OpenMed/multicare-articles huggingface dataset:
Case Report: Neoadjuvant PD-1 Blockade Plus Concurrent Chemoradiotherapy in Unresectable Locally Advanced Gastric Cancer Patients
Authors: Jia Wei, Xiaofeng Lu, Qin Liu, Lin Li, Song Liu, Fangcen Liu, Yao Fu, Xiangshan Fan, Yang Yang, Chuang Qi, Yangyang Yu, Wenxian Guan, Baorui Liu
Journal: Front Oncol (2021)
Keywords: pd-1 inhibitor, chemoradiotherapy, immune microenvironment, locally advanced gastric cancer, neoadjuvant
MeSH terms: Case Reports

Programmed death 1(PD-1) blockade has shown promising efficacy in advanced gastric cancer. Here, we performed a retrospective analysis of three patients with locally advanced gastric cancer who received adjuvant PD-1 plus chemoradiotherapy as neoadjuvant treatment. Neoadjuvant sintilimab plus concurrent chemoradiotherapy had an acceptable side-effect profile. All three patients underwent surgical gastrectomy after a median of 3.9 months. A major pathological response occurred in two resected tumors and a pathologic complete response was observed in one patient. Our results suggest that PD-1 blockade combined with chemoradiotherapy is a promising strategy as a neoadjuvant therapy in patients with unresectable locally advanced gastric cancer.
Case report of iatrogenic cerebral amyloid angiopathy after exposure to Lyodura: an Australian perspective
Authors: Claire Muller
Journal: Front Neurosci (2023)
Keywords: lyodura, cerebral amyloid angiopathy, hemorrhagic stroke, iatrogenic cerebral amyloid angiopathy, intracerebral hemorrhage
MeSH terms: Case Reports

Background:
Recently proposed diagnostic criteria for iatrogenic cerebral amyloid angiopathy (iCAA) have sparked increased recognition of cases across the globe. Whilst these patients tend to have a tumultuous course, much like sporadic CAA, there is a high degree of variability. What is unique in this case is the breadth of clinicoradiological data available, including handwritten surgical notes from 1985. In retrospect, early imaging changes of what would ultimately lead to profound morbidity, were apparent 30 years after inoculation with cadaveric dural tissue.
Aim:
In this case study we examine the clinicoradiological features of a case of probable iCAA and draw awareness to the presence of this disease in Australia.
Methods:
This case was admitted under the care of the author at the Royal Brisbane and Women's Hospital (RBWH). Clinical details and data were gathered during the patient's care and consent for publication provided by the enduring power of attorney.
Results:
This 56-year-old female presented in 2018 with left hemiparesis, neglect, and dysarthria secondary to a large right frontal lobe intracerebral hemorrhage (ICH) without an underlying macrovascular cause. MRI brain demonstrated diffuse superficial siderosis assumed related to previous surgical interventions during the mid-1980s for a Chiari malformation and cervical syrinx. There was evidence of extensive white matter disease, discordant with her lack of cerebrovascular disease risk factors. Brain biopsy confirmed CAA. Archived surgical notes confirmed exposure to Lyodura in 1985 and 1986. Two decades of MRI data were available for review and illustrate the evolution of CAA, from normal post-operative findings to marked and unrecognized abnormalities 4 years prior to her first ICH.
Discussion:
This is the first Australian case of probable iatrogenic CAA (iCAA) to have such extensive documentation of clinicoradiological evolution. It demonstrates the aggressive course iCAA can take and provides insights into early disease manifestations, relevant to the more common sporadic cases. A brief review of the history of commercial cadaveric tissue use in Australia highlights enormous changes in medical practice over the last 50 years. Awareness within Australia should be raised for this clinical phenomenon, and cases collated to contribute to the growing international pool of evidence.
Primary Subcutaneous Umbilical Endometriosis: Case Report and Review of the Literature
Authors: Lorenzo Capasso, Valerio Sciascia, Giuseppe Loiaco, Giovanni Guida, Francesco Iarrobino, Carmela Di Lillo, Salvatore Massa, Ferdinando Salzano de Luna
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

