 264800) is an inborn error of metabolism causing ectopic soft tissue calcification due to low plasma pyrophosphate concentration. We aimed to assess the prevalence of PXE in Finland and to characterize the Finnish PXE population. A nationwide registry search was performed to identify patients with ICD-10 code Q82.84. Information was gathered from available medical records which were requisitioned from hospitals and health centers. Misdiagnosed patients and patients with insufficient records were excluded. RESULTS: The prevalence of PXE in Finland was 1:260,000 with equal sex distribution. Patients with high conventional cardiovascular risk had more visual and vascular complications than patients with low risk. Four patients (19%) had at least one vascular malformation. A high proportion (33%) of ABCC6 genotypes were of the common homozygous c.3421C > T, p.Arg1141Ter variant. Nine other homozygous or compound heterozygous allelic variants were found. CONCLUSIONS: The prevalence of diagnosed PXE appears to be lower in Finland than in estimates from other countries. Decreased visual acuity is the most prevalent complication. We suggest that various vascular malformations may be an unrecognized feature of PXE.


Assuntos
Pseudoxantoma Elástico , Malformações Vasculares , Finlândia/epidemiologia , Genótipo , Humanos , Pseudoxantoma Elástico/epidemiologia , Sistema de Registros , Malformações Vasculares/epidemiologia
3.
Orphanet J Rare Dis ; 17(1): 189, 2022 May 07.
Artigo em Inglês | MEDLINE | ID: mdl-35526022

RESUMO

BACKGROUND: PROS disorders are driven by somatic, gain-of-function mutations in PIK3CA that result in hyperactivation of the phosphatidylinositol-3-kinase (PI3K) signaling pathway. PROS encompasses a broad spectrum of overlapping phenotypes (including overgrowth and vascular malformations) that vary significantly in their severity; every case is unique, leading to different, complex experiences. Here, we aim to describe the PROS experience from the patients' and caregivers' points of view, from onset to diagnosis to treatment and support. RESULTS: The PROS patient journey was developed using a literature review, an ethnography study, health care professional (HCP) research, and social listening. It was then validated with patients, caregivers, and patient advocates. Physician research included 94 PROS centers and other vascular anomaly centers throughout the United States and Europe. Ethnographic research included 24 patients, caregivers, and/or advocates; selected data from 223 patients were reviewed. Key priority areas of need were identified, along with barriers to and potential enablers of quality care. Visual mapping of the PROS patient and family journey was developed to identify key personal health and system issues, and opportunities for improvements throughout patients' lifespans. Maps were also developed for 3 specific conditions: Klippel-Trénaunay syndrome (K-T); congenital lipomatous overgrowth, vascular malformations, epidermal nevi, scoliosis/skeletal and spinal anomalies (CLOVES) syndrome; and megalencephaly-capillary malformation syndrome (M-CM). Overall, most patients with PROS conditions and their families struggle with a long path to diagnosis, access to genetic testing, and finding qualified specialists. Following diagnosis, patients and families are frequently challenged with major medical events, comorbidities, unpredictability, frequent hospitalization, impact on school and work, the need for multidisciplinary care, unwanted attention, adverse impact on mental and emotional health, and financial pressures. Lack of effective pain management emerged as a substantial issue. Challenges and barriers to quality care shift throughout patients' lifespans; transition from pediatric to adult care can be especially difficult. CONCLUSIONS: This patient journey in PROS was created in collaboration with patients, caregivers, and advocates as key partners. This novel methodology, which could be applied elsewhere, can more accurately identify areas of unmet need, barriers to care, education topics, and assist HCPs to understand the patient and family perspective.


Assuntos
Transição para Assistência do Adulto , Malformações Vasculares , Cuidadores , Criança , Classe I de Fosfatidilinositol 3-Quinases/genética , Classe I de Fosfatidilinositol 3-Quinases/metabolismo , Humanos , Lipoma , Anormalidades Musculoesqueléticas , Mutação , Nevo , Assistência Centrada no Paciente , Malformações Vasculares/genética
4.
Neurocirugia (Astur : Engl Ed) ; 33(3): 135-140, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35526944

RESUMO

Skull vault hemangiomas are benign vascular tumours of the calvaria that are usually asymptomatic or present as firm, painless lumps. We present a case of a 59-year-old female with a giant intraosseous calvarial hemangioma that was admitted in our department with a palpable mass over the left frontoparietal region, personality changes and impaired emotional and cognitive functions. The patient was treated with a two-step approach involving endovascular and surgical treatment, and suffered two rare, but recognized complications, a contrecoup intracerebral haemorrhage and valproate-induced stupor and parkinsonism. At the 6-month follow-up, the patient had complete recovery with a good neurological outcome.


