OpenMed/multicare-articles huggingface dataset:
Posterior hemivertebra resection and reconstruction for the correction of old AO type B2.3 thoracic fracture kyphosis: A case report
Authors: Fanchao Meng, Xun Zhang, Tiantian Chen, Zhao Li, Yushi Fang, Wei Zhao, Jiaxing Xu
Journal: Front Surg (2022)
Keywords: hemivertebral, orthopedic, osteotomy, resection and reconstruction, thoracic fracture kyphosis
MeSH terms: Case Reports

Background:
Post-traumatic malunion is one of the main causes of kyphosis and usually has serious consequences. We report a case of kyphosis caused by an old AO type B2.3 thoracic fracture, which was corrected with posterior hemivertebra resection and reconstruction.
Case presentation:
A 41-year-old male was diagnosed with kyphosis caused by an old AO type B2.3 thoracic fracture. Preoperative examination and preparation were performed. His exam images showed a comminuted fracture in the left half of the T12 vertebral body, while chance-type fractures were seen in the right half of T12 vertebral body and its accessories. During the operation, posterior hemivertebra resection and reconstruction techniques were used to remove nearly half of the left vertebral body of the affected vertebra, preserve the right vertebral body and the facet joints of the affected vertebra, correct the kyphosis, and rebuild spinal stability. The patient's low back pain was completely relieved, and his thoracic kyphosis was corrected at the seventh post-operative day. CT reconstruction of the spine showed that the residual vertebrae healed well during his nine- and 18-month follow-ups. Continuous callus formation was observed inside and outside of the titanium cage at the reconstructed site, and there was no sign of subsidence of the titanium cage. The heights between the vertebrae were restored to within normal ranges and the physiological curvature of the thoracolumbar spine was achieved. The patient recovered well.
Conclusion:
This operation preserved the hemivertebral body and facet joints, and maintains intervertebral height and local stability, thus avoiding titanium cage collapse, titanium cage movement, and other complications. This surgical approach is ideal for treating complex thoracic vertebral kyphosis caused by old fractures, and is worth utilizing in the clinic.
Emerging evidence of genotype-phenotype associations of developmental and epileptic encephalopathy due to KCNC2 mutation: Identification of novel R405G
Authors: Sumei Wang, Yejing Yu, Xu Wang, Xiaolong Deng, Jiehui Ma, Zhisheng Liu, Weiyue Gu, Dan Sun
Journal: Front Mol Neurosci (2022)
Keywords: kcnc2, kv32, r405g, developmental and epileptic encephalopathy, potassium channels, whole-exome sequencing

Developmental and epileptic encephalopathies (DEEs) have high genetic heterogeneity, and DEE due to the potassium voltage-gated channel subfamily C member 2 (KCNC2) variant remains poorly understood, given the scarcity of related case studies. We report on two unrelated Chinese patients, an 11-year-old boy and a 5-year-old girl, diagnosed with global developmental delay (GDD), intellectual disability (ID), and focal impaired awareness seizure characterized by generalized spike and wave complexes on electroencephalogram (EEG) in the absence of significant brain lesions. Whole-exome sequencing (WES) and electrophysiological analysis were performed to detect genetic variants and evaluate functional changes of the mutant KCNC2, respectively. Importantly, we identified a novel gain-of-function KCNC2 variant, R405G, in both patients. Previously reported variants, V471L, R351K, T437A, and T437N, and novel R405G were found in multiple unrelated patients with DEE, showing consistent genotype-phenotype associations. These findings emphasize that the KCNC2 gene is causative for DEE and facilitates treatment and prognosis in patients with DEE due to KCNC2 mutations.
Vibrio albensis bacteremia: A case report and systematic review
Authors: Ashraf O E Ahmed, Gawahir A Ali, Sara S Hassen, Wael Goravey
Journal: IDCases (2022)
Keywords: bacteremia, non-vibrio cholerae, vibrio albensis

Vibrio species are gram-negative rods usually known to cause gastroenteritis and infrequently extraintestinal infections in humans. V. cholerae are classically associated with cholera epidemics, particularly serogroup O1 and serogroup O139. However, Vibrio albensis, a non-O1/ non-O-139 serogroup is rarely implicated in human infections. Thus, there is a paucity of data available on the pathogenic profile of V. albensis infections in humans and more research is needed to further delineate the clinical course and management. To fill this gap in the literature, we present the successful management of V. albensis bacteremia in a 64-year-old patient, and we conducted a systematic review of V. albensis infections reported to date, aiming to explore the clinical presentation, course, and management of V. albensis infections.
Malignant PEComa: a case report with emphasis on clinical and morphological criteria
Authors: Federico Selvaggi, Domenico Risio, Roberta Claudi, Roberta Cianci, Domenico Angelucci, Daniela Pulcini, Alberto D'Aulerio, Margherita Legnini, Roberto Cotellese, Paolo Innocenti
Journal: BMC Surg (2011)
MeSH terms: Perivascular Epithelioid Cell Neoplasms / diagnosis, Case Reports, Adult, Humans, Male, Perivascular Epithelioid Cell Neoplasms / surgery

