OpenMed/multicare-articles huggingface dataset:
Exceptional Response of Metastatic Chromophobe Renal Cell Carcinoma to Vascular Endothelial Growth Factor (VEGF) Inhibitors: Should Increased VEGF-C Expression Be Used to Guide Treatment?
Authors: Jacob W Bruinius, Karl J Dykema, Sabrina L Noyes, Bin Tean Teh, Brian R Lane
Journal: Case Rep Urol (2019)
MeSH terms: Case Reports

There is sparse literature demonstrating effective treatments for metastatic chromophobe renal cell carcinoma (ChRCC). The tyrosine kinase inhibitor (TKI) sunitinib selectively inhibits the VEGF pathway and it is a standard care for metastatic clear cell renal cell carcinoma (ccRCC), although data supporting its use in ChRCC is much more limited. A 56-year-old underwent palliative nephrectomy for locally-advanced ChRCC with sarcomatoid differentiation. Tumor gene expression profiling using Affymetrix HG-U133 Plus 2.0 GeneChip platform demonstrated significantly elevated VEGF-C expression compared to normal renal tissue (n = 12) and other types RCC (n = 158). Adjuvant sunitinib was used to treat his residual unresectable retroperitoneal lymph nodes. He demonstrated an exceptional response and underwent complete surgical resection four months later. He has been managed with TKIs for nearly nine years with only minimal disease progression. Additional studies exploring treatment options for patients with non-clear cell RCC are needed; in their absence, we would recommend TKIs for patients whose tumors bear a similar molecular profile.
Identification and In Vitro Functional Verification of Two Novel Mutations of GHR Gene in the Chinese Children with Laron Syndrome
Authors: Ran Li, Fengying Gong, Hui Pan, Hanting Liang, Hui Miao, Yuxing Zhao, Lian Duan, Hongbo Yang, Linjie Wang, Shi Chen, Huijuan Zhu
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: ghr gene mutation, hepg2 cells, laron syndrome, stat5, subcellular distribution
MeSH terms: Carrier Proteins / genetics, Laron Syndrome / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Child, Child, Preschool, China, DNA Mutational Analysis, HEK293 Cells, Hep G2 Cells, Humans, Laron Syndrome / diagnosis, Laron Syndrome / pathology, Male, Mutation, Carrier Proteins, somatotropin-binding protein

Purpose:
Laron syndrome (LS) is a severe growth disorder caused by GHR gene mutation or post-receptor pathways defect. The clinical features of these patients collected in our present study were summarized, GHR gene variants were investigated and further in vitro functional verification was carried out.
Methods:
Four patients with LS were collected, their clinical characteristics were summarized, genomic DNA was extracted, and GHR gene was amplified and sequenced. GHR wild type (GHR-WT) and mutant GHR expression plasmids were constructed, and transiently transfected into HepG2 cells and HEK293T cells to observe the subcellular distribution of the GHR protein by immunofluorescence and to determine the expression of GHR and its post-receptor signaling pathway changes by Western blotting.
Results:
All of the four patients were male, and the median height was -4.72 SDS. Four GHR gene variants including c.587A>C (p.Y196S), c.766C>T (p.Q256*), c.808A>G (p.I270V) and c.1707-1710del (p.E570Afs*30) were identified, and the latter two were novel mutations. The results of mutant GHR plasmids transfection experiments and immunofluorescence assay showed that the subcellular distribution of GHR-Q256* and GHR-E570Afs*30 mutant proteins in HepG2 and HEK293T cells presented with a unique ring-like pattern, gathering around the nucleus, while GHR-Y196S mutant protein was evenly distributed on HepG2 cell membrane similar to GHR-WT. The GHR protein levels of HepG2 cells transiently transfected with GHR-Y196S, GHR-Q256* and GHR-E570Afs*30 were all significantly lower when compared with cells transfected with GHR-WT (P<0.05). Further mutant GHR post-receptor signal transduction investigation demonstrated that GH induced phosphorylated STAT5 levels of HepG2 cells transfected with three mutant plasmids were all significantly decreased in comparison with that of GHR-WT (P<0.05).
Conclusions:
Two novel GHR gene mutations (I270V and E570Afs*30) were found in our patients with LS. GHR mutations influenced the subcellular distribution and GHR protein levels, then led to the impaired post-receptor signal transduction, suggesting that the GHR mutations contributed to the pathological condition of LS patients.
Metagenomic next-generation sequencing may assist diagnosis of cat-scratch disease
Authors: Mingxia Li, Kunli Yan, Peisheng Jia, Erhu Wei, Huaili Wang
Journal: Front Cell Infect Microbiol (2022)
Keywords: bartonella henselae, cat-scratch disease, diagnosis, infection, mngs
MeSH terms: Bartonella henselae / genetics, Cat-Scratch Disease / diagnosis, Cat-Scratch Disease / drug therapy, Case Reports, Anti-Bacterial Agents / therapeutic use, Diagnosis, Differential, High-Throughput Nucleotide Sequencing, Humans, Anti-Bacterial Agents

