keyword
https://read.qxmd.com/read/34798323/broadening-the-phenotype-of-lrrk1-mutations-features-of-malignant-osteopetrosis-and-optic-nerve-atrophy-with-intrafamilial-variable-expressivity
#21
JOURNAL ARTICLE
Odelia Chorin, Guy Chowers, Rawan Agbariah, Shani Karklinsky, Ortal Barel, Ifat Bar-Joseph, Haike Reznik-Wolf, Jana Shamash, Ben Pode-Shakked, Jeffrey M Jacobson, Ruth Huna-Baron, Yael Redler, Irit Tirosh, Asaf Vivante, Annick Raas-Rothschild
Osteosclerotic metaphyseal dysplasia is a rare disorder which features osteosclerosis involving long bones, vertebrae, ribs, clavicles and the iliac crests. Additional features which have variably been reported include developmental delay, short stature, hypotonia and seizures. The disease is caused by pathogenic variants in the LRRK1 gene, and inherited in an autosomal recessive manner. We report three siblings (ages 14 years, 11.5 years and 0.9 years), born to consanguineous parents of Arab-Muslim descent, harboring a homozygous pathogenic variant in the LRRK1 gene (Chr15:101068759 AGGGGCT>A, c...
January 2022: European Journal of Medical Genetics
https://read.qxmd.com/read/34649240/correlation-between-nen-bone-metastasis-performance-and-tumor-proliferation-112-cases-of-68ga-ga-dota-tate-result-analysis
#22
JOURNAL ARTICLE
Qing Xie, Ming Lu, Shizhen Zhai, Rui Guo, Changzhi Du, Hua Zhu, Nan Li, Jiangyuan Yu, Zhi Yang
PURPOSE: This study aimed to analyze neuroendocrine neoplasm (NEN) bone metastasis (BM) and gallium-68 (68Ga)-DOTA-TATE performance and to explore their correlation with the immunohistochemical proliferation index (Ki-67). PROCEDURES: A total of 112 patients with BMs were screened from 1082 NEN patients who underwent [68Ga]Ga-DOTA-TATE imaging. All patients had pathological results, and BMs were affirmed by clinical/imaging follow-up and/or histopathology. The maximum standard uptake value (SUVmax) ratio of BM to normal bone determined for each patient was used in the final analysis...
2022: Neuroendocrinology
https://read.qxmd.com/read/34356962/gorham-stout-disease-with-multiple-bone-involvement-challenging-diagnosis-of-a-rare-disease-and-literature-review
#23
REVIEW
Alina Momanu, Lavinia Caba, Nicoleta Carmen Gorduza, Oana Elena Arhire, Alina Delia Popa, Victor Ianole, Eusebiu Vlad Gorduza
Gorham-Stout disease is a rare disorder, which may result in a poor prognosis. This disease, a rare lymphangiomatosis, is defined by progressive bone disappearance due to massive unicentric and multicentric osteolysis. Osteolytic lesions of the spine and pleura effusion are poor prognostic factors. Herein, we will present a case where the onset of disease occurred at the age of 18 with asthenia, myalgia, and major bone pain, followed by incomplete motor deficiency in the lower limbs and, later, in the upper limbs...
July 2, 2021: Medicina
https://read.qxmd.com/read/34215637/subclavian-artery-laceration-following-clavicle-fracture-successfully-treated-with-a-combined-endovascular-and-open-surgical-approach
#24
JOURNAL ARTICLE
Samuel Arnold, Darina Gilroy, Peter Laws, Josh Kempthorne
Subclavian artery injury is a rare complication of clavicle fracture. The fractured clavicle can lacerate the underlying subclavian artery. Life-threatening haemorrhage can occur secondary to arterial laceration, and if distal blood flow is impaired, upper limb ischaemia can develop. There is little discussion in the literature regarding combined (or 'hybrid') endovascular and open surgical management of acute subclavian injuries secondary to clavicle fracture. We report a case of subclavian artery laceration secondary to clavicle fracture, managed with a combined endovascular and open surgical approach...
July 2, 2021: BMJ Case Reports
https://read.qxmd.com/read/34141518/dynamic-occlusion-of-distal-ventriculoperitoneal-shunt-catheter-after-infusion-port-placement-a-new-shunt-malfunction
#25
Lacey M Carter, Camille K Milton, Kyle P O'Connor, Arpan R Chakraborty, Tressie M Stephens, Chad A Glenn
Shunt failure requiring reintervention remains a common complication of hydrocephalus treatment. Here, we report a novel cause of mechanical shunt obstruction in an adult patient: position-dependent intermittent occlusion via an infusion port catheter. A 51-year-old woman with a grade II oligodendroglioma presented in a delayed fashion following surgery with a pseudomeningocele. She underwent ventriculoperitoneal shunt placement due to communicating hydrocephalus, resolving her pseudomeningocele. Shortly thereafter, she underwent placement of a subclavian infusion port at an outside institution...
