Epiphyses, Slipped

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  • 文章类型: Journal Article
    表观生理溶解是青少年人群(9-16岁)中相对常见的疾病;然而,这在成年人口中很少见。其特征在于非创伤性股骨近端滑脱。当它发生在这个人群中时,它与一些减缓性发育和身体闭合的疾病有关。如内分泌疾病或脑肿瘤。本研究的目的是报告一名22岁的低促性腺激素性性腺功能减退患者的表皮溶解病例。世界文献中只有63例报道了成年人的表皮溶解。
    Epiphysiolysis is a relatively common disease in the adolescent population (9-16 years); however, it is rare in the adult population. It is characterized by non-traumatic proximal femur slipping. When it occurs in this population it is associated with some disease that slows sexual development and physis closure, such as endocrine diseases or brain tumors. The aim of the present study is to report a case of epiphysiolysis in a 22-year-old patient with hypogonadotropic hypogonadism. There are only 63 cases reported in the world literature on epiphysiolysis in the adult population.
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  • 文章类型: English Abstract
    OBJECTIVE: The goal of surgery is the anatomical reduction and stable internal fixation of an epiphysiolysis of the medial clavicle with posterior luxation in a child without harming intrathoracic structures.
    METHODS: This case describes an acute epiphysiolysis of the medial clavicle Aitken type 0 with posterior dislocation.
    METHODS: Soft tissue infections within the region of the surgical access. Allergies against any materials used in the procedure. Successful closed reduction. Additional fracture of the clavicular shaft.
    METHODS: A detailed overview of the surgical technique is available through the video, which is accessible online as well as the graphic overview in this article. Longitudinal incision over the medial clavicle up to the sternoclavicular joint and preparation onto the bony structures. Display of the epiphysiolysis. Reduction of the medial clavicle. Introduction of two Kirscher wires along the longitudinal axis in the direction of the epiphysis and introduction of two sutures. Puncture of the cartilaginous epiphysis with the two sutures. Anatomical reduction of the medial clavicle and fixation by knots. With the continuous use of the sutures, fixation to the anterior periosteum and closure of the periosteum. Wound closure.
    RESULTS: For 6 weeks postoperative limitation of anteversion and abduction to 90°, afterwards unlimited functionality. No routine X‑ray control.
    RESULTS: After 6 months postoperative the patient is free of pain and has full range of motion. The Constant score is 97/100.
    UNASSIGNED: OPERATIONSZIEL: Ziel bei einer Epiphysiolyse der medialen Klavikula mit posteriorer Luxation beim Kind ist das Erreichen einer anatomischen Reposition und stabilen internen Fixierung, ohne die intrathorakalen Strukturen zu verletzen.
    UNASSIGNED: Es handelt sich um eine akute Epiphysiolyse der medialen Klavikula vom Typ 0 nach Aitken mit posteriorer Dislokation.
    UNASSIGNED: Weichteilinfektion im Zugangsbereich. Allergie gegen verwendetes Fremdmaterial. Erfolgreiche geschlossene Reposition. Zusätzliche Klavikulaschaftfraktur.
    UNASSIGNED: Eine detaillierte Beschreibung der Operationstechnik kann dem online zur Verfügung gestellten Operationsvideo und der grafischen Übersicht der Operationsschritte entnommen werden: Längsschnitt ca. 3 cm über der medialen Klavikula bis zum Sternoklavikulargelenk reichend und weitere Präparation in die Tiefe. Darstellen der Epiphysiolyse. Reposition der medialen Klavikula. Einbringen von 2 Kirschner-Drähten entlang der Längsachse der Klavikula in Richtung Epiphyse und Einbringen von 2 Faden-Cerclagen. Durchstechen der knorpeligen Epiphyse mit den vorgelegten Fäden. Anatomische Reposition der medialen Klavikula mithilfe einer Repositionszange und Fixierung durch Knoten. In Kontinuität Verwendung des Nahtmaterials zur Fixierung am vorderen Periost und Verschluss des Periosts. Wundverschluss.
    UNASSIGNED: Für 6 postoperative Wochen Limitierung von 90° für Anteversion und Abduktion, danach freifunktioneller und sukzessiver Belastungsaufbau. Keine routinemäßigen Röntgenkontrollen.
    UNASSIGNED: Nach 6 Monaten postoperativ ist der Patient schmerzfrei, die Beweglichkeit der Schulter ist in allen Ebenen frei. Der Constant-Score beträgt 97/100.