Bartonella henselae, the pathogen that causes cat-scratch disease (CSD), is relatively rare in the clinic. CSD usually causes mild clinical manifestations, which self-heal in a matter of weeks. However, in immunocompromised patients, CSD may cause systemic disorders that can lead to critical illness. Due to the diversity of symptom signs and the lack of a golden standard for diagnosis, identifying atypical CSD in a timely manner presents a challenge. Metagenomic next-generation sequencing (mNGS), is a promising technology that has been widely used in the detection of pathogens in clinical infectious diseases in recent years. mNGS can detect multiple pathogens quickly and accurately from any given source. Here, we present a case of atypical CSD, which was diagnosed using mNGS. The patient manifested a fever of unknown infectious origin, and routine antibiotic treatment was ineffective. mNGS was employed to test the patient's peripheral blood, which led to the detection of B. henselae. This was rarely seen in previous CSD reports. We surmised that the patient presented with atypical CSD and thus a targeted therapy was recommended. Crucially, the patient recovered rapidly. Based on this case study findings, we recommend that CSD should be included in the differential diagnosis for fever of unknown origin and that mNGS may be helpful in the diagnosis of CSD.
Use of Idarucizumab to Revert the Anticoagulant Effect of Dabigatran in Heart Transplant Surgery: An Institutional Experience
Authors: Álvaro Herrera-Escandón, Orlando Castaño-Cifuentes, Carlos A Plata-Mosquera
Journal: Case Rep Cardiol (2020)
MeSH terms: Case Reports

Heart transplant is a surgical procedure with a high risk of perioperative bleeding in patients with a previous history of sternotomy, congestive liver disease, and/or use of oral anticoagulants. Anticoagulation is usually done with coumarin agents (warfarin, acenocoumarol), while on the waiting list, vitamin K is available allowing for partial reversal of the anticoagulant effect, although with variable INR and risk of uncontrolled bleeding. Direct oral anticoagulants have emerged as an alternative to the use of coumarins in patients with nonvalvular atrial fibrillation (NVAF). The main disadvantage of this group of drugs is that there was no specific reversal agent available that would allow an urgent reversal of the anticoagulant effect. The recent commercialization of idarucizumab (specific reversal agent) has allowed patients with NVAF on the waiting list for heart transplant to be treated with dabigatran. We present the case of a patient with advanced chronic heart failure and NVAF anticoagulated with dabigatran, who underwent urgent heart transplant after administration of idarucizumab, without complications derived from its use or from anticoagulation.
Dogs: A Man's Best Friend or a Deadly Beast-A Discussion on Capnocytophaga canimorsus
Authors: Swathi Muttana, Christopher Solowiej Singh, Sabina Dhami, Spyridon Ntelis, Dana Dhami, Miriam Michael
Journal: Case Rep Orthop (2022)
MeSH terms: Case Reports

