Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 50
Filtrar
Mais filtros

Base de dados
País/Região como assunto
Tipo de documento
País de afiliação
Intervalo de ano de publicação
1.
Acta Radiol ; 58(1): 107-113, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26966145

RESUMO

BACKGROUND: Intracranial lesions exhibit clear contrast enhancement in T1-weighted imaging, but the mechanism whereby contrast-enhanced susceptibility-weighted imaging (CE-SWI) generates signals remains unclear. Contrast enhancement patterns cannot be reliably predicted. PURPOSE: To explore the mechanism of CE-SWI contrast enhancement. MATERIAL AND METHODS: Fifty-five patients were retrospectively enrolled. All of the imaging employed a clinical 3T magnetic resonance imaging (MRI) system fitted with a 32-channel head coil. Minimum-intensity projection reformatted images were evaluated. Intracranial lesions and brain parenchymal intensities were explored using SWI and CE-SWI. signal intensity rates were calculated by dividing the lesional intensity by the white matter intensity, after which the SWI and CE-SWI signal intensity rate were compared. Two observers independently performed intralesional susceptibility signal analysis. RESULTS: After contrast medium administration, malignant and extra-axial tumors exhibited obvious contrast enhancement on CE-SWI (P < 0.001 and P = 0.013, respectively). The signal intensity of white matter was significantly reduced. The signal intensity rates rose significantly in the benign, malignant, and extra-axial groups (P < 0.001). Between-radiologist agreement in terms of intralesional susceptibility signal assessment was strong (kappa = 0.8, P < 0.001). CONCLUSION: Contrast media can either reduce or increase SWI signal intensities. The dual contrast feature of CE-SWI can be useful when exploring intracranial disorders.


Assuntos
Neoplasias Encefálicas/diagnóstico por imagem , Aumento da Imagem/métodos , Interpretação de Imagem Assistida por Computador/métodos , Angiografia por Ressonância Magnética/métodos , Meglumina , Neovascularização Patológica/diagnóstico por imagem , Compostos Organometálicos , Adolescente , Adulto , Idoso , Neoplasias Encefálicas/complicações , Criança , Pré-Escolar , Meios de Contraste , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neovascularização Patológica/complicações , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Adulto Jovem
2.
Pol J Radiol ; 82: 179-187, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28439322

RESUMO

BACKGROUND: Susceptibility weighted imaging (SWI) is a velocity compensated, high-resolution three-dimensional (3D) spoiled gradient-echo sequence that uses magnitude and filtered-phase data. SWI seems to be a valuable tool for non-invasive evaluation of central nervous system gliomas. Relative cerebral blood volume (rCBV) ratio is one of the best noninvasive methods for glioma grading. Degree of intratumoral susceptibility signal (ITSS) on SWI correlates with rCBV ratio and histopathological grade. This study investigated the effectiveness of ITSS grading and rCBV ratio in preoperative assessment. MATERIAL/METHODS: Thirty-one patients (17 males and 14 females) with histopathogical diagnosis of glial tumor undergoing routine cranial MRI, SWI, and perfusion MRI examinations between October 2011 and July 2013 were retrospectively enrolled. All examinations were performed using 3T apparatus with 32-channel head coil. We used ITSS number for SWI grading. Correlations between SWI grade, rCBV ratio, and pathological grading were evaluated. ROC analysis was performed to determine the optimal rCBV ratio to distinguish between high-grade and low-grade glial tumors. RESULTS: There was a strong positive correlation between both pathological and SWI grading. We determined the optimal rCBV ratio to discriminate between high-grade and low-grade tumors to be 2.21. CONSLUSIONS: In conclusion, perfusion MRI and SWI using 3T MR and 32-channel head coil may provide useful information for preoperative glial tumor grading. SWI can be used as an accessory to perfusion MR technique in preoperative tumor grading.