We report the case of a patient diagnosed with primary umbilical endometriosis intending to discuss the diagnostic and therapeutic management of this rare disease. A 45-year-old woman suffering from a painful swelling located in the umbilical region, with intact and normal cutaneous aspect, came to our attention. Ultrasonography of the umbilical region showed a nodule with a nonhomogeneous echotexture pattern. Partial omphalectomy was performed under local anesthesia in day care setting surgery. Histology confirmed the diagnosis of umbilical endometriosis. Pre- and postoperative clinical controls showed no evidence for other endometriosis localization. No medical treatment was administered. No signs of recurrence were observed after 5 years from surgery. A review of the literature of the last 10 years was generated based on MEDLINE research, selecting some specific keywords. Several lesions can occur in the umbilical region, and endometriosis has to be ruled out even in patients without any surgery in their medical history. Surgery is the gold standard treatment for this condition: partial and radical omphalectomy are the two treatment options. We believe that given the significant psychological and aesthetical value of the umbilicus, surgical treatment has to be tailored and in case of a small endometrial umbilical nodule, partial omphalectomy (local excision of the umbilical endometrial nodule) with a 3 mm free border, even without adjuvant hormonal treatment, could ensure adequate and effective treatment.
Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II
Authors: Maddalena Petraroli, Antonio Percesepe, Maria Piane, Francesca Ormitti, Eleonora Castellone, Margherita Gnocchi, Giulia Messina, Luca Bernardi, Viviana Dora Patianna, Susanna Maria Roberta Esposito, Maria Elisabeth Street
Journal: Front Endocrinol (Lausanne) (2023)
Keywords: mopdii, pcnt gene, bone dysplasia, cerebral aneurysms, growth, intellectual disability, microcephalic osteodysplastic primordial dwarfism, short stature
MeSH terms: Intracranial Aneurysm / complications, Kidney Diseases, Microcephaly / complications, Microcephaly / diagnosis, Microcephaly / genetics, Case Reports, Child, Humans, Kidney, Male, Mutation, pericentrin, Microcephalic Osteodysplastic Primordial Dwarfism, Type II

We report the case of a boy (aged 3 years and 7 months) with severe growth failure (length: -9.53 SDS; weight: -9.36 SDS), microcephaly, intellectual disability, distinctive craniofacial features, multiple skeletal anomalies, micropenis, cryptorchidism, generalized hypotonia, and tendon retraction. Abdominal US showed bilateral increased echogenicity of the kidneys, with poor corticomedullary differentiation, and a slightly enlarged liver with diffuse irregular echotexture. Initial MRI of the brain, performed at presentation, showed areas of gliosis with encephalomalacia and diffused hypo/delayed myelination, and a thinned appearance of the middle and anterior cerebral arteries. Genetic analysis evidenced a novel homozygous pathogenic variant of the pericentrin (PCNT) gene. PCNT is a structural protein expressed in the centrosome that plays a role in anchoring of protein complexes, regulation of the mitotic cycle, and cell proliferation. Loss-of-function variants of this gene are responsible for microcephalic osteodysplastic primordial dwarfism type II (MOPDII), a rare inherited autosomal recessive disorder. The boy died at 8 years of age as a result of an intracranial hemorrhage due to a cerebral aneurism associated with the Moyamoya malformation. In confirmation of previously published results, intracranial anomalies and kidney findings were evidenced very early in life. For this reason, we suggest including MRI of the brain with angiography as soon as possible after diagnosis in follow-up of MODPII, in order to identify and prevent complications related to vascular anomalies and multiorgan failure.
Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature review
Authors: Neza Molk, Mojca Bitenc, Darja Urlep, Mojca Zerjav Tansek, Sara Bertok, Katarina Trebusak Podkrajsek, Ursa Sustar, Jernej Kovac, Tadej Battelino, Marusa Debeljak, Urh Groselj
Journal: Front Med (Lausanne) (2023)
Keywords: apob, apob gene, familial hypobetalipoproteinemia, fatty liver, hypocholesterolemia, nonalcoholic steatohepatitis, pediatric, systematic review

