Objective: The authors report a rare case of giant thoracic meningocele causing acute respiratory compromise, treated with a ventriculoperitoneal shunt. Case Report: We report the case of a 36-year-old with severe sco...Objective: The authors report a rare case of giant thoracic meningocele causing acute respiratory compromise, treated with a ventriculoperitoneal shunt. Case Report: We report the case of a 36-year-old with severe scoliosis status post repair over a decade ago, neurofibromatosis type I, and a known large meningocele in the left thoracic cavity, presenting with new acute respiratory compromise. She was taken to the operating room for a lumboperitoneal shunt, but the operation was aborted due to her severe spinal deformity. Two days later, she successfully underwent a procedure for ventriculoperitoneal shunt placement. Upon discharge a week later, the patient was hemodynamically stable, able to move all extremities with good strength, and demonstrated improved oxygenation. In the following 7 months, the patient demonstrated continued minimal requirement on nasal cannula, and MRI showed a stable left thoracic giant meningocele. Conclusion: Ventriculoperitoneal shunting is a method of treating and stabilizing acutely symptomatic giant meningoceles.展开更多
Objective: The authors report a rare case of ossification of the anterior longitudinal ligament in the cervical spine underlying dysphagia. Case Report: We report the case of a 50-year-old male presenting with difficu...Objective: The authors report a rare case of ossification of the anterior longitudinal ligament in the cervical spine underlying dysphagia. Case Report: We report the case of a 50-year-old male presenting with difficulty swallowing and choking. CT of the cervical spine demonstrated anterior longitudinal ligament hypertrophy with osteophytes worst at C1-C2 and C6-C7, without spinal cord compression. A videofluoroscopic swallow study revealed reduced epiglottic inversion and hyolaryngeal elevation resulting in incomplete clearance from the pharynx, as well as compression of the esophagus. Subsequently, the patient underwent osteophytectomy. There were no intraoperative or postoperative complications. Two weeks after the surgery, videofluoroscopic swallow demonstrated improved function and reduced compression. Four weeks postoperatively, the patient completely regained swallowing function without pain.展开更多
Objective: The authors report an extremely rare case of stroke-mimicking, spontaneous cervical epidural hematoma treated with tissue plasminogen activator (TPA). Case Report: We report the case of a 69-year-old female...Objective: The authors report an extremely rare case of stroke-mimicking, spontaneous cervical epidural hematoma treated with tissue plasminogen activator (TPA). Case Report: We report the case of a 69-year-old female presenting with left-sided hemiparesis of the arm and leg. She was administered by TPA because she was thought to have an ischemic stroke and intracranial CT showed no hemorrhage. However, her neurological condition continued to decline, and MRI of her cervical spine revealed a large spontaneous epidural hematoma. Subsequently, the patient underwent emergency surgery. Conclusions: TPA administration to spinal epidural hematoma (SEH) patients is dangerous. Because cervical epidural hematomas can mimic stroke, the attending medical staff needs to exercise vigilance in diagnosis. In addition to the head, the spine should also be scanned prior to TPA administration.展开更多
Introduction: Langerhans cell histiocytosis (LCH) is a group of idiopathic disorders characterized by the proliferation of specialized bone marrow-derived Langerhans cells (LCs) and mature eosinophils, resulting in so...Introduction: Langerhans cell histiocytosis (LCH) is a group of idiopathic disorders characterized by the proliferation of specialized bone marrow-derived Langerhans cells (LCs) and mature eosinophils, resulting in solitary or few, indolent and chronic, lesions of bone or other organs called eosinophilic granulomas. Calvarial LCH is quite rare and an underappreciated differential etiology of skull lesions. We present a most unusual case of a young child with hyperacutely symptomatic langerhans histiocytosis of the skull. Method: A 7-year-old male presented with a history of increasing (progressive) frontal headaches of 8 days duration, unaccompanied by associated nausea, vomiting, or diplopia. His only additional complaint was a hard bump on his forehead. MRI and CT done in the ER identified a right fronto-parietal lesion with associated skull erosion. Nuclear medicine and SPECT studies confirmed an erosive skull lesion without significant metabolic activity. A right frontal craniectomy and excision was performed. Results: A soft, rubbery well-circumcised mass coming from the diploic layer of the skull with involvement of bone was identified. The mass had eroded both the outer and inner table of the skull, and the involved area of the right frontal bone was resected. Intra-operative histo-pathologic analysis of the lesion revealed Langerhans cell histiocytosis without involvement of the dura. The patient experienced no neurological worsening as a result of the resection. He was discharged home in stable condition. Conclusion: LCH lesions of the skull are common findings, however, this focal hyperacute symptomatic presentation is most rare and should not deter us from anticipating an erosive bony tumor and planning timely surgical management.展开更多