Background:
Malignant perivascular epitheliod cell tumor (PEComa) is a very rare entity composed of distinctive perivascular epitheliod cells with variable immunoreactivity for melanocytic and muscle markers. At present this neoplasm does not have a known normal cellular counterpart and the natural history is often unpredictable. Up to now, few cases of PEComa have been described and treatment modalities are still controversial, particularly in advanced conditions.
Case presentation:
We handled the case of a 42-year-old man with unresectable PEComa of the abdomen. A 7 cm hepatic hypodense lesion between segment V and VIII of the liver and diffuse intraperitoneal nodules of 0,3-3,5 cm along the right subcapsular hepatic region, were documented by a CT scan. Radiological images showed abnormal lymph nodes of the right internal mammary chain and anterior mediastinum. The patient underwent an explorative laparotomy for uncontrolled intraabdominal hemorrhage without a well-defined preoperative tumor diagnosis. At surgery, multiple lobulated nodules containing hemorrhagic fluid on the liver surface, peritoneum and omentum were confirmed. The procedure had a palliative intent and consisted of hemostasis, hematomas evacuation and omentectomy. The diagnosis of PEComa was made after surgery on the basis of morphological and immunohistochemical criteria. Radiological and intra operative findings suggest that the mass has an hepatic origin with diffuse involvement of hepatic capsule and suspensory ligaments. The patient received medical support care with blood and plasma transfusions. In our experience, PEComa was clinically malignant, leading to a fatal outcome 25 days after hospital admission of patient.
Conclusions:
Here we report and discuss the peculiar clinical, radiological and morphological presentation of unresectable PEComa. Although in the majority of the reported series, PEComas show a more better prognosis, our case presents with a particular aggressive biological behaviour. The importance of a correct preoperative diagnosis, the need for more effective targeted therapies based on tumor molecular knowledge and evidence-based clinical studies are emphasized together with a revision of the concerning scientific literature.
Accessory spinal nerve damage during a cervical lymph node biopsy: case report
Authors: Hafid Arabi, Aziz Ahizoune, Rachid Benchanna, Nabil Abida, Salah Belasri, Badr Slioui, Amine Benjelloun
Journal: Pan Afr Med J (2020)
Keywords: accessory spinal nerve, shoulder elevation deficit, trapezius denervation
MeSH terms: Accessory Nerve Injuries / etiology, Lymph Nodes / pathology, Case Reports, Accessory Nerve / pathology, Accessory Nerve Diseases / diagnosis, Accessory Nerve Diseases / etiology, Accessory Nerve Injuries / diagnosis, Adult, Biopsy / adverse effects, Humans, Iatrogenic Disease, Male, Muscular Atrophy, Spinal / diagnosis, Muscular Atrophy, Spinal / etiology, Neck, Tuberculosis, Lymph Node / diagnosis, Tuberculosis, Lymph Node / pathology

The lesion of the accessory spinal nerve is often of iatrogenic origin. We report the case of an injury after a right jugulocarotid lymph node biopsy. A 30-year-old patient was referred for the treatment of right cervical lymphadenopathy suspected of tuberculosis. After the intervention and confirmation of tuberculosis diagnosis, the patient presented a functional impotence of the right shoulder and swarming of the right hand. The clinical examination found an active limitation of the shoulder, and a wasting of the upper bundle of the right trapezius muscle and the sternocleidomastoid. The EMG showed axonotmesis of the accessory spinal nerve and the MRI an amyotrophy of the trapezius with denervation edema. A simple rehabilitation has been scheduled. Damage of the accessory spinal nerve most often occurs after local surgery. EMG is essential for diagnosis. Rehabilitation is the first therapeutic option. Surgery can be considered if it fails. The surgeons must consider the protection of the accessory spinal nerve in case of cervical lymph node surgery.
Case report: A patient with mitochondrial neurogastrointestinal encephalomyopathy and chronic intestinal failure
Authors: Ana Barisic, Dina Ljubas Kelecic, Darija Vranesic Bender, Irena Karas, Marko Brinar, Vladimir Miletic, Zeljko Krznaric
Journal: Front Nutr (2022)
Keywords: home parenteral nutrition, intestinal failure, malnutrition, mitochondrial neurogastrointestinal encephalomyopathy, nutrition team
MeSH terms: Case Reports