3.
Am J Emerg Med ; 33(2): 314.e1-2, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25195045

RESUMO

Trauma patients consist vast majority of the patients who admit to emergency department, and most of them have a head trauma. A 58-year-old patient was taken to emergency department with head trauma, and a hyperdense lesion neighboring to third ventricle was detected. A diagnosis of colloid cyst was made in the patient who was being followed up for hemorrhage. In patients with head trauma, colloid cyst may easly be confused with intracranial hemorrhage due to hyperdensity. The aim of this report is to emphasize the importance of clinical thinking in the differential diagnosis of hyperdense lesion on computed tomography imaging of a patient with head injury.


Assuntos
Cistos Coloides/diagnóstico , Hemorragia Intracraniana Traumática/diagnóstico , Encéfalo/diagnóstico por imagem , Cistos Coloides/diagnóstico por imagem , Diagnóstico Diferencial , Serviço Hospitalar de Emergência , Humanos , Hemorragia Intracraniana Traumática/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Neuroimagem , Tomografia Computadorizada por Raios X
4.
Am J Emerg Med ; 33(8): 1116.e5-6, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25935813

RESUMO

Morel-Lavallee syndrome is a posttraumatic soft tissue injury in which the subcutaneous tissue is broken off from the underlying fascia, creating a cavity filled with hematoma and liquefied fat. It commonly occurs over the greater trochanter and, rarely, may also occur in the lumbal region.Morel-Lavallee syndrome can be often diagnosed late because of ommitted diagnosis in emergency services. The emergency physician and radiologist must keep this syndrome in mind because early diagnosis can enable conservative management, whereas delayed diagnosis may lead to surgical exploration. In this article,we present the clinical and radiologic features of 2 cases of lumbar Morel-Lavallee syndrome detected after trauma.


Assuntos
Acidentes por Quedas , Acidentes de Trânsito , Hematoma/diagnóstico , Lesões dos Tecidos Moles/diagnóstico , Adolescente , Humanos , Região Lombossacral , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade
5.
Platelets ; 25(4): 229-33, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-23841663

RESUMO

This study was performed to investigate the correlation between mean platelet volume, as an indicator of thrombocyte function, and placental grade classified by the Grannum scoring system. Placental sonographic images were graded according to the Grannum scoring system, and synchronous haemogram samples were taken from patients who attended foetal assessments during the second and third trimesters. A total of 75 patients were in their second trimester, and 40 patients were in their third trimester. The relation between week of pregnancy and placental Grannum score was significant (p<0.001); i.e. placental Grannum score increased with gestational age. The association between Grannum score and mean platelet volume was analysed, including trimester and mean platelet volume, by linear regression analysis. The results indicated a distinct trimester-independent correlation between mean platelet volume and Grannum score (partial correlation coefficient=0.455; p<0.001). However, no correlation was observed between Grannum score and gravity (r=0.87; p=0.356), parity (r=0.97; p=0.302) or abortion (r=0.011; p=0.91). The correlation between mean platelet volume and placental calcification was investigated, and mean platelet volume in patients with a calcified placenta was 8.23 ± 1.14, whereas mean platelet volume in placentas with no calcification was 7.92 ± 1.18 (p=0.233). Mean platelet volume was an independent indicator of Grannum score, which is an indicator of placental grade, in women in the second and third trimester of pregnancy. Assessing mean platelet volume during routine screening may identify functional placental disorders.


Assuntos
Volume Plaquetário Médio , Placenta/diagnóstico por imagem , Adolescente , Adulto , Feminino , Humanos , Contagem de Plaquetas , Gravidez , Ultrassonografia , Adulto Jovem
6.
Am J Emerg Med ; 32(2): 194.e1-2, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24286668

RESUMO

Air embolism is known to be a complicating factor in several clinical settings, including thoracic, cardiovascular, and neurosurgical operations; central line placement; and penetrating thoracic and cranial trauma. There are, however, only few case descriptions for cardiopulmonary resuscitation massive cerebral air embolism, and the frequency of this supposedly rare complication is unknown. Computed tomography is useful for showing cerebral air embolism. In this report, we present a 16-year-old adolescent girl with cerebrovascular air embolism on computed tomographic examination after a posttraumatic cardiopulmonary resuscitation and discuss the reasonable mechanisms of cerebrovascular air embolism.