Assuntos
Hemangioma Cavernoso , Hemangioma , Neoplasias Cranianas , Feminino , Hemangioma/complicações , Hemangioma/diagnóstico por imagem , Hemangioma/cirurgia , Hemangioma Cavernoso/patologia , Hemangioma Cavernoso/cirurgia , Humanos , Pessoa de Meia-Idade , Crânio/anormalidades , Crânio/diagnóstico por imagem , Crânio/patologia , Crânio/cirurgia , Neoplasias Cranianas/diagnóstico por imagem , Neoplasias Cranianas/patologia , Neoplasias Cranianas/cirurgia , Coluna Vertebral/anormalidades , Malformações Vasculares
5.
Arch Argent Pediatr ; 120(3): e133-e136, 2022 06.
Artigo em Espanhol | MEDLINE | ID: mdl-35533126

RESUMO

The ring-sling complex is an association between pulmonary artery sling and congenital tracheal stenosis. Pulmonary artery sling is a rare form of vascular ring in congenital heart disease. The clinical case of a child with inspiratory laryngeal stridor associated with respiratory distress is presented, evaluated in another center where respiratory endoscopy was performed, observing extrinsic tracheal compression. Given the clinical suspicion of a vascular ring, CT angiography was requested, confirming the diagnosis of pulmonary artery sling. He was referred to our hospital and during the surgical intervention a new respiratory endoscopy and tracheobronchography were performed, reaching the diagnosis of congenital tracheal stenosis, right accessory bronchus (pig bronchus) and complete vascular rings, both repaired in the same surgical act.


El complejo ring-sling es una asociación entre el sling de la arteria pulmonar y la estenosis traqueal congénita por anillos traqueales completos. El sling de la arteria pulmonar es una forma rara de anillo vascular dentro de las cardiopatías congénitas. Se presenta el caso clínico de un niño con estridor laríngeo asociado a dificultad respiratoria evaluado en otro centro, donde se realizó endoscopia respiratoria y se observó compresión traqueal extrínseca. Ante la sospecha clínica de anillo vascular, se solicitó angiotomografía computada (angioTC) y se confirmó diagnóstico de sling de arteria pulmonar. Fue derivado a nuestro hospital y durante la intervención quirúrgica se realizó nueva endoscopia respiratoria y traqueobroncografía. Se llegó al diagnóstico de estenosis traqueal congénita con bronquio derecho accesorio (pig bronchus) y anillos vasculares completos, ambos reparados en el mismo acto quirúrgico.


Assuntos
Broncopatias , Cardiopatias Congênitas , Doenças da Traqueia , Estenose Traqueal , Malformações Vasculares , Anel Vascular , Animais , Brônquios/anormalidades , Brônquios/cirurgia , Broncopatias/cirurgia , Criança , Constrição Patológica , Cardiopatias Congênitas/complicações , Humanos , Lactente , Masculino , Artéria Pulmonar/anormalidades , Suínos , Traqueia/anormalidades , Estenose Traqueal/diagnóstico , Estenose Traqueal/cirurgia , Malformações Vasculares/complicações , Anel Vascular/complicações
7.
HNO ; 70(5): 380-388, 2022 May.
Artigo em Alemão | MEDLINE | ID: mdl-35420312

RESUMO

BACKGROUND: A multitude of vascular anomalies exist and can lead to severe complications. Treatment can be complex. OBJECTIVE: This overview aims to provide important information for the management of vascular anomalies. MATERIALS AND METHODS: In addition to current literature, experiences from the interdisciplinary Vascular Anomalies Center in Marburg were included in this review. RESULTS: Hemangiomas at critical sites, arteriovenous malformations, and vascular anomalies of uncertain etiology require particular attention. CONCLUSION: Self-help and support groups, specialized interdisciplinary centers, scientific medical societies, and networks can provide help for the treatment of vascular anomalies.