Capnocytophaga canimorsus is a catalase-positive and oxidase-positive gram-negative bacillus commonly found in dog saliva that is a rare cause of infection in immunocompromised individuals. We report the case of a 70-year-old woman with Waldenström macroglobulinemia treated with ibrutinib and a history of bilateral shoulder arthroplasty and bilateral knee arthroplasty who reported a 1-year history of multi-joint pain and swelling. The patient resides with two pet dogs that often scratch and bite, penetrating the skin, and on culture was found to have Capnocytophaga canimorsus.
Primary Epithelioid Sarcoma of Orbit: A Case Report and Review of the Literature
Authors: Erin A Kaya, Talmage J Broadbent, Cheddhi J Thomas, Aaron E Wagner, Steve H Thatcher, Wayne T Lamoreaux, Robert K Fairbanks, Christopher M Lee
Journal: Case Rep Oncol Med (2018)
MeSH terms: Case Reports

Epithelioid sarcoma is a rare high-grade malignancy identified by Enzinger in 1970. It accounts for 1% of all reported soft tissue sarcomas and presents most commonly in distal upper extremities in young adults with a male predominance. At this time, there are only 5 previously reported cases of primary epithelioid sarcoma of the orbit. We present a primary orbital epithelioid sarcoma case of a patient who underwent orbital exenteration followed by external beam radiation treatment. Because the literature is limited, this is to our knowledge the largest descriptive analysis of cases of orbital epithelioid sarcoma. We also provide a detailed review of all the previously reported primary orbital epithelioid sarcoma cases, as well as a discussion on the use of postoperative radiation therapy for patients with epithelioid sarcoma. Surgical resection followed by adjuvant radiation therapy appears to be a safe option for local treatment of this rare malignancy, but further future studies are needed of this rare clinical situation in order to better understand and optimize treatment for patients with orbital epithelioid sarcoma.
Concurrent Squamous Cell Carcinoma and Chronic Lymphocytic Leukemia Presenting as an Enlarging Neck Mass
Authors: Prabhjot Bhinder, Michael Chahin, Lara Zuberi
Journal: J Investig Med High Impact Case Rep (2019)
Keywords: chronic lymphocytic leukemia, concurrent, oropharyngeal, squamous cell carcinoma
MeSH terms: Carcinoma, Squamous Cell / pathology, Leukemia, Lymphocytic, Chronic, B-Cell / pathology, Tonsillar Neoplasms / pathology, Case Reports, Biopsy, Carcinoma, Squamous Cell / therapy, Disease Progression, Female, Humans, Laryngoscopy, Leukemia, Lymphocytic, Chronic, B-Cell / therapy, Middle Aged, Neoplasms, Multiple Primary, Radiotherapy, Rituximab / therapeutic use, Tonsillar Neoplasms / therapy, Rituximab

Chronic lymphocytic leukemia (CLL) patients are at an increased risk for developing more aggressive lymphomas via Richter's transformation and of developing secondary malignancies. Despite the known association for secondary cancers, oropharyngeal cancers occur rarely. We present a case of a woman with a history of CLL who presented to our facility via transfer for impending airway compromise. Her initial workup was consistent with CLL; however, biopsies were taken of the neck mass because of its aggressive nature. She was treated with rituximab with good response. Final pathology showed evidence of CLL and tonsillar squamous cell carcinoma (SCC). Direct laryngoscopy and further biopsies yielded a diagnosis of unresectable oropharyngeal SCC. She was to be treated with chemotherapy and radiation for her SCC while holding treatment for CLL. This case demonstrates a rare and unexpected concurrent diagnosis.
Case Report: Transvertebral transposition of the spinal cord for recovery after paraplegia during kyphoscoliosis surgery
Authors: Chao Chen, Zhen Zhao, Jing Li, Qiankun Xu, Weibin Zhong, Bingjin Wang, Lingwei Zhu, Cao Yang, Yong Gao
Journal: Front Neurol (2022)
Keywords: case report, experimental therapeutics spinal cord transposition, intraoperative neurophysiological monitoring, kyphoscoliosis, motor-evoked potentials, neurological dysfunction, neurology, spinal cord transposition
MeSH terms: Case Reports