Objective and Importance: The authors report a case of a symptomatic giant serpentine MCA aneurysm treated with double STA-MCA bypass with thrombectomy and excision of aneurysm. This is the first reported case of a do...Objective and Importance: The authors report a case of a symptomatic giant serpentine MCA aneurysm treated with double STA-MCA bypass with thrombectomy and excision of aneurysm. This is the first reported case of a double bypass with concomitant thrombectomy and excision of aneurysmal segment. Clinical Presentation/Methods: We report the case of a 27-year-old Hispanic male with severe acute decline in mental status with a giant serpentine MCA aneurysm with significant mass effect and midline shift trapping the lateral ventricular system. Intervention/Results: Patient presented initially to an outside hospital for altered mental status and confusion. Patient was diagnosed with a giant serpiginous aneurysm and hydrocephalus. A left ventriculoperitoneal shunt was placed at the outside hospital and patient was transferred to University of New Mexico. At this time, his mental status declined rather abruptly. He was treated with a double STA-MCA bypass procedure with aneurysm resection.展开更多
The Human Genome Project marked a milestone in scientific exploration,unraveling the genetic blueprint of humanity.However,expectations of direct gene–disease associations gave way to realizing the complexity of gene...The Human Genome Project marked a milestone in scientific exploration,unraveling the genetic blueprint of humanity.However,expectations of direct gene–disease associations gave way to realizing the complexity of genetic interactions,especially in polygenic diseases.This review explores the legacy of the HGP and subsequent advancements in genomic technologies,particularly next-generation sequencing,which have enabled more profound insights into the non-coding genome's role in gene regulation.While initially dismissed as“junk”DNA,non-coding regions are now officially approved as critical gene expression and genome organization regulators.Through integrative genomics approaches and advanced computational methods,researchers have unveiled the intricate network of enhancers,promoters,and chromatin modifications orchestrating gene expression.High-throughput sequencing techniques and functional assays have identified non-coding variants associated with numerous diseases,challenging the conventional focus on coding sequences in genomic studies.By elucidating the regulatory mechanisms governing gene expression,researchers can advance precision medicine approaches and develop novel diagnostic tools.As genomic research continues to evolve,a vast landscape is waiting to be explored,promising transformative insights into human health and disease.This review provides a comprehensive overview of the non-coding genome's role in gene regulation and its implications for understanding complex diseases and developing targeted therapeutic interventions.展开更多
文摘Objective: The authors report a rare case of giant thoracic meningocele causing acute respiratory compromise, treated with a ventriculoperitoneal shunt. Case Report: We report the case of a 36-year-old with severe scoliosis status post repair over a decade ago, neurofibromatosis type I, and a known large meningocele in the left thoracic cavity, presenting with new acute respiratory compromise. She was taken to the operating room for a lumboperitoneal shunt, but the operation was aborted due to her severe spinal deformity. Two days later, she successfully underwent a procedure for ventriculoperitoneal shunt placement. Upon discharge a week later, the patient was hemodynamically stable, able to move all extremities with good strength, and demonstrated improved oxygenation. In the following 7 months, the patient demonstrated continued minimal requirement on nasal cannula, and MRI showed a stable left thoracic giant meningocele. Conclusion: Ventriculoperitoneal shunting is a method of treating and stabilizing acutely symptomatic giant meningoceles.
文摘Objective: The authors report a rare case of ossification of the anterior longitudinal ligament in the cervical spine underlying dysphagia. Case Report: We report the case of a 50-year-old male presenting with difficulty swallowing and choking. CT of the cervical spine demonstrated anterior longitudinal ligament hypertrophy with osteophytes worst at C1-C2 and C6-C7, without spinal cord compression. A videofluoroscopic swallow study revealed reduced epiglottic inversion and hyolaryngeal elevation resulting in incomplete clearance from the pharynx, as well as compression of the esophagus. Subsequently, the patient underwent osteophytectomy. There were no intraoperative or postoperative complications. Two weeks after the surgery, videofluoroscopic swallow demonstrated improved function and reduced compression. Four weeks postoperatively, the patient completely regained swallowing function without pain.
