OpenMed/multicare-articles huggingface dataset:
Multisystem failure and death due to extensive hemorrhaging and brain herniation subsequent to a bite by an unidentified snake
Authors: N D B Ehelepola, S M A N Samaranayake, B M L S Basnayake, C G K Amiyangoda, D M U C B Dhanapala, K L R Kalupahana
Journal: Trop Med Health (2016)
Keywords: acute kidney injury, brain hemorrhage, brain herniation, case report, coagulopathy, russell’s viper, snake envenomation, snakebites, sri lanka
MeSH terms: Case Reports

Background:
Snakebites cause considerable morbidity and mortality in tropical and subtropical countries even though existing treatment methods can prevent most deaths if presentation occurs early to hospitals. Envenomation by unidentified snakes is common in central Sri Lanka. Management of such patients is challenging especially if presentation is late.
Case presentation:
Here, we report a case of a 52-year-old man from central Sri Lanka who presented late after being bitten by an unidentified snake. He developed `severe coagulopathy, neurotoxicity, acute kidney injury, and rhabdomyolysis. Subsequently, despite of treatment, he died due to extensive hemorrhaging in many organs. A large intracranial hemorrhage lead to fatal brain herniation.
Conclusions:
Envenomation by some snake species can severely affect multiple body systems and give rise to fatal brain hemorrhages and brain herniation. Considering the known effects of local snake venom, the responsible species is likely to be Russell's viper (Daboia russelii). We recommend some simple measures to reduce the chances of such deaths in the future.
Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2
Authors: Yafang Hu, Haishan Jiang, Qun Wang, Zuoshan Xie, Suyue Pan
Journal: PLoS One (2013)
MeSH terms: Asian People / genetics, Ataxia / diagnosis, Ataxia / genetics, Calcium Channels / genetics, Codon, Nonsense, Nystagmus, Pathologic / diagnosis, Nystagmus, Pathologic / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, Aged, Base Sequence, China, Female, Humans, Male, Middle Aged, Pedigree, Young Adult, CACNA1A protein, human, Calcium Channels, Codon, Nonsense, Episodic Ataxia, Type 2

Type 2 episodic ataxia (EA2) is the most common subtype among a group of rare hereditary syndromes characterized by recurrent attacks of ataxia. More than 60 mutations and several gene rearrangements due to large deletions in CACNA1A gene have been reported so far for the cause of EA2. Because CACNA1A gene is a large gene containing 47 exons and there is no hot spot mutation, direct sequencing will be a challenge in clinical genetic testing. In this study, we used next generation sequencing technology to identify a novel nonsense mutation of CACNA1A (p.Tyr1957Ter, NP_001120693.1) resulting in truncated protein without 305 amino acids in the c-terminus. Sanger sequencing confirmed the heterozygous mutation of CACNA1A in a Chinese family with 11 affected individuals. Affected individuals experienced recurrent attacks with or without nystagmus, dysarthria, seizure, myokymia, dystonia, weakness, blurred vision, visual field defects, diplopia, migraine, dizziness, nausea and vomiting, sweating and abdominal pain. This is the first report of EA2 in a Chinese family that carries a novel mutation in CACNA1A gene and had abdominal pain as a novel phenotype associated with EA2.
Fostering Conservation via an Integrated Use of Conventional Approaches and High-Throughput SPET Genotyping: A Case Study Using the Endangered Canarian Endemics Solanum lidii and S. vespertilio (Solanaceae)
Authors: Pietro Gramazio, Ruth Jaén-Molina, Santiago Vilanova, Jaime Prohens, Águedo Marrero, Juli Caujapé-Castells, Gregory J Anderson
Journal: Front Plant Sci (2020)
Keywords: canary islands, snps, spet, solanaceae, solanum, conservation, endangered endemics, reproductive biology