Introduction:
Neurological impairment during spinal deformity surgery is the most serious possible complication. When confronting intraoperative neurophysiological monitoring alerts, various surgical management methods such as the release of implants and decompression of the spinal cord are always performed. Transvertebral transposition of the spinal cord is rarely performed, and its role in the management of acute paraplegia is seldom reported.
Case description:
The authors present two patients with kyphoscoliosis who experienced neurological deficits and abnormal neurological monitoring intraoperatively or post-operatively that were detected during correction surgery. Acute paraplegia was confirmed by a wake-up test. Subsequent spinal cord transposition was performed. Intraoperative neurophysiological monitoring motor-evoked potentials (MEPs) and somatosensory-evoked potentials (SEPs) were performed to detect the changes during the process. After transvertebral transposition of the spinal cord, the MEPs and SEPs were significantly improved in both patients during surgery. The spinal cord function was restored post-operatively and recovered to normal at the final follow-up in two patients.
Conclusion:
This case demonstrated that instead of decreasing the correction ratio of kyphoscoliosis, transvertebral transposition of the spinal cord under intraoperative neurophysiological monitoring may be an alternative therapeutic strategy for acute spinal cord dysfunction caused by deformity correction surgeries.
Lower leg compartment syndrome after appendicectomy
Authors: Shane C O'Neill, Darren F Lui, Colm Murphy, Patrick J Kiely
Journal: Case Rep Orthop (2015)

A 10-year-old boy presented with severe left lower leg pain, uncontrolled with increasing analgesia after appendicectomy. A diagnosis of acute compartment syndrome was made after a delayed referral to the orthopaedic service. The patient subsequently underwent an emergency fasciotomy and made a good functional recovery. To the best of our knowledge this is the first reported case of paediatric lower leg compartment syndrome after appendicectomy in the literature. The case report serves to highlight the importance of maintaining a high index of suspicion for compartment syndrome.
Living Donor Liver Transplantation for Caroli's Disease: A Report of Two Cases
Authors: Klaus Steinbrück, Marcelo Enne, Reinaldo Fernandes, Jose M Martinho, Lúcio F Pacheco-Moreira
Journal: ISRN Surg (2011)
MeSH terms: Case Reports

Caroli's disease (CD) is a rare autosomal recessive disorder characterized by intrahepatic cystic dilatation of the bile ducts. Patients with bilobar or progressive disease may require orthotopic liver transplantation (OLT). In the MELD era, living donor liver transplantation (LDLT) raised as the ultimate treatment option for these patients, once their MELD score is usually low. Herein, we describe 2 cases of patients (a 2-year-old girl and a 19-year-old teenager) that successfully underwent LDLT as a treatment for diffuse CD. The good postoperative courses of the two cases indicate that LDLT is a feasible option in the treatment of this disorder, even in complicated or early age patients.
Facilitating Uptake of Post-abortion Contraception for Young People in Kenya
Authors: Faith Mbehero, Ruth Momanyi, Kate Hesel
Journal: Front Glob Womens Health (2022)
Keywords: abortion, community engagement, contraception, long acting reversible contraception (larc), post abortion care, post-abortion contraception and family planning, young people