Assuntos
Reanimação Cardiopulmonar/efeitos adversos , Traumatismos Craniocerebrais/terapia , Embolia Aérea/etiologia , Embolia Intracraniana/etiologia , Adolescente , Traumatismos Craniocerebrais/complicações , Feminino , Humanos , Neuroimagem , Tomografia Computadorizada por Raios X
7.
Am J Emerg Med ; 32(5): 486.e1-3, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24370067

RESUMO

Clivus fracture (CF), which is usually reported to accompany with head trauma, has high mortality rates. Early diagnosis of CF is rare because of high mortality rates and inadequate urgent radiologic techniques; however, diagnosis rates are increasing with computed tomography images obtained in high resolution and thin sections. In this article, radiologic and clinical features of 2 patients who were detected to have longitudinal CF after head trauma are presented and accompanying pathologies and its importance for prognosis are discussed under the light of literature data composed of a small number of reports.


Assuntos
Traumatismos Craniocerebrais/complicações , Traumatismos Craniocerebrais/diagnóstico por imagem , Fraturas Cranianas/diagnóstico por imagem , Fraturas Cranianas/etiologia , Acidentes por Quedas , Acidentes de Trânsito , Adolescente , Evolução Fatal , Escala de Coma de Glasgow , Humanos , Masculino , Tomografia Computadorizada por Raios X , Adulto Jovem
8.
Am J Emerg Med ; 32(3): 291.e1-3, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24238481

RESUMO

Spontaneous spinal epidural hematoma is a very rare clinical emergency. A permanent neurological deficit or even death may result if diagnosis and treatment are delayed. Many cases can be diagnosed upon detailed neurological examination and magnetic resonance (MR) imaging. Usually, surgery is required, but rarely, the condition may improve spontaneously. A 46-year-old male patient was admitted to our emergency department because of rapidly evolving severe paraplegia following development of sudden-onset neck pain. Spinal MR imaging detected an epidural hematoma compressing the spinal cord at the C5­T1 level. Clinical and radiological follow-up showed that the patient recovered spontaneously in 48 hours without any need for surgical treatment.


Assuntos
Hematoma Epidural Espinal/diagnóstico , Remissão Espontânea , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade
10.
Clin Invest Med ; 32(3): E199-205, 2009 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-19480735

RESUMO

PURPOSE: Propylthiouracil is one of the thionamides used in the treatment of Graves' disease. The drug has serious side effects and long-term treatment might be needed to achieve remission. We designed this study to evaluate the clinical and thyroid Doppler characteristics that might predict time to remission and treatment failure in propylthiouracil treated Graves' patients. METHODS: 26 patients, among 134 presenting to our university hospital outpatient clinic between Feb -July 2007 and with first time diagnosis of clinical thyroid dysfunction, were clinically and ultasonographically diagnosed with Graves' disease. Doppler parameters, serum thyrotropin, free thyroxine and free triiodothyronine were measured at the beginning of the study and thyroid studies were repeated every 4 weeks until remission. Propylthiouracil 300 mg/day was started for each patient at the time of diagnosis and doses were titrated according to repeat thyroid studies. Patients were treated and followed up for 18 months. RESULTS: Treatment failure was associated with smoking (P = 0.001) and male gender (P= 0.037). Stepwise multiple regression analysis revealed that age, free thyroxine and superior thyroid artery flow rate were predictors of time to remission (P= 0.001, 0.002 and 0.003, respectively). CONCLUSION: The time to remission in Graves patients treated with propylthiouracil can be predicted using age, serum free thyroxine and superior thyroid artery flow rate. This may help early consideration of alternative treatment for the patients requiring prolonged treatment for remission or for those who fail medical treatment. This would decrease unnecessary, long-term propylthiouracil exposure with its serious side effects.