Islands provide unique opportunities to integrated research approaches to study evolution and conservation because boundaries are circumscribed, geological ages are often precise, and many taxa are greatly imperiled. We combined morphological and hybridization studies with high-throughput genotyping platforms to streamline relationships in the endangered monophyletic and highly diverse lineage of Solanum in the Canarian archipelago, where three endemic taxa are currently recognized. Inter-taxa hybridizations were performed, and morphological expression was assessed with a common-garden approach. Using the eggplant Single Primer Enrichment Technology (SPET) platform with 5,093 probes, 74 individuals of three endemic taxa (Solanum lidii, S. vespertilio subsp. vespertilio, and S. vespertilio subsp. doramae) were sampled for SNPs. While morphological and breeding studies showed clear distinctions and some continuous variation, inter-taxon hybrids were fertile and heterotic for vigor traits. SPET genotyping revealed 1,421 high-quality SNPs and supported four, not three, distinct taxonomic entities associated with post-emergence geological, ecological and geographic factors of the islands. Given the lack of barriers to hybridization among all the taxa and their molecular differences, great care must be taken in population management. Conservation strategies must take account of the sexual and breeding systems and genotypic distribution among populations to successfully conserve and restore threatened/endangered island taxa, as exemplified by Solanum on the Canary Islands.
Case report: complete remission with crizotinib in ROS1 fusion-positive sinonasal mucosal melanoma
Authors: Jun Cao, Yaner Yu, Yangkun Zhou, Qing Ji, Wenkang Qian, Dongdong Jia, Gu Jin, Yajun Qi, Xin Li, Ningning Li, Tao Li, Meiyu Fang, Hongchuan Jin
Journal: Front Oncol (2022)
Keywords: ros1, complete remission, crizotinib, mucosal melanoma, sinonasal
MeSH terms: Case Reports

Introduction:
Sinonasal mucosal melanoma (SNMM) originates from melanocytes. Currently, the main treatment methods, including surgery, radiotherapy and chemotherapy, have little effect on the recurrence and metastasis of SNMM. However, targeted therapy may be a breakthrough in treating SNMM.
Methods:
A SNMM patient with ROS1 fusion received 250mg Crizotinib capsule (2 times a day, 1 tablet each time) therapy.
Results:
The patient achieved partial remission after 4 months of treatment and complete remission after 8 months of treatment.
Conclusion:
Our findings suggest that crizotinib can be an option to improve overall survival and quality of life of patients with metastatic ROS1-fusion SNMM. We believe that our report will provide insights for the application of crizotini in the treatment of melanoma.
Lymphomatoid granulomatosis treated successfully with rituximab in a renal transplant patient
Authors: Cindy Castrale, Wael El Haggan, Françoise Chapon, Oumedaly Reman, Thierry Lobbedez, Jean Philippe Ryckelynck, Bruno Hurault de Ligny
Journal: J Transplant (2011)
MeSH terms: Case Reports

Lymphomatoid granulomatosis (LYG) in renal transplant recipients is rare multisystemic angiocentric lymphoproliferative disorder with significant malignant potential. Here, we describe LYG in a 70-year-old renal allograft recipient who, 4 years after transplantation, on tacrolimus and mycophenolate mofetil and prednisone maintenance immunosuppression, complained of low-grade fever, persistent headache and gait disturbance. The MRI of the brain revealed diffuse periventricular cerebral and cerebellar contrast-enhanced lesions. The CT scan of the thorax showed multiple pulmonary nodular opacities in both lung fields. The patient was diagnosed LYG based on the cerebral biopsy showing perivascular infiltration of CD20-positive B-lymphocytes with granulomatous lesions and immunofluorescence staining with anti-EBV antibodies. With careful reduction of the immunossuppression combined with the use of rituximab, our patient showed a complete disappearance of LYG, and she is clinically well more than 4 years after the diagnosis, with good kidney function. No recurrence has been observed by radiological imaging until now. This is the first report of a durable (>4 years) complete remission of LYG after treatment with rituximab in renal transplantation.
Case report: Microcirculatory leukocytes in a pediatric patient with severe SARS-CoV-2 pneumonia. Findings of leukocytes trafficking beyond the lungs
Authors: Gabriella Bottari, Can Ince, Valerio Confalone, Salvatore Perdichizzi, Chiara Casamento Tumeo, Joseph Nunziata, Stefania Bernardi, Francesca Calò Carducci, Laura Lancella, Paola Bernaschi, Cristina Russo, Carlo Federico Perno, Corrado Cecchetti, Alberto Villani
Journal: Front Pediatr (2022)
Keywords: sars-cov-2, inflammation, micro-thrombosis, microcirculation, pediatric critical care, rolling leukocytes
MeSH terms: Case Reports