Background:
Familial hypobetalipoproteinemia (FHBL) is an autosomal semi-dominant disorder usually caused by variants in the APOB gene that frequently interferes with protein length. Clinical manifestations include malabsorption, non-alcoholic fatty liver disease, low levels of lipid-soluble vitamins, and neurological, endocrine, and hematological dysfunction.
Methods:
Genomic DNA was isolated from the blood samples of the pediatric patient with hypocholesterolemia and his parents and brother. Next-generation sequencing (NGS) was performed, and an expanded dyslipidemia panel was employed for genetic analysis. In addition, a systematic review of the literature on FHBL heterozygous patients was performed.
Case report:
Genetic investigation revealed the presence of a heterozygous variant in the APOB (NM_000384.3) gene c.6624dup[=], which changes the open reading frame and leads to early termination of translation into the p.Leu2209IlefsTer5 protein (NP_000375.3). The identified variant was not previously reported. Familial segregation analysis confirmed the variant in the mother of the subject, who also has a low level of low-density lipoprotein and non-alcoholic fatty liver disease. We have introduced therapy that includes limiting fats in the diet and adding lipid-soluble vitamins E, A, K, and D and calcium carbonate. We reported 35 individuals with APOB gene variations linked to FHBL in the systematic review.
Conclusion:
We have identified a novel pathogenic variant in the APOB gene causing FHBL in pediatric patients with hypocholesterolemia and fatty liver disease. This case illustrates the importance of genetic testing for dyslipidemias in patients with significant decreases in plasma cholesterol as we can avoid damaging neurological and ophthalmological effects by sufficient vitamin supplementation and regular follow-ups.
Designing for culturally responsive social robots: An application of a participatory framework
Authors: Belinda Louie, Elin A Björling, Annie Camey Kuo, Patrícia Alves-Oliveira
Journal: Front Robot AI (2022)
Keywords: child-robot interaction, cultural responsiveness, educational robotics, english language learners, social robots

Integrating cultural responsiveness into the educational setting is essential to the success of multilingual students. As social robots present the potential to support multilingual children, it is imperative that the design of social robot embodiments and interactions are culturally responsive. This paper summarizes the current literature on educational robots in culturally diverse settings. We argue the use of the Culturally Localized User Experience (CLUE) Framework is essential to ensure cultural responsiveness in HRI design. We present three case studies illustrating the CLUE framework as a social robot design approach. The results of these studies suggest co-design provides multicultural learners an accessible, nonverbal context through which to provide design requirements and preferences. Furthermore, we demonstrate the importance of key stakeholders (students, parents, and teachers) as essential to ensure a culturally responsive robot. Finally, we reflect on our own work with culturally and linguistically diverse learners and propose three guiding principles for successfully engaging diverse learners as valuable cultural informants to ensure the future success of educational robots.
Case Report: A New Tool for Anterior Chest Wall Reconstruction After Sternal Resection for Primary Or Secondary Tumors
Authors: Duilio Divisi, Davide Tosi, Gino Zaccagna, Andrea De Vico, Cristina Diotti, Roberto Crisci
Journal: Front Surg (2021)
Keywords: ewing's sarcoma, sternal resection and reconstruction, sternectomy, thymoma, titanium mesh
MeSH terms: Case Reports

Sternal resection and anterior chest wall reconstruction techniques for malignant processes are not always standardized. We report an innovative method of sternal osteosynthesis in two patients, 65-year-old and 41-year-old women, with Ewing's sarcoma, and infiltrating thymoma, respectively. The first case manifested itself as a voluminous palpable mass while the second case was characterized for a paramediastinal mass widely extended to the anterior chest wall. Reconstruction with titanium mesh allowed the quick restoration of parietal stability, facilitating respiratory dynamic and recovery of patients.
Two Endotracheal Tubes in One Trachea with a Traumatic Injury
Authors: Andrew Winegarner, Harish Lecamwasam, Mark C Kendall, Shyamal Asher
Journal: Case Rep Anesthesiol (2021)
MeSH terms: Case Reports

