Hypoplasia

发育不良
  • 文章类型: Case Reports
    颈内动脉发育不全是一种罕见的血管异常,由于脑血流改变,可导致各种神经系统症状。我们介绍了一个36岁女性的案例,她向我们展示了健忘和右侧弱点。通过影像学检查,她最终被诊断为双侧颈内动脉发育不全。此病例强调了在出现神经系统症状的患者中考虑血管异常的重要性,以及全面诊断评估对适当治疗的重要性。
    Internal carotid artery hypoplasia is a rare vascular anomaly that can lead to various neurological symptoms due to altered cerebral blood flow. We present a case of a 36 years old female who presented to us with forgetfulness and right sided weakness. She was ultimately diagnosed with bilateral internal carotid artery hypoplasia through imaging studies. This case highlights the importance of considering vascular anomalies in patients presenting with neurological symptoms and the significance of comprehensive diagnostic evaluation for appropriate management.
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  • 文章类型: Journal Article
    左心发育不良综合征(HLHS)是一种以左心室发育不全为特征的严重先天性心血管畸形,主动脉,和心脏左侧的其他结构。病理定义包括主动脉瓣和二尖瓣的闭锁或狭窄。尽管HLHS的临床和外科治疗取得了相当大的进展,死亡率和发病率仍然令人担忧。HLHS管理取得进展的一个障碍是对其原因了解不足。一些证据表明HLHS的遗传起源。首先,一些HLHS病例与细胞遗传学异常相关(例如,特纳综合征)。第二,对HLHS家族聚集和相关心血管畸形的研究已经确定HLHS是可遗传的。第三,已经确定了编码影响HLHS遗传的基因的基因组区域。一起来看,这些不同的研究为HLHS和相关心脏表型的遗传起源提供了强有力的证据.然而,使用简单的孟德尔继承模型,对“导致”HLHS的单一遗传变异的鉴定仍然难以捉摸,在大多数情况下,遗传原因仍然未知。这些结果表明HLHS遗传是复杂的而不是简单的。这一结论的含义是,研究人员必须超越可以发现单一致病变异的预期。利用复杂的模型来分析高通量遗传数据需要仔细考虑研究设计。
    Hypoplastic left heart syndrome (HLHS) is a severe congenital cardiovascular malformation characterized by hypoplasia of the left ventricle, aorta, and other structures on the left side of the heart. The pathologic definition includes atresia or stenosis of both the aortic and mitral valves. Despite considerable progress in clinical and surgical management of HLHS, mortality and morbidity remain concerns. One barrier to progress in HLHS management is poor understanding of its cause. Several lines of evidence point to genetic origins of HLHS. First, some HLHS cases have been associated with cytogenetic abnormalities (e.g., Turner syndrome). Second, studies of family clustering of HLHS and related cardiovascular malformations have determined HLHS is heritable. Third, genomic regions that encode genes influencing the inheritance of HLHS have been identified. Taken together, these diverse studies provide strong evidence for genetic origins of HLHS and related cardiac phenotypes. However, using simple Mendelian inheritance models, identification of single genetic variants that \"cause\" HLHS has remained elusive, and in most cases, the genetic cause remains unknown. These results suggest that HLHS inheritance is complex rather than simple. The implication of this conclusion is that researchers must move beyond the expectation that a single disease-causing variant can be found. Utilization of complex models to analyze high-throughput genetic data requires careful consideration of study design.