Globally, maternal mortality is unacceptably high, and unsafe abortion is the most easily preventable cause of maternal death. Post-abortion contraception, recognized as a High Impact Practice in Family Planning, can reduce rates of unintended pregnancies and unsafe abortion and ultimately save lives. Implementation of this, however, is limited, especially for young people. This case study documents strategies, results, and lessons learned from Planned Parenthood Global's project in South West Kenya, which improved access to and provision of comprehensive abortion care, including safe abortion, post-abortion care and post-abortion contraception, at 80 public and private health facilities. By prioritizing training and mentorship of mid-level providers on both medical and surgical abortion care, post-abortion contraception and youth friendly services, in addition to community engagement and referrals, this intervention removes common barriers to care for women and young people. Eighty-five percent of abortion care clients served by the project accepted same-day contraception, with the vast majority-including 90% of clients aged 24 and under-choosing long-acting reversible contraception. The Closing the Gap project was funded by an anonymous donor.
Successful delivery in a woman with ventricular septal defect complicated with Eisenmenger syndrome: case report
Authors: Sara Ait Souabni, El Habib Belhaddad
Journal: Pan Afr Med J (2022)
Keywords: eisenmenger syndrome, case report, congenital heart disease, high-risk pregnancy, ventricular septal defect
MeSH terms: Eisenmenger Complex / complications, Eisenmenger Complex / diagnosis, Heart Defects, Congenital, Heart Septal Defects, Ventricular / complications, Case Reports, Adult, Female, Humans, Maternal Mortality, Pregnancy

Eisenmenger syndrome is a dramatic complication of certain heart diseases. It is an absolute contra-indication to pregnancy because it holds a high risk of maternal-fetal mortality. Nowadays, we don´t see much of this condition, because congenital heart defects are diagnosed during childhood, infancy, or prenatally; and even if a pregnancy occurs, it is usually terminated as soon as it is diagnosed. Nevertheless, some women are willing to carry the risks that come with their condition. We report the case of a 26-year-old woman with an undiagnosed interventricular septal wall defect that evolved into Eisenmenger syndrome during her pregnancy. A successful elective C-section was done under epidural anesthesia and close monitoring. When facing this challenging situation, there are no clear guidelines, however, premature and elective delivery is paramount.
Spontaneous Pneumomediastinum Associated with COVID-19 Pneumonia
Authors: Hamza Mimouni, Soufiane Diyas, Jamal Ouachaou, Ilyas Laaribi, Younes Oujidi, Manal Merbouh, Houssam Bkiyer, Brahim Housni
Journal: Case Rep Med (2020)
MeSH terms: Case Reports

The first case of coronavirus disease 2019 (COVID-19) was declared in December in Wuhan, before becoming a global pandemic in a few weeks. Several complications of this infection have been reported. However, a spontaneous pneumomediastinum has rarely been described. We report the fourth case of this extremely rare complication in a 65-year-old male patient with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) pneumonia, discovered during his therapeutic management by a CT scan control.
Implant-Supported Rehabilitation Using GBR Combined with Bone Graft on a Reconstructed Maxilla with the Fibula Free Flap
Authors: S Di Carlo, V Valentini, E Grasso, F De Angelis, L Piccoli, A Quarato, S Jamshir, E Brauner
Journal: Case Rep Dent (2019)
MeSH terms: Case Reports

