OpenMed/multicare-articles huggingface dataset:
Case Report: Successful immune checkpoint inhibitor-based rechallenge in a patient with advanced renal clear cell cancer
Authors: Shengxiu He, Liang Wang, Yan Sun, Huakun Du, Xiaomin Yu
Journal: Front Immunol (2023)
Keywords: advanced renal clear cell cancer, immune checkpoint inhibitor, immune-related adverse events, rechallenge, zimberelimab
MeSH terms: Carcinoma, Renal Cell / drug therapy, Kidney Neoplasms / drug therapy, Case Reports, Humans, Immune Checkpoint Inhibitors / adverse effects, Indazoles, pazopanib, Immune Checkpoint Inhibitors, Indazoles

With the rapidly evolving of immune checkpoint inhibitors (ICIs), it has shown remarkable clinical benefits in treating various cancers. However, immune-related adverse events (irAEs) remain a significant challenge in the management of patients undergoing immunotherapy. There are limited data about immunotherapy re-challenge in patients with renal clear cell cancer who had irAE in the initial ICI therapy. In this study, we reported the case of a patient with advanced renal clear cell cancer who developed serious irAEs but also achieved a partial remission of tumor after ICI combined with pazopanib in the first-line treatment. After intravenous methylprednisolone therapy for two weeks, the patient fully recovered from treatment-related toxicities. After a multidisciplinary treatment (MDT) discussion and a communication with the patient, the decision was made to undergo a new fully humanized programmed death 1 (PD-1) agent, zimberelimab, combined with pazopanib for immune restart therapy. After two cycles of treatment, the patient demonstrated a partial response (PR), and the disease remained in continuous remission without any irAE at our last follow-up after 14 months' treatment. Re-challenging with immunotherapy after irAEs is an emerging strategy that offers the potential for additional clinical benefits to previously responding patients. However, careful patient selection and monitoring are essential to maximize the safety and efficacy of this approach.
Bilateral Subacromial-Subdeltoid Rice Bodies in the Shoulder: A Surgical Case Report
Authors: Caroline Rush, Olivia Jochl, Natalie Lowenstein, Jillian Mazzocca, Elizabeth Matzkin
Journal: Case Rep Orthop (2024)
MeSH terms: Case Reports

Introduction:
Rice bodies (RBs) are pale and glossy appearing small fibrinous nodules that form due to synovial or tenosynovial joint inflammation. RBs are significant as they are common in orthopedic practices causing nonspecific symptoms such as pain, swelling, range of motion limitations, crepitus, and catching sensations. These loose bodies occur often within the bursa as a symptom of chronic bursitis and are commonly associated with rheumatoid, inflammatory, or tuberculous arthritis. Reports on RBs are present; however, few bilateral cases within the shoulder appear in the literature. Case Presentation. This case demonstrates an unusual bilateral, subacromial-subdeltoid presentation of rice bodies (RBs) in a 41-year-old Caucasian female patient with a history of rheumatoid arthritis. We describe treatment with right shoulder arthroscopy to remove the loose bodies. One-year postoperative patient-reported outcomes (PROMs) show improvement in symptoms, pain, and overall function.
Conclusion:
Formation of RBs occurs as a symptom of an inflammatory response in synovial joints. This provokes multiple small fibrin aggregates to collect within synovial bursae and occasionally tendon sheaths. RBs are rarely seen bilaterally. Arthroscopic removal of RBs is an appropriate treatment method for symptom improvement.
Case report: Diagnosis and treatment of DGAT1 deficiency-induced congenital diarrhea in two cases and literature review
Authors: Jian Li, Mei Sun, Jing Guo, Lingfen Xu
Journal: Front Pediatr (2023)
Keywords: dgat1 deficiency, congenital diarrhea, diacylglycerol acyltransferase 1 gene, diarrhea, growth retardation, hypoalbuminemia
MeSH terms: Case Reports

