Case Series Literature Review Research Articles

Molecular autopsy in Chinese sudden cardiac death in the young.

Inherited cardiovascular conditions are significant causes of sudden cardiac death in the young (SCDY), making their investigation using molecular autopsy and prevention a public health priority. However, the molecular autopsy data in Chinese population is lacking. The 5-year result (2017-2021) of molecular autopsy services provided for victims of SCDY (age 1-40 years) was reviewed. The outcome of family cascade genetic screening and clinical evaluation was reviewed. A literature review of case series reporting results of molecular autopsy on SCDY in 2016-2023 was conducted. Among the 41 decedents, 11 were found to carry 13 sudden cardiac death (SCD)-causative genetic variants. Likely pathogenic (LP) variants were identified in the DSP, TPM1, TTN, and SCN5A genes. Cascade genetic testing identified four family members with LP variants. One family member with familial TPM1 variant was found to have hypertrophic cardiomyopathy upon clinical evaluation. This study provided insight into the genetic profile of molecular autopsy in a Chinese cohort of SCDY. The detection of important SCD-causative variants through molecular autopsy has facilitated family cascade screening by targeted genetic testing and clinical evaluation of at-risk family members. A literature review of the current landscape of molecular autopsy in the investigation of SCDY was conducted.

Secondary Tumors Arising from Nevus Sebaceus: A Multicenter Collaborative Study and Literature Review

Background: Although various benign and malignant tumors can arise in nevus sebaceus (NS), the demographic and clinicopathological features of the secondary tumors vary among different published reports. The aim of this study was to obtain a better understanding of the features of tumors secondary to NS. Methods: A multicenter study was performed by reviewing patients diagnosed with NS from the Dermatology Department of the First Affiliated Hospital of Chongqing Medical University and Qijiang Hospital of the First Affiliated Hospital of Chongqing Medical University from 2010 to 2022. A literature review of case series of secondary tumors arising in NS was also conducted. Results: We retrospectively analyzed the literature on tumors secondary to NS published since 2000, with a total of 443 cases, and carefully studied cases of tumors arising in NS from multiple centers since 2010, with a total of 54 cases. There were 497 cases in this study; 90.3% were benign tumors (n = 449), and the rest were malignant tumors (9.7%, n = 48). Syringocystadenoma papilliferum was the most common benign tumor, followed by trichoblastoma and trichilemmoma. Basal cell carcinoma was the most common secondary malignant tumor to NS, followed by squamous cell carcinoma. Two of these cases developed metastasis. Secondary malignancies developed at an earlier age in Caucasians than in Hispanics and Asians. Conclusion: The present study is the largest analysis of tumors secondary to NS. Racial differences were seen in secondary tumors to NS and may contribute to healthcare disparities between races.

Children left unattended in parked school vehicles: Internet content analysis and systematic literature review of case series.

Purpose: Childhood injuries resulting from being left in vehicles are an important cause of pediatric mortality. However, no previous study has primarily focused on this occurrence in parked school vehicles. The aim of this study was to investigate the incidence and characteristics of children left unattended in parked school vehicles in Thailand, and systematically review the nature and causes of children being left unattended in parked school vehicles in the peer-reviewed published literature. Methods: We conducted a systematic literature review of three databases including PubMed, Scopus, and Web of Science using the specific search terms “parked vehicles” and “child”, and an online search of Thailand published news in websites for incidents that occurred over the 10 year period from January 2010 to December 2020. Results: We found five studies of 96 incidents of children left in parked vehicles; 10 cases occurred in school vehicles. From internet content analysis in Thailand, among 20 cases of children left unattended in parked vehicles, eight cases occurred in school vehicles. All cases were left more than 2 hours and resulted from being forgotten by the teacher or school driver. The median age of children was three. The majority of incidents occurred in the wet or summer season during the first school semester. Conclusion: Children left unattended in parked school vehicles occurred in children slightly older than those occurring in private vehicles, and they show a notable seasonal effect that is not driven by temperature alone but by occurring early in the academic calendar.