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  • 文章类型: Case Reports
    先前已经描述了窦管交界处(STJ)水平的左冠状动脉(LCA)口的孤立起源。左旋支(LCx)冠状动脉的先天性缺失也被证明与右冠状动脉的优势循环有关。无论是否存在冠状动脉阻塞。较早的文献将LCx冠状动脉缺失与优势右冠状动脉(SRCA)联系起来,而与发育不良的LCx冠状动脉(HLCx)无关。本病例报告详述了一名37岁瘦弱的病例,患有糖尿病和高血压危险因素的运动男性,因在街上骑自行车时失去意识而被送往我们医院的急诊室。当前的报告建立了STJ水平的LCA异常起源以及HLCx和SRCA状况与涉及左前降支近端的轻中度冠状动脉疾病的负担的组合关联。LCx,文献中首次出现右冠状动脉中段。Further,该病例报告主张,该病例具有恶性肿瘤的风险。因此,随着现代成像技术的进步,计算机断层扫描血管造影应该是成像模式的首选,而不是冠状动脉血管造影,以防止致命的结局.介入心脏病学家,心胸外科医生,和放射科医生应该有正确定义的冠状动脉解剖和相关病理学知识,因为这对于冠状动脉插管或任何冠状动脉介入治疗很重要。
    The isolated origin of the left coronary artery (LCA) ostium at the level of the sinotubular junction (STJ) has been described previously. Congenital absence of the left circumflex (LCx) coronary artery has also been documented with superdominant right coronary arterial circulation, either in the presence or absence of coronary artery obstruction. Earlier literature has linked the association of an absent LCx coronary artery with a superdominant right coronary artery (SRCA) but not with a hypoplastic LCx coronary artery (HLCx). The present case report details the case of a 37-year-old thin, athletic male with the risk factors of diabetes and hypertension who was admitted to the emergency unit of our hospital for losing consciousness while bicycling in the street. The current report establishes a combined association of LCA anomaly origin at STJ level along with HLCx and SRCA condition with the burden of mild to moderate coronary artery disease involving proximal left anterior descending artery, LCx, and mid right coronary artery in the literature for the first time. Further, the case report advocated that the presented case carries the risk of malignancy. Hence, with the advancement of modern imaging technologies, computed tomography angiography should be the first choice of imaging modality rather than coronary angiography to prevent fatal outcomes. Interventional cardiologists, cardiothoracic surgeons, and radiologists should have properly defined knowledge of coronary artery anatomy and associated pathology, as it is important for coronary cannulation or any coronary interventions.
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  • 文章类型: Journal Article
    背景:据报道,前交通和后交通(PCom)动脉瘤的威利斯环的几何形状和对称性与颅内动脉瘤之间的关系。相反,与大脑中动脉(MCA)动脉瘤的类似关联似乎较弱。方法:我们回顾了来自六个意大利中心的432例单侧MCA动脉瘤患者,分析威利斯圆的口径和对称性与破裂和未破裂表现的存在之间的关系。评估CT血管造影照片以评估Willis\'圆的几何特征和MCA动脉瘤侧,尺寸和破裂状态。结果:大脑前动脉(A1)第一段的发育不全约占患者的四分之一,而PCom发育不全几乎占40%。约有9%的胎儿在动脉瘤同侧有PCom。通过比较动脉瘤和健康侧,只有PCom发育不全在患侧出现明显升高。最后,未破裂动脉瘤患者的颈内动脉(ICA)口径和MCA(M1)第一段口径明显更大,PCom发育不全与同侧MCA动脉瘤的发生率及其破裂风险有关。结论:尽管根据这些发现,Willis环的不对称性被证明是MCA动脉瘤形成和破裂的危险因素,与同侧或对侧发育不全无关的关联仍然是难以解释血流动力学的数据,从而引起了人们的担忧,即这种联系可能比因果关系更随意。
    Background: A relationship between the geometry and symmetry of Willis\' circle and intracranial aneurysms was reported for anterior communicating and posterior communicating (PCom) aneurysms. A similar association with the middle cerebral artery (MCA) aneurysms instead appeared weaker. Methods: We reviewed 432 patients from six Italian centers with unilateral MCA aneurysms, analyzing the relationship between the caliber and symmetry of Willis\' circle and the presence of ruptured and unruptured presentation. CT-angiograms were evaluated to assess Willis\' circle geometrical characteristics and the MCA aneurysm side, dimension and rupture status. Results: The hypoplasia of the first segment of the anterior cerebral artery (A1) was in approximately one-quarter of patients and PCom hypoplasia was in almost 40%. About 9% had a fetal PCom ipsilaterally to the aneurysm. By comparing the aneurysmal and healthy sides, only the PCom hypoplasia appeared significantly higher in the affected side. Finally, the caliber of the internal carotid artery (ICA) and the first segment of MCA (M1) caliber were significantly greater in patients with unruptured aneurysms, and PCom hypoplasia appeared related to the incidence of an ipsilateral MCA aneurysm and its risk of rupture. Conclusions: Although according to these findings asymmetries of Willis\' circle are shown to be a risk factor for MCA aneurysm formation and rupture, the indifferent association with ipsilateral or contralateral hypoplasia remains a datum of difficult hemodynamic interpretation, thereby raising the concern that this association may be more casual than causal.