Introduction:
Congenital diarrhea is a rare inherited intestinal disease characterized by persistent and severe diarrhea and malabsorption in the first few weeks after birth, which can be life-threatening. Some congenital diarrheal diseases are associated with mutations in the diacylglycerol acyltransferase 1 (DGAT1) gene.
Case descriptions:
This study delineated 2 cases of diarrhea and growth retardation, subsequently confirmed as congenital diarrhea via genetic testing, revealing that the etiology involved compound heterozygous mutations in the DGAT1 gene.
Diagnostic assessments:
High-MCT milk powder did not obtain an ideal outcome, whereas low-fat diets improved the symptoms of diarrhea and increased the body weigths.
Disscussion:
The two cases facilitated our understanding of the clinical features of, and treatments for, patients harboring a DGAT1 mutation and enriched the existing DGAT1 mutation database.
Gouty Tophi Surrounding the Nonabsorbable Sutures of an Achilles Tendon Repair Surgical Site: A Case Report
Authors: Arcole Brandon, Robert Rella, Tanner Cox, Jess Mullens
Journal: Case Rep Orthop (2024)
MeSH terms: Case Reports

The formation of gouty tophi surrounding the prior surgical site years after an Achilles tendon repair is an extremely rare presentation for which only three previous cases have been documented in the literature. In this case, we report the presentation of a 53-year-old male who had an Achilles tendon repair two and a half years prior and no clinical history of gout, yet during the necessary revision procedure of his Achilles tendon, he was found to have gouty tophi surrounding the nonabsorbable sutures used during his initial surgical repair. This case presentation and the three prior ones all involve the use of nonabsorbable sutures, and these sutures may potentially serve as a nidus for the formation of gouty tophi years after a surgical procedure, even in patients who do not have a clinical history of gout. It is important for clinicians to be aware of this rare clinical presentation as potential sequelae include infectious processes and the need for revision procedures.
A novel GNAS mutation in pseudohypoparathyroidism type 1a with articular flexion deformity: A case report
Authors: Jinxing Wan, Dongjuan He, Jun Xie, Zhizhi Chen
Journal: Open Life Sci (2024)
Keywords: albright hereditary osteodystrophy, poh overlap syndrome, congenital hypothyroidism, deformity, inheritance gnas mutation, pseudohypoparathyroidism
MeSH terms: Case Reports

Pseudohypoparathyroidism (PHP) type 1a (PHP 1a) is a rare hereditary disorder characterized by target organ resistance to hormonal signaling and the Albright hereditary osteodystrophy (AHO) phenotype, which features round facial features, short fingers, subcutaneous calcifications, short stature, obesity, and intellectual disability. Progressive osseous heteroplasia (POH) is another rare disorder characterized by heterotopic ossification (HO) that progressively affects skin, subcutaneous tissues, and deep skeletal muscle. PHP 1a is inherited maternally due to a GNAS mutation, while pure POH is inherited paternally. This case study presented a Chinese boy with congenital hypothyroidism, tonic-clonic seizures, hypoparathyroidism, AHO, POH, and joint fixation deformity. Sequencing analysis of GNAS-Gsα revealed a heterozygous C.432+2T>C(P.?) variant (NM_000516.7) affecting the canonical splice donor site of intron 5 in the boy and his mother, indicating maternal inheritance of a GNAS mutation. The patient was diagnosed with POH overlap syndrome (POH/PHP 1a). Following calcium and calcitriol supplementation, he experienced a reduction in seizures, and surgery was performed to correct the joint fixation deformity caused by HO. This case report provided valuable insights into the genotype-phenotype correlations of POH overlap syndrome and underscored the significance of genetic testing in diagnosing rare diseases.
Case report: A case of hypocalcemic cardiomyopathy with non-reversible cardiac fibrosis
Authors: Ying Xie, Jing Yang, Kun Li, Fang Liu, Yi Yi, Ping Zhang
Journal: Front Cardiovasc Med (2023)
Keywords: cardiac fibrosis, heart failure, hypocalcemic cardiomyopathy, non-reversible, thyroidectomy
MeSH terms: Case Reports