Assuntos
Malformações Arteriovenosas , Hemangioma , Malformações Vasculares , Malformações Arteriovenosas/diagnóstico , Malformações Arteriovenosas/terapia , Hemangioma/diagnóstico , Hemangioma/terapia , Humanos , Malformações Vasculares/diagnóstico , Malformações Vasculares/terapia
8.
Port J Card Thorac Vasc Surg ; 29(1): 75-79, 2022 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-35471211

RESUMO

INTRODUCTION: A right aortic arch and agenesis of internal carotid artery (ICA) are both extremely rare vascular devel- opment anomalies. Etiology of the both anomalies might be associated with the abnormal regression of the dorsal aorta. Most cases of ICA are asymptomatic due to sufficient collateral circulation and it is usually an incident finding on head and neck imaging by color Doppler ultrasonography, computed tomography (CT) or magnetic resonance imaging (MRI). ICA agenesis has a significant association - 24-67% - with intracranial aneurysms and their early detection can spare the patient serious complications. CLINICAL CASE: A 28-year-old male had a single episode of hypertension that motivated the realization of several tests. During the investigation he was submitted to a duplex ultrasonography that revealed a diffuse narrowing of the left common carotid artery (CCA), with a markedly decrease in the peak systolic velocity and the absence of the left internal carotid artery (ICA) was suspected. Contrast-enhanced computed tomography (CT) demonstrated no abnormalities, such as cerebral infarc- tion or intracranial vascular malformations, but confirmed a right-sided aortic-arch, with anomalous origin of the left subcla- vian artery with a common origin of both CCAs and the absence of the left ICA. Examination of the head CT in bone window demonstrated an absence of the left internal carotid canal. CONCLUSION: This clinical case emphasizes the importance of recognizing this condition due to the associated hemody- namic changes and in order to discover and evaluate other additional vascular malformations (aneurysms, collateral channels) and their life threatening potential risks (subarachnoid hemorrhage or ischemia). Also, it has a special importance in case of planning carotid or trans-sphenoidal hypophyseal surgery. To our knowledge, only 8 cases have been reported right aortic arch associated with agenesis of the left internal carotid artery.


Assuntos
Doenças das Artérias Carótidas , Malformações Vasculares , Adulto , Aorta Torácica/diagnóstico por imagem , Doenças das Artérias Carótidas/complicações , Artéria Carótida Interna/diagnóstico por imagem , Humanos , Masculino , Tomografia Computadorizada por Raios X , Malformações Vasculares/complicações
10.
Am J Case Rep ; 23: e935337, 2022 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-35370285

RESUMO

BACKGROUND Extracranial arteriovenous malformations (AVMs) of the parotid gland and auricle are rarely encountered. Management of these AVMs depends on the Schobinger stage and their flow characteristics. We present a rare case of an AVM involving the parotid and auricle concurrently. The clinical and imaging features of these high-flow vascular malformations and their treatment options are discussed and we provide a review of the literature. CASE REPORT A 40-year-old woman presented with a large 6.4×6.0×13.0 cm high-flow Schobinger stage II high-flow AVM of the parotid gland and auricle. Diagnostic imaging included magnetic resonance imaging (MRI) and conventional catheter angiogram, which defined the vascular anatomy and flow characteristics of the AVM. She was treated with preoperative endovascular embolization followed by surgical excision and free-tissue transfer reconstruction on the next day. The results were excellent, with no recurrence over 3.5 years of follow-up. CONCLUSIONS This is the second case reported in the literature of high-flow AVM concurrently involving the parotid gland and auricle, treated with perioperative embolization followed by surgical excision and grafting. Management of AVMs requires a multidisciplinary team approach and understanding of the natural history of the lesion. Although total surgical resection is the criterion standard for these AVMs, endovascular embolization is an alternative treatment that can be used as an adjunct to surgery. Furthermore, perioperative embolization can decrease the vascularity of the lesion and effectively reduce blood loss during AVM surgery.


Assuntos
Malformações Arteriovenosas , Pavilhão Auricular , Embolização Terapêutica , Malformações Vasculares , Adulto , Angiografia , Malformações Arteriovenosas/diagnóstico por imagem , Malformações Arteriovenosas/terapia , Embolização Terapêutica/métodos , Feminino , Humanos
11.
Neural Plast ; 2022: 4280410, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35369646