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  • 文章类型: Journal Article
    被报告为维生素D缺乏(VDD)的患者正在增加,特别是在儿童和青少年中。这项研究旨在证明对VDD患儿的临床和牙科评估,提到牙科诊所。一名10岁的英国亚裔男孩被普通牙医转介到儿科专业牙科诊所进行牙科管理。病史描述患者被诊断为VDD,继发性甲状旁腺功能亢进和生长延迟。此外,他的母亲在怀孕期间有VDD。该患者是母乳喂养的,婴儿期有病。他在16个月大的时候服用了维生素D补充剂。他在局部麻醉下接受了多次牙科治疗,但合作有限。临床检查显示,该患者的牙釉质发育不全按时间顺序显示为特定牙齿上第三咬合带。一般牙菌斑引起的牙龈炎的卫生状况欠佳,恒牙和乳牙的龋齿,延缓了牙齿的萌出.预防措施包括适当的口腔卫生和饮食建议,氟化物清漆的应用和裂缝密封剂的放置。治疗包括前路直接复合修复,后路复合修复,不锈钢冠和提取物。彻底的病史对于了解牙齿缺陷的根本原因至关重要。早期牙科干预可以恢复患者的外观和功能,并防止进一步的牙齿损伤。
    Patients being reported for vitamin D deficiency (VDD) are increasing, particularly among the children and adolescents. This study aims to manifest the clinical and dental evaluations of a child with VDD, referred to the dental office. A 10-year-old British Asian boy was referred to the paediatric specialist dentistry clinic by the general dentist for dental management. The medical history depicted that the patient was diagnosed with VDD, secondary hyperparathyroidism and delayed growth. Moreover, his mother had the VDD during pregnancy. The patient was breast fed and had rickets in infancy. He was prescribed vitamin D supplements at the age of 16 months. He had received multiple dental treatments under local anaesthesia but with limited cooperation. Clinical examination revealed that the patient had chronological enamel hypoplasia shown as bands at the occlusal third on specific teeth. Suboptimal hygiene with general plaque induced gingivitis, dental caries in permanent and primary teeth, and delayed the teeth eruption. Preventions included appropriate oral hygiene and dietary advice, fluoride varnish application and fissure sealant placement. The treatments included anterior direct composite restoration, posterior composite restoration, stainless steel crowns and extractions. Thorough medical history is essential to understand the underlying causes of dental defects. Early dental intervention can restore the patient appearance and function and prevent further dental damage.
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  • 文章类型: Case Reports
    波兰综合征是一种偶然的先天性畸形,其特征是单侧胸壁发育不良和同侧上肢异常。波兰综合征和乳腺癌之间的关联已被报道,但波兰综合征和乳腺肿瘤之间没有明确的病因联系.我们报告了一例波兰综合征合并乳腺癌的病例,并分析了该病例中乳腺癌的临床特征及其对乳腺癌治疗选择的影响。
    2022年2月,我们收治了一名患有波兰综合征的47岁女性,涉及右肢合并右侧乳腺癌。入院后,患者接受了8个周期的新辅助治疗,并于2022年9月7日接受了改良根治术.右侧胸大肌和胸大肌缺失,胸廓畸形,术中观察到沿胸骨一侧至右腋下的粘合带。手术后,切口达到A级愈合,靶向治疗持续1年.术后随访8个月,患侧肢体功能恢复良好,无明显皮下积液,皮瓣坏死,上肢水肿,并观察其他并发症。
    波兰综合征患者的解剖变异对乳腺癌手术方法的选择有一定影响,但是否会影响患者的预后尚不清楚。阐明波兰综合征与乳腺癌的关系,我们将来需要更多病例进行病因研究。
    UNASSIGNED: Poland syndrome is an occasional congenital malformation characterized by unilateral chest wall dysplasia and ipsilateral upper limb abnormalities. An association between Poland syndrome and breast cancer has been reported, but no clear etiological link between Poland syndrome and breast tumors has been established. We report a case of Poland syndrome combined with breast cancer and analyzed the clinical features of breast cancer in this case and its influence on the choice of treatment for breast cancer.