Hypocalcemic cardiomyopathy is a rare etiology of heart failure. It is considered highly reversible with a relatively favorable prognosis. This case reports a 52-year-old housewife diagnosed with hypocalcemic cardiomyopathy who presented with acute decompensated heart failure and hypocalcemia symptoms with a history of thyroidectomy. Shortness of breath and edema were relieved after diuresis and prompt electrolyte correction. The left ventricular ejection fraction increased from 27% to 53%, and the left ventricular end-diastolic dimension shortened from 58 to 50 mm in echocardiographic re-examinations, while repeat cardiac magnetic resonance imaging revealed evidence of non-reversible cardiac fibrosis after 1-year follow-up. Cardioprotective agents with close follow-ups were called for in this entity of patients.
Scleral Fixation of Toric Intraocular Lens in the Absence of Capsular Support
Authors: Karolina Krix-Jachym, Natalia Błagun, Marek Rękas
Journal: Case Rep Ophthalmol Med (2024)
MeSH terms: Case Reports

The study is aimed at describing a technique for scleral fixation of toric intraocular lens (TIOL) in the eyes without capsular support coexisting with corneal astigmatism. A monofocal toric hydrophobic lens with eyelets at the optic-haptic junction (enVista One-Piece Hydrophobic Acrylic MX60T Toric IOL; Bausch & Lomb) was fixated to the sclera using two fragments of 6-0 polypropylene monofilament, the ends of which were brought out through the sclera and cauterized. The astigmatic axis of a TIOL was adjusted according to the corneal astigmatic axis of the patient. The surgery was performed in the 5 eyes of 5 patients without capsular support. The method was safe and effective in fixing the lens to the sclera, and it ensured good centration of TIOL with predictable refractive outcomes. No conjunctival sutures, glue, or flap formation was required during the surgery. There were no relevant complications related to the procedure.
A fluorescence viewer for rapid molecular assay readout in space and low-resource terrestrial environments
Authors: Kristoff Misquitta, Bess M Miller, Kathryn Malecek, Emily Gleason, Kathryn Martin, Chad M Walesky, Kevin Foley, D Scott Copeland, Ezequiel Alvarez Saavedra, Sebastian Kraves
Journal: PLoS One (2024)
MeSH terms: COVID-19, Biological Assay, Humans, Molecular Diagnostic Techniques / methods, Nucleic Acid Amplification Techniques / methods, Point-of-Care Testing, RNA, Viral / genetics, SARS-CoV-2 / genetics, Sensitivity and Specificity, RNA, Viral

Fluorescence-based assays provide sensitive and adaptable methods for point of care testing, environmental monitoring, studies of protein abundance and activity, and a wide variety of additional applications. Currently, their utility in remote and low-resource environments is limited by the need for technically complicated or expensive instruments to read out fluorescence signal. Here we describe the Genes in Space Fluorescence Viewer (GiS Viewer), a portable, durable viewer for rapid molecular assay readout that can be used to visualize fluorescence in the red and green ranges. The GiS Viewer can be used to visualize any assay run in standard PCR tubes and contains a heating element. Results are visible by eye or can be imaged with a smartphone or tablet for downstream quantification. We demonstrate the capabilities of the GiS Viewer using two case studies-detection of SARS-CoV-2 RNA using RT-LAMP and quantification of drug-induced changes in gene expression via qRT-PCR on Earth and aboard the International Space Station. We show that the GiS Viewer provides a reliable method to visualize fluorescence in space without the need to return samples to Earth and can further be used to assess the results of RT-LAMP and qRT-PCR assays on Earth.
Heart transplantation using a donor heart with repaired tetralogy of Fallot: a case report
Authors: Takura Taguchi, Daisuke Yoshioka, Koichi Toda, Shigeru Miyagawa
Journal: Eur Heart J Case Rep (2023)
Keywords: case report, heart transplantation, marginal donor, tetralogy of fallot
MeSH terms: Case Reports