A multicentre study of 268 cases of calcifying odontogenic cysts and a literature review.

To investigate the frequency of calcifying odontogenic cysts (COCs) that have been submitted for microscopic examination from representative geographic regions of Brazil and to compare it with literature data. A retrospective study was conducted on biopsies obtained from 1953 to 2016 at 10 Brazilian oral and maxillofacial pathology centres. A total of 198,350 biopsy specimens were analysed. Demographic data and histopathological diagnosis were evaluated descriptively and statistically. In addition, a literature review of case series was carried out in four electronic databases. A total of 268 cases of COC were surveyed, representing 0.1% of the oral lesions at the centres studied. Female patients in their second decade of life and the maxilla were more affected. The mean lesion size of symptomatic individuals was larger than that of cases without symptoms (p=0.026). The literature review showed a higher frequency in Asia and Europe, mainly affecting men in the third decade of life. COC is a rare lesion. Novel data on the clinicopathological features of 268 cases have been added to the literature. Data regarding gender and age of the Brazilian patients reported herein contrast with findings of case series and retrospective studies reported elsewhere.

Complete Spondylectomy Using Orthogonal Spinal Fixation and Combined Anterior and Posterior Approaches for Thoracolumbar Spinal Reconstruction: Technical Nuances and Clinical Results.

Retrospective chart review. To determine the long-term efficacy of 2-stage total en bloc spondylectomy (TES). TES is a well-described technique to achieve tumor-free margins, but it is a highly destabilizing procedure that necessitates spinal reconstruction. A 2-stage anterior/posterior approach for tumor resection and instrumentation has been shown to be biomechanically superior to the single-stage approach in achieving rigid fixation, but few clinical studies with long-term outcomes exist. A retrospective review was performed on patients undergoing a 2-stage TES for a spinal tumor between 1999 and 2011. Results were compared with those from a literature review of case series, with a minimum of 2-year follow-up, reporting on a single-stage posterior-only approach for TES. Seven patients were identified (average follow-up 52.7 mo). Tumor location ranged from T1 to L3 with the following pathologies: metastasis (n=3), hemangioma (n=1), leiomyosarcoma (n=1), giant cell tumor (n=1), and chordoma (n=1). There were no significant surgical complications. All 7 patients had intact spinal fixation. There were no failures of the orthogonal fixation (pedicle screws or anterior fixation). The average modified Rankin Scale scores improved from 2.7 preoperatively to 0.7 at last follow-up. None of the patients in our series suffered local disease recurrence at last follow-up or suffered neurological deterioration. These results were comparable with those noted in the literature review of posterior-only approach, where 12% of patients experienced instrument failure. TES is a highly destabilizing procedure requiring reconstruction resistant to large multiplanar translational and torsional loads. A 2-stage approach utilizing orthogonal vertebral body screws perpendicular to pedicle screws is a safe and effective surgical treatment strategy. Orthogonal spinal fixation may lower the incidence of instrumentation failure associated with complete spondylectomy and appears to be comparable with a single-stage procedure. However, larger prospective series are necessary to assess the efficacy of this approach versus traditional means.

A Literature Review of Case Series of Soyang Person in Journal of Sasang Constitutional Medicine from 2007 to 2016

A Literature Review of Case Series of Soyang Person in Journal of Sasang Constitutional Medicine from 2007 to 2016

Abstract SY34-01: Infection causing cancer: An update on the global burden

Abstract SY34-01: Infection causing cancer: An update on the global burden

Poster 273 Isolated Rupture of Brachialis Muscle: A Case Series Literature Review

Poster 273 Isolated Rupture of Brachialis Muscle: A Case Series Literature Review

Erratum to: “Peripheral Cemento-Ossifying Fibroma: Case Series Literature Review”

In the paper titled “Peripheral Cemento-Ossifying Fibroma: Case Series Literature Review,” the order of the authors should be as shown here.

