Hypoplasia

发育不良
  • 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.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 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.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 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.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 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.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 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.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    然而,值得注意的是,某些手部功能轻微受限的患者在童年时期可能经历了未确诊的拇指发育不全.这些人可能在没有寻求医疗干预的情况下成功地适应了他们的病情,并且可能表现出对不干预的偏好(如在这种情况下)。
    拇指发育不全是拇指的先天性发育不良,占先天性手部疾病的5%-15%。它在两种性别之间同样发生,并且可以影响两个拇指。该状况使用Blauth的分类进行分类,其中类型I是最温和的形式。我们报告说,一名23岁的叙利亚男性在使用钢笔或剃刀时对反对派运动施加了双边限制。临床检查和X射线成像显示双侧I型拇指发育不全,双侧脚趾发育不全。尽管有手术治疗选择,由于适应病情,患者选择不接受手术。I型拇指发育不良是一种先天性疾病,其特征是拇指发育不足。双侧拇指发育不全伴脚趾发育不全极为罕见。由于其与其他综合征表现的关联,应进行全面的系统评估,并讨论有关最佳功能结果和患者偏好的治疗方案。
    UNASSIGNED: However, it is noteworthy that certain patients with minor functional limitations in their hand may have experienced undiagnosed thumb hypoplasia during their childhood years. These individuals may have successfully adapted to their condition without seeking medical intervention and may express a preference for nonintervention (as in this case).
    UNASSIGNED: Thumb hypoplasia is a congenital underdevelopment of the thumb, accounting for 5%-15% of congenital hand disorders. It occurs equally among both genders and can affect both thumbs. The condition is categorized using Blauth\'s classification with Type I being the mildest form. We report a 23-year-old Syrian male presented with a bilateral restriction in opposition movement when using a pen or razor. Clinical examination and x-ray imaging revealed a bilateral Type I hypoplastic thumb with bilateral minimal hypoplasia of the toes. Despite the surgical treatment options available, the patient opted not to undergo surgery due to his adaptation to his condition. Hypoplastic thumb Type I is a congenital condition characterized by underdevelopment of the thumb. Bilateral thumb hypoplasia with toes hypoplasia is extremely rare. A full systemic evaluation should be done due to its associations with other syndromic manifestations and treatment options are discussed concerning the best functional outcomes and patient preferences.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    先天性肺发育不全(CPH)是一种罕见的肺部疾病,其特征是肺组织发育不完全。由于患者通常被误诊为肺不张,因此其诊断仍然是一个挑战。
    一名女性新生儿因出生后黄疸12小时入院。体格检查显示呼吸加快。左肺无呼吸音。胸膜提示左肺透明度下降。胸部CT示:左肺及左肺原发性支气管缺失。左纵隔之间的边界未清楚显示。三维CT示:左肺、左主支气管缺如。心脏超声检查证实先天性心脏病。她表现为肾脏异位。最后,她被诊断为CPH并发先天性心脏病和异位肾。
    在17个月的随访中,病人仍然存活,但她表现出通气功能受阻。
    UNASSIGNED: Congenital pulmonary hypoplasia (CPH) is a rare pulmonary disease featured by incomplete development of pulmonary tissues. Its diagnosis is still a challenge as patients are usually misdiagnosed as atelectasis.
    UNASSIGNED: A female neonate was admitted to our hospital due to post-birth jaundice for 12 hrs. Physical examination showed accelerated breathing. There was no respiratory sound in the left lung. Chest film indicated decline of lucency in the left lung. Chest CT scan indicated absence of left lung and primary bronchus of the left lung. The boundary between left mediastinum was not clearly displayed. Three-dimensional CT scan indicated absence of left lung and left principal bronchus. Cardiac ultrasonography confirmed congenital heart disease. She showed ectopic kidney. Finally, she was diagnosed with CPH concurrent with congenital heart disease and ectopic kidney.
