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1.
Chest ; 159(3): e167-e171, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33678287

RESUMO

CASE PRESENTATION: A 40-year-old woman presented with recurrent syncope. She reported multiple (>20) episodes of non-prodromal loss of consciousness, periodically provoked by physical exertion. One episode resulted in a nasal fracture due to the abrupt nature of her syncope. The characterization of each episode was inconsistent with a neurogenic seizure. Other causes of syncope (vasovagal, situational, carotid hypersensitivity, and orthostasis) were also deemed unlikely. On physical examination, a low-pitched, brief adventitious sound was appreciated after each S2 sound in the right lower sternal border. The remainder of the physical examination was unremarkable. Initial workup, including complete blood count, comprehensive metabolic panel, cardiac enzymes, and ECG yielded normal results. The chest radiograph did not show any gross cardiac or pulmonary parenchymal pathologic condition (Fig 1). Telemetry did not demonstrate any malignant arrhythmias, and video-guided EEG did not document any seizure activity.


Assuntos
Coristoma , Dissecação/métodos , Eletrocardiografia/métodos , Átrios do Coração/diagnóstico por imagem , Cardiopatias , Fígado , Síncope , Adulto , Coristoma/diagnóstico por imagem , Coristoma/fisiopatologia , Coristoma/cirurgia , Diagnóstico Diferencial , Eletroencefalografia/métodos , Feminino , Cardiopatias/diagnóstico , Cardiopatias/fisiopatologia , Cardiopatias/cirurgia , Humanos , Exame Físico/métodos , Recidiva , Síncope/diagnóstico , Síncope/etiologia , Síncope/fisiopatologia , Resultado do Tratamento , Veia Cava Inferior/diagnóstico por imagem
2.
J Dev Orig Health Dis ; 12(6): 952-962, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-33349286

RESUMO

Intrauterine growth restriction (IUGR) due to uteroplacental insufficiency results in a placenta that is unable to provide adequate nutrients and oxygen to the fetus. These growth-restricted babies have an increased risk of hypertension and chronic kidney disease later in life. In rats, both male and female growth-restricted offspring have nephron deficits but only males develop kidney dysfunction and high blood pressure. In addition, there is transgenerational transmission of nephron deficits and hypertension risk. Therefore, epigenetic mechanisms may explain the sex-specific programming and multigenerational transmission of IUGR-related phenotypes. Expression of DNA methyltransferases (Dnmt1and Dnmt3a) and imprinted genes (Peg3, Snrpn, Kcnq1, and Cdkn1c) were investigated in kidney tissues of sham and IUGR rats in F1 (embryonic day 20 (E20) and postnatal day 1 (PN1)) and F2 (6 and 12 months of age, paternal and maternal lines) generations (n = 6-13/group). In comparison to sham offspring, F1 IUGR rats had a 19% decrease in Dnmt3a expression at E20 (P < 0.05), with decreased Cdkn1c (19%, P < 0.05) and increased Kcnq1 (1.6-fold, P < 0.01) at PN1. There was a sex-specific difference in Cdkn1c and Snrpn expression at E20, with 29% and 34% higher expression in IUGR males compared to females, respectively (P < 0.05). Peg3 sex-specific expression was lost in the F2 IUGR offspring, only in the maternal line. These findings suggest that epigenetic mechanisms may be altered in renal embryonic and/or fetal development in growth-restricted offspring, which could alter kidney function, predisposing these offspring to kidney disease later in life.


Assuntos
Retardo do Crescimento Fetal/fisiopatologia , Rim/crescimento & desenvolvimento , Animais , Coristoma/genética , Coristoma/patologia , Coristoma/fisiopatologia , Modelos Animais de Doenças , Epigênese Genética/fisiologia , Feminino , Rim/patologia , Rim/fisiopatologia , Gravidez , Ratos , Ratos Wistar
3.
Clin. biomed. res ; 41(4): 368-370, 2021.
Artigo em Português | LILACS | ID: biblio-1349410