Assuntos
Antitireóideos/uso terapêutico , Doença de Graves/tratamento farmacológico , Doença de Graves/patologia , Propiltiouracila/uso terapêutico , Antitireóideos/efeitos adversos , Feminino , Doença de Graves/metabolismo , Humanos , Masculino , Propiltiouracila/efeitos adversos , Fatores Sexuais , Fumar , Tiroxina/metabolismo , Falha de Tratamento
13.
Tohoku J Exp Med ; 215(1): 89-93, 2008 May.
Artigo em Inglês | MEDLINE | ID: mdl-18509239

RESUMO

Paralleling the rise in the incidence of obesity and diabetes worldwide, nonalcoholic fatty liver disease (NAFLD) is being increasingly recognized as one of the major causes of chronic liver disease. Doppler sonography is used as a diagnostic method in the non-invasive assessment of the hemodynamics of hepatic vascular flow in liver diseases. We investigated the effects of fatty infiltration in the liver on the Doppler flow hemodynamics of the portal vein. Doppler sonography of the liver and portal vein was performed in 60 subjects with NAFLD and 20 healthy volunteers (control). The patients were grouped into mild (grade 1), moderate (grade 2), and severe (grade 3) according to sonographic appearance of hepatosteatosis (n = 20 for each group). The vein pulsatility index (VPI), mean flow velocity (MFV), peak maximum velocity (V(max)), and peak minimum velocity (V(min)) of the portal vein were significantly lower in patients with NAFLD than those of the controls (p < 0.001). The VPI was 0.20 in the patients and 0.31 in the control. The MFV was 12.3 cm/sec in the patients and 16.5 cm/sec in the control group. The portal vein flow was found to be decreased as the grade of fatty infiltration increased for VPI (r = -0.946, p < 0.001), MFV (r = -0.951, p < 0.001). The alteration in Doppler waveform pattern of portal vein with fatty liver population suggests reduced vascular compliance in the liver.


Assuntos
Fígado Gorduroso/fisiopatologia , Hemodinâmica/fisiologia , Veia Porta/fisiopatologia , Adolescente , Adulto , Idoso , Velocidade do Fluxo Sanguíneo/fisiologia , Fígado Gorduroso/diagnóstico por imagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Veia Porta/diagnóstico por imagem , Ultrassonografia Doppler/estatística & dados numéricos
14.
Eur J Radiol ; 63(2): 286-9, 2007 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-17374471

RESUMO

OBJECTIVE: To determine the relationship between thyroid blood flow and anthropometric measurements, pubertal stage, and thyroid and gonadotropic hormones. MATERIALS AND METHODS: We examined 123 healthy school-aged children prospectively (69 boys (56.1%) and 54 girls (43.9%), 7-17 years old). Their sex, age, body weight, height, body mass index (BMI), and pubertal stage were determined. Serum thyrotropin, free thyroxine, luteinizing hormone, and follicle stimulating hormone were measured in both genders, along with testosterone in boys and estradiol in girls. The peak systolic velocity (PSV), resistance index (RI), and pulsatility index (PI) of the superior thyroid artery were determined. The correlations between the Doppler parameters and these factors were investigated. RESULTS: There were no differences in age, weight, height, BMI, thyroid volume, PSV, RI, or PI between boys and girls (P>0.05). The PSV and PI showed strong correlations with age, height, weight, puberty stage, thyroid volume, and BMI. The RI showed a strong inverse correlation with age, height, weight, puberty stage, and thyroid volume and a weak inverse correlation with the BMI. CONCLUSION: Determination of the thyroid arterial flow in normal healthy children is important during a Doppler ultrasound (US) examination. Doppler US parameters and their percentiles should be described in healthy children from different age groups, and these percentiles will aid in interpreting Doppler US in children.


Assuntos
Velocidade do Fluxo Sanguíneo/fisiologia , Reologia/métodos , Glândula Tireoide/diagnóstico por imagem , Glândula Tireoide/fisiologia , Ultrassonografia Doppler/métodos , Adolescente , Criança , Feminino , Humanos , Masculino , Valores de Referência , Glândula Tireoide/irrigação sanguínea
15.
Wien Klin Wochenschr ; 118(17-18): 549-53, 2006 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-17009068