    UNASSIGNED: In February 2022, we admitted a 47-year-old woman with Poland syndrome involving the right limb combined with right-sided breast cancer. After admission, the patient was given eight cycles of neoadjuvant therapy and underwent a modified radical mastectomy on September 7, 2022. Absence of right pectoralis major muscle and pectoralis minor muscle, thoracic deformity, and an adhesive band along the side of the sternum to the right axilla were observed during the operation. After surgery, the incision achieved grade-A healing, and the targeted therapy was continued for 1 year. The patient was followed up for 8 months after surgery, and the limb function of the affected side recovered well, and no obvious subcutaneous effusion, flap necrosis, upper limb edema, and other complications were observed.
    UNASSIGNED: The anatomic variation of patients with Poland syndrome has some influence on the selection of surgical methods for breast cancer, but whether it would affect the prognosis of patients is unknown. To clarify the relationship between Poland syndrome and breast cancer, we need more cases to conduct etiological studies in the future.
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  • 文章类型: Journal Article
    肺发育不良是一种罕见的先天性异常,具有不同的临床意义并表现出症状。它通常表现在童年。我们介绍了两例发育性肺异常亚型,并讨论了此类患者人群的临床表现和结果。
    结论:肺发育不全是一个具有挑战性的诊断,在胸部X线片上单侧混浊的患者应考虑。童年发育史对于延迟诊断至关重要,或误诊是常见的。可以通过计算机断层扫描进行明确的诊断。管理层在密切监测的情况下保持警惕,长期预后仍不清楚。
    Lung underdevelopment is a rare congenital anomaly with variable clinical significance and presenting symptoms. It usually manifests during childhood. We present two cases of developmental lung anomaly subtypes and discuss clinical presentation and outcomes in such patient populations.
    CONCLUSIONS: Pulmonary underdevelopment is a challenging diagnosis and should be considered in patients with unilateral opacification on chest radiograph.Childhood developmental history is critical for diagnosis as delayed, or misdiagnoses are common. Definitive diagnosis can be made by computed tomography scan.Management is watchful waiting with close monitoring, with long term prognosis remaining unclear.
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  • 文章类型: Journal Article
    背景:龋齿分析一直是最近对牙齿缺陷数据建模工作的主要重点。虽然龋齿的焦点在牙科研究中非常重要,发育缺陷的检查也可能在龋齿形成的早期阶段作出贡献,也有潜在的兴趣。本文提出了一套方法,解决了不同牙齿区域缺陷的不同组合的出现。在我们的建模中,我们评估了牙齿区域发育与缺陷类型之间的联系以及与缺陷病因预测因子之间的联系,这些因素可能在牙冠发育的不同时间产生影响。
    方法:我们在贝叶斯范式下开发了不同的分层模型公式,以评估主要中切牙(PMCI)牙齿发育和PMCI缺陷期间的暴露。我们在各种模拟场景下评估贝叶斯分层模型,以将其性能与模拟牙齿缺陷数据和来自激励应用程序的真实数据进行比较。
    结果:所提出的模型提供了关于识别个体缺损的病因学预测因子子集的推断,这些预测因子解释了牙齿区域之间的相关性,以及识别了缺陷联合效应的病因学预测因子子集的推断。此外,该模型提供了有关牙齿区域之间以及发育牙釉质缺陷与龋齿的联合作用之间的相关性的推断。模拟结果表明,在将模拟结果与实际应用结果进行比较时,所提出的模型在不同的模拟场景下识别与局部发育牙釉质缺陷和龋齿的结果相关的病因生物标志物时始终产生稳定的推断,这被认为是小的均方误差(MSE)。
    结论:我们在不同的模拟场景下评估了所提出的模型,以开发一种假设可处理区域和关节效应的灵活协方差结构的多变量牙齿缺陷和龋齿模型。所提出的模型为在相同协方差结构下在不同多变量联合模型中捕获包容性预测因子的方法提供了新的思路,并为嵌套分层模型提供了自然扩展。
    BACKGROUND: The analysis of dental caries has been a major focus of recent work on modeling dental defect data. While a dental caries focus is of major importance in dental research, the examination of developmental defects which could also contribute at an early stage of dental caries formation, is also of potential interest. This paper proposes a set of methods which address the appearance of different combinations of defects across different tooth regions. In our modeling we assess the linkages between tooth region development and both the type of defect and associations with etiological predictors of the defects which could be influential at different times during the tooth crown development.