RESUMO

A heterotopia pancreática é definida como a presença de tecido pancreático em localização topográfica anômala. Essa patologia pode acometer variadas estruturas da cavidade abdominal, mas raramente manifesta-se na vesícula biliar. Até o momento, menos de 40 casos de heterotopia pancreática em vesícula biliar foram relatados na literatura médica. Apresentamos um caso de uma mulher de 25 anos, que realizou uma colecistectomia videolaparoscópica por colelitíase, com exame anatomopatológico que identificou uma heterotopia pancreática. Apesar de rara, a doença deve ser considerada em pacientes com sintomatologia de doenças da via biliar e de doenças pancreáticas e sem diagnóstico após uma investigação de rotina, tendo em vista que o tecido pancreático ectópico está sujeito às mesmas alterações patológicas, manifestações clínicas e complicações encontradas no próprio pâncreas. (AU)


Heterotopic pancreas is defined as the presence of pancreatic tissue at an anomalous location. This condition may affect multiple structures in the abdominal cavity but rarely appears in the gallbladder. To date, fewer than 40 cases of heterotopic pancreas in the gallbladder have been reported in the medical literature. We present a case of a 25 year-old woman who underwent a laparoscopic cholecystectomy for cholelithiasis, with a pathology test that detected heterotopic pancreas. Despite its rarity, this disease must be considered in cases of corresponding symptoms without a diagnosis after a routine evaluation, considering that ectopic pancreatic tissue is exposed to the same pathological alterations, clinical manifestations, and complications found in the pancreas. (AU)


Assuntos
Humanos , Feminino , Adulto , Pâncreas , Coristoma/diagnóstico por imagem , Vesícula Biliar , Coristoma/fisiopatologia , Colecistectomia Laparoscópica
4.
Urology ; 140: 162-164, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32068109

RESUMO

As far as we know this is the first report on bulking agent injection into intravesical ectopic ejaculatory orifices reported in the English literature. During a follow-up period of 23 months, the child was free of episodes of epididymo-orchitis. Deflux injection in this rare anomaly of intravesical refluxing ducts had prevented irreversible damage to the testes from recurrent EO. Thus, it may be a better option than vasectomy when antibiotic treatment fails.


Assuntos
Malformações Anorretais , Coristoma , Dextranos/administração & dosagem , Ductos Ejaculatórios , Epididimite , Ácido Hialurônico/administração & dosagem , Orquite , Doenças da Bexiga Urinária , Malformações Anorretais/complicações , Malformações Anorretais/cirurgia , Pré-Escolar , Coristoma/complicações , Coristoma/diagnóstico , Coristoma/fisiopatologia , Coristoma/terapia , Cistoscopia/métodos , Epididimite/etiologia , Epididimite/prevenção & controle , Humanos , Masculino , Orquite/etiologia , Orquite/prevenção & controle , Soluções Esclerosantes/administração & dosagem , Resultado do Tratamento , Doenças da Bexiga Urinária/complicações , Doenças da Bexiga Urinária/patologia , Doenças da Bexiga Urinária/fisiopatologia , Doenças da Bexiga Urinária/terapia , Urodinâmica
5.
Neurosci Lett ; 722: 134835, 2020 03 23.
Artigo em Inglês | MEDLINE | ID: mdl-32057925

RESUMO

The formation of the neuromuscular junction (nmj) is based on molecular cascades initiated by neural agrin as well as electrical activity in the neuromuscular structures. This review focuses on the latter factor, emphasizing the multiplicity of its mechanisms in the process of synapse elimination following initial polyneuronal innervation. Pre- and post-synaptic components of activity have in fact been identified through experiments on an adult model of nmj formation: ectopic reinnervation of the rat soleus muscle by the fibular nerve. Two activity-dependent elimination processes are thus compared: competition between distributed nmjs, which depends on evoked muscle impulse activity, and competition between axons converging on single nmjs, which instead depends on differences in the timing of impulses in the converging axons.


