developmental

发育
  • 文章类型: Journal Article
    量化人内心理健康变化的能力是临床心理学使命的核心。通常,这是使用症状测量的总分或平均分来完成的;然而,这种方法假设度量量化了相同的结构,同样的方式,每次测量完成时。没有这种品质,称为纵向测量不变性,观察到的时间点之间的差异可能部分归因于测量特性的变化,而不是可比症状测量的变化.由于报告风格的潜在差异,这种担忧在研究中被放大,使用不同形式的测量跨发育期。项目措辞,和发展背景。本研究为焦虑量表的纵向测量不变性提供了最有力的支持,抑郁/情感问题:认知分量表,注意缺陷多动障碍(ADHD)量表;适度支持抑郁/情感问题量表和躯体量表,对抑郁/情感问题的支持不足:荷兰Achenbach基于经验的评估系统的躯体症状量表青年自我报告和成人自我报告,样本为1,309个人(N=1,090人群,在6波数据中,N=219基于诊所的/在11岁之前转诊到门诊诊所)(第1波中的平均年龄=11岁,第6波中的平均年龄=26岁)。
    The ability to quantify within-person changes in mental health is central to the mission of clinical psychology. Typically, this is done using total or mean scores on symptom measures; however, this approach assumes that measures quantify the same construct, the same way, each time the measure is completed. Without this quality, termed longitudinal measurement invariance, an observed difference between timepoints might be partially attributable to changing measurement properties rather than changes in comparable symptom measurements. This concern is amplified in research using different forms of a measure across developmental periods due to potential differences in reporting styles, item-wording, and developmental context. This study provides the strongest support for the longitudinal measurement invariance of the Anxiety Scale, Depression/Affective Problems: Cognitive Subscale, and the Attention Deficit Hyperactivity Disorder (ADHD) Scale; moderate support for the Depression/Affective Problems Scale and the Somatic Scale, and poor support for the Depression/Affective Problems: Somatic Symptoms Subscale of the Dutch Achenbach System of Empirically Based Assessment Youth Self-Report and Adult Self-Report in a sample of 1,309 individuals (N = 1,090 population-based, N = 219 clinic-based/referred to an outpatient clinic before age 11 years) across six waves of data (mean ages = 11 years at Wave 1 and 26 years at Wave 6).
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  • 文章类型: Journal Article
    背景:目前描述农村儿科门诊的病例组合数据的证据有限。这些数据的收集和分析对于卫生服务规划至关重要,促进在特定社区内确定需要的领域,以支持儿科医疗保健的情境提供。
    目的:描述在农村儿科服务的最初12个月中看到的患者的病例组合,为农村卫生服务规划提供依据。
    方法:回顾性队列研究。
    结果:研究期间有149次初次咨询。71.8%的患者存在行为/发育问题,64.4%的患者存在身体问题。这导致38.9%的患者具有问题类型的组合。42.9%的患者被转诊或已经获得专职医疗服务,而20%的人正在获得专门的儿科支持服务,如国家残疾保险计划和儿童保护服务。对45%的患者进行了调查,43%的病例服用药物。只有5.4%的患者在初次预约后出院。与初次任命时相比,转诊时发现的问题存在显着差异,这表明该服务对农村社区的价值。
    结论:病例组合数据说明了农村儿科队列具有复杂和慢性疾病负担,尤其是在行为和发育问题方面。这些发现增加了有关农村儿科患者护理的文献,并证明了在中等规模的农村城镇中嵌入式儿科服务的价值。
    BACKGROUND: There is limited current evidence describing the case mix data of rural paediatric outpatient clinics. Collection and analysis of this data is essential for health service planning, facilitating the identification of areas of need within specific communities to support contextualised delivery of paediatric health care.
    OBJECTIVE: To describe the case mix of patients seen during the initial 12 months of a rural paediatric service, providing evidence to inform rural health service planning.
    METHODS: A retrospective cohort study.
    RESULTS: There were 149 initial consultations during the study period. Behavioural/developmental problems were found in 71.8% of patients and physical problems were present in 64.4% of patients. This resulted in 38.9% of patients having a combination of problem types. 42.9% of patients were referred to or already accessing allied health services, while 20% were accessing specialised paediatric support services such as the National Disability Insurance Scheme and child protection services. Investigations were ordered for 45% of patients, with medications prescribed in 43% of cases. Only 5.4% of patients were discharged after their initial appointment. There were significant differences in problems identified on the referral compared to at the initial appointment demonstrating the value of this service to a rural community.