January 2021: Journal of Neurological Surgery Reports
https://read.qxmd.com/read/34039202/clavicle-fractures-with-associated-acute-neurovascular-injury
#26
JOURNAL ARTICLE
Maximilian A Meyer, Dafang Zhang, Mark D Price, Neal C Chen, Michael J Weaver, George S M Dyer, Brandon E Earp
Descriptions of acute neurovascular injury after clavicle fracture are limited to case reports. The objectives of this study were to assess both the prevalence of acute neurovascular injury after midshaft clavicle fracture and the outcomes of early fracture stabilization. A retrospective chart review was conducted of all adult patients with midshaft clavicle fracture who were treated surgically at 2 tertiary care referral centers from January 2010 to March 2019. The records of patients who were identified as having clinical or radiographic evidence of neurovascular compromise were reviewed to assess for deficits on physical examination on presentation, relevant radiographic and electro-diagnostic findings, timing and type of fixation, and time until resolution of symptoms and radiographic union postoperatively...
May 2021: Orthopedics
https://read.qxmd.com/read/33966101/comparison-of-supraclavicular-nerve-injuries-after-clavicle-mid-shaft-surgery-via-minimally-invasive-plate-osteosynthesis-versus-open-reduction-and-internal-fixation
#27
JOURNAL ARTICLE
Sang-Hun Ko, Myung-Seo Kim
INTRODUCTION: Only a few previous studies have evaluated the factors related to supraclavicular nerve (SCN) injury after clavicle mid-shaft fracture surgery. We analyzed the frequency and risk factors for SCN injury after clavicle mid-shaft fracture surgery via open reduction and internal fixation (ORIF) versus minimally invasive plate osteosynthesis (MIPO) MATERIALS AND METHODS: We retrospectively reviewed the cases from 59 patients who had undergone surgery for clavicle mid-shaft fractures between January 2018 and April 2019...
August 2022: Archives of Orthopaedic and Trauma Surgery
https://read.qxmd.com/read/33667913/thoracic-outlet-syndrome-in-a-patient-with-sapho-syndrome-a-case-report
#28
H Ohida, C Curuk, H Prescher, E Stegemann, Th Bürger
INTRODUCTION AND IMPORTANCE: Thoracic outlet syndrome (TOS) includes disorders caused by compression of the neurovascular structures in the upper thoracic outlet (Roos and Owens, 1996 [1]; Bürger, 2014; Curuk, 2020 [3]). Depending on the compressed structure, it is categorized into neurological, arterial and venous TOS. SAPHO syndrome (synovitis-acne-pustulosis-hyperostosis-osteitis syndrome) is a rare chronic inflammatory disease of unknown etiology. With its typical involvement of sternoclavicular joint and clavicle, complication due to hyperostosis in this region, leading to thrombosis of the subclavian vein have been reported in some cases of SAPHO syndrome...
March 2021: International Journal of Surgery Case Reports
https://read.qxmd.com/read/33628544/sinking-skin-flap-syndrome-following-posttraumatic-hydrocephalus
#29
Ashish Chugh, Prashant Punia, Sarang Gotecha
Introduction: Complications following craniotomy are not uncommon and Sinking Skin Flap Syndrome (SSFS) constitutes a rare entity that may present after a large Decompressive Craniectomy. Although the entity is widely reported, the literature mostly consists of case reports. Authors present a case series of three patients with review of literature highlighting the various factors which can prove therapeutic and can help in avoidance of complications. Materials and Methods: The study was conducted over a period of 3 years, from 2016 to 2019, and included 212 patients who underwent unilateral Decompressive Craniectomy (DC) for trauma in our institute...
2021: Case Reports in Neurological Medicine
https://read.qxmd.com/read/33554163/acute-brachial-plexus-deficit-due-to-clavicle-fractures
#30
Leïlani A Delaune, Laurent Wehrli, Yael Maeder, Frédéric Vauclair, Kevin Moerenhout
No abstract text is available yet for this article.