Peripheral Cemento-Ossifying Fibroma: Case Series Literature Review

The concept of fibroosseous lesions of bone has evolved over the last several decades and now includes two major entities: fibrous dysplasia and ossifying fibroma. Peripheral cemento-ossifying fibroma is a relatively rare tumour classified between fibroosseous lesions. It predominantly affects adolescents and young adults, with peak prevalence between 10 and 19 yrs. The cemento-ossifying fibroma is a central neoplasm of bone as well as periodontium which has caused considerable controversy because of confusion regarding terminology and the criteria for its diagnosis. The cemento-ossifying fibroma is odontogenic in origin, whereas ossifying fibroma is of bony origin. Lesions histologically similar to peripheral ossifying fibroma have been given various names in existing literature. Therefore, we present and discuss in this paper a series of cases of peripheral cemento-ossifying fibroma emphasizing the differential diagnosis.

How specific is the MRI appearance of supratentorial atypical teratoid rhabdoid tumors?

Supratentorial atypical teratoid rhabdoid tumor (ATRT) in many cases has a distinctive appearance on post-gadolinium MRI. We sought to determine whether this is a unique appearance allowing ATRT to be distinguished accurately from other types of pediatric supratentorial tumors. Retrospective review of all available preoperative MRI of pediatric supratentorial tumors at two tertiary children's hospitals, and systematic literature review of case series and reports describing the MRI imaging appearances of supratentorial ATRT. We had 61 supratentorial tumors, including 32 gliomas, 6 ATRT, 8 ependymomas, 6 gangliogliomas, 2 pilomyxoid astrocytomas, 3 primitive neuro-ectodermal tumors, 2 choroid plexus papillomas, and 2 meningiomas. ATRT presented in significantly younger patients than astrocytomas (mean age 2.6years vs. 9.9years, P < 0.05). The visual pattern of a thick, wavy (irregular) heterogeneously enhancing wall around a cystic center was seen in 5/6 (83%) ATRTs and only 3/55 (5.4%) other tumors (P < 0.0001), for specificity of 95%, sensitivity of 83%, positive predictive value of 63% and a negative predictive value of 95%. A supratentorial tumor with a thick, wavy (irregular) heterogeneously enhancing wall surrounding a central cystic region is suggestive of ATRT in the appropriate clinical setting, especially in a child of preschool age.

Aggressive Fibromatosis Treatment - Imatinib Challenges

Background: Desmoid tumor lately referred as aggressive fibromatosis (AF) is rare clinically heterogeneous and unpredictable disease with prevalence < 0.03% of all malignancies. The current standard treatment is: radical surgical treatment with tumour excision accompanied by radiotherapy and/or systemic approaches. The potential morbidity and the high local recurrence rates leaded investigators to assess the role of pharmacological approaches. The purpose of this review was to overview effectiveness of treatment options for AF and the role of imatinib mesylate (Glivec™; Novartis), in AF that has been published over the past decade. Material and Methods: Published clinical trials, studies, case reports and case series literature review, was carried out using the electronic databases PubMed/Medline from 2002 to 2012. Results: Reviewed literature included case reports, case series, retrospective studies and several small phase II trials. According to the review NSAIDs treatment performed positive response range of 37%-57%, COX 2 treatment (Meloxicam) up to 90% response, treatment with hormonal agents response ratio between 40%-50, positive responses for chemotherapy against AF of almost 50% and response rate for Imatinib ~10%. However several questions need to be answered: which is the most suitable treatment at certain AF condition, what is the optimal dose and duration of treatment since the lack of sufficient patient numbers and randomized trials compromises the validity of the reported results. Conclusions: Reviewed literature presents evidence that citotoxic and non-citotoxic systemic therapies other that surgery are effective against AF. Main issue that has to be processed is stronger validation of results by further investigation with precisely designed prospective studies with larger patient numbers and, with main end points that include tumor respones rate and survival as well as quality of life.