    CONCLUSIONS: The case mix data illustrates a rural paediatric cohort with a complex and chronic burden of disease especially in terms of behavioural and developmental problems. These findings add to the literature on rural paediatric patient care and demonstrate the value of an embedded paediatric service in a medium sized rural town.
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  • 文章类型: Case Reports
    正畸牙源性囊肿(OOC)是一种独特且罕见的颌骨牙源性囊肿。它以前被认为是牙源性角化囊肿的正交化变体,由于其相同的网站,年龄、发生和起源。2017年,世卫组织将OOC归类为牙源性囊肿,是一个独特的实体。清楚地将其与牙源性角化囊肿(OKC)分开。在恶性转化的情况下,囊肿边界不清.在2019-2021年期间向该部门报告的病例被检索,然后由作者进行审查。本研究共纳入7例符合OOC组织病理学标准的病例。有明显的男性偏爱。患者的年龄介于17至65岁之间。大多数病例显示单眼射线不透性,但一例显示多房型。大致标本范围在0.5cm至3.0cm之间。组织病理学发现显示了OOC的所有经典特征。FNAC也已完成,很明显,细胞学的使用可以帮助我们早期诊断囊肿,并且是一种侵入性较小的方法。OOC是一种罕见的牙源性囊肿,但是在进行诊断时,不应忘记它的侵略性较小,需要与OKC区分开。大多数情况下,已经看到,对受累牙齿周围的任何限制性射线不透性进行的临床影像学诊断是牙科囊肿,这是不正确的。诊断此类病变需要彻底的组织病理学和影像学相关性以及分子分析以达到最终诊断。
    Orthokeratinised odontogenic cyst (OOC) is a distinct and an uncommon odontogenic cyst of jaw. It was previously considered as orthokeratinized variant of Odontogenic Keratocyst, owing to its same site, age and occurrence and origin. In 2017 WHO classified OOC under odontogenic cysts as a distinct entity, clearly separating it from Odontogenic Keratocyst (OKC). In cases of malignant transformation, the cyst shows unclear boundaries. The cases that reported to the department during the period 2019-2021 were retrieved and then reviewed by the authors. A total of 7 cases that met the histopathological criteria for OOC were included in the study. There was a clear male predilection. Age of patients ranged between 17 to 65 years. Most of cases showed Unilocular radiolucency but one case revealed Multilocular pattern. Grossly specimens ranged between 0.5 cm to 3.0cms. Histopathological findings showed all classic features of OOC. FNAC was also done and it is clearly evident that the use of Cytology can help us diagnose the cyst early and is a less invasive method. OOC is a rare type of odontogenic cyst, but while making the diagnosis one should not forget about the fact that it is less aggressive and needs to be differentiated from OKC. Majority times it has been seen that Clinico-radiographic diagnosis given of any circumscribed radiolucency around an impacted tooth is Dentigerous cyst, which is not correct. Diagnosing such lesions require thorough histopathological and radiographical correlation along with molecular analysis to reach final diagnosis.
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  • 文章类型: Case Reports
    UNASSIGNED:椎体前部发育不全是青少年椎体畸形的一种相对罕见的亚型。这种畸形的常见表现是脊柱侧凸和脊柱后凸,而没有脊柱侧凸的脊柱后凸是罕见的。这里,我们提出了一个非常罕见的情况下,青少年发作的局部后凸畸形,前柱发育不全和腰椎小关节半脱位,如动态横向放射图所示,通过脊柱缩短截骨术成功治疗。
    UNASSIGNED:一名16岁男性青少年在首次就诊前3年出现腰背痛伴腰椎棘突进行性突出。直到13岁才在他的背部发现突起。他的主要主诉是下背部疼痛和上腰椎棘突突出。整个脊柱的前后X线照片显示没有明显的脊柱侧凸。侧位X线照片显示L2椎体前部发育不全,L1-3为23°局部后凸。全球联盟向后移动,伴有胸椎后凸和下腰椎前凸。在动态横向射线照片中,L2-3脊柱水平的小关节在屈曲位置半脱位。计算机断层扫描显示L2椎体前部对称发育不全。在L2和L1-3后路融合处进行脊柱缩短截骨术,以局部稳定和纠正矢状位错位。术后2年随访的侧位放射照片表明,整体对准是正常的,在-2°的L1-3处局部后凸。实现了胸椎后凸和下腰椎前凸的改善。
    UNASSIGNED:青少年型局部腰椎后凸畸形伴前柱发育不全和小关节节段性半脱位非常罕见。通过短融合的脊柱缩短截骨术进行局部矫正也可以改善整体对准。
    UNASSIGNED: Hypoplasia of the anterior portion of the vertebral body is a relatively rare subtype of juvenile vertebral deformity. The common manifestations of this type of deformity are scoliosis and kyphoscoliosis, while kyphosis without scoliosis is rare. Here, we present a very rare case of adolescent-onset local kyphosis with anterior column hypoplasia and subluxation of the facet joints of the lumbar spine, as demonstrated by dynamic lateral radiograms, which was successfully treated by spine-shortening osteotomy.