January 2021: JSES international
https://read.qxmd.com/read/33423993/a-retrospective-analysis-of-risk-factors-for-clavicle-fractures-in-newborns-with-shoulder-dystocia-and-brachial-plexus-injury-a-single-center-experience
#31
JOURNAL ARTICLE
Ali Erkan Yenigül, Nefise Nazlı Yenigül, Emre Başer, Runa Özelçi
OBJECTIVE: We aimed to analyze the risk factors for clavicle fractures in newborns with shoulder dystocia and brachial plexus injury and to determine whether their incidence is associated with local characteristics. METHODS: This study was conducted as a retrospective trial between January 2017 and December 2018. Patients with clavicular fracture who were hospitalized in the neonatal intensive care unit of a community hospital were retrospectively analyzed. The clavicular fracture cohort was first divided into two groups and then two subgroups: patients with/without shoulder dystocia and patients with/without a brachial plexus injury...
November 2020: Acta Orthopaedica et Traumatologica Turcica
https://read.qxmd.com/read/32918636/conditional-unnecessity-of-head-ct-for-whole-body-ct-of-traffic-accident-victims-a-pilot-study
#32
JOURNAL ARTICLE
Minako Azuma, Hiroshi Nakada, Keiji Kitatani, Norihiro Shinkawa, Zaw Aung Khant, Hidenobu Ochiai, Toshinori Hirai
PURPOSE: To investigate whether head CT should be included in whole-body CT in road traffic accident victims. METHODS: A review of electronic medical records identified 124 patients (81 males, 43 females; age 4 to 92 years, mean 47.7 years) involved in a road traffic accident in a 12-month period. All had undergone whole-body CT and physical and neurologic examinations. We recorded their age, sex, Glasgow Coma Scale (GCS), systolic blood pressure (SBP), the type of traffic accident, and the presence/absence of visible trauma above the clavicles (VTCs) and of acute traumatic brain injury (TBI) on CT...
September 12, 2020: Emergency Radiology
https://read.qxmd.com/read/32672151/skeletal-involvement-in-children-with-langerhans-cell-histiocytosis-healing-complications-and-functional-outcome
#33
Ahmed H K Abdelaal, Mohamed Sedky, Seham Gohar, Iman Zaki, Asmaa Salama, Omayma Hassanain, Ahmed M El Ghoneimy
INTRODUCTION: Skeletal involvement in children with Langerhans cell histiocytosis (LCH) is a common feature of the disease. Several options for the treatment of these skeletal lesions have been reported. We describe our experience in the treatment of skeletal involvement of LCH in this retrospective case series study, entailing anatomic distribution, pattern of healing, skeletal deformities, and functional outcome of skeletal LCH. METHODS: A retrospective analysis was conducted for patients diagnosed with LCH and having skeletal lesions in the period between 2007 and 2015...
2020: SICOT-J
https://read.qxmd.com/read/32378483/open-surgical-approach-for-type-ii-endoleak-in-subclavian-artery-pseudoaneurysm-presented-with-neurological-symptoms-after-endovascular-repair
#34
REVIEW
Fatemeh Malekpour, Katherine Hebeler, Melissa L Kirkwood
We present a rare case of a 10-cm right subclavian artery pseudoaneurysm, with slow growth over 4 years after a traumatic fracture of the right clavicle. The patient had multiple prior endovascular attempts of embolization and stenting at other hospitals; despite this the pseudoaneurysm continued to grow and caused mass effect and neurologic symptoms. We present our open approach for the repair and a review of literature.
July 2020: Vascular and Endovascular Surgery
https://read.qxmd.com/read/32233649/symptomatic-malunion-after-midshaft-clavicle-fracture-in-an-adolescent-patient-a-case-report-of-surgical-deformity-correction-using-a-3d-printed-model
#35
JOURNAL ARTICLE
P Consigliere, J Tyler, D Tennent, E Pearse
A 14-year-old boy underwent surgery for symptomatic malunion of the clavicle. This complication, which is uncommon in adults and adolescents, occurred after a displaced midshaft clavicle fracture that had been treated conservatively. Surgery may be considered if functional impairment, pain, weakness, fatigability and neurological symptoms persist in the presence of significant clavicular deformity. Our case was unusual because the patient had a symptomatic malunion and lost range of movement of his shoulder despite a minor degree of clavicular shortening...
July 2020: Annals of the Royal College of Surgeons of England
https://read.qxmd.com/read/31859722/thoracic-outlet-syndrome-a-narrative-review
#36
REVIEW
Nilo Olímpio Masocatto, Thales Da-Matta, Thauane Garcia Prozzo, Wilson José Couto, Gustavo Porfirio
The Thoracic Outlet Syndrome (TOS) results from compression of the brachial plexus, the subclavian artery and the subclavian vein in the thoracic outlet region. This compression may take place between the clavicle and the first rib or by a number of anatomical variations. Neurological compression is the most common form of thoracic outlet syndrome. Vascular complications occur infrequently. Arterial complications usually result from compression of the subclavian artery by a complete cervical rib. Venous complications are often related to muscle compression of the subclavian vein...