RESUMO

OBJECTIVES: We hypothesized that in patients with chronic obstructive pulmonary disease (COPD) some extrapulmonary effects such as increase in intra-abdominal and intra-thoracic pressures, presence of cor pulmonale and pulmonary artery hypertension could cause venous insufficiency (VI) in the lower limbs. Our aim in this study was to assess the prevalence of VI in patients with COPD in comparison with healthy controls. METHODS: Thirty-nine male patients with COPD and 36 healthy male controls were evaluated for VI. All the participants were in the same age group and their smoking intensities were similar. Patients with COPD were classified as having mild, moderate, severe or very severe disease according to criteria of the Global Initiative for Chronic Obstructive Lung Disease. All the patients and control group were examined for unilateral or bilateral VI of the common femoral vein, superficial femoral vein, deep femoral vein and popliteal vein using color duplex ultrasonography. RESULTS: The prevalence of VI of the lower extremity in patients with COPD (69.2%) was significantly higher than in the healthy control group (41.7%). The prevalence increased as the COPD severity increased and VI was detected in all the patients with very severe COPD [mild COPD, 50.0% (2/4); moderate, 58.8% (10/17); severe, 75.0% (9/12); very severe, 100% (6/6)]. CONCLUSION: VI of the lower extremity appears more frequent in patients with COPD. We suggest ruling out COPD in patients with otherwise unexplained "primary" VI.


Assuntos
Doença Pulmonar Obstrutiva Crônica/complicações , Insuficiência Venosa/diagnóstico por imagem , Insuficiência Venosa/epidemiologia , Idoso , Idoso de 80 Anos ou mais , Distribuição de Qui-Quadrado , Interpretação Estatística de Dados , Veia Femoral/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Veia Poplítea/diagnóstico por imagem , Prevalência , Estudos Prospectivos , Doença Pulmonar Obstrutiva Crônica/classificação , Doença Pulmonar Obstrutiva Crônica/diagnóstico , Ultrassonografia Doppler em Cores
16.
Diagn Interv Radiol ; 22(3): 263-8, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26912107

RESUMO

PURPOSE: We aimed to assess the effectiveness, benefits, and reliability of percutaneous vertebroplasty (PV) in patients with vertebral involvement of multiple myeloma. METHODS: PV procedures performed on 166 vertebrae of 41 patients with multiple myeloma were retrospectively evaluated. Most of our patients were using level 3 (moderate to severe pain) analgesics. Magnetic resonance imaging was performed before the procedure to assess vertebral involvement of multiple myeloma. The following variables were evaluated: affected vertebral levels, loss of vertebral body height, polymethylmethacrylate (PMMA) cement amount applied to the vertebral body during PV, PMMA cement leakages, and pain before and after PV as assessed by a visual analogue scale (VAS). RESULTS: Median VAS scores of patients decreased from 9 one day before PV, to 6 one day after the procedure, to 3 one week after the procedure, and eventually to 1 three months after the procedure (P < 0.001). During the PV procedure, cement leakage was observed at 68 vertebral levels (41%). The median value of PMMA applied to the vertebral body was 6 mL. CONCLUSION: Being a minimally invasive and easily performed procedure with low complication rates, PV should be preferred for serious back pain of multiple myeloma patients.


Assuntos
Dor nas Costas/cirurgia , Mieloma Múltiplo/fisiopatologia , Mieloma Múltiplo/cirurgia , Vertebroplastia/métodos , Idoso , Dor nas Costas/etiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Estudos Retrospectivos , Resultado do Tratamento
17.
Iran J Radiol ; 12(3): e14979, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-26557268

RESUMO

Twin reversed arterial perfusion (TRAP) sequence is a syndrome with poor prognosis, seen only in monochorionic monozygotic twin pregnancies. The incidence is one in 35.000 births and one in 100 monozygotic twin pregnancies. It is characterized with a recipient fetus exhibiting lethal anomalies including acardia and a pump fetus. Mortality is usually due to heart failure or premature labor caused by polyhydramnios of pump fetus. Herein, we report a case of TRAP sequence that emphasizes the importance of gray-scale and color Doppler imaging in the diagnosis and management of TRAP sequence.