文摘Objective: The authors report an extremely rare case of stroke-mimicking, spontaneous cervical epidural hematoma treated with tissue plasminogen activator (TPA). Case Report: We report the case of a 69-year-old female presenting with left-sided hemiparesis of the arm and leg. She was administered by TPA because she was thought to have an ischemic stroke and intracranial CT showed no hemorrhage. However, her neurological condition continued to decline, and MRI of her cervical spine revealed a large spontaneous epidural hematoma. Subsequently, the patient underwent emergency surgery. Conclusions: TPA administration to spinal epidural hematoma (SEH) patients is dangerous. Because cervical epidural hematomas can mimic stroke, the attending medical staff needs to exercise vigilance in diagnosis. In addition to the head, the spine should also be scanned prior to TPA administration.
文摘Introduction: Langerhans cell histiocytosis (LCH) is a group of idiopathic disorders characterized by the proliferation of specialized bone marrow-derived Langerhans cells (LCs) and mature eosinophils, resulting in solitary or few, indolent and chronic, lesions of bone or other organs called eosinophilic granulomas. Calvarial LCH is quite rare and an underappreciated differential etiology of skull lesions. We present a most unusual case of a young child with hyperacutely symptomatic langerhans histiocytosis of the skull. Method: A 7-year-old male presented with a history of increasing (progressive) frontal headaches of 8 days duration, unaccompanied by associated nausea, vomiting, or diplopia. His only additional complaint was a hard bump on his forehead. MRI and CT done in the ER identified a right fronto-parietal lesion with associated skull erosion. Nuclear medicine and SPECT studies confirmed an erosive skull lesion without significant metabolic activity. A right frontal craniectomy and excision was performed. Results: A soft, rubbery well-circumcised mass coming from the diploic layer of the skull with involvement of bone was identified. The mass had eroded both the outer and inner table of the skull, and the involved area of the right frontal bone was resected. Intra-operative histo-pathologic analysis of the lesion revealed Langerhans cell histiocytosis without involvement of the dura. The patient experienced no neurological worsening as a result of the resection. He was discharged home in stable condition. Conclusion: LCH lesions of the skull are common findings, however, this focal hyperacute symptomatic presentation is most rare and should not deter us from anticipating an erosive bony tumor and planning timely surgical management.
文摘Objective and Importance: The authors report a case of a symptomatic giant serpentine MCA aneurysm treated with double STA-MCA bypass with thrombectomy and excision of aneurysm. This is the first reported case of a double bypass with concomitant thrombectomy and excision of aneurysmal segment. Clinical Presentation/Methods: We report the case of a 27-year-old Hispanic male with severe acute decline in mental status with a giant serpentine MCA aneurysm with significant mass effect and midline shift trapping the lateral ventricular system. Intervention/Results: Patient presented initially to an outside hospital for altered mental status and confusion. Patient was diagnosed with a giant serpiginous aneurysm and hydrocephalus. A left ventriculoperitoneal shunt was placed at the outside hospital and patient was transferred to University of New Mexico. At this time, his mental status declined rather abruptly. He was treated with a double STA-MCA bypass procedure with aneurysm resection.
文摘The Human Genome Project marked a milestone in scientific exploration,unraveling the genetic blueprint of humanity.However,expectations of direct gene–disease associations gave way to realizing the complexity of genetic interactions,especially in polygenic diseases.This review explores the legacy of the HGP and subsequent advancements in genomic technologies,particularly next-generation sequencing,which have enabled more profound insights into the non-coding genome's role in gene regulation.While initially dismissed as“junk”DNA,non-coding regions are now officially approved as critical gene expression and genome organization regulators.Through integrative genomics approaches and advanced computational methods,researchers have unveiled the intricate network of enhancers,promoters,and chromatin modifications orchestrating gene expression.High-throughput sequencing techniques and functional assays have identified non-coding variants associated with numerous diseases,challenging the conventional focus on coding sequences in genomic studies.By elucidating the regulatory mechanisms governing gene expression,researchers can advance precision medicine approaches and develop novel diagnostic tools.As genomic research continues to evolve,a vast landscape is waiting to be explored,promising transformative insights into human health and disease.This review provides a comprehensive overview of the non-coding genome's role in gene regulation and its implications for understanding complex diseases and developing targeted therapeutic interventions.