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    文章类型: Journal Article
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  • 文章类型: Case Reports
    我们介绍了一名患有先天性肌病和先天性尺骨表皮松解的患者。全外显子组测序分析揭示了处于复合杂合状态的激活信号共整合体复合物1(ASCC1)基因中的两个新突变-剪接变体c.395-2A>G和前两个编码外显子的缺失。ASCC1基因中的纯合和复合杂合子LoF变体导致脊髓性肌萎缩伴先天性骨折2(SMABF2)的严重表型。迄今为止描述的所有患者都出现严重的肌肉低张力,先天性骨折,出生后不久就去世了,而我们的先证者有中度的低张力,没有骨折,但表皮松解术,检查时他3.5岁。为了解释我们病人的表型,我们对所有家族成员进行了RNA分析.我们发现c.395-2A>G变体导致两种异常mRNA同种型。我们还验证了ASCC1基因中两个外显子的缺失,这导致该截短转录物的表达增加了1.8倍。为了研究这种缺失对表型的可能影响,我们预测了外显子4中的新Kozak序列,该序列可能导致形成具有缩短的KH结构域和完整的RNA连接酶样结构域的截短蛋白。我们建议,ASCC1相关疾病的先证者的这种出乎意料的不同表型可以通过表达增加的截短蛋白的存在来解释。
    We present a patient with congenital myopathy and an inborn epiphysiolysis of the ulna. Whole-exome sequencing analysis revealed two novel mutations in Activation Signal Cointegrator Complex 1 (ASCC1) gene in a compound heterozygous state-a splicing variant c.395-2A>G and a deletion of the first two coding exons. Homozygous and compound heterozygous LoF variants in ASCC1 gene lead to a severe phenotype of spinal muscular atrophy with congenital bone fractures 2 (SMABF2). All patients described to date presented with a severe muscular hypotony, inborn fractures, and passed away shortly after birth while our proband had moderate hypotony, no fractures, but epiphysiolysis and he was 3.5 years old at the time of examination. To explain the phenotype of our patient, we performed an RNA analysis of all family members. We discovered that the c.395-2A>G variant results in two aberrant mRNA isoforms. We also validated the deletion of two exons in ASCC1 gene that lead to the increased expression of this truncated transcript by 1.8 times. To investigate the possible impact of this deletion on the phenotype we predicted a new Kozak sequence in exon 4 that could lead to the formation of a truncated protein with shortened KH domain and a full RNA ligase-like domain. We suggest that this unexpectedly different phenotype of the proband with ASCC1-related disorder could be explained by the presence of the truncated protein with an increased expression.
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  • 文章类型: Case Reports
    Fracture separation of the epiphysis from the distal femur is a elatively rare lesion in newborns, but it has been documented as a difficult complication of labor. Most of the cases occur at the distal humeral level and exceptionally affect the femur. Epiphysiolysis of the distal femur is practically not described. They are normally located in the upper third of the femur due to a twisting movement of the femur in breech deliveries and even in difficult caesarean sections. The differential diagnosis at the beginning of the examination is usually with septic arthritis of the newborn. This difficult and infrequent diagnosis arises from a 3-day-old baby who presents for his post-discharge check-up with swelling in one of his knees.
    La separación por fractura de la epífisis del fémur distal es una lesión relativamente poco frecuente en los recién nacidos, pero se ha documentado como una complicación del parto distócico. La mayoría de los casos ocurren a nivel distal del húmero y, de manera excepcional, afectan al fémur. La epifisiolisis distal del fémur casi no está descrita en la literatura. Se localizan normalmente en el tercio superior del fémur por un movimiento de torsión de este en los partos en posición podálica e incluso en cesáreas distócicas. El diagnóstico diferencial al inicio de la exploración suele ser con artritis séptica del recién nacido. A partir de un paciente de 3 días de vida que se presenta a su control posterior al alta con tumefacción en una de sus rodillas, se plantea este difícil e infrecuente diagnóstico.
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  • 文章类型: Journal Article
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  • 文章类型: Journal Article
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  • 文章类型: Case Reports
    We describe a case of posterior hip dislocation in a 13-year-old boy after a contact football injury with attempted closed reduction resulting in complete separation of the epiphysis from the femoral neck metaphysis with associated femoral head fracture and posterior dislocation of the femoral head. Treatment was emergently performed with a greater trochanteric osteotomy, open reduction internal fixation using cannulated screws, and additional small diameter drill holes in the femoral head to promote blood flow. The patient did well postoperatively and at over 4 years follow-up had no evidence of avascular necrosis and returned to full athletics participation.
    Particular attention should be taken when reducing hip dislocations in the adolescent population who may be predisposed to epiphysiolysis. Preservation of periosteal soft-tissue attachments and the use of small diameter drill holes to promote femoral head blood flow may have contributed to the excellent outcome.
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  • 文章类型: Case Reports
    The therapeutic approach for the treatment of children with radiologically \"normal\" hip presenting with epiphysiolysis of the contralateral upper femur is controversial. We here report the case of a 12-year-old boy with osteonecrosis of radiologically \"normal\" and asymptomatic left femoral head prophylactically fixed due to acute femoral epiphysiolysis of the contralateral hip. Eight months after first surgery, the patient developed symptoms of avascular osteonecrosis of the femoral head. Specific criteria to be used in evaluating the most effective treatment between preventive screw or simple close monitoring exist. Despite these criteria, the risk of osteonecrosis in the \"healthy\" hip is not zero.
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