    UNASSIGNED: On 17-month follow-up visit, the patient is still survived, but she presents with obstruction in ventilation function.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    偏头痛,一种广泛性和无行为能力的神经系统疾病,影响全世界的许多人,导致严重的头痛和损害他们的生活质量。遗传的相互作用,环境,和神经血管因素是偏头痛的病理生理学基础。本报告重点介绍了一名25岁女性反复发作的病例,严重的头痛,主要在右额叶和颞区。她被诊断出患有先兆偏头痛,由她的家族史支持的诊断。以前没有癫痫发作史的报道。全面的工作,包括神经成像,提示左颈内动脉发育不全伴代偿侧支循环。严重的偏头痛和左颈内动脉发育不全的并存强调了脑血管异常和神经症状之间复杂的相互关系。这种血管变异的罕见性强调了对偏头痛患者进行仔细的临床评估和考虑解剖学偏差的必要性。随着医学知识的进步,进一步的研究对于解开血管异常和神经系统疾病的连接机制至关重要,最终导致个性化干预以改善患者预后。
    Migraine, a widespread and incapacitating neurological disorder, affects numerous individuals worldwide, causing severe headaches and impairing their quality of life. The interplay of genetic, environmental, and neurovascular factors underlies the pathophysiology of migraine. This report highlights the case of a 25-year-old woman with recurrent, severe headaches, predominantly in the right frontal and temporal regions. She was diagnosed with migraine with aura, a diagnosis supported by her family history. No previous history of seizures was reported. A comprehensive work-up, including neuroimaging, revealed left internal carotid artery hypoplasia with compensatory collateral circulation. The coexistence of severe migraines and left internal carotid artery hypoplasia underscores the complex interrelationship between cerebrovascular anomalies and neurological symptoms. The rarity of this vascular variation emphasizes the need for attentive clinical evaluation and consideration of anatomical deviations in migraine patients. As medical knowledge progresses, further research is essential to unravel the mechanisms connecting vascular anomalies and neurological disorders, ultimately leading to personalized interventions for improved patient outcomes.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    MIRAGE综合征是一种以骨髓增生异常为特征的罕见疾病,感染,生长限制,肾上腺发育不全,生殖器表型,和肠病。在这里,我们报道了一例MIRAGE综合征女孩,表现为肾上腺功能不全和慢性腹泻.
    患者出生时的胎龄为29+6周,出生体重为656g(<3p)。她的身高和头围也<3p。出生时,她出现了呼吸窘迫,胎粪染色,和纵隔肺炎,采用高频通气和经验性抗生素进行管理。体格检查显示广泛的色素沉着和正常的女性生殖器。出生后几天,出现多尿和低血压,实验室发现显示低血糖,低钠血症,和高钾血症.血浆促肾上腺皮质激素水平升高,血清皮质醇水平低,血浆肾素活性高,提示肾上腺功能不全。引入并维持了氢化可的松和氟氢可的松,色素沉着随着时间的推移而减弱。两个肾脏看起来发育不良,腹部超声无法追踪肾上腺。从生命的早期开始,检测到血小板减少和贫血,但没有达到危及生命的水平,并缓慢恢复到正常范围。尽管积极的营养支持,在住院期间,体重增加和生长突增严重受阻。此外,在引入肠内喂养后,她经历了严重的腹泻和随后的会阴皮疹和溃疡。粪便钙卫蛋白水平高度升高;然而,小肠活检导致非特异性粘膜下充血.患者诊断为MIRAGE综合征伴SAMD9基因突变。她继续接受管饲和基本配方喂养而出院,但慢性腹泻持续存在.在矫正年龄15个月的最后一次随访时,幸运的是,她没有遭受严重的侵袭性感染和骨髓增生异常综合征。然而,她依赖管饲,并表现出相当于约5-6个月大的严重发育迟缓。
    肾上腺危象的早期诊断和激素替代疗法可以挽救MIRAGE综合征患者的生命;然而,慢性顽固性腹泻和生长发育迟缓继续阻碍患者的健康。
    MIRAGE syndrome is a rare disease characterized by myelodysplasia, infection, growth restriction, adrenal hypoplasia, genital phenotypes, and enteropathy. Herein, we report the case of a girl with MIRAGE syndrome who presented with adrenal insufficiency and chronic diarrhea.