Background:
SARS-CoV-2 can lead to excessive coagulation and thrombo-inflammation with deposition of microthrombi and microvascular dysfunction. Several studies in human and animal models have already evidenced biomarkers of endothelial injury during SARS-CoV-2 infection. Real-time observation of sublingual microcirculation using an handheld vital microscopy with an Incident Dark Field (IDF) technique could represent a non-invasive way to assess early signs of microvascular dysfunction and endothelial inflammation in patients with severe COVID-19 infection.
Clinical case:
We report for the first time in a pediatric patient with severe SARS-CoV-2 pneumonia findings about microcirculatory leukocytes in the sublingual microcirculation of a 7 month-old patient admitted to our PICU using handheld vital microscopy with IDF technique.
Results:
Sublingual microcirculation analysis revealed the presence of microcirculatory alterations and an extensive presence of leukocytes in the patient's sublingual microcirculation. It's significant to underline how the patient didn't show a contextual significant increase in inflammatory biomarkers or other clinical signs related to an inflammatory response, beyond the presence of severe hypoxic respiratory failure.
Conclusion:
Leukocyte activation in multiple organs can occur at the endothelial lining of the microvasculature where a surge of pro-inflammatory mediators can result in accumulation of activated leukocytes and degradation of the endothelium. The introduction of a method to assess in a non-invasive, real-time manner the extent of inflammation in a patient with COVID19 could lead to potential clinical and therapeutic implications. However, more studies are required to prove that studying leukocytes microcirculation using sublingual microcirculation analysis could be useful as a bedside point of care monitor to predict the presence of systemic inflammation associated with the impact of COVID-19, leading in a late phase of severe SARS-CoV-2 infection to a microvascular dysfunction and micro-thrombosis.
Treatment of Severe Hip Dysplasia with Leg Length Discrepancy Using Spherical Periacetabular Osteotomy
Authors: Yu Takeda, Tomokazu Fukui, Shigeo Fukunishi
Journal: Case Rep Orthop (2022)
MeSH terms: Case Reports

Case. A 20-year-old woman with severe subluxation of the hip displayed a leg length discrepancy of approximately 20 mm. The proposed treatment was a spherical periacetabular osteotomy (SPO) for joint preservation and postoperative leg length maintenance. SPO is a novel periacetabular osteotomy procedure. At her 3-year follow-up, the patient had functional, pain-free motion and high satisfaction. In this case, the SPO technique was able to achieve satisfactory clinical results without further exacerbating the leg length discrepancy after surgery.
Accidental Drowning: The Importance of Early Measures of Resuscitation for a Successful Outcome
Authors: Ljiljana S Sulovic, Aleksandar P Pavlovic, Jovan B Zivkovic, Zorica N Zivkovic, Snezana S Filipovic-Danic, Slađana V Trpkovic
Journal: Case Rep Emerg Med (2018)
MeSH terms: Case Reports

Case report:
The case of a drowning teenager is described involving application of cardiopulmonary resuscitation (CPR) by an untrained rescuer in the field and fast transport to a hospital enabling a positive resuscitation outcome despite an underorganized emergency medical service in a rural area. In our case hypoxia led to extended functional disorders of the cardiovascular system, which fully recovered after adequate therapy.
Conclusion:
Knowledge about BLS measures by ordinary citizens, together with continuous education of health professionals concerning modern techniques of CPR, is crucial for increasing the number of patients surviving after cardiac arrest.
Case Report: Lymphohistiocytic Myocarditis With Severe Cardiogenic Shock Requiring Mechanical Cardiocirculatory Support in Multisystem Inflammatory Syndrome Following SARS-CoV-2 Infection
Authors: Xavier Bemtgen, Karin Klingel, Markus Hufnagel, Ales Janda, Christoph Bode, Dawid L Staudacher, Alexander Supady, Ilona Jandova
Journal: Front Cardiovasc Med (2021)
Keywords: covid-19, impella®, mis-c, multisystem inflammatory syndrome in children, v-a ecmo, myocardial biopsy
MeSH terms: Case Reports

Multisystem Inflammatory Syndrome (MIS) is a novel hyperinflammatory syndrome associated with SARS-CoV-2 infection. It predominantly affects children (MIS-C) a few weeks after a usually asymptomatic SARS-CoV-2 infection and is only rarely seen in adults above 21 years (MIS-A). Only scarce data on histological findings in both pediatric and adult patients has been published so far. An 18-year-old male patient was admitted to hospital in a febrile state, which progressed to severe cardiogenic shock and multi-organ failure requiring extracorporeal life support. Myocardial biopsy revealed small vessel-associated immune cell infiltrates. Diagnosis of MIS-C was made after ruling out all potential differential diagnosis. Use of immunosuppressive treatment with steroids, interleukin-1 blockade and high-dose intravenous immunoglobulins resulted in the patient's full recovery. Multisystem Inflammatory Syndrome (MIS) is a new differential diagnosis of cardiac dysfunction in pediatric and adult patients. The lack of myocardial necrosis differentiates the disease from other viral myocarditis and offers an explanation for the fast response to immunomodulatory therapy and the favorable prognosis. The preceding SARS-CoV-2 infection might only have been mildly symptomatic or even asymptomatic.
Case Report: Extensive Temporal Bone Invasion in a Giant Vestibular Schwannoma
Authors: Fang Lyu, Jinlu Gan, Haijun Wang, Hongyang Zhao, Lei Wang, Fangcheng Zhang
Journal: Front Surg (2022)
Keywords: acoustic neuroma, gamma knife surgery, inflammation, microscopic surgery, temporal bone invasion, vestibular schwannoma
MeSH terms: Case Reports

