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Objective:To analyze and summarize the clinical and genetic features of Noonan syndrome (NS) caused by mutations in the leucine zipper-like transcription regulator 1 ( LZTR1) gene. Methods:The retrospective study analyzed a patient who was examined at the Center of Prenatal and Hereditary Disease Diagnosis, Department of Obstetrics and Gynecology, Nanfang Hospital, Southern Medical University in January 2021 because of fetal nuchal translucency thickening and a previous history of problematic pregnancies. Subsequently, the patient was diagnosed with Noonan syndrome (NS) through whole exome sequencing. Using keywords such as "Noonan syndrome," "Leucine zipper-like transcription regulator 1", and " LZTR1", clinical and genetic characteristics of NS derived from LZTR1 mutations were summarized by extracting relevant literature from China National Knowledge Infrastructure, Wanfang Database, Yiigle, PubMed and Web of Science, covering from January 2013 to October 2022. Descriptive analysis was applied to the data. Results:(1) Case report: WES and Sanger sequencing showed the existence of the biallelic variants of LZTR1 gene c.842C>T and c.2248G>A in the fetus (Ⅱ-3) and the proband (Ⅱ-2) that inherited from the father and the mother, respectively. Based on the typical special facial appearance and short stature in the proband indicative of NS, the fetus and the proband were diagnosed with autosomal recessive inheritance (AR) NS. The pregnant woman terminated her pregnancy at 22 weeks due to severe edema of the fetus. At the age of three, the proband exhibited typical craniofacial features and short stature characteristics of NS when presented to our hospital. The proband received regular follow-ups in the pediatrics department of other hospitals, where recombinant human growth hormone was used to improve his height. He attended kindergarten at age four and can communicate and play with other children normally. (2) Literature review: 95 cases of NS associated with LZTR1 mutations have been retrieved and included. When including the fetus and the proband of this case, the total reached 97 cases, involving 79 different mutation sites. Forty-three cases (44.3%) were AR, and 54 (55.7%) were autosomal dominant inheritance (AD). Missense mutation was the most prevalent type of mutation, whereas nonsense mutation and frameshift mutation were more common in biallelic variants. Across all cases, the clinical manifestations encompassed multiple systems, primarily characterized by craniofacial dysmorphia, skeletal deformities, heart defects, and short stature. Developmental delay, learning disabilities, and mental retardation of varying degrees may accompany these symptoms. Eighteen cases described antenatal phenotypes, with 16 of them reporting biallelic AR variants. Ultrasound findings of 18 prenatal cases revealed 11 cases of fetal NT thickening, seven cases of cystic hygroma, four cases of fetal pericardium or pleural effusion, two cases of severe fetal edema, and 11 cases of cardiovascular defects. Conclusions:NS induced by LZTR1 mutations is an autosomal dominant or recessive inherited genetic syndrome with a broad spectrum of clinical phenotypes. The severity of the disease varies among children with the same genotype. NS should be considered when prenatal ultrasound indicates nonspecific manifestations, such as fetal NT thickening, cervical lymphatic hydrops, polyhydramnios, fetal edema, and congenital heart defects. Prenatal identification is crucial for evaluating the prognosis of children and assisting families in making clinical decisions.
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Objective@#To investigate the value of 18F-fluorodeoxyglucose (FDG) PET/CT imaging and cardiac MRI (CMR) in the diagnosis of radiation-induced heart disease (RIHD) in Beagle models.@*Methods@#Twenty-four normal male Beagle dogs (1-year old) were randomly divided into control group and irradiated groups (3-month, 6-month and 12-month after radiation). The left anterior myocardium of Beagle dogs in irradiated groups was irradiated locally with a single dose of 20 Gy X-ray. Cardiac 18F-FDG PET/CT imaging and CMR were performed on all dogs, and the mean standardized uptake value (SUVmean) and the area of lesions with increased 18F-FDG uptake were obtained. After imaging examinations were finished, dogs were sacrificed and their hearts were taken out to perform Masson staining and electron microcopy. One-way analysis of variance was used for data analysis.@*Results@#There was basically no uptake in myocardium in control group. The myocardium showed increased uptake of 18F-FDG in the irradiated groups. The SUVmean of myocardium in 3-month, 6-month and 12-month after radiation groups and control group were 5.90±1.31, 4.66±2.21, 3.21±0.82 and 1.13±0.21, respectively (F=11.81, P<0.05). The area with increased 18F-FDG uptake in the irradiated groups decreased progressively with the prolongation of irradiation time (F=195.74, P<0.01). The reduction in myocardial perfusion and myocardial fibrosis were observed by CMR early at 6-month after irradiation. Compared with the control group, the 6-month and 12-month after radiation groups had increased end diastolic volume (EDV) and end systolic volume (ESV; F=15.479 and 16.908, both P<0.01), and decreased left ventricular ejection fraction (LVEF; F=63.715, P<0.01). The progressive aggravation of myocardial fibrosis was displayed in irradiated groups by Masson staining. The mitochondria degeneration, swelling and the count reduction in irradiated groups were observed by electron microscopy.@*Conclusions@#The increased 18F-FDG uptake in the irradiated myocardium may predict the risk of RIHD. 18F-FDG PET/CT imaging can detect RIHD earlier than CMR.