Complications of Pedicle Screw Fixation in Scoliosis Surgery

Systematic review. To review the published literature on the use of pedicle screws in pediatric spinal deformity to quantify the risks and complications associated with pedicle screw instrumentation, particularly in the thoracic spine. The use of pedicle screws in adolescent scoliosis surgery is common. Although many reports have been published regarding the use of pedicle screws in pediatric patients, there has been no systematic review on the risks of complications. PubMed, Ovid Medline, and Cochrane databases were searched for studies reporting the use of thoracic pedicle screws in pediatric deformity. We excluded articles dealing with neuromuscular scoliosis or bone dysplasia to focus mostly on adolescent thoracic idiopathic scoliosis and the likes. We then searched for cases reports dealing with thoracic pedicle screws complications. This systematic review retrieved 21 studies with a total of 4570 pedicle screws in 1666 patients. The mean age of the patients was 17.6 years; 812 patients were women and 252 were men, and 5 studies did not identify sex. Overall, 518 (4.2%) screws were reported as malpositioned. However, in studies in which postoperative computed tomography scans were done systematically, the rate of screw malpositioning was as high as 15.7%. The reported percentage of patients with screw malpositioned is around 11%. Eleven patients underwent revision surgery for instrumentation malposition. Other complications reported include loss of curve correction, intraoperative pedicle fracture or loosening, dural laceration, deep infection, pseudarthrosis, and transient neurologic injury. There were no major vascular complications reported in these 21 studies. We could identify 9 case report articles dealing with complications of pedicle screws. Such complications were mostly either vascular (10 cases) or neurologic (4 cases), without any irreversible complications. Malposition is the most commonly reported complication of thoracic pedicle screw placement, at a rate of 15.7% per screw inserted with postoperative computed tomography scans. The use of pedicle screws in the thoracic spine for the treatment of pediatric deformity has been reported to be safe despite the high rate of patients with malpositioned screws (11%). Major complications, such as neurologic or vascular injury, were almost never reported in this literature review of case series. Cases reports on the other hand have started to identify such complications.

Traumatic optic neuropathy. A meta-analysis.

The management of traumatic optic neuropathy remains controversial. Reports of improvement have been published after observation alone, treatment with corticosteroids and surgical decompressions. To systematically review the published literature about traumatic optic neuropathy using a meta-analysis. We performed a retrospective literature review of case series and case reports of traumatic optic neuropathy. They include all English language cases and selected non-English language cases for which patient data were available. The cases were organized into four grades based on visual acuity and the locations and type of fracture. Grade 1 included patients with visual acuity greater than 20/200 in the affected eye and without a posterior orbit fracture; grade 2, patients with visual acuity between 20/200 and light perception; grade 3, patients without light perception or with a nondisplaced posterior orbital fracture and remaining vision; and grade 4, patients with no light perception and a displaced posterior orbital fracture. A meta-analysis was performed, analyzing for each case the recovery of visual acuity for treatment, fracture pattern, and grade. The recovery of vision in treated patients was significantly better than the recovery in patients receiving no treatment. No significant difference in improvement was found among patients treated with corticosteroids alone, with surgical decompression alone, or with corticosteroids and surgical decompression. Recovery was related to the severity of initial injury, as reflected in the grading system. A trend was noted for better improvement of visual acuity in patients without orbital fractures than those with orbital fractures, and also in patients with anterior orbital fractures than in patients with posterior fractures. Treatment with corticosteroids, extracranial decompression, or both, is better than no treatment of traumatic optic neuropathy. Because the data are insufficient to determine whether corticosteroids, surgery, or the use of both treatments is most effective, the findings of the ongoing International Optic Nerve Trauma Study should prove valuable. The standardized grading system we developed is a useful tool for comparing studies and treatment protocols.