Background:
Rare giant vestibular schwannomas (GVSs) invade the temporal bone extensively, which carries unique risks for surgery owing to their complicated relationship with adjacent structures, difficult dissection of the temporal bone, and high risk of complications. The underlying mechanism of this invasive behavior remains unknown.
Case description:
We report on a 28-year-old woman who presented with typical hearing loss and facial paralysis (House-Brackmann II). Magnetic resonance imaging exhibited a giant mass (∼5.0 cm) in the right cerebellopontine angle (CPA), petrous apex, and middle cranial fossa. Her primary diagnosis was GVS with petrous apex invasion. With the aid of presurgical imaging reconstruction and intraoperative facial nerve monitoring, we adopted a sequential therapeutic strategy, which included microsurgery for the CPA lesion followed by gamma knife radiosurgery (GKRS) for the petrous mass. During follow-up, stable tumor control was achieved with functional preservation of the facial nerve and no other complications. The postoperative immunohistochemical examination demonstrated dramatic intratumoral inflammation, which suggested its potential role in bony erosion. We reviewed the literature of large vestibular schwannoma with a petrous invasion and further discussed its treatment.
Conclusion:
Microsurgery remains the top therapeutic strategy for GVS. However, gross total resection with functional preservation of cranial nerves is challenging to achieve once the temporal bone is involved. In this case, we applied a planned and sequential approach of microsurgery and GKRS with a promising outcome, which highlighted this combinational strategy in this rare situation. In addition, pathological examination suggested that intratumoral inflammation might play a role in the bony erosion of GVS. Longer observation and more cases are needed to further investigate its molecular mechanism and treatment plan.
Primary Borderline Mucinous Testicular Tumor: A Case Report and Literature Review
Authors: Changjuan Hao, Chunsong Kang, Xiaoyan Kang, Zhuanzhuan Yu, Tingting Li, Jiping Xue
Journal: Front Oncol (2021)
Keywords: clinical characteristic, differential diagnosis, imaging characteristic, mucinous tumor, testis
MeSH terms: Case Reports

Primary mucinous tumors of the testis and paratestis are very rare, with only 29 reported cases detected in a PubMed search. The histopathological characteristics of primary testicular mucinous tumors are similar to their ovarian counterparts, and the diagnosis and naming criteria refer to the criteria for female ovarian mucinous tumors. However, the clinical and imaging features of primary testicular mucinous tumors are poorly understood, and they are thus frequently undiagnosed or misdiagnosed. We present the case of a patient with a primary testicular mucinous tumor. A 52-year-old man presented with a 1-year history of painless enlargement of the left scrotum. Ultrasound examination revealed a cystic mass in the left testis, with viscous fluid areas and calcified spots, irregular solid bulges on the cyst wall, and a small blood supply. Serum alpha-fetoprotein, β-human chorionic gonadotropin, lactate dehydrogenase, renal function, inflammatory markers, and routine urine and blood examinations were all normal. The patient underwent radical resection of the left testis. Postoperative pathology showed a multilocular cystic mass, with the inner wall of the sac lined with mucous columnar epithelial cells, some with mild nuclear atypia, and no interstitial infiltration. The pathological diagnosis was testicular mucinous tumor. Postoperative abdominal and pelvic computed tomography, colonoscopy, and gastroscopy showed no suspicious lesions. The final diagnosis was primary testicular borderline mucinous tumor. The patient underwent postoperative follow-up examinations once a year for 4 years. Serum tumor markers, scrotal ultrasound, abdominal and pelvic computed tomography scans, and colonoscopy and gastroscopy revealed no evidence of metastases or other primary adenocarcinoma. This case highlights the clinical and imaging characteristics of primary testicular mucinous tumors, which might aid their differential diagnosis.
Oral Rehabilitation Using Noninvasive Restorative Approach for Late Mixed Dentition of Preterm Birth Child with Amelogenesis Imperfecta
Authors: Abdulfatah Alazmah
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