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare disorder commonly diagnosed in later disease stages when it prominently manifests as malnutrition. We report on a female patient diagnosed with MNGIE at the age of 36. She was severely malnourished due to loss of resorptive surface after several surgical procedures, gastrointestinal dysmotility, and small intestinal bacterial overgrowth. Therefore, early and aggressive total parenteral nutrition was introduced. Although no reports have shown that nutritional support can modify the clinical outcome, this case suggests that adequate nutritional support, particularly parenteral nutrition, supervised by an experienced nutritional team, may prolong the lifespan of patients with MNGIE.
Development and Resolution of Secondary Adrenal Insufficiency after an Intra-Articular Steroid Injection
Authors: Jia Wei Tan, Sachin K Majumdar
Journal: Case Rep Endocrinol (2022)
MeSH terms: Case Reports

Corticosteroid injections are commonly indicated in inflammatory conditions involving the soft tissues, tendon sheaths, bursae, and joints. Local corticosteroids carry a lower risk of complications than systemic corticosteroid but may be systemically absorbed and subsequently suppress the hypothalamic-pituitary-adrenal (HPA) axis. This can cause secondary adrenal insufficiency (SAI) as well as iatrogenic Cushing's syndrome. We report a 78-year-old female who presented with nonspecific gastrointestinal symptoms after a recent intra-articular steroid injection in her shoulder. She had hyponatremia, low morning cortisol, and failed to respond to high-dose cosyntropin. Further workup revealed the underlying cause to be SAI. Follow-up testing revealed a recovery of HPA responsiveness within 2 weeks of her initial diagnosis. Conclusion. Our case highlights how the hypothalamic-pituitary axis (HPA) can be suppressed with intra-articular steroids. The threshold to test corticosteroid users for adrenal insufficiency should be low in clinical practice, especially for those patients with nonspecific symptoms after steroid injections. Once diagnosed, temporary treatment with steroids may be required.
Halo Nevi Are Not Trivial: About 2 Young Patients of Regressed Primary Melanoma That Simulates Halo Nevi
Authors: S De Schrijver, I Theate, O Vanhooteghem
Journal: Case Rep Dermatol Med (2021)
MeSH terms: Case Reports

Background:
Halo nevi are often considered benign, and the possibility of malignancy is not always clear to practitioners. We present two case reports suggesting that a halo nevus appearance can be seen in melanoma, even in young adults. A literature search for halo nevi revealing melanoma shows that this is a very rare condition. Case presentation. This report of two young patients indicates the importance of obtaining a detailed history to detect warning signs such as itching, pain, spontaneous bleeding, and previous alterations according to the patient, including a previously totally black colour in an already fully regressed melanoma.
Conclusions:
The risk of a halo nevus being malignant is higher if there is only one unique halo nevus and no personal or familial history of vitiligo. We postulate that a regressing atypical nevus or a regressing melanoma may be induced by an immunologic reaction as halo nevus type of clinical picture.
A rare case of right heart failure with the necessity for veno-arterial extracorporeal membrane oxygenation following pulmonary vein stenosis after radiofrequency ablation for atrial fibrillation
Authors: Sabrina Kopp, Marie-Kristin Tilch, Ingo Sagoschen, Joachim Kaes, Malte Kuniss, Thomas Neumann, Yang Yang, Katharina Schnitzler, Kai-Helge Schmidt, Thomas Rostock, Thomas Münzel, Stavros Konstantinides, Johannes Wild, Lukas Hobohm
Journal: Pulm Circ (2023)
Keywords: catheter ablation, extracorporeal membrane oxygenation, pulmonary hypertension, pulmonary vein stenosis, right heart failure
MeSH terms: Case Reports

Pulmonary vein stenosis (PVS) after radiofrequency energy-mediated percutaneous pulmonary vein isolation as a treatment option for atrial fibrillation is a serious complication and the prevalence in historical reports varies between 0% and 42%. Symptoms of PVS are nonspecific and can include general symptoms such as dyspnea, cough, recurrent pneumonia, and chest pain. Pathophysiologically it increases the postcapillary pressure in the pulmonary circuit and may result in pulmonary hypertension (PH). Misdiagnosis and delayed treatment are common. We here report a case of a 59-year-old female with a history of pulmonary vein ablation followed by progressive dyspnea (New York Heart Association IV), right heart failure, CPR, and the need for extracorporeal membrane oxygenation (ECMO). Further treatment strategy includes pulmonary vein dilatation and stenting of both the left superior pulmonary vein and left inferior pulmonary vein, as well as balloon dilatation of RIPV under temporary ECMO support. Symptomatic, severe PVS is a rare complication after catheter ablation of atrial fibrillation. PVS can result in life-threatening complications such as PH with acute right heart failure. Early diagnosis is crucial but challenging. Mechanical cardiopulmonary support by veno-arterial ECMO for bridging to angioplasty could be a lifesaving option.
Case Report: Colchicine Toxicokinetic Analysis in a Poisoned Child Requiring Extracorporeal Life Support
Authors: Maria Pérez Marín, Sylvain Prod'hom, Suzanne Francesca de Villiers, Thomas Ferry, Vivianne Amiet, Julia Natterer, Maria-Helena Perez, Thierry Buclin, Haithem Chtioui, David Longchamp
Journal: Front Pediatr (2021)
Keywords: ecmo, case report, colchicine poisoning, pediatric, toxicokinetics
MeSH terms: Case Reports

Colchicine poisoning is associated with a poor prognosis, especially when leading to shock and multi-organ failure, and management is limited to supportive care, including multiple-dose activated charcoal. At therapeutic concentrations, colchicine elimination occurs mainly through hepatic metabolism and involves an enterohepatic circulation, with a small contribution of renal elimination (10-30%). Colchicine toxicokinetics is however rarely described, especially in children. We present the case of a 4-year-old patient who survived a severe iatrogenic colchicine intoxication with a dose of 0.5 mg/kg. She developed multi-organ failure and shock, but recovered after receiving aggressive resuscitation, including extracorporeal life support. Close monitoring of colchicine blood levels showed a plateau for 6 days, indicating impeded elimination resulting from liver failure. We observed no significant clearance from renal replacement therapy, nor activated charcoal, during this period. Extracorporeal life support may play a supportive role in the management of severe colchicine poisoning. However, extracorporeal techniques do not seem to improve colchicine elimination.
Consequences of inadvertent intravitreal Mitomycin C injection
Authors: Ahmad Mirshahi, Alireza Lashay, Mohammad Reza Mehrabi Bahar, Mojtaba Abrishami
Journal: Int J Retina Vitreous (2018)
Keywords: electroretinography, intravitreal injection, mitomycin c, retinal toxicity
MeSH terms: Case Reports

Background:
Mitomycin C (MMC) as an alkylating agent is miscellaneous an antineoplastic, antibiotic and ophthalmic agent. Here we aim to report a case of inadvertent intravitreal MMC injection instead of Avastin in case of diabetic macular edema.
Case presentation:
A 53 years old woman was planned to receive intravitreal Avastin injection, but accidentally, 0.05 ml of MMC 0.2% was injected. Best corrected visual acuity (BCVA) was 20/160 before injection. After 2 days, patient was referred to a tertiary referral eye center. BCVA was hand motion at presentation. Intraocular pressure was 4 mmHg. In slit lamp exams, conjunctival injection, corneal edema, Descemet fold, anterior chamber and anterior vitreous cells were presented. Pars plana vitrectomy with peripheral vitreous shaving and silicone oil tamponade was performed. Electroretinography showed undetectable responses. Ultrasound biomicroscopy showed ciliary body shortening and detachment. Optical coherent tomography showed diffuse retinal edema the day after surgery, subretinal fluid pockets in 2 weeks, and atrophy with undetectable and intertwined layers 2 months later. Gradually, like the retina, iris became atrophic and pigments were dispersed diffusely over the lens and endothelium.
Conclusion:
MMC is showed to be severely toxic to intraocular tissues. In our case, iris and ciliary body became atrophic. Ciliary body detachment induced hypotony. Moreover, MMC induces retinal necrosis and atrophy. Visual outcome is profoundly poor.
Congenital Microphthalmia with Intraorbital Cyst: A Rare Case Report
Authors: Bishow Raj Timalsina, Gulshan Bahadur Shrestha, Madhu Thapa
Journal: Case Rep Ophthalmol Med (2019)
MeSH terms: Case Reports