RESUMO

Introduction: The association between arterial tortuosity and acute ischemic stroke (AIS) has been reported, but showing inconsistent results. We hypothesized that tortuosity of extra- and intracranial large arteries might be higher in AIS patients. Furthermore, we explored the correlation between artery tortuosity and white matter hyperintensity (WMH) severity in AIS patients. Methods: 166 AIS patients identified as large artery atherosclerosis, and 83 control subjects were enrolled. All subjects received three-dimensional computed tomography angiography (CTA). Arterial tortuosity was evaluated using the tortuosity index. WMHs were evaluated using magnetic resonance imaging in all AIS patients. Results: AIS patients showed significantly increased arterial tortuosity index relative to controls, including left carotid artery (CA) (p = 0.001), right CA (p < 0.001), left common carotid artery (CCA) (p < 0.001), right CCA (p < 0.001), left internal carotid artery (p = 0.001), right internal carotid artery (p = 0.01), left extracranial internal carotid artery (EICA) (p < 0.001), right EICA (p = 0.01), and vertebral artery dominance (VAD) (p = 0.001). The tortuosity of all above arteries was associated with the presence of AIS. AIS patients with moderate or severe WMHs had a higher tortuosity index in left CA (p = 0.005), left CCA (p = 0.003), left EICA (p = 0.07), and VAD (p = 0.001). In addition, the tortuosity of left EICA and VAD was associated with WMH severity in AIS patients. Conclusions: Increased extra- and intracranial large arteries tortuosity is associated with AIS. The tortuosity of left carotid artery system and vertebral artery may be the independent risk factors for WMH severity in AIS patients. Clinical Trial Registration. This trial is registered with NCT03122002 (http://www.clinicaltrials.gov).


Assuntos
AVC Isquêmico , Dermatopatias Genéticas , Substância Branca , Artérias/anormalidades , Artéria Carótida Interna , Humanos , AVC Isquêmico/diagnóstico por imagem , Instabilidade Articular , Malformações Vasculares , Substância Branca/diagnóstico por imagem
12.
Artigo em Inglês | MEDLINE | ID: mdl-35483878

RESUMO

The megalencephaly-capillary malformation (MCAP) syndrome is an overgrowth disorder caused by mosaic gain-of-function variants in PIK3CA It is characterized by megalencephaly or hemimegalencephaly, vascular malformations, somatic overgrowth, among other features. Epilepsy is commonly associated with MCAP, and a subset of individuals have cortical malformations requiring resective epilepsy surgery. Like other mosaic disorders, establishing a molecular diagnosis is largely achieved by screening lesional tissues (such as brain or skin), with a low diagnostic yield from peripheral tissues (such as blood). Therefore, in individuals with MCAP in whom lesional tissues are scarce or unavailable or those ineligible for epilepsy surgery, establishing a molecular diagnosis can be challenging. Here we report on the utility of cerebrospinal fluid (CSF)-derived cfDNA for the molecular diagnosis of an individual with MCAP syndrome harboring a mosaic PIK3CA variant (c.3139C > T, p.His1047Tyr). The proband presented with asymmetric megalencephaly without significant dysgyria. He did not have refractory epilepsy and was therefore not a candidate for epilepsy surgery. However, he developed diffuse large B-cell lymphoma (DLBCL) in late childhood, with four CSF samples obtained via lumbar puncture for cancer staging during which one sample was collected for cfDNA extraction and sequencing. PIK3CA variant allele fractions in CSF cell-free DNA (cfDNA), skin fibroblasts, and peripheral blood were 3.08%, 37.31%, and 2.04%, respectively. This report illustrates the utility of CSF-derived cfDNA in MCAP syndrome. Minimally invasive-based molecular diagnostic approaches utilizing cfDNA not only facilitate accurate genetic diagnosis but also have important therapeutic implications for individuals with refractory epilepsy as repurposed PI3K-AKT-MTOR pathway-inhibitors become more widely available.


Assuntos
Ácidos Nucleicos Livres , Epilepsia Resistente a Medicamentos , Megalencefalia , Anormalidades Múltiplas , Capilares/anormalidades , Ácidos Nucleicos Livres/genética , Criança , Classe I de Fosfatidilinositol 3-Quinases/genética , Humanos , Masculino , Megalencefalia/diagnóstico , Megalencefalia/genética , Mutação , Patologia Molecular , Fosfatidilinositol 3-Quinases/genética , Dermatopatias Vasculares , Síndrome , Telangiectasia/congênito , Malformações Vasculares
13.
BMJ Case Rep ; 15(4)2022 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-35470165

RESUMO

We report an extremely rare case of mesocardia with double inferior vena cava (IVC) in this case report. The patient's associated atrial septal defect (ASD) with left to right shunt leading to pulmonary congestion and recurrent episodes of pneumonia was the leading diagnosis for which care was sought at our hospital. The diagnoses of these rare congenital cardiac anomalies were uncovered only after a thorough workup. Mesocardia is extremely rare and accounts for only 0.2% of congenital anomalies. Its association with other cardiac and vascular anomalies, however, warrants a meticulous workup for the identification of such associated conditions-ASD and double IVC being two such anomalies in our patient. The dictum of working up a case of congenital cardiac anomaly for other congenital cardiaovascular anomalies, therefore, found merit in our case.