Background:
Heart transplantation is the gold standard therapy for end-stage heart failure; however, it is limited by a shortage of available donors. In recent years, heart transplantations have been performed using marginal donor hearts with valvular and/or congenital cardiac abnormalities.
Case summary:
A 60-year-old woman with acromegalic cardiomyopathy underwent left ventricular assist device implantation and aortic valve (AV) closure 4 years prior. After 2 months, repeat AV closure and omental flap transposition were performed. During the outpatient follow-up, the patient developed recurrent severe AV regurgitation and bacteraemia-induced subarachnoid haemorrhage. She underwent urgent heart transplantation using a marginal donor heart with preserved cardiac function, mild pulmonary valve stenosis, and regurgitation after pulmonary valve-sparing tetralogy of Fallot (TOF) repair. An anatomical anastomosis was possible. She had no signs of infection, heart failure, arrhythmia, or immune rejection 15 months after the heart transplantation.
Discussion:
In this case, the donor heart with repaired TOF did not require pulmonary valve replacement and was anatomically intact. Donor hearts with repaired TOF that are expected to have long-term durability in terms of cardiac function may be used for successful heart transplantations. The repair of marginal donor hearts creates an opportunity to increase the number of viable donors.
Case report: Successful treatment of OXA-23 Acinetobacter baumannii neurosurgical infection and meningitis with sulbactam-durlobactam combination therapy
Authors: Jacob W Snowdin, Nicholas J Mercuro, Michael P Madaio, Stephen A Rawlings
Journal: Front Med (Lausanne) (2024)
Keywords: acinetobacter baumanii, carbapenem-resistant acinetobacter baumanii, meningitis, nosocomial infection, sulbactam-durlobactam
MeSH terms: Case Reports

Meningitis caused by Acinetobacter species is a rare complication of neurosurgical procedures, although it is associated with high morbidity and mortality. Carbapenem-resistant Acinetobacter is particularly difficult to treat, considering the limited selection and tolerability of effective antimicrobials. Sulbactam-durlobactam was approved by the FDA in 2023 for treatment of hospital-acquired and ventilator-associated pneumonia due to susceptible strains of Acinetobacter, including carbapenem-resistant Acinetobacter baumannii. Here, we present a case of carbapenem-resistant Acinetobacter baumannii neurosurgical infection and meningitis successfully treated with sulbactam-durlobactam combination therapy.
Hemorrhagic varices around the pancreatojejunostomy site due to left-sided portal hypertension after pancreaticoduodenectomy: A case report
Authors: Yasuaki Abe, Tatsuhide Nabeshima, Kazuhiro Sakuta, Yuko Nishise, Michio Kuroki
Journal: DEN Open (2024)
Keywords: cyanoacrylates, endoscopic hemostasis, hemorrhagic varices, pancreaticoduodenectomy, sinistral portal hypertension
MeSH terms: Case Reports

Pancreaticoduodenectomy (PD) with combined portal vein resection sometimes causes left-sided portal hypertension, which can be a problem. An appropriate treatment strategy for hemorrhagic ectopic varices due to left-sided portal hypertension after PD has not yet been determined. We report a case of repeated variceal rupture around the pancreatojejunostomy site. A 65-year-old woman with a history of PD for pancreatic head cancer was admitted with a chief complaint of bloody stools. She was diagnosed with pancreatojejunostomy variceal rupture, and an endoscopic cyanoacrylate injection was performed. As rebleeding occurred 2 weeks after the first treatment, endoscopic cyanoacrylate injection was repeated, and hemostasis was achieved. Additionally, she had esophageal, colonic, and gastrojejunostomy varices, and the future risk of these variceal ruptures was considered very high. Hence, a splenectomy was performed to prevent rebleeding or other variceal ruptures. Endoscopic cyanoacrylate injection is a useful treatment for hemorrhagic varices around the pancreatojejunostomy site. It is also necessary to understand portal vein hemodynamics and provide appropriate additional treatment in cases of recurrent variceal rupture due to left-sided portal hypertension after PD.
Repair of complex esophageal atresia with tracheobronchial remnant using special magnets
Authors: Charlotte Reich, Elena Weigl, Anne-Sophie Holler, William Lee, Michael Harrison, Oliver J Muensterer
Journal: European J Pediatr Surg Rep (2024)
Keywords: anastomosis, esophageal atresia, magnet, thoracotomy, tracheobronchial remnant
MeSH terms: Case Reports