18.
World J Emerg Med ; 6(3): 207-11, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26401182

RESUMO

BACKGROUND: Weather conditions are thought to increase the risk of stroke occurrence. But their mechanism has not yet been clarified. We investigated possible relationships between ischemic stroke and weather conditions including atmospheric pressure, temperature, relative humidity, and wind speed. METHODS: One hundred and twenty-eight patients with ischemic stroke who had been admitted to our hospital between January 1 and December 31, 2010 were enrolled in this study. We investigated the relationship between daily cases and weather conditions the same day or 1, 2, and 3 days before stroke. RESULTS: A negative correlation was found between maximum wind speed and daily cases 3 days before stroke. As the relationship between daily cases and changes of weather conditions in consecutive days was evaluated, a negative correlation was found between daily cases and change of atmospheric pressure in the last 24 hours. CONCLUSIONS: The maximum wind speed 3 days before stroke and change of atmospheric pressure in the last 24 hours were found to increase the cases of ischemic stroke. We recommend that individuals at risk of ischemic stroke should pay more attention to preventive measures, especially on days with low maximum wind speed, on subsequent 3 days, and on days with low atmospheric pressure in the last 24 hours.

19.
Semin Ophthalmol ; 30(5-6): 360-3, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-24460484

RESUMO

PURPOSE: To analyze the hemodynamic features of orbital blood flow velocities using Doppler ultrasonography in ankylosing spondiylitis (AS) patients, as well as to compare these results with those of healthy controls. METHODS: 33 AS patients and 32 healthy controls were consecutively included in the study groups. The same radiologist performed ocular blood flow measurements. Peak systolic velocity (PSV), end diastolic velocity (EDV), and resistive index (RI) were measured in the central retinal artery (CRA), posterior ciliary arteries (PCAs), and ophthalmic artery (OA). Resistive index was used to assess arterial resistance; it was automatically calculated as RI [(PSV-EDV)/PSV]. RESULTS: There were no significant differences in the PSV, EDV, and RI of the OA, CRA, and PCAs between AS patients and controls. CONCLUSION: This result suggests no possible contributory role of vascular structures in formation of uveitis in AS. We believe that our preliminary results need to be complemented with further studies, particularly including AS patients with uveitis and rheumatic diseases with other ocular involvement.


Assuntos
Artérias Ciliares/fisiologia , Artéria Oftálmica/fisiologia , Artéria Retiniana/fisiologia , Espondilite Anquilosante/fisiopatologia , Ultrassonografia Doppler em Cores , Adolescente , Adulto , Velocidade do Fluxo Sanguíneo , Pressão Sanguínea/fisiologia , Feminino , Voluntários Saudáveis , Humanos , Masculino , Pessoa de Meia-Idade , Uveíte/fisiopatologia , Adulto Jovem
20.
J Clin Endocrinol Metab ; 100(1): E140-7, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25322266

RESUMO

CONTEXT: Pituitary stalk interruption syndrome (PSIS) is a rare, congenital anomaly of the pituitary gland characterized by pituitary gland insufficiency, thin or discontinuous pituitary stalk, anterior pituitary hypoplasia, and ectopic positioning of the posterior pituitary gland (neurohypophysis). The clinical presentation of patients with PSIS varies from isolated growth hormone (GH) deficiency to combined pituitary insufficiency and accompanying extrapituitary findings. Mutations in HESX1, LHX4, OTX2, SOX3, and PROKR2 have been associated with PSIS in less than 5% of cases; thus, the underlying genetic etiology for the vast majority of cases remains to be determined. OBJECTIVE: We applied whole-exome sequencing (WES) to a consanguineous family with two affected siblings who have pituitary gland insufficiency and radiographic findings of hypoplastic (thin) pituitary gland, empty sella, ectopic neurohypophysis, and interrupted pitiutary stalk-characteristic clinical diagnostic findings of PSIS. DESIGN AND PARTICIPANTS: WES was applied to two affected and one unaffected siblings. RESULTS: WES of two affected and one unaffected sibling revealed a unique homozygous missense mutation in GPR161, which encodes the orphan G protein-coupled receptor 161, a protein responsible for transducing extracellular signals across the plasma membrane into the cell. CONCLUSION: Mutations of GPR161 may be implicated as a potential novel cause of PSIS.


Assuntos
Hipopituitarismo/genética , Hipófise/anormalidades , Receptores Acoplados a Proteínas G/genética , Adolescente , Pré-Escolar , Exoma , Feminino , Estudo de Associação Genômica Ampla , Humanos , Mutação
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA