OpenMed/multicare-articles huggingface dataset:
Genetic Susceptibility Is One of the Determinants for Severe Fever with Thrombocytopenia Syndrome Virus Infection and Fatal Outcome: An Epidemiological Investigation
Authors: Jimin Sun, Yuming Tang, Feng Ling, Yue Chang, Xiaohong Ye, Wen Shi, Lei Zhang, Zhiping Chen, Haijiang Lin, Zaiping Qiu, Yanjun Zhang, Rong Zhang, Haiyan Mao, Enfu Chen, Junfen Lin, Jianmin Jiang, Shichang Xia, Zhenyu Gong
Journal: PLoS One (2015)
MeSH terms: Phlebotomus Fever / genetics, Phlebotomus Fever / mortality, Phlebovirus, Case Reports, Research Support, Non-U.S. Gov't, Aged, Bunyaviridae Infections / epidemiology, Bunyaviridae Infections / genetics, Bunyaviridae Infections / mortality, Cluster Analysis, Fatal Outcome, Female, Genetic Predisposition to Disease, Humans, Middle Aged, Phlebotomus Fever / epidemiology, Phylogeny, Siblings

Severe fever with thrombocytopenia syndrome (SFTS) is an emerging infectious disease in China and case-fatality rate of SFTS is very high (approximately 10%). However, genetic susceptibility for SFTS virus (SFTSV) infection and fatal outcome of SFTSV infection in humans are unclear. In this study, we investigated the clinical, laboratory and epidemiological features of SFTS in a cluster of three sisters who died of SFTSV infection between late April and mid-May 2014. Before disease onset, two of the sisters (Case A and case B) had common exposure history for ticks by working together in a field to pick tea leaves from April 8 to April 12. The third sister (Case C) did not live or work together with case A and B, but had ticks in her living environment. SFTSV RNA sequences were amplified from three cases were not identical, suggesting that the three sisters were most likely infected with SFTSV through tick bite rather than through person-to-person transmission of SFTSV. The sequence of SFTSV from case C was identical to SFTSV sequences from 3 groups of ticks collected around the residential area of case C. Seroprevalence of SFTSV IgG antibody among healthy population in the area where the patients resided was 4.05% (3/74). The majority of SFTSV infections were mild cases and all three sisters died of SFTSV infection suggested that they were highly susceptible to SFTSV. Our findings indicated that genetic susceptibility was a risk factor for SFTSV infection and fatal outcome.
Does Lithium Deserve a Place in the Treatment Against COVID-19? A Preliminary Observational Study in Six Patients, Case Report
Authors: Carlos Spuch, Marta López-García, Tania Rivera-Baltanás, Daniela Rodrígues-Amorím, José M Olivares
Journal: Front Pharmacol (2020)
Keywords: covid-19, sars-cov-2, case report, inflammation, lithium carbonate
MeSH terms: Case Reports

Lithium has shown the capacity to: a) inhibit the replication of several types of viruses, some of which are similar to the SARS-CoV-2 virus, b) increase the immune response by reducing lymphopenia, and c) reduce inflammation by preventing or reducing the cytokine storm. In the present study, we have treated six patients with severe COVID-19 infection with lithium carbonate. We found that lithium carbonate significantly reduced plasma reactive C-Protein levels, increased lymphocyte numbers and decreased the neutrophil-lymphocyte ratio, improving both inflammatory activity and the immune response in these patients. We propose that lithium carbonate may deserve a place in the treatment against COVID-19.
Case report: Spinal cord stimulation in the treatment of pediatric erythromelalgia
Authors: Lei Zuo, Ai Su, Ying Shi, Nan Li, Shiyu Chen, XiaoQiu Yang
Journal: Front Neurol (2023)
Keywords: case report, multidisciplinary approach, neuromodulation, pediatric erythromelalgia, spinal cord stimulation
MeSH terms: Case Reports

Introduction:
In children, erythromelalgia is a rare chronic pain syndrome characterized by erythema, severe burning pain, and itching of affected feet. Unfortunately, there is no definitive therapy available currently.
Case report:
Here, we report a case of primary erythromelalgia and the treatment response in a 10-year-old boy, whose genetic findings for mutations in the SCN9A gene were positive and skin biopsy results were diagnosed as small fiber neuropathy, while he has suffered from excruciating burning pain, itching, erythema, and recurrent infections over the past 3 years. He did not respond well to conventional treatment, and the only way to receive minimal relief was to immerse his feet in ice water. After a successful trial of spinal cord stimulation (SCS), the implantable pulse generator (IPG) was successfully implanted without complications, and it proved partial response to therapy.
Conclusion:
There is no specific, efficient treatment for pediatric erythromelalgia currently, but this case demonstrates neuromodulation serves as part of the multimodal regimen to treat pediatric erythromelalgia.
Angiosarcoma of the retroperitoneum: report on a patient treated with sunitinib
Authors: Changhoon Yoo, Jeong-Eun Kim, Shin-Kyo Yoon, Song Cheol Kim, Jin-Hee Ahn, Tae Won Kim, Cheolwon Suh, Jae-Lyun Lee
Journal: Sarcoma (2009)
MeSH terms: Case Reports

A 52 year-old woman presented with an incidentally detected retroperitoneal angiosarcoma and multiple hepatic metastases. After chemotherapy with weekly paclitaxel and doxorubicin, angiosarcoma had progressed rapidly. Because few chemotherapeutic options were available for her, sunitinib (37.5 mg/day, daily) as a salvage regimen was administered. Although sunitinib was interrupted after two weeks due to hematologic abnormalities, some metastatic nodules were regressed. Therefore, sunitinib was recommenced at a reduced dose (25 mg/day, daily). Serial computed tomography scans showed variable response in each tumor, however, sunitinib at least delayed tumor progression, compared to previous chemotherapy. With this case report, we suggest sunitinib may be effective against angiosarcomas. When sunitinib is administered to patients with angiosarcomas, hematologic abnormalities should be monitored frequently as severe hematologic toxicity may be caused either by sunitinib per se or angiosarcoma.
Extraskeletal myxoid chondrosarcoma with massive pulmonary metastases
Authors: Luca Paoluzzi, Munir Ghesani
Journal: Clin Sarcoma Res (2018)
Keywords: extraskeletal myxoid chondrosarcoma, nr4a3, pazopanib, sarcoma
MeSH terms: Case Reports

Background:
Extraskeletal myxoid chondrosarcoma (EMC) is a rare malignant mesenchymal neoplasm of uncertain differentiation characterized by rearrangements of the NR4A3 gene. EMC often affects adults around the age of 50 and arise in the deep tissues of the proximal extremities and limb girdles. EMC is characterized by indolent growth rate but strong tendency to local recurrence and metastatic spread. No systemic treatment is specifically approved by the FDA for this disease and surgery has been traditionally the only potentially curative strategy.
Case presentation:
A 41-year-old Caucasian woman originally presented with a 14.8 cm left thigh mass. She was managed with wide local resection but after 2 years she developed recurrent disease in the pelvis and in the lungs; the lung involvement was characterized by innumerable nodules without any significant respiratory symptoms. After failing three clinical trials, she experienced prolonged disease control while on treatment with the tyrosine kinase inhibitor (TKI) pazopanib and radiation therapy delivered to the pelvic lesion. Dose reduction of pazopanib due to severe diarrhea was followed by rapid disease progression in the pelvis requiring vascular stenting; increase in tumor growth after discontinuation of a TKI has been described in other malignancies and is a possibility in this specific patient.
Conclusion:
While surgical management of EMC with or without radiation therapy is still the preferable approach when feasible, small series support the use of tyrosine kinase inhibitors and possible new immunotherapies in selected patients. Basket trials focusing on diseases with unique genomic features such as EMC will hopefully provide a better understanding of new options for care.
"Hidden" and Diverse Long-Term Impacts of Exposure to War and Violence
Authors: Boris Drožđek, Jan Rodenburg, Agnes Moyene-Jansen
Journal: Front Psychiatry (2020)
Keywords: diagnosis, long term, posttraumatic stress disorder, resilience, stress, trauma, violence, war

Nowadays, the PTSD diagnosis is often a prerequisite for the survivor's access to specialized treatment services and for obtaining legal recognition or financial compensation when exposed to violence. However, some survivors do not meet all necessary criteria for the PTSD diagnosis, particularly not in the long term. Therefore, they run the risk of being misdiagnosed, inadequately helped or undertreated, and may remain legally unrecognized and unprotected. In this article the "hidden" long-term impacts of exposure to war and violence, beyond the PTSD diagnosis, are presented, discussed, and illustrated with case presentations. They include dissociative states, attachment problems, personality changes, guilt, shame, rage, identity issues, moral injury, substances abuse, damaged core beliefs, and bodily sensations linked to stress activation. These phenomena are not persistent, but fluctuate over the survivor's life trajectories. Moreover, the "hidden" impacts are framed within theoretical models for understanding long-term impacts of exposure to violence. The models help us grasp the dynamics of interactions between resilience, psychological damage, context and time. These interactions are non linear, and contingently result in development of psychopathological phenomena when reaching a threshold during a process of accumulating potentially traumatic experiences over a survivors' lifetime. Understanding psychological impacts of exposure to violence as a spectrum of interchangeable phenomena over a lifetime, and learning to recognize the "hidden" manifestations of psychological trauma will help to improve mental and legal assistance to the survivors both on a short and long term.
A Rare Culprit of Spontaneous Abortion, Latent Tuberculosis Complicated by Disseminated Peritoneal TB
Authors: Christoph Sossou, Chaitanya Pal, Jose R Bustillo
Journal: Case Rep Infect Dis (2018)
MeSH terms: Case Reports

This is a case of a 38-year-old female with latent TB complicated by disseminated peritoneal TB with associated spontaneous abortion, who was initially thought to have an ovarian neoplasm, prompting extensive workup. Laparoscopy with biopsy later confirmed the patient's condition; she was initiated on the appropriate therapy and had a full recovery.
Jejunal multiple perforations for combined abdominal typhoid fever and miliary peritoneal tuberculosis
Authors: Michele Grieco, Giorgia Polti, Lara Lambiase, Diletta Cassini
Journal: Pan Afr Med J (2019)
Keywords: typhoid fever, abdominal tuberculosis, tuberculosis, typhoid intestinal perforation
MeSH terms: Intestinal Perforation / diagnosis, Peritonitis, Tuberculous / diagnosis, Tuberculosis, Miliary / diagnosis, Typhoid Fever / diagnosis, Case Reports, Abdomen, Acute / etiology, Benin, Child, Preschool, Female, Humans, Intestinal Perforation / etiology, Intestinal Perforation / surgery, Jejunum / pathology, Laparotomy / methods, Peritonitis, Tuberculous / complications, Tuberculosis, Miliary / complications, Typhoid Fever / complications

Typhoid fever and tuberculosis, considered rare diseases in western countries, is still considered a notable problem of health issue in developing countries. The gastrointestinal manifestations of typhoid fever are the most common and the typhoid intestinal perforation (TIP) is considered the most dangerous complication. Abdominal localization of tuberculosis is the 6th most frequent site for extra pulmonary involvement, it can involve any part of the digestive system, including peritoneum, causing miliary peritoneal tuberculosis (MPT). This is the case report of a 4 years old girl with multiple jejunal perforations in a setting of contemporary miliary peritoneal tuberculosis and typhoid fever occurred in "Hopital Saint Jean de Dieu" in Tanguietà, north of Benin. The patient was admitted in the emergency department with an acute abdomen and suspect of intestinal perforation, in very bad clinical conditions, underwent emergency laparotomy. The finding was a multiple perforations of the jejunum in a setting of combined abdominal typhoid fever and miliary peritoneal tuberculosis. Typhoid intestinal perforations and peritoneal tuberculosis are a very rare cause of non-traumatic peritonitis in western country, but still common in developing country. Considering the modern migratory flux and the diffusion of volunteer missions all around the world, the western surgeon should know this pathological entities, and the best treatments available, well known by surgeons with experience of working in developing countries. The combination of both TIP and MPT in the same patient, is a very rare finding which can worsen the outcome of the patient itself.
Administration of anesthesia in a patient with allgrove syndrome
Authors: Ayse B Ozer, Omer L Erhan, Cevdet Sumer, Ozden Yildizhan
Journal: Case Rep Anesthesiol (2012)
MeSH terms: Case Reports

The aim of the present paper is to report the anesthesia administration to a patient who was planned to undergo Heller myotomy for achalasia. There wasnot property in the patient whom allgrove syndrome was excepted any steroid treatment in preoperative period. The night before the operation 18 mg of prednisolone was administered intravenously. Induction of anesthesia was performed with thiopental sodium, vecuronium and fentanyl and the patient received endotracheal intubation. Eyes were taped closed and protected with ointment during surgery. Maintenance of anesthesia was achieved with 2% sevoflurane concentration in 50% O(2)-50% N(2)O. 25 mg of prednisolone was infused preoperatively, and intervention with insulin treatment was initiated when blood glucose level rose to 18 mmol/L at 2 hours. Safe anesthesia can be achieved by observing the preoperative development of tracheal aspiration, adrenal insufficiency and, autonomic dysfunction carefully and maintaining eye protection.
Treatment of endoscopic ultrasound-guided coil deployment for isolated gastric varices using 0.035-inch hydrocoil: Experience of three cases
Authors: Kazunori Nagashima, Ken Kashima, Yasuhito Kunogi, Fumi Sakuma, Koh Fukushi, Akira Yamamiya, Yoko Abe, Keiichi Tominaga, Makoto Iijima, Kenichi Goda, Rafael Romero-Castro, Atsushi Irisawa
Journal: DEN Open (2023)
Keywords: eus‐coiling, eus‐guided coil deployment, hydrocoil, interventional ultrasound, isolated gastric varices
MeSH terms: Case Reports

Endoscopic ultrasound (EUS)-guided coil deployment (EUS-coiling) has been newly developed for treating isolated gastric varices (iGV). This report describes three cases of EUS-coiling for iGV using a 0.035-inch hydrocoil (Azur; Terumo Corp., Tokyo, Japan). When used for EUS-coiling, this hydrocoil provides the following benefits: Its electrically detachable system allows pull back. It has smooth and dense deployment. Moreover, it has a strong blood-flow blocking effect because of its long length and large diameter with internal swelling functions of the hydrogel. Technical success of coiling was achieved in all cases. After coiling, additional treatments such as cyanoacrylate and sclerosant injection were performed as deemed appropriate. All iGVs were obliterated successfully. No adverse event occurred during the procedure or during the mean follow-up of six months. Our findings indicate that this 0.035-inch hydrocoil can be used to treat iGV safely and effectively.
Discordant renal progression of Fabry disease in male monozygotic twins: a case report
Authors: Do-Yun Lee, Jun-Yeong Jeong, Seung-Eun Lee, Jae-Hun Lee, Ju-Young Moon, Su Woong Jung, Sang-Ho Lee, Yang Gyun Kim
Journal: Front Genet (2023)
Keywords: fabry disease, discordant renal progression, epigenetics, genotype-phenotype discordance, male monozygotic twins
MeSH terms: Case Reports

Background: Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by mutations in the GLA gene that encodes α-galactosidase A (α-GAL). Clinical phenotypes tend to vary in monozygotic female twins because mutations are located on the X-chromosome, whereas similar phenotypes are found in male monozygotic twins. Here we report the case of male monozygotic twins with FD presenting with distinguishable renal phenotypes. Case: A 49-year-old male patient who visited the hospital with proteinuria 14 years prior was readmitted for the same issue. His monozygotic twin brother had started hemodialysis 6 months prior due to renal failure of unknown origin. The patient's renal function was within the normal range, while his spot urine protein-to-creatinine ratio was 557 mg/g. Echocardiography revealed left ventricular hypertrophy (LVH). The findings of a renal biopsy were consistent with FD. Genetic testing identified a c.656T>C mutation in the GLA gene, and α-GAL activity was significantly decreased. Genetic screening of his family clarified that his mother, older sister, twin brother, and his daughter had the same genetic mutations. The patient received enzyme replacement therapy 34 times. Subsequently, migalastat was initiated that continues today. Renal function and proteinuria remain stable, and the LVH has mildly improved. Conclusion: This is the first case of male monozygotic twins expressing different progressions of FD. Our findings demonstrate the possibility that environmental or epigenetic factors may critically influence genotype-phenotype discordance.
Teacher Scaffolding of Social and Intellectual Collaboration in Small Groups: A Comparative Case Study
Authors: Elizabeth Kraatz, Manisha Nagpal, Tzu-Jung Lin, Ming-Yi Hsieh, Seung Yon Ha, Saetbyul Kim, Sangin Shin
Journal: Front Psychol (2020)
Keywords: collaborative discussion, idea building, participatory equity, relational equity, teacher scaffolding

This comparative case study features two small groups of students engaging in collaborative dialog about social issues. Based on social constructivist theories, the two groups were compared across three major components of the small groups system: social dynamics, intellectual collaboration, and teacher scaffolding. Our goal was to holistically analyze these small group processes to understand why some small groups were highly successful while others were not, even within the same intervention and with the same teacher. Successful groups were those in which all students were able to access the conversational floor, many ideas were considered, students were able to share ideas and discuss collaboratively, and students were able to raise multiple forms of social reasoning to support and explain ideas. Change in social reasoning essay scores prior to and after the intervention were also considered as evidence of group success. Results show that teacher scaffolding and existing student processes served to amplify one another reciprocally. The teacher heightened productive social norms when they were present, which then served to encourage productive intellectual collaboration. However, when productive group norms were not present, the teacher took increasing control over the group, which further hampered productive social and intellectual interactions.
Premature menarche associated with primary hypothyroidism in a 5.5-year-old girl
Authors: Dhrubajyoti Sharma, Devi Dayal, Anju Gupta, Akshay Saxena
Journal: Case Rep Endocrinol (2011)
MeSH terms: Case Reports

Children with hypothyroidism generally have delayed pubertal development. Rare association with precocious puberty may occur especially in long standing untreated patients. The cardinal features of hypothyroidism induced pseudo precocious pubertal development include thelarche, galactorrhea and menarche. Other characteristics features are an absence of sexual hair and retardation of linear growth. Its manifestation as isolated menarche has been rarely reported. Recently, a five and half year old girl presented to us with history of one episode of vaginal bleeding. A pelvic ultrasonogram revealed multiple cysts in both ovaries and subsequent investigations led to a diagnosis of autoimmune hypothyroidism.
The Successful Use of Infliximab in a Relapsing Case of Susac's Syndrome
Authors: Suran L Fernando, Therese Boyle, Annika Smith, John D E Parratt
Journal: Case Rep Neurol Med (2020)
MeSH terms: Case Reports

Susac's syndrome is a rare and debilitating disease characterized by the triad of encephalopathy, branch retinal artery occlusions, and sensorineural hearing loss. All manifestations may not be clinically apparent at presentation resulting in delayed diagnosis. Early recognition of the syndrome may prevent disease sequelae such as permanent cognitive, visual, and hearing loss. We present such a case of Susac's syndrome that was also refractory to conventionally prescribed combination of immunosuppressive treatments including high-dose potent corticosteroids, intravenous cyclophosphamide, methotrexate, plasma exchange, rituximab, and mycophenolate. His disease was stabilized with infliximab in combination with a tapering course of low-dose prednisone. After 2 years of remission with TNF treatment, consideration is being given to ceasing therapy. He has the sequelae of bilateral sensorineural hearing loss but no visual impairment or cognitive deficits on follow-up with neuropsychometric testing. This is the first case report to our knowledge of the successful use of infliximab for a patient with Susac's syndrome that was necessary following treatment with cyclophosphamide and then rituximab.
Stent implantation in severe aortic coarctation in a pediatric patient with Turner syndrome: Case report and literature review
Authors: Yuese Lin, Ling Zhu, Xuandi Li, Hongjun Ba, Xiufang He, Shujuan Li
Journal: Front Pediatr (2023)
Keywords: turner syndrome, aortic coarctation, complications, covered stent, stent implantation
MeSH terms: Case Reports

Background:
Turner syndrome is a rare systemic disease and a significant proportion of these patients experience aortic coarctation. Selection of optimal therapy for aortic coarctation in patients with Turner syndrome is difficult due to the pathologic change of the systemic vessel.
Case presentation:
We report one successful case of covered stent implantation for the treatment of severe native coarctation of the aorta in a 15-year-old patient with Turner syndrome weighing 36 kg. A covered stent was implanted in this patient. After the stent implantation, the peak systolic pressure gradient immediately decreased from 48 mmHg to 14 mmHg. The aortic diameter at the coarctation site increased from 3 mm to 10 mm after stenting. A femoral arterial complication occurred in this case, and we stabilized the situation finally.
Results:
During a follow-up of 3 years, no restenosis of aortic coarctation was observed and the patient no longer experienced hypertension. The dissection of the right femoral artery remained stable.
Conclusion:
A covered stent implantation for severe aortic coarctation in patients with Turner syndrome could be safe and effective. However, caution should be taken when using the technique to prevent complications.