    METHODS: We develop different hierarchical model formulations under the Bayesian paradigm to assess exposures during primary central incisor (PMCI) tooth development and PMCI defects. We evaluate the Bayesian hierarchical models under various simulation scenarios to compare their performance with both simulated dental defect data and real data from a motivating application.
    RESULTS: The proposed model provides inference on identifying a subset of etiological predictors of an individual defect accounting for the correlation between tooth regions and on identifying a subset of etiological predictors for the joint effect of defects. Furthermore, the model provides inference on the correlation between the regions of the teeth as well as between the joint effect of the developmental enamel defects and dental caries. Simulation results show that the proposed model consistently yields steady inferences in identifying etiological biomarkers associated with the outcome of localized developmental enamel defects and dental caries under varying simulation scenarios as deemed by small mean square error (MSE) when comparing the simulation results to real application results.
    CONCLUSIONS: We evaluate the proposed model under varying simulation scenarios to develop a model for multivariate dental defects and dental caries assuming a flexible covariance structure that can handle regional and joint effects. The proposed model shed new light on methods for capturing inclusive predictors in different multivariate joint models under the same covariance structure and provides a natural extension to a nested hierarchical model.
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  • 文章类型: Journal Article
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  • 文章类型: Case Reports
    根据文献,横窦发育不全不是正常变异,对脑血流有严重的潜在影响。由于左横窦和乙状窦的严重发育不全,我们提出了一种罕见的慢性头痛病例。一名12岁的女女孩因逐渐进行性严重头痛而入院,在大自然中跳动,在过去的4-5个月中局限于双颞叶和额叶区域。头痛与发烧无关,呕吐,畏光,或者视力问题。这个孩子没有反复流鼻涕的病史,难治性视力,耳朵放电,头部外伤,皮疹,或任何药物史。在检查中,孩子是有意识和有针对性的。生命体征正常。该孩子的神经系统正常,没有局灶性体征。其他系统检查正常。基于历史和考试,进行了鉴别诊断,像假性脑瘤,偏头痛,深静脉窦血栓形成,功能性和后窝肿瘤。孩子进行了正常的常规检查,如全血细胞计数,电解质,和D-二聚体。眼底镜检查正常。在核磁共振中,怀疑左横窦和窦窦的脑发育不全,并通过MRI静脉造影证实。因此,对于任何患有慢性头痛且没有局灶性体征和正常眼底镜检查的急诊患者,横窦和乙状窦发育不全应考虑一个偏倚。
    According to the literature, transverse sinus hypoplasia is not a normal variant and has a serious potential effect on cerebral blood flow. We are presenting a rare case of chronic headache due to severe hypoplasia of the left transverse and sigmoidal sinus. A 12-year-old female girl was admitted with a complaint of gradual progressive severe headache, throbbing in nature, confined to a bitemporal and frontal region in the last 4-5 months. Headache is not associated with fever, vomiting, photophobia, or vision problems. The child had no history of recurrent running nose, refractory vision, ear discharge, head trauma, exanthemata rash, or any drug history. On examination, the child was conscious and oriented. Vital signs are normal. The child was neurologically normal and had no focal signs. Other systemic examinations were normal. Based on History and examination, differential diagnosis was made, like Pseudo tumor cerebri, migraine, deep vein sinus thrombosis, and functional and Posterior fossa tumor. The child had normal routine investigations like complete blood count, electrolyte, and D-dimer. The fundoscopy was normal. In MRI, brain hypoplasia of the left transverse and sinusoidal sinus was suspected and confirmed by MRI venography. Thus, for any patient in an emergency with a chronic headache without focal signs and normal fundoscopy, one deferential should be considered for transverse and sigmoid sinus hypoplasia.
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