    The patient was born at 29 + 6 weeks of gestational age with a birth weight of 656 g (<3p). Her height and head circumference were also <3p. At birth, she presented with respiratory distress, meconium staining, and pneumomediastinum, which were managed with high-frequency ventilation and empirical antibiotics. Physical examination showed generalized hyperpigmentation and normal female genitalia. A few days after birth, polyuria and hypotension developed, and laboratory findings revealed hypoglycemia, hyponatremia, and hyperkalemia. Plasma adrenocorticotropic hormone levels were elevated with low serum cortisol levels and high plasma renin activity, which were suggestive of adrenal insufficiency. Hydrocortisone and fludrocortisone were introduced and maintained, and hyperpigmentation attenuated with time. Both kidneys looked dysplastic, and adrenal glands could not be traced on abdominal ultrasound. From the early days of life, thrombocytopenia and anemia were detected, but not to life-threatening level and slowly recovered up to the normal range. Despite aggressive nutritional support, weight gain and growth spurt were severely retarded during the hospital stay. Additionally, after introducing enteral feeding, she experienced severe diarrhea and subsequent perineal skin rashes and ulcerations. Fecal calprotectin level was highly elevated; however, a small bowel biopsy resulted in non-specific submucosal congestion. The patient was diagnosed with MIRAGE syndrome with SAMD9 gene mutation. She was discharged with tube feeding and elemental formula feeding continued, but chronic diarrhea persisted. By the time of the last follow-up at 15 months of corrected age, she was fortunately not subjected to severe invasive infection and myelodysplastic syndrome. However, she was dependent on tube feeding and demonstrated a severe developmental delay equivalent to approximately 5-6 months of age.
    The early diagnosis of adrenal crisis and hormone replacement therapy can save the life of -patients with MIRAGE syndrome; however, chronic intractable diarrhea and growth and developmental delay continue to impede the patient\'s well-being.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    背景:孤立性髌骨发育不全是一种非常罕见的常染色体显性遗传病。其治疗取决于可能差异很大的临床表现。缺乏积极的延伸,这可能是由于膝盖不稳定而经常跌倒的原因,是最常见和致残的表现。我们报告了一种原始技术,该技术是对Galeazzi技术的改进,用于在PTLAH的情况下使the骨反复脱位以获得主动延伸。
    方法:一名7岁的白人男孩,患有孤立性髌骨发育不全和右膝伸展滞后,已通过改良的Galeazzi技术治疗。已收获了半腱肌和gra肌的肌腱,并且它们的远端插入保持完整。将两个肌腱固定在髌骨顶部以恢复膝关节主动伸展。经过6年的随访,患者无症状,并且膝关节的手术能力很强。
    结论:改良Galeazzi手术重建孤立性髌骨发育不全是一种安全可靠的技术,适用于骨骼未成熟患者,可提供令人满意的长期结果。
    BACKGROUND: Isolated Patellar Aplasia Hypoplasia is a very rare autosomal dominant disorder. Its treatment depends on the clinical manifestations that can vary widely. The lack of active extension, which can be responsible for frequent falls due to a knee instability, is the most frequent and disabling manifestation. We report an original technique that is a modification of the Galeazzi technique for recurrent dislocation of the patella to gain active extension in case of PTLAH.
    METHODS: A 7-year-old Caucasian boy with isolated Patellar Aplasia Hypoplasia and an extension lag of the right knee has been treated by a modified Galeazzi technique. The tendons of the semi-tendinous and gracilis muscles have been harvested and their distal insertion was kept intact. Both tendons were fixed over the top of the patella to restore knee active extension. After 6 years of follow up the patient is symptom free with a strong active extension of the operated knee.
    CONCLUSIONS: Reconstruction of isolated hypoplasia of the patella by a modified Galeazzi procedure is a safe and reliable technique for skeletally immature patients offering satisfying long-term outcomes.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

公众号