Assuntos
Cardiopatias Congênitas , Comunicação Interatrial , Malformações Vasculares , Coração , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/diagnóstico por imagem , Comunicação Interatrial/complicações , Comunicação Interatrial/diagnóstico por imagem , Humanos , Malformações Vasculares/complicações , Veia Cava Inferior/anormalidades , Veia Cava Inferior/diagnóstico por imagem
14.
Dermatol Clin ; 40(2): 127-136, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35366967

RESUMO

Improved understanding of the genetic basis of vascular anomalies has uncovered a growing need for targeted medical therapies. This is especially important for lesions not amenable to surgical interventions or interventional radiologic techniques. Recent studies and case reports have documented the effective use of tailored medical therapies in several distinct types of vascular anomalies. Sirolimus, mitogen-activated protein kinase inhibitors, and phosphoinositide 3-kinase inhibitors have emerged as potential therapies. Although this remains a growing field with significant knowledge gaps, a more optimistic outlook for patients with previously devastating impact on function and quality of life seems now within reach.


Assuntos
Fosfatidilinositol 3-Quinases , Malformações Vasculares , Genótipo , Humanos , Qualidade de Vida , Sirolimo , Malformações Vasculares/tratamento farmacológico , Malformações Vasculares/genética
16.
Int J Pediatr Otorhinolaryngol ; 156: 111096, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35334238

RESUMO

OBJECTIVES: Design and validate a novel handheld device for the autonomous diagnosis of pediatric vascular anomalies using a convolutional neural network (CNN). STUDY DESIGN: Retrospective, cross-sectional study of medical images. Computer aided design and 3D printed manufacturing. METHODS: We obtained a series of head and neck vascular anomaly images in pediatric patients from the database maintained in a large multidisciplinary vascular anomalies clinic. The database was supplemented with additional images from the internet. Four diagnostic classes were recognized in the dataset - infantile hemangioma, capillary malformation, venous malformation, and arterio-venous malformation. Our group designed and implemented a convolutional neural network to recognize the four classes of vascular anomalies as well as a fifth class consisting of none of the vascular anomalies. The system was based on the Inception-Resnet neural network using transfer learning. For deployment, we designed and built a compact, handheld device including a central processing unit, display subsystems, and control electronics. The device focuses upon and autonomously classifies pediatric vascular lesions. RESULTS: The multiclass system distinguished the diagnostic categories with an overall accuracy of 84%. The inclusion of lesion metadata improved overall accuracy to 94%. Sensitivity ranged from 88% (venous malformation) to 100% (arterio-venous malformation and capillary malformation). CONCLUSIONS: An easily deployed handheld device to autonomously diagnose pediatric skin lesions is feasible. Large training datasets and novel neural network architectures will be required for successful implementation.


Assuntos
Redes Neurais de Computação , Malformações Vasculares , Capilares/anormalidades , Criança , Estudos Transversais , Humanos , Estudos Retrospectivos , Malformações Vasculares/diagnóstico por imagem
17.
J Thromb Haemost ; 20(5): 1077-1088, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35343049

RESUMO

Vascular anomalies represent a diverse group of disorders classified broadly as malformations or tumors and include the second most common hereditary bleeding disorder worldwide, hereditary hemorrhagic telangiectasia (HHT). Patients with HHT and other vascular anomalies suffer morbid consequences of these diseases, including bleeding, thrombosis, anemia, localized intravascular coagulation, tissue overgrowth, infections, and other complications. The International Society for the Study of Vascular Anomalies (ISSVA) has developed a standard classification of these disorders, creating a uniform approach to their diagnosis, and the treatments for vascular anomalies are rapidly evolving. Recent discoveries have elucidated the molecular basis of a number of common and uncommon vascular anomalies. HHT occurs due to mutations in the transforming growth factor beta (TGF-ß) pathway, resulting in vascular endothelial growth factor excess. Complex vascular anomalies including Klippel-Trénaunay syndrome (KTS) and arteriovenous malformation (AVM) may occur due to mutations in the PI3K/AKT/mTOR and RAS/MAPK/MEK pathways. The discovery of the pathophysiologic mechanisms driving these diseases has led to improved phenotype-genotype correlation and the opportunity to target molecular pathways with medical therapies. Therefore, targeted agents have quickly become a standard of care in the treatment of vascular disorders (particularly HHT). Herein, we provide a case-based approach to the use of antiangiogenic therapies including bevacizumab and pazopanib for the treatment of bleeding in HHT and the use of mammalian target of rapamycin (sirolimus), PIK3CA (alpelisib), and MEK (trametinib) inhibitors in the treatment of complex vascular anomalies.


Assuntos
Telangiectasia Hemorrágica Hereditária , Malformações Vasculares , Humanos , Quinases de Proteína Quinase Ativadas por Mitógeno , Fosfatidilinositol 3-Quinases , Medicina de Precisão , Telangiectasia Hemorrágica Hereditária/diagnóstico , Telangiectasia Hemorrágica Hereditária/tratamento farmacológico , Telangiectasia Hemorrágica Hereditária/genética , Fator A de Crescimento do Endotélio Vascular , Malformações Vasculares/diagnóstico , Malformações Vasculares/genética , Malformações Vasculares/terapia
19.
Eur J Med Genet ; 65(5): 104472, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35351629

RESUMO

Cutis marmorata telangiectatica congenita (CMTC) is characterized by coarse-meshed capillary malformations arranged in asymmetrically distributed patches. The disorder may be associated with hyper- or hypoplastic limbs, syndactyly, cleft palate, and glaucoma. Because the disease usually occurs sporadically, the concept of a lethal mutation surviving by mosaicism was proposed about 30 years ago. Here we describe three children with CMTC due to a postzygotic GNA11 mutation c547C > T (p.Arg183Cys), documented in saliva (patient 1) or lesional cutaneous tissue (patients 2 and 3). All three individuals had widespread and asymmetric CMTC which was present from birth and became fainter during the first years of life. Variably associated anomalies included glaucoma, choroidal capillary malformation, and body asymmetry. In previous case reports, postzygotic GNA11 mutations were documented in two cases of phacomatosis cesiomarmorata, being characterized by CMTC coexisting with segmental dermal melanocytosis. Moreover, postzygotic GNA11 mutations were noted in two CMTC patients described under the incorrect diagnosis of "nevus vascularis mixtus". Hence, the present cases convincingly support the concept that CMTC can be caused by mosaic GNA11 mutations and thus belongs to the GNA11-Related Capillary Nevus (GNARCAN) spectrum. In two other bona fide cases of CMTC, however, we were unable to find a mutation in GNA11, which may be explained either by our inability to detect a very low percentage of mutant cells or by genetic heterogeneity of the phenotype.


Assuntos
Glaucoma , Nevo , Dermatopatias Vasculares , Telangiectasia , Capilares/anormalidades , Subunidades alfa de Proteínas de Ligação ao GTP , Humanos , Livedo Reticular , Mutação , Nevo/complicações , Dermatopatias Vasculares/complicações , Dermatopatias Vasculares/diagnóstico , Dermatopatias Vasculares/genética , Telangiectasia/congênito , Telangiectasia/genética , Malformações Vasculares
20.
Sci Rep ; 12(1): 5329, 2022 03 29.
Artigo em Inglês | MEDLINE | ID: mdl-35351920

RESUMO

Hepatopathies can cause major metabolic abnormalities in humans and animals. This study examined differences in serum metabolomic parameters and patterns in left-over serum samples from dogs with either congenital portosystemic shunts (cPSS, n = 24) or high serum liver enzyme activities (HLEA, n = 25) compared to control dogs (n = 64). A validated targeted proton nuclear magnetic resonance spectroscopy platform was used to assess 123 parameters. Principal component analysis of the serum metabolome demonstrated distinct clustering among individuals in each group, with the cluster of HLEA being broader compared to the other groups, presumably due to the wider spectrum of hepatic diseases represented in these samples. While younger and older adult control dogs had very similar metabolomic patterns and clusters, there were changes in many metabolites in the hepatopathy groups. Higher phenylalanine and tyrosine concentrations, lower branched-chained amino acids (BCAAs) concentrations, and altered fatty acid parameters were seen in cPSS dogs compared to controls. In contrast, dogs with HLEA had increased concentrations of BCAAs, phenylalanine, and various lipoproteins. Machine learning based solely on the metabolomics data showed excellent group classification, potentially identifying a novel tool to differentiate hepatopathies. The observed changes in metabolic parameters could provide invaluable insight into the pathophysiology, diagnosis, and prognosis of hepatopathies.


Assuntos
Doenças do Cão , Hepatopatias , Malformações Vasculares , Animais , Cães , Hepatopatias/veterinária , Metaboloma , Metabolômica
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