Preterm birth children comprise about 6% of live births around the world. It is known that premature children exhibit oral anomalies that could affect the function and/or appearance of their dentition in addition to their medical needs. A diagnosis of amelogenesis imperfecta (AI) can present a challenge for both the patient and the treating clinician. This can be more complicated in the case of child treatment, where cooperation and some of the treatment modalities for adults can not be considered. Conventional management of such children is not possible due to the ongoing process of growth and development and the ability of the child to cope with the extensive and lengthy treatment procedure. This article highlights a minimally invasive method for managing AI using adhesive and full-coverage restoration that requires no tooth preparation; this allows the structural integrity of the teeth to be maintained, along with their vitality. As a result, the child will have teeth with better function and aesthetic, to improve eating, appearance, and self-confidence.
Partial vertebrectomy with spine shortening for old spondyloptosis at the thoracolumbar spine: a case series study and literature review
Authors: Nuo Xu, Ping Liu, Yijun Kang, Fei Chen
Journal: Front Surg (2023)
Keywords: complete fracture-dislocation, partial vertebrectomy, spinal shortening, spondyloptosis, thoracolumbar spine

Objective:
We aimed to report the surgical outcomes of serial cases and retrospectively analyze the value of partial vertebrectomy and spinal shortening in the reduction of old spondyloptosis at the thoracolumbar spine.
Methods:
From 2015 to 2021, eight cases of patients who received a spinal intervention of partial vertebrectomy and spinal shortening for thoracolumbar spondyloptosis over 3 weeks post-trauma were retrospectively summarized. Medical records and surgical outcomes were extracted for clinical safety and efficacy evaluation.
Results:
Acceptable reduction and immediate stabilization were achieved for all eight cases without causing iatrogenic damage to the viscera. The mean operation time was 3.7 h (range, 3.2-4.2 h) with a mean blood loss average of 1,081 ml (range, 900-1,300 ml). Postoperative stay in the spine department was an average of 11.4 days (range, 8-17 days), followed by an early rehab program. The mean visual analog scale (VAS) for low back pain decreased from 8.0 preoperatively to 1.4 at the last follow-up. The average follow-up period was 19.9 months. As for neurological function recovery, six patients with preoperative ASIA-A status remained unchanged throughout the follow-up period and improvement of one ASIA grade was noted in two patients. At the latest follow-up, sound interbody fusion as well as good alignment of the spinal column were confirmed radiologically in seven patients, while one patient encountered slight re-dislocation 3 months after surgery, but eventually achieved spinal fusion.
Conclusion:
Partial vertebrectomy and spine shortening via a posterior approach showed good efficacy and safety in the management of old spondyloptosis of the thoracolumbar spine, allowing for a one-step good reduction and spinal fusion for early rehabilitation.
The Largest Tubal Pregnancy: 14th Week
Authors: Amr Elmoheen, Waleed Salem, Mahmoud Eltawagny, Rehab Elmoheen, Khalid Bashir
Journal: Case Rep Obstet Gynecol (2020)
MeSH terms: Case Reports

Subsequent development and implantation of embryo outside the uterine lining are defined as an ectopic pregnancy. Ectopic pregnancies have a wide range of presentations, for example, acute hemoperitoneum to chronic ectopic pregnancy. The case presented is an unusual case of ectopic pregnancy with large hematosalpinx with classic symptoms. To the best of the authors' knowledge, this case is the largest intact tubal ectopic pregnancy reported ever in the 14th week of gestation. A 40-year-old patient presented to the emergency department with lower abdominal pain, mild dysuria, and loose motion. The patient's previous menstrual cycles were regular till four months ago, then started to be irregular, and she had no history of chronic diseases except repeated pelvic inflammatory diseases (PID). Clinically, the patient was hemodynamically stable. On palpation, the abdomen was tender, and cervical movements were not tender. BHCG in the blood came very high. The bedside point-of-care ultrasound (POCUS) showed free fluid in the abdomen and a sac in the left adnexa with a living fetus (visible heartbeats). The conventional ultrasound showed 14 weeks of an extrauterine gestational sac with visible early pregnancy. Differential diagnosis was either an abdominal pregnancy versus a complicated tubal pregnancy. The surgical pathology report confirmed the diagnosis of ectopic tubal pregnancy as the tube was dilated in the middle portion containing chorionic villi, decidual reaction, and the whole gestational sac consistent with the ectopic tubal pregnancy. The patient had a successful laparotomy with salpingectomy and hemostasis and did well after the operation. So, an intact ectopic tubal pregnancy may last until the 14th week of gestation.