2019: Revista do Colégio Brasileiro de Cirurgiões
https://read.qxmd.com/read/31852870/-sudden-onset-monoplegia-of-the-upper-limb-due-to-traumatic-subclavian-artery-pseudoaneurysm-after-an-interval-of-three-days-from-tumbling
#37
JOURNAL ARTICLE
Kazuma Tsuto, Keisuke Imai, Masashi Hamanaka, Tetsuro Takegami, Kazunari Ookawa, Yasushi Yoshihara
A 66-year-old woman was admitted to our institution with sudden-onset weakness of her left upper limb. Neurological examination revealed monoplegia and sensory loss of the limb. A brain MRI did not find evidence of an acute ischemic stroke. Her medical history revealed that she had fallen and bruised her shoulder 3 days earlier. Detailed physiological examination revealed that there was a mild subcutaneous ecchymosis with tenderness in the left shoulder. An additional contrast-enhanced chest CT scan showed a fracture of the clavicle diaphysis and a pooling contrast agent demonstrating a 60*40 mm mass near the left subclavian artery (SUB-A) which suggested a pseudoaneurysm...
December 17, 2019: Rinshō Shinkeigaku, Clinical Neurology
https://read.qxmd.com/read/31467966/two-cases-of-brachial-plexus-compression-secondary-to-displaced-clavicle-fractures
#38
Naomi E Gadinsky, Emma T Smolev, Michael J Ricci, Douglas N Mintz, David S Wellman
Brachial plexus compression is a rare complication of displaced clavicle fractures, with few reports existing in the literature. Neurologic symptoms can present immediately after the injury or in a delayed fashion months later. Following polytrauma, two patients presented with displaced middle-third left clavicle fractures initially treated conservatively at other institutions. Both patients developed neurologic symptoms in the left upper extremity consistent with brachial plexus compression. Magnetic resonance imaging and electrodiagnostic testing were used to help confirm the diagnosis of thoracic outlet syndrome/brachial plexopathy, and both patients underwent open reduction internal fixation with dual plating, local bone grafting and brachial plexus decompression...
October 2019: Trauma Case Reports
https://read.qxmd.com/read/31445714/patterns-of-bone-metastases-from-head-and-neck-squamous-cell-carcinoma
#39
JOURNAL ARTICLE
Ayako Suzuki, Nobuo Kashiwagi, Hiroshi Doi, Kazunari Ishii, Katsumi Doi, Mutsukazu Kitano, Takenori Kozuka, Tomoko Hyodo, Masakatsu Tsurusaki, Yukinobu Yagyu, Katsuyuki Nakanishi
OBJECTIVE: To report clinical features of bone metastases (BM) from head and neck squamous cell carcinoma (HNSCC). METHODS: Among 772 patients with HNSCC diagnosed at our hospital over 9 years, 30 patients (3.9%) had clinical evidence of BM (24 men and 6 women; mean age: 63 years). We assessed the time interval from the primary diagnosis to BM development, symptoms attributable to BM, presence of distant metastases to other organs, number of BM, sites of BM, morphologic changes on computed tomography (CT) images, treatment for BM, and overall survival (OS)...
August 21, 2019: Auris, Nasus, Larynx
https://read.qxmd.com/read/31392227/evaluation-of-clinical-criteria-for-performing-brain-ct-scan-in-patients-with-mild-traumatic-brain-injury-a-new-diagnostic-probe
#40
JOURNAL ARTICLE
Roghieh Molaei-Langroudi, Ahmad Alizadeh, Ehsan Kazemnejad-Leili, Vahid Monsef-Kasmaie, Seyed-Younes Moshirian
Objective: To investigate the risk factors that can be proper indications for performing brain computerized tomography (CT)-scan in patients with mild and moderate traumatic brain injury (TBI) in order to avoid unnecessary exposure to radiation, saving on costs as well as time wasted in emergency wards. Methods: Data of patients with mild traumatic brain injury (TBI) referring to Emergency Department with age ≥2 years and primary GCS of 13-15 were examined including focal neurological deficit, anisocoria, skull fracture, multiple trauma, superior injury of clavicle, decreased consciousness, and amnesia...
July 2019: Bulletin of Emergency and Trauma
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