    UNASSIGNED: A 16-year-old male adolescent presented with low back pain with progressive protrusion of the lumbar spinous process 3 years before the first visit. The protrusion was not found in his back until the age of 13 years. His chief complaint was lower back pain and a protruding spinous process in the upper lumbar spine. The anteroposterior radiogram of the whole spine revealed no obvious scoliosis. The lateral radiogram showed hypoplasia of the anterior portion of the L2 vertebral body with local kyphosis at L1-3 of 23°. The global alignment was posteriorly shifted, with hypokyphosis of the thoracic spine and hyperlordosis of the lower lumbar spine. In the dynamic lateral radiograms, the facet joints at the L2-3 spinal level were subluxated in the flexed position. Computed tomography showed symmetrical hypoplasia of the anterior portion of the vertebral body of L2. Spine-shortening osteotomy at L2 and L1-3 posterior fusion was performed for local stabilization and correction of sagittal malalignment. The lateral radiogram at the 2-year post-operative follow-up demonstrated that the global alignment was normal, with local kyphosis at L1-3 of -2°. The improvement of hypokyphosis of the thoracic spine and hyperlordosis of the lower lumbar spine was achieved.
    UNASSIGNED: Adolescent-onset local lumbar kyphosis with anterior column hypoplasia and segmental subluxation of the facet joints is very rare. Local correction by spine-shortening osteotomy with short fusion can also improve the global alignment.
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  • 文章类型: Case Reports
    耳背骨形态发生蛋白结合内皮调节因子(BMPER)和坐骨脊髓发育不良(ISD)是罕见的骨骼发育不良。有一个连续的临床表现,DSD处于光谱的严重末端,而ISD则朝向温和末端。两者都是由于BMPER中的致病变体引起的。先前的研究报告了来自13个家庭的20名患者。到目前为止报告的队列中的共同特征是脊柱和肋骨异常,但其他发现说明了表型变异。生存范围从新生儿期内的死亡到19岁的存活和良好。我们展示了三个具有可变表型的兄弟姐妹,增加了BMPER相关骨骼发育不良的单一定义的证据。我们强调需要持续的护理计划和谨慎的预后,由临床团队定期审查。
    Diaphonospondylodysotosis (DSD) and ischiospinal dysostosis (ISD) are rare skeletal dysplasias with variants in the bone morphogenetic protein-binding endothelial regulator (BMPER). There is a continuum of clinical presentation, with DSD at the severe end of the spectrum whilst ISD is towards the milder end. Both are caused due to pathogenic variants in BMPER. Previous studies have reported 20 patients from 13 families. Common features in the cohort reported so far are spinal and rib anomalies but other findings illustrate phenotypic variation. Survival ranges from death within the neonatal period to alive and well at 19 years. We present three siblings with variable phenotype, adding to the evidence for a single definition of BMPER-related skeletal dysplasia. We highlight the need for ongoing care planning and guarded prognostication, with regular review by clinical teams.