Esophageal atresia (EA) repair can be complicated by associated malformations such as a tracheobronchial remnant in the distal esophagus. We describe our experience with a patient found to have long-gap EA with a distal cartilaginous ring who was managed using a combination of esophageal lengthening and magnetic compression anastomosis. A 5-month-old girl was referred to us from an outside hospital with type C EA including a very high upper pouch. She had undergone a prior thoracotomy with fistula ligation during which a clip was placed on the lower esophagus, leaving a 2-cm diverticulum on the trachea and a short lower esophageal pouch. Upon endoscopic evaluation at our center, we found a tracheobronchial remnant in the lower esophagus between the clip and the carina. An open thoracotomy was performed to approximate the esophageal pouches and a magnet anchor (Connect EA, Myka Laboratories, San Francisco, California, United States) was placed retrograde through the distal esophageal cartilaginous ring into the lower pouch. On postoperative day 8, after adequate growth and decreased pouch tension, a second magnetic anchor was placed endoscopically to the upper pouch to mate with the previously placed lower pouch anchor. The anastomosis formed within 14 days. Due to the tracheobronchial remnant, the device did not pass distally and was removed endoscopically. On postoperative day 8, balloon dilation of the anastomosis and tracheobronchial remnant was performed. Subsequently, the patient required a total of 6 dilations in an 18-month follow-up. This case report illustrates the utility of using magnets to create an esophageal anastomosis in complex cases of EA with concomitant esophageal malformations. The parents of the patient gave their written consent to publish this technical report.
Implementation of strategies and programs for breastfeeding, complementary feeding, and malnutrition of young children in Brazil: advances and challenges
Authors: Sonia Isoyama Venancio, Gabriela Buccini
Journal: Cad Saude Publica (2023)
MeSH terms: Breast Feeding, Malnutrition / prevention & control, Brazil, Child, Child Nutritional Physiological Phenomena, Child, Preschool, Female, Humans, Infant, Infant Nutritional Physiological Phenomena

Malnutrition in all its forms has risen on global agendas due to the recognition of its magnitude and consequences for a wide range of human, social, and economic outcomes. Implementing strategies and programs with the needed scale and quality is a major challenge. The Brazilian National Survey on Child Nutrition (ENANI-2019) pointed out several advances but numerous challenges. In this paper, we reflect on the implementation progress of breastfeeding, complementary feeding and young children malnutrition strategies and programs in Brazil and how existing challenges can be overcome through the lens of implementation science. First, we present a brief history of such programs. Second, we selected two breastfeeding initiatives to illustrate and reflect on common implementation challenges. In these case studies, we used the RE-AIM (Reach, Effectiveness, Adoption, Implementation, Maintenance) framework to analyze the implementation and scaling up barriers and facilitators. We found common barriers related to unclear goals about the reach of programs, challenges in assessing effectiveness and fidelity/quality during the real-world implementation, discontinuation or lack of funding, and lack of monitoring and evaluation impacting the sustainability of programs. We also discuss the use of implementation science to achieve adequate nutrition by 2030 and present critical elements for successful scale implementation of nutrition programs based on global evidence. Despite the investment to implement different actions aimed at facing infant feeding and malnutrition, high-quality implementation research must become a priority to catalyze progress in Brazil.
Intraoperative Embolization during Inferior Vena Cava Tumor Thrombectomy for Renal Cell Carcinoma
Authors: Samantha A Roberts, Divyaam Satija, Henry Gold, Mina S Makary, Jing G Wang, Eric A Singer, Tasha Posid, Nahush A Mokadam, Shawn Dason
Journal: J Kidney Cancer VHL (2023)
Keywords: rcc, embolization, intraoperative, thrombectomy, tumor
MeSH terms: Case Reports

Intraoperative tumor thrombus embolization is a potentially lethal complication during inferior vena cava (IVC) thrombectomy for renal cell carcinoma (RCC). Intraoperative embolization is uncommonly encountered because IVC thrombectomy surgical technique is focused on avoiding this complication. Nonetheless, early recognition of embolization is essential so that emergent management can be instituted. When available, cardiopulmonary bypass (CPB) and embolectomy should be considered the gold standard for the management of intraoperative embolization. Several novel endovascular techniques are also available for selective use. We present the case of a 71-year-old female with a right renal mass and level II (retrohepatic) IVC tumor thrombus. During cytoreductive nephrectomy and IVC thrombectomy, tumor embolization was diagnosed during a period of hypotension based on transesophageal echocardiographic finding of new thrombus within the right atrium. This prompted sternotomy, CPB, and pulmonary artery embolectomy. The patient survived this embolization event and has a complete response to systemic therapy 9 months postoperatively. This case serves as the framework for a discussion on management considerations surrounding intraoperative embolization during IVC thrombectomy.