Microphthalmia is considered to be the most common congenital malformation of the eye after congenital cataract. However, its association with intraorbital cyst is considered to be very rare. Most of the lesions are still misdiagnosed as orbital tumor and teratomas as there is a general paucity of data reported in literature. Herein, we report a rare case of congenital microphthalmia with intraorbital cyst in an eight-month-old male patient.
Iatrogenic Leptomeningeal Carcinomatosis Following Craniotomy for Resection of Metastatic Serous Ovarian Carcinoma: A Systematic Literature Review and Case Report
Authors: Brittany M Stopa, Joshua A Cuoco, Srijan Adhikari, Douglas J Grider, Cara M Rogers, Eric A Marvin
Journal: Front Surg (2022)
Keywords: case report, craniotomy, leptomeningeal carcinomatosis, literature review, metastases, neoplastic meningitis, ovarian cancer
MeSH terms: Case Reports

Metastasis of ovarian carcinoma to the central nervous system occurs in <2% of cases and classically localizes within the brain parenchyma. Moreover, leptomeningeal spread of these tumors is an exceedingly rare phenomenon. Here, we conduct a systematic review of the current literature on the natural history, treatment options, and proposed pathogenic mechanisms of leptomeningeal carcinomatosis in ovarian carcinoma. We also report a case of a 67-year-old female with stage IV metastatic ovarian serous carcinoma initially confined to the peritoneal cavity with a stable disease burden over the course of three years. Follow-up imaging demonstrated an intracranial lesion, which was resected via craniotomy, and pathology was consistent with the original diagnosis. Three months after surgery, she developed rapidly progressive dizziness, generalized weakness, fatigue, and ataxia. Repeat MRI demonstrated interval development of extensive and diffusely enhancing dural nodularity, numerous avidly enhancing supratentorial and infratentorial lesions, enhancement of the bilateral trigeminal nerves, internal auditory canals, and exit wound from the surgical site into the posterior aspect of the right-sided neck musculature consistent with diffuse leptomeningeal dissemination. The present case highlights that leptomeningeal dissemination of ovarian carcinoma is a potential yet rare consequence following surgical resection of an ovarian parenchymal metastasis. Progressive clinical symptomatology that develops postoperatively in this patient population should prompt urgent workup to rule out leptomeningeal disease and an expedited radiation oncology consultation if identified.
Adjusting for spatial variation when assessing individual-level risk: A case-study in the epidemiology of snake-bite in Sri Lanka
Authors: Dileepa Senajith Ediriweera, Anuradhani Kasthuriratne, Arunasalam Pathmeswaran, Nipul Kithsiri Gunawardene, Shaluka Francis Jayamanne, Kris Murray, Takuya Iwamura, David Griffith Lalloo, Hithanadura Janaka de Silva, Peter John Diggle
Journal: PLoS One (2019)
MeSH terms: Geography, Research Support, Non-U.S. Gov't, Adolescent, Adult, Ethnicity, Female, Humans, Incidence, Male, Middle Aged, Models, Theoretical, Probability, Risk Assessment, Risk Factors, Snake Bites / epidemiology, Sri Lanka / epidemiology, Young Adult

Background:
Health outcomes and causality are usually assessed with individual level sociodemographic variables. Studies that consider only individual-level variables can suffer from residual confounding. This can result in individual variables that are unrelated to risk behaving as proxies for uncaptured information. There is a scarcity of literature on risk factors for snakebite. In this study, we evaluate the individual-level risk factors of snakebite in Sri Lanka and highlight the impact of spatial confounding on determining the individual-level risk effects.
Methods:
Data was obtained from the National Snakebite Survey of Sri Lanka. This was an Island-wide community-based survey. The survey sampled 165,665 individuals from all 25 districts of the country. We used generalized linear models to identify individual-level factors that contribute to an individual's risk of experiencing a snakebite event. We fitted separate models to assess risk factors with and without considering spatial variation in snakebite incidence in the country.
Results:
Both spatially adjusted and non-adjusted models revealed that middle-aged people, males, field workers and individuals with low level of education have high risk of snakebites. The model without spatial adjustment showed an interaction between ethnicity and income levels. When the model included a spatial adjustment for the overall snakebite incidence, this interaction disappeared and income level appeared as an independent risk factor. Both models showed similar effect sizes for gender and age. HEmployment and education showed lower effect sizes in the spatially adjusted model.
Conclusions:
Both individual-level characteristics and local snakebite incidence are important to determine snakebite risk at a given location. Individual level variables could act as proxies for underling residual spatial variation when environmental information is not considered. This can lead to misinterpretation of risk factors and biased estimates of effect sizes. Both individual-level and environmental variables are important in assessing causality in epidemiological studies.