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  • 文章类型: Journal Article
    暂无摘要。
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  • 文章类型: Case Reports
    毛发胚胎发生是一个复杂的过程。这种皮肤附属物的发育起源于外胚层和中胚层。适当的毛发形成需要多种信号通路和调节。然而,偶尔会出现异常现象,如毛囊基质中的异位皮脂腺。报告了两名表现出这种发育异常的男子,并回顾了发生毛囊成熟异常的个体的特征。此外,总结了毛囊的解剖结构,并讨论了毛发形态发生的胚胎学特征。毛囊基质异位皮脂腺的发生是对智力阴谋的观察,其发病机理和临床意义尚待确定。
    Hair embryogenesis is a complex process. The development of this skin appendage originates from both ectoderm and mesoderm layers. Multiple signaling pathways and regulation are required for proper hair formation. However, anomalies occasionally arise, such as ectopic sebaceous glands in the hair follicle matrix. Two men who demonstrate this developmental anomaly are reported and the characteristics of individuals in whom this aberration in hair follicle maturation has occurred are reviewed. In addition, the anatomy of the hair follicle is summarized and the embryologic features of hair morphogenesis are discussed. The occurrence of hair follicle matrix ectopic sebaceous glands is an observation of intellectual intrigue for which the pathogenesis and clinical implications remain to be determined.
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  • 文章类型: Case Reports
    围产期卒中儿童的神经认知结果因其他神经/医学因素而复杂化。这项研究的主要目的是回顾性检查5名患有围产期卒中并伴有越来越复杂的合并症的儿童的长期神经认知结局;首次评估时年龄为5-7岁。结果显示,在合并围产期中风和合并症的病例中,智力和学术技能显着降低。随着医学复杂性的增加,儿童的早期语言发展特别容易受到干扰。神经认知缺陷的延迟出现强调需要对神经认知发展进行连续评估以确定早期服务和干预措施。
    Neurocognitive outcomes in children with perinatal stroke are complicated by additional neurological/medical factors. The main objective of this study was to retrospectively examine long-term neurocognitive outcomes in five children with perinatal stroke with increasingly complex comorbidities; ages 5-7 at first evaluation. Results revealed that intelligence and academic skills were significantly decreased in cases with combined perinatal stroke and comorbidities. Early language development was particularly vulnerable to disruption over time in children with increasing medical complexity. The delayed emergence of neurocognitive deficits emphasizes the need for serial assessment of neurocognitive development to identify early services and interventions.
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  • 文章类型: Case Reports
    Mucopolysaccharidosis type VII (MPS VII) is an inherited disease characterized by the cellular accumulation of undegraded GAGs due to the deficiency of the lysosomal enzyme β-glucuronidase. We describe a case of a 2-year-old female affected by a moderate form of MPS VII and submitted twice to HSCT with the aim of stabilizing skeletal problems and preventing neurocognitive alterations. The child underwent a second transplantation due to the rejection of the graft after a reduced-intensity conditioning in the first transplant. A myeloablative regimen allowed to achieve a stable full donor engraftment and normal enzyme levels during the 6 years of follow-up. Clinically, we observed stabilization of skeletal deformities and normal neurocognitive development. This is one of the few reports of mucopolysaccharidosis type VII treated with allogeneic HSCT.
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  • 文章类型: Journal Article
    BACKGROUND: Sprengel deformity is a rare congenital shoulder girdle anomaly characterized by scapula malposition, periscapular muscle atrophy, and limited shoulder movement. Traditionally, it has been managed by omovertebral bar excision and muscle transplantation procedures guided by age and Cavendish grade. We present a unique observation in humans: a case series with Sprengel deformity possessing a cleithrum, an ancestral remnant of shoulder girdle development found in archaic bony fish.
    METHODS: Nine patients presented with so-called Sprengel deformity to a tertiary referral shoulder clinic. All were assessed clinically and radiologically with scapular radiographs and computed tomography or magnetic resonance imaging scans. The clinical and radiologic features were classified according to Cavendish and Rigault systems, respectively, and the scapular ratio was assessed.
    RESULTS: All patients were assigned grade 4 on the Cavendish scale. Six were grade 2 and 3 were grade 3 on the Rigault scale. The distinguishing pathoanatomic feature was partial endomuscular ossification of medial scapular suspension muscles, analogous to the cleithrum of bony fish. Five cases were treated operatively and 4 nonoperatively. Mean elevation and abduction significantly improved in surgical cases.
    CONCLUSIONS: This finding not only challenges classic management of these rare patients but offers insight into scapular embryology and development. The association of scapular developmental and urogenital anomalies suggests that screening of the renal tract and genetic investigation in those with undescended scapula syndrome be considered. We suggest, to emphasize the nature of incomplete scapular descent and associated congenital anomalies and to clarify imprecise common use of the term Sprengel deformity, that this condition be called the congenital undescended scapula syndrome.
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