Alveolar ridge augmentation procedures allow restoring jaw defects due to teeth extractions, periodontal diseases, trauma, or outcomes from a previous surgery. This case report describes a patient suffering from Fibrous Dysplasia of the right upper maxilla surgically reconstructed by fibula free flap. In 2003, four dental implants were placed in the 1.2, 1.3, 1.5, and 1.6 areas. Twelve years later, the onset of peri-implantitis led to the failure of osseointegration with consequent thinning of the fibula flap. To avoid the risk of fracture and to restore the bone volumes necessary for a new implant-prosthetic rehabilitation, we used heterologous biomaterials in combination with a non-reabsorbable membrane, according to the Guided Bone Regeneration (GBR) technique. GBR was performed using the Equimatrix® natural bone mineral matrix, Cytoplast™ Ti-150, a non-reabsorbable titanium-reinforced membrane, and four fastening screws to pin the membrane. After six months, the membrane was removed and two Zimmer® implants 3.7 × 13 mm were placed in the 1.1 and 1.2 areas. A fixed implant-supported prosthesis with a custom-milled titanium bar screwed to the implants was made. Computed tomography (CT) six months after GBR showed a good bone regeneration of 1.5 cm mesiodistal (MD), 1.8 cm buccopalatal (BP), and 2.8 cm in height. The main difficulty of this clinical case concerns the low predictability of success of GBR on a maxillary reconstructed area with a free fibula flap: there is no previous evidence in the literature. Clinical and radiographic exams nowadays show that there is no macroscopic bone reabsorption; however, further research is needed to obtain more information.
Not "Much Room" in the Heart: A Rare Case of a Massive Intracardiac Candida Mass
Authors: Ali Haider Jafry, Sardar Hassan Ijaz, Murtaza Mazhar, Areeba Shahnawaz, Ali Yousif
Journal: Case Rep Infect Dis (2021)
MeSH terms: Case Reports

Introduction:
Coupled with the increasing use of indwelling vascular catheters and prosthetic cardiac valves is an uptrend in sepsis secondary to fungemia. An insidious onset often shrouds the initial diagnosis, contributing to poor outcomes. Candida infective endocarditis (CIE) is a feared complication of candidemia, associated with high mortality rates. It requires prolonged hospital stays for medical and, often, surgical management. We report a case of a massive intracardiac Candida mass in an adult with native valve CIE.
Case:
A 51-year-old male on chronic total parenteral nutrition (TPN) because of bowel resection presented with fevers, night sweats, and unintentional weight loss. He was febrile and tachycardiac on admission, with a benign physical examination. Laboratory workup showed elevated inflammatory markers and an acute kidney injury. Extended blood cultures showed growth of Candida glabrata (C. glabrata) and Candida dubliniensis (C. dubliniensis). Transthoracic (TTE) and transesophageal echocardiography revealed a large mobile right atrial mass (4 cm × 6 cm × 2.5 cm), extending to the right ventricular outflow tract. Since he was a poor surgical candidate, management with micafungin was initiated and continued for 8 weeks. He responded well to the regimen with resolution of the fungal mass on follow-up TTE 3 months later. In anticipation of the future need for TPN, he continues on lifelong suppressive oral fluconazole.
Conclusion:
CIE may be an insidious complication of indwelling central venous catheters, necessitating a high index of suspicion. Conservative management, with antifungal therapy, can yield favorable outcomes in poor surgical candidates.
A large left ventricular pseudoaneurysm in Behçet's disease: a case report
Authors: Seyed Mojtaba Marashi, Payam Eghtesadi-Araghi, Mohammad Hussein Mandegar
Journal: BMC Surg (2005)
MeSH terms: Aneurysm, False / etiology, Behcet Syndrome / complications, Case Reports, Adolescent, Aneurysm, False / diagnosis, Aneurysm, False / surgery, Heart Ventricles / pathology, Humans, Male

Background:
Behçet's disease is a collagen-vascular disease most commonly seen in Asia and Mediterranean area. Different organs and systems including cardiovascular system could be involved. Pseudoaneurysm is the most common form of arterial involvement in Behçet's disease; however, cardiac pseudoaneurysm is rare.
Case presentation:
A rare case of 13 years old boy with a 4-year history of Behçet's disease with development of a huge left ventricular pseudoaneurysm is reported who had been admitted because of cough, chills, fever, and chest pain. Findings obtained on echocardiography, magnetic resonance imaging, chest computed tomography and coronary angiography confirmed a left ventricular pseudoaneurysm. There was no complication for next 24 months follow up period after surgical treatment.
Conclusion:
Considering its fatality and nonspecific manifestations, one should consider cardiac pseudoaneurysms as a potential risk in any patient with Behçet's disease.