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Objective To investigate the value of 18F-fluorodeoxyglucose (FDG) PET/CT imaging and cardiac MRI (CMR) in the diagnosis of radiation-induced heart disease (RIHD) in Beagle models.Methods Twenty-four normal male Beagle dogs (1-year old) were randomly divided into control group and irradiated groups (3-month,6-month and 12-month after radiation).The left anterior myocardium of Beagle dogs in irradiated groups was irradiated locally with a single dose of 20 Gy X-ray.Cardiac 18F-FDG PET/CT imaging and CMR were performed on all dogs,and the mean standardized uptake value (SUVmax) and the area of lesions with increased 18F-FDG uptake were obtained.After imaging examinations were finished,dogs were sacrificed and their hearts were taken out to perform Masson staining and electron microcopy.Oneway analysis of variance was used for data analysis.Results There was basically no uptake in myocardium in control group.The myocardium showed increased uptake of 18F-FDG in the irradiated groups.The SUV of myocardium in 3-month,6-month and 12-month after radiation groups and control group were 5.90± 1.31,4.66±2.21,3.21±0.82 and 1.13±0.21,respectively (F=11.81,P＜0.05).The area with increased 18F-FDG uptake in the irradiated groups decreased progressively with the prolongation of irradiation time (F =195.74,P＜0.01).The reduction in myocardial perfusion and myocardial fibrosis were observed by CMR early at 6-month after irradiation.Compared with the control group,the 6-month and 12-month after radiation groups had increased end diastolic volume (EDV) and end systolic volume (ESV;F =15.479 and 16.908,both P＜0.01),and decreased left ventricular ejection fraction (LVEF;F=63.715,P＜0.01).The progressive aggravation of myocardial fibrosis was displayed in irradiated groups by Masson staining.The mitochondria degeneration,swelling and the count reduction in irradiated groups were observed by electron microscopy.Conclusions The increased 18F-FDG uptake in the irradiated myocardium may predict the risk of RIHD.18F-FDG PET/CT imaging can detect RIHD earlier than CMR.
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Objective To investigate the relationship between telomere DNA length of peripheral leukocytes and tumor type and prognosis in non-small cell lung cancer ( NSCLC) . Methods From June 2016 to April 2017,the thoracic surgery department of Baoding First Central Hospital,Hebei Province was included in the study. The patients with lung cancer and TNM stage were confirmed by pathological examination,excluding the patients with unknown general records and lost visits. Finally,55 patients were included,including 35 patients in adenocarcinoma group and 20 patients in other non-small cell lung cancer group. The telomere DNA length of peripheral blood leukocytes in patients with non-small cell lung cancer was detected by real-time fluorescence quantitative PCR, and the survival of patients was followed up to analyze the relationship between telomere DNA length of peripheral blood leukocytes and tumor pathological type and prognosis. Results The telomere DNA length (T／s) (1. 98±0. 69) of adenocarcinoma group was larger than that of other non-small cell lung cancer group (1. 43±0. 67),P＝0. 007; there was no significant difference in the telomere DNA length of peripheral blood leukocytes in patients with different TNM stages. According to the length of telomere DNA in peripheral blood, the average survival time of short telomere group was 17. 149 months(95%CI＝14. 696～19. 602),which was significantly lower than that of long telomere group (30. 857 months,95%CI＝28. 515～33. 199),the difference was statistically significant (P＝0. 001); Cox proportional risk regression analysis showed that: telomere DNA length (P＝0. 041), tumor stage (P＝0. 007) were independent risk factors for prognosis of patients. Conclusion Telomere DNA length of peripheral blood leukocytes in patients with lung adenocarcinoma is longer than that of other non-small cell lung cancer, and TNM stage and telomere DNA length of peripheral blood leukocytes are independent risk factors for prognosis of non-small cell lung cancer.
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Objective To study the relationship between MRI features and pathological characteristics of the renal clear cell carcinoma,and to conduct a comparative analysis.Methods 23 patients renal clear cell carcinoma who were proved by postoperative pathology were retrospectively analyzed. The preoperative MRI findings and the postoperative pathological characteristics were compared. Results MRI plain scan showed uniform signal was seen in 2 cases, and mixed signal was found in 21 cases with cystic and necrosis. Blood was seen in 11 cases and false envelope was present in 12 cases. Dynamic enhanced scanning revealed that solid part was enhanced obviously, it was lower than the renal cortex but higher than the renal medulla in cortical phase and continued to be enhanced in medullary phase and delay phase.Postoperative pathological characteristics showed that tumor profiles were yellow-white and cystic and necrotic structures were present within tumors, blood was found in 17 cases. Endoscopic tumor cells were present in solid nests or acinar structure, and mesenchyma was rich in thin-walled vessels involved in reticular interval.14 cases were found to have false envelope.Conclusion Renal clear carcinoma MRI imaging manifestion is related to organixational srructure. MR plain scan combined with dynamic enhanced scan has very high value in the diangnodis of renal cell carcoinoma.