Assuntos
Potenciais de Ação/fisiologia , Músculo Esquelético/inervação , Músculo Esquelético/fisiologia , Junção Neuromuscular/fisiologia , Sinapses/fisiologia , Animais , Coristoma/fisiopatologia , Humanos , Fibras Musculares Esqueléticas/fisiologia
6.
Curr Med Imaging Rev ; 15(10): 1001-1005, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-32008528

RESUMO

BACKGROUND: Supernumerary kidney is an accessory organ with its own encapsulated parenchyma, blood vessels and ureters, either separated from the normal kidney or connected to it via fibrous tissue and ectopic kidney is a migration abnormality of the kidney. Here, we have evaluated a rare case of the supernumerary and ectopic kidney with DMSA, MAG3 and also CT fusion of the images. METHODS: The absolute divided renal function was calculated for each kidney by DMSA. The MAG3 scintigraphy showed no obstruction in the ureteropelvic junction. Furthermore, the renogram curve and Tmax and time to ½ values were assessed. Two months after the conventional scintigraphies, the patient was referred to a CT scan and the fusion of DMSA SPECT and CT data was generated on a workstation. RESULTS: The ectopic supernumerary kidney was functioning very well except a small hypoactive area, visible on DMSA, which was possibly a minimal pelvicalyceal dilatation. However, consequent CT scan did not show any pathology. CONCLUSION: It is important to evaluate particularly complicated or rare cases with multimodality systems with 3D or fusion techniques for the accurate diagnosis.


Assuntos
Coristoma/fisiopatologia , Rim , Pelve , Adulto , Coristoma/diagnóstico por imagem , Coristoma/metabolismo , Feminino , Humanos , Pelve/diagnóstico por imagem , Tomografia por Emissão de Pósitrons , Compostos Radiofarmacêuticos/farmacocinética , Ácido Dimercaptossuccínico Tecnécio Tc 99m/farmacocinética , Tecnécio Tc 99m Mertiatida/farmacocinética , Ultrassonografia
9.
Epilepsia ; 58(12): 2112-2123, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-28983921

RESUMO

OBJECTIVE: Defining the roles of heterotopic and normotopic cortex in the epileptogenic networks in patients with nodular heterotopia is challenging. To elucidate this issue, we compared heterotopic and normotopic cortex using quantitative signal analysis on stereoelectroencephalography (SEEG) recordings. METHODS: Clinically relevant biomarkers of epileptogenicity during ictal (epileptogenicity index; EI) and interictal recordings (high-frequency oscillation and spike) were evaluated in 19 patients undergoing SEEG. These biomarkers were then compared between heterotopic cortex and neocortical regions. Seizures were classified as normotopic, heterotopic, or normoheterotopic according to respective values of quantitative analysis (EI ≥0.3). RESULTS: A total of 1,246 contacts were analyzed: 259 in heterotopic tissue (heterotopic cortex), 873 in neocortex in the same lobe of the lesion (local neocortex), and 114 in neocortex distant from the lesion (distant neocortex). No significant difference in EI values, high-frequency oscillations, and spike rate was found comparing local neocortex and heterotopic cortex at a patient level, but local neocortex appears more epileptogenic (p < 0.001) than heterotopic cortex analyzing EI values at a seizure level. According to EI values, seizures were mostly normotopic (48.5%) or normoheterotopic (45.5%); only 6% were purely heterotopic. A good long-term treatment response was obtained in only two patients after thermocoagulation and surgical disconnection. SIGNIFICANCE: This is the first quantitative SEEG study providing insight into the mechanisms generating seizures in nodular heterotopia. We demonstrate that both the heterotopic lesion and particularly the normotopic cortex are involved in the epileptogenic network. This could open new perspectives on multitarget treatments, other than resective surgery, aimed at modifying the epileptic network.


Assuntos
Córtex Cerebral , Coristoma/fisiopatologia , Eletroencefalografia/métodos , Epilepsia/fisiopatologia , Adolescente , Adulto , Idade de Início , Biomarcadores , Criança , Coristoma/complicações , Coristoma/cirurgia , Estudos de Coortes , Eletrocoagulação , Epilepsia/etiologia , Epilepsia/cirurgia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Rede Nervosa/fisiopatologia , Rede Nervosa/cirurgia , Procedimentos Neurocirúrgicos , Convulsões/fisiopatologia , Adulto Jovem
10.
Saudi J Kidney Dis Transpl ; 28(2): 330-335, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28352016

RESUMO

Urological anomalies can be seen in children with renal ectopia (RE) and can result in renal impairment. Therefore, we evaluated associated anomalies and renal outcome in our patients with RE. Sixty-eight children who were diagnosed with RE between January 2009-May 2014 were retrospectively studied. A total of 68 patients, 36 (52.9%) boys, with a median age of 67 months (4-201) and a median follow-up period of 14 months (3-113) were included in the study. Simple RE (S-RE) was found in 51 (75%) patients, of which 46 were unilateral and five were bilateral (discoid kidney). Crossed RE (C-RE) was detected in 17 (25%) patients. Voiding cystourethrogram was performed in 21/51 (41.2%) patients in S-RE group and 5/17 (29.4%) in C-RE group. We did not find vesicoureteral reflux (VUR) in any of the patients with C-RE, whereas, in S-RE group, VUR was demonstrated in six (6/21 - 28.6%) patients. Pelviureteric junction obstruction in ectopic kidney was found in two patients with S-RE and one with C-RE. Two patients (2/17 - 11.7%) had neurogenic bladder due to meningomyelocele, accompanied by imperforate anus in C-RE group. There were no significant differences in other associated urological anomalies between two groups. Renal impairment developed mostly in patients with additional urinary anomaly. The children with RE may have associated urinary anomalies, of which VUR is the most common. Complete urological investigation and regular follow-up are required in selected cases.


Assuntos
Coristoma/epidemiologia , Rim , Anormalidades Urogenitais/epidemiologia , Adolescente , Anus Imperfurado/epidemiologia , Criança , Pré-Escolar , Coristoma/diagnóstico , Coristoma/fisiopatologia , Feminino , Humanos , Lactente , Masculino , Meningomielocele/epidemiologia , Estudos Retrospectivos , Turquia/epidemiologia , Obstrução Ureteral/epidemiologia , Bexiga Urinaria Neurogênica/epidemiologia , Anormalidades Urogenitais/diagnóstico , Anormalidades Urogenitais/fisiopatologia , Refluxo Vesicoureteral/epidemiologia
11.
Acta Gastroenterol Belg ; 80(3): 388-395, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29560669

RESUMO

Ectopic varices are dilated portosystemic venous collaterals located outside of the gastro-esophageal region. Whereas they are common endoscopic findings in patients with portal hypertension, ectopic variceal bleeding is rather rare and accounts for only 1 to 5 % of all variceal bleedings. The rectum and the duodenum are the most common sites for ectopic varices, but they can be present along the whole intestinal tract and neighborhood. At present, there is no consensus well established on diagnostic workup for ectopic variceal bleeding and their therapeutic strategies. Further investigation of large series or randomized-controlled trials is needed because nowadays most of the data available are based on case reports. We report here an unusual case of an ectopic variceal bleeding, presented as an acute small intestine bleeding, due to a portosystemic shunt via dilated mesenteric veins and a varicous left ovarian vein in a patient with alcoholic cirrhosis. The involvement of an ovarian vein in ectopic variceal bleeding is rarely described.


Assuntos
Coristoma , Circulação Colateral , Endoscopia Gastrointestinal/métodos , Hemorragia Gastrointestinal , Cirrose Hepática Alcoólica , Veias Mesentéricas , Varizes , Coristoma/diagnóstico , Coristoma/fisiopatologia , Gerenciamento Clínico , Feminino , Hemorragia Gastrointestinal/diagnóstico , Hemorragia Gastrointestinal/etiologia , Hemorragia Gastrointestinal/fisiopatologia , Hemorragia Gastrointestinal/terapia , Humanos , Cirrose Hepática Alcoólica/diagnóstico , Cirrose Hepática Alcoólica/fisiopatologia , Veias Mesentéricas/patologia , Veias Mesentéricas/fisiopatologia , Pessoa de Meia-Idade , Ovário/irrigação sanguínea , Circulação Esplâncnica , Varizes/diagnóstico por imagem , Varizes/etiologia , Varizes/patologia , Varizes/fisiopatologia
12.
Vestn Otorinolaringol ; 81(5): 33, 2016.
Artigo em Russo | MEDLINE | ID: mdl-27876733

RESUMO

This paper was designed to report a rare observation of intralaryngeal aberrant goiter associated with goiter of the main thyroid tissue and chronic suppurative otitis media complicated by the polyp that causes occlusion of the auditory passage. The histomorphological investigation of the material harvested intraoperatively following rehabilitation of the purulent focus in the middle ear and the removal of the tumour from the inside of the right vestibular fold confirmed the diagnosis of colloid goiter.


Assuntos
Antibacterianos/uso terapêutico , Coristoma , Bócio , Doenças da Laringe , Otite Média com Derrame , Procedimentos Cirúrgicos Otorrinolaringológicos/métodos , Glândula Tireoide , Adulto , Coristoma/diagnóstico por imagem , Coristoma/fisiopatologia , Coristoma/cirurgia , Feminino , Bócio/diagnóstico por imagem , Bócio/fisiopatologia , Bócio/cirurgia , Humanos , Doenças da Laringe/diagnóstico , Doenças da Laringe/etiologia , Doenças da Laringe/fisiopatologia , Doenças da Laringe/cirurgia , Otite Média com Derrame/diagnóstico , Otite Média com Derrame/etiologia , Otite Média com Derrame/fisiopatologia , Otite Média com Derrame/cirurgia , Resultado do Tratamento
13.
Ter Arkh ; 88(2): 71-74, 2016.
Artigo em Russo | MEDLINE | ID: mdl-27030187

RESUMO

Duodenal dystrophy (DD) is the pathological change in the wall of the duodenum, which is caused by chronic inflammation in its ectopic pancreatic tissue. The most common complications of DD are acute or chronic pancreatitis and impaired duodenal patency, which along with severe pain are an indication for surgical treatment. Pancreaticoduodenal resection is recognized as the operation of choice. The paper describes a clinical case demonstrating the efficiency and safety of minimally invasive (laparoscopic) surgical technologies in this category of patients. Resectional interventions of this volume are also shown to be accompanied by the development of pancreatic insufficiency that necessitates continuous enzyme replacement therapy.


Assuntos
Duodenopatias , Duodeno/patologia , Insuficiência Pancreática Exócrina , Pâncreas/patologia , Pancreatectomia/métodos , Pancreatina/uso terapêutico , Pancreatite Crônica , Complicações Pós-Operatórias/tratamento farmacológico , Adulto , Atrofia , Coristoma/diagnóstico , Coristoma/fisiopatologia , Duodenopatias/complicações , Duodenopatias/diagnóstico , Duodenopatias/fisiopatologia , Terapia de Reposição de Enzimas , Insuficiência Pancreática Exócrina/tratamento farmacológico , Insuficiência Pancreática Exócrina/etiologia , Fármacos Gastrointestinais/uso terapêutico , Humanos , Laparoscopia/métodos , Masculino , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Pancreatite Crônica/diagnóstico , Pancreatite Crônica/etiologia , Pancreatite Crônica/fisiopatologia , Pancreatite Crônica/cirurgia , Resultado do Tratamento
14.
PLoS One ; 11(2): e0150212, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26913509

RESUMO

This retrospective study aimed to identify if the existence of the accessory parotid gland correlated with the etiology of parotitis. This may aid the development of better treatment strategies in the future. Sialographic features of cases with parotitis and healthy subjects were reviewed. The chi-square test was used to compare the incidence of accessory parotid gland between the groups. The Student's t test was used to compare the length of Stensen's duct, the length from the orifice to the confluence of the accessory duct, and the angle between the accessory duct and Stensen's duct between the groups. The incidence of accessory parotid gland in patients with parotitis was 71.8% (28/39), which was significantly higher than that in healthy subjects (P = 0.005). Patients with parotitis had a longer Stensen's duct than healthy subjects (P = 0.003). There was no significant difference in the length from the orifice to the confluence of the accessory duct or the angle between the accessory duct and Stensen's duct (P = 0.136 and 0.511, respectively) between the groups. The accessory parotid gland might play a role in the pathogenesis of parotitis. The existence of an accessory parotid gland is likely to interfere with salivary flow. Computational fluid dynamics analysis of salivary flow in the ductal system would be useful in future etiologic studies on parotitis.


Assuntos
Coristoma/fisiopatologia , Tomografia Computadorizada de Feixe Cônico , Glândula Parótida , Parotidite/etiologia , Ductos Salivares/fisiopatologia , Sialografia , Adulto , Antropometria , Coristoma/diagnóstico por imagem , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Incidência , Masculino , Glândula Parótida/diagnóstico por imagem , Glândula Parótida/fisiopatologia , Parotidite/diagnóstico por imagem , Parotidite/fisiopatologia , Estudos Retrospectivos , Reologia , Ductos Salivares/patologia , Salivação , Adulto Jovem
15.
Childs Nerv Syst ; 32(2): 377-80, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26231566

RESUMO

INTRODUCTION: We report the case of a 2-year-old boy who showed a huge midline mass in the brain at prenatal assessment. CASE REPORT: After birth, magnetic resonance imaging (MRI) revealed a conglomerate mass with an infolded microgyrus at the midline, which was suspected as a midline brain-in-brain malformation. MRI also showed incomplete cleavage of his frontal cortex and thalamus, consistent with lobar holoprosencephaly. The patient underwent an incisional biopsy of the mass on the second day of life. The mass consisted of normal central nervous tissue with gray and white matter, representing a heterotopic brain. The malformation was considered to be a subcortical heterotopia. With maturity, focal signal changes and decreased cerebral perfusion became clear on brain imaging, suggesting secondary glial degeneration. Coincident with these MRI abnormalities, the child developed psychomotor retardation and severe epilepsy focused on the side of the intracranial mass.


Assuntos
Encéfalo/fisiopatologia , Coristoma/fisiopatologia , Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/fisiopatologia , Epilepsia/fisiopatologia , Holoprosencefalia/fisiopatologia , Encéfalo/patologia , Pré-Escolar , Coristoma/complicações , Coristoma/patologia , Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/complicações , Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/patologia , Eletroencefalografia , Epilepsia/etiologia , Feminino , Holoprosencefalia/complicações , Holoprosencefalia/patologia , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Gravidez , Transtornos Psicomotores/etiologia , Ultrassonografia Pré-Natal
16.
J Dent Res ; 95(3): 292-301, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26534931

RESUMO

Heterotopic cartilage develops in certain pathologic conditions, including those affecting the human temporomandibular joint (TMJ), but the underlying molecular mechanisms remain obscure. This is in part due to the fact that a reliable animal model of such TMJ diseases is not available. Here, we show that aberrant chondrocyte differentiation and ectopic cartilage formation occur spontaneously in proteoglycan 4 (Prg4) mutant TMJ discs without further invasive procedure. By 2 mo of age, mutant disc cells displayed chondrocyte transdifferentiation, accompanied by strong expression of cartilage master gene Sox9 and matrix genes aggrecan and type II collagen. By 6 mo, heterotopic cartilage had formed in the discs and expressed cartilage hypertrophic markers Runx2 and ColX. The ectopic tissue grew in size over time and exhibited regional mineralization by 12 mo. Bone morphogenetic protein (BMP) signaling was activated with the ectopic chondrogenic cells and chondrocytes, as indicated by phosphorylated Smad 1/5/8 nuclear staining and by elevated expression of Bmp2, Bmpr1b, Bmpr2, and BMP signaling target genes. Likewise, we found that upon treatment with recombinant human BMP 2 in high-density micromass culture, mutant disc cells differentiated into chondrocytes and synthesized cartilage matrix more robustly than control cells. Importantly, a specific kinase inhibitor of BMP receptors drastically attenuated chondrogenesis in recombinant human BMP 2-treated mutant disc cultures. Unexpectedly, we found that Prg4 was expressed at joint-associated sites, including disc/muscle insertion and muscle/bone interface, and all these structures were abnormal in Prg4 mutants. Our data indicate that Prg4 is needed for TMJ disc integrity and function and that its absence leads to ectopic chondrogenesis and cartilage formation in conjunction with abnormal BMP signaling. Our findings imply that the BMP signaling pathway could be a potential therapeutic target for prevention or inhibition of ectopic cartilage formation in TMJ disease.


Assuntos
Proteínas Morfogenéticas Ósseas/fisiologia , Condrogênese/fisiologia , Coristoma/fisiopatologia , Proteoglicanas/genética , Transdução de Sinais/fisiologia , Disco da Articulação Temporomandibular/fisiopatologia , Agrecanas/análise , Animais , Proteína Morfogenética Óssea 2/farmacologia , Receptores de Proteínas Morfogenéticas Ósseas Tipo I , Receptores de Proteínas Morfogenéticas Ósseas Tipo II/análise , Calcificação Fisiológica/fisiologia , Diferenciação Celular/genética , Transdiferenciação Celular/genética , Condrócitos/fisiologia , Colágeno Tipo II/análise , Colágeno Tipo X/análise , Subunidade alfa 1 de Fator de Ligação ao Core/análise , Camundongos , Mutação/genética , Proteoglicanas/análise , Proteínas Recombinantes/farmacologia , Fatores de Transcrição SOX9/análise , Proteína Smad1/análise , Proteína Smad5/análise , Proteína Smad8/análise , Técnicas de Cultura de Tecidos , Fator de Crescimento Transformador beta/farmacologia
17.
World Neurosurg ; 84(1): 189.e13-8, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25727303

RESUMO

BACKGROUND: Instances of ectopic salivary gland tissue within the pituitary gland are rare, they are mostly asymptomatic, and the underlying pathophysiology of symptomatic cases is unclear. We report a case of intrasellar salivary gland rest that presented clinical symptoms and clearly related to inflammatory changes. CASE DESCRIPTION: In the present case, headache, bitemporal hemianopia, and hormone abnormality led to the detection of ectopic salivary gland tissue within the pituitary gland of a 24-year-old man. Imaging revealed a well-circumscribed intrasellar cystic lesion having a diameter of major axis of 16 mm, for which tumorectomy was performed using the nasal approach. The tumor was cystic with stringy content. Pathologic findings revealed that the lesion was composed principally of secretions lacking cell components, whereas the salivary gland tissue was found in the cyst wall. Dilated ducts due to the leakage of secretions were also observed. Acute and chronic inflammation was present around the salivary gland. CONCLUSIONS: Not only are instances of symptomatic ectopic salivary glands rare, but this was also the first case detected to be caused by the pathophysiology involving the leakage of secretions from an ectopic salivary gland and associated inflammation. We report this case to help elucidate the pathophysiology of the condition.


Assuntos
Coristoma/diagnóstico , Inflamação , Doenças da Hipófise/diagnóstico , Glândulas Salivares , Sela Túrcica/patologia , Adulto , Coristoma/sangue , Coristoma/complicações , Coristoma/patologia , Coristoma/fisiopatologia , Cefaleia/etiologia , Hemianopsia/etiologia , Humanos , Inflamação/patologia , Inflamação/fisiopatologia , Imageamento por Ressonância Magnética , Masculino , Doenças da Hipófise/sangue , Doenças da Hipófise/complicações , Doenças da Hipófise/patologia , Doenças da Hipófise/fisiopatologia , Hormônios Hipofisários/sangue
18.
Retin Cases Brief Rep ; 9(3): 239-41, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25790319

RESUMO

PURPOSE: To report a case of bilateral choroidal osteoma, which demonstrated different visual outcomes in both eyes over a long follow-up of 45 years. METHODS: Case report. RESULTS: After 45 years of follow-up, choroidal osteoma showed slight enlargement in each eye and choroidal neovascularization and retinal pigment epithelium (RPE) changes had developed in the right eye. Visual acuity of the right eye was decreased to 20/200 from macular RPE loss and choroidal neovascularization scarring. The left eye preserved a visual acuity of 20/30 where choroidal osteoma demonstrated only partial decalcification of the nasal margin with preservation of RPE in the macular region. Spectral domain optical coherence tomography of the right macula confirmed broad RPE and choroidal atrophy and scarring related to previous choroidal neovascularization. Spectral domain optical coherence tomography of the left macula showed preserved retinal layers and RPE with underlying calcified choroidal osteoma. CONCLUSION: Choroidal osteoma can occasionally demonstrate intact calcification, preserved RPE, and photoreceptors with excellent vision.


Assuntos
Coristoma/fisiopatologia , Neoplasias da Coroide/fisiopatologia , Descalcificação Patológica/fisiopatologia , Osteoma/fisiopatologia , Acuidade Visual/fisiologia , Feminino , Seguimentos , Humanos , Epitélio Pigmentado da Retina , Fatores de Tempo , Adulto Jovem
19.
Endocr Pract ; 21(6): 574-80, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25667378

RESUMO

OBJECTIVE: To compare the arterial stiffness between the abdominal obese population without nonalcoholic fatty liver disease (NAFLD) (referred to as abdominal fat accumulation), the normal-weight population with NAFLD (ectopic liver fat accumulation), and the population with both abdominal obesity and NAFLD (accumulation of both abdominal and ectopic liver fat). METHODS: A total of 111,552 Chinese adults who underwent the health checkups from January 2012 to December 2012 were screened. Clinical and biochemical parameters were measured in each subject. NAFLD was diagnosed by ultrasonography. Arterial stiffness was evaluated by cardio-ankle vascular index (CAVI). RESULTS: Normal-weight subjects with NAFLD had significantly higher CAVI than subjects with abdominal obesity with or without NAFLD (8.12 ± 1.16 vs. 7.93 ± 1.38, 7.96 ± 1.20; P<.01). When the presence of abdominal obesity, NAFLD, and both diseases (abdominal obesity and NAFLD) were included in regression analyses individually, CAVI was independently associated with abdominal obesity or NAFLD or both after adjusting for confounders. When the presence of abdominal obesity and NAFLD and both diseases were included simultaneously in regression analyses, the association between NAFLD and CAVI and the association between both diseases and CAVI remained significant, whereas the association between abdominal obesity and CAVI was no longer significant. The presence of NAFLD conferred a greater odds ratios of having an elevated CAVI than did the presence of abdominal obesity or even the presence of both diseases. CONCLUSION: Ectopic liver fat accumulation is associated with greater risk of arterial stiffness compared with abdominal fat accumulation or accumulation of both abdominal and ectopic liver fat.


Assuntos
Gordura Abdominal/metabolismo , Coristoma/fisiopatologia , Rigidez Vascular , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Hepatopatia Gordurosa não Alcoólica/fisiopatologia
20.
Middle East Afr J Ophthalmol ; 21(3): 244-50, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25100910

RESUMO

Choroidal osteomas are rare benign ossifying tumors that appear as irregular slightly elevated, yellow-white, juxtapapillary, choroidal mass with well-defined geographic borders, depigmentation of the overlying pigment epithelium; and with multiple small vascular networks on the tumor surface. Visual loss results from three mechanisms: Atrophy of the retinal pigment epithelium overlying a decalcified osteoma; serous retinal detachment over the osteoma from decompensated retinal pigment epithelium, and most commonly from choroidal neovascularization. Recent evidence points to the beneficial effects of intravitreal vascular endothelial growth factor antagonists in improving visual acuity in serous retinal detachment with or without choroidal neovascularization.


Assuntos
Coristoma , Neoplasias da Coroide , Osteoma , Calcinose/fisiopatologia , Coristoma/etiologia , Coristoma/patologia , Coristoma/fisiopatologia , Neoplasias da Coroide/etiologia , Neoplasias da Coroide/patologia , Neoplasias da Coroide/fisiopatologia , Humanos , Osteoma/etiologia , Osteoma/patologia , Osteoma/fisiopatologia
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