Background:
Traumatic airway injuries often require improvising solutions to altered anatomy under strict time constraints. We describe here the use of two endotracheal tubes simultaneously in the trachea to facilitate securing an airway which has been severely compromised by a self-inflicted wound to the trachea. Case Presentation: A 71-year-old male presented with a self-inflicted incision to his neck, cutting deep into the trachea itself. An endotracheal tube was emergently placed through the self-inflicted hole in the trachea in the ED. The patient was bleeding profusely, severely somnolent, and desaturating upon arrival to the operating room. Preservation of the tenuous airway was a priority while seeking to establish a more secure one. A video laryngoscope was used to gain a wide view of the posterior oropharynx and assist with oral intubation using a fiberoptic scope loaded with a second endotracheal tube. The initial tube's cuff was deflated as the second tube was advanced over the fiberoptic scope, thereby securing the airway while a completion tracheostomy was performed.
Conclusions:
Direct penetrating airway trauma may necessitate early, albeit less secure, intubations though the neck wounds prior to operating room arrival. The conundrum is weighing the risk of losing a temporary airway while attempting to establish a more secure airway. Here, we demonstrate the versatility of common anesthesia tools such as a video laryngoscope and a fiberoptic bronchoscope and the welcome discovery of the trachea's ability to accommodate two endotracheal tubes simultaneously so as to ensure a patent airway at all points throughout resuscitation.
Locally Recurrent Leiomyoma of the Bladder Refractory to Visually Complete Transurethral Resection: An Indication for Cystoprostatectomy
Authors: Katharina Mitchell, John Barnard, Adam Luchey
Journal: Case Rep Urol (2019)
MeSH terms: Case Reports

Leiomyomas are benign smooth muscle tumors that have low malignant potential (0.1%) and can arise in nearly any area of the body. Genitourinary involvement is very rare and represents only 0.05% of all bladder tumors (Mendes et al., 2017; GÖK, 2017). The most common presenting symptoms of bladder leiomyomas are obstructive voiding (49%), irritative voiding (38%), and hematuria (11%) (Goluboff et al., 1994). Treatment involves complete excision, in this case transurethral resection (TUR), and generally results in complete cure with no recurrences noted in the 250 cases reported in the literature for open resection and 18% recurrence rates after TUR which were successfully treated with a repeat TUR in all cases. Herein, we report a case of leiomyoma of the bladder which was refractory to four visually complete transurethral resections and ultimately required radical cystoprostatectomy with ileal conduit urinary diversion.
Tocilizumab Was Effective in Repairing the Large Geode in a Patient with Rheumatoid Arthritis
Authors: Takuya Izumiyama, Yu Mori, Eiji Itoi
Journal: Case Rep Rheumatol (2020)
MeSH terms: Case Reports

Rheumatoid arthritis is characterized by multiple chronic arthritis subsequently inducing joint destruction. Although subchondral geode is a well-known feature of high-disease activity, a large geode is rare. Moreover, the treatment effect of biologic agents in the repair of large geode has not been reported. The present report shows the significant effect of interleukin-6 receptor blocker, tocilizumab, in repairing the large geode in the left humeral lateral epicondyle. This case implies that tocilizumab might be an effective treatment in patients with rheumatoid arthritis even with large geode.
Uterine tumours resembling ovarian sex cord tumours: a case report
Authors: Omar Aziz, John Giles, Simon Knowles
Journal: Cases J (2009)

Background:
Endometrial stromal tumours with sex-cord-like elements were first described by Clement and Scully in 1976. The recent World Health Organisation classification 2003 recognises low grade stromal sarcoma and undifferentiated endometrial sarcoma.
Case presentation:
A 62-year-old caucasian woman presented with recurrent postmenopausal bleeding. She underwent a diagnostic hysteroscopy which showed a large polyp on the posterior uterine wall. Polypectomy was performed and the histological report of the polyp showed a complex adenomatous lesion of uncertain malignant potential. She underwent a total abdominal hysterectomy and bilateral oophorectomy. The patient is asymptomatic at the time being, and is having annual check ups.
Conclusion:
Total abdominal hysterectomy and bilateral ovarian oophorectomy is the best approach at this stage.These tumours should be considered as having an uncertain but low likelihood of recurrence. It is acknowledged that no extra uterine spread or distant metastases have been reported thus far.
Groove pancreatitis-a great mimicker
Authors: Chakenahalli Nanjaraj, Biradar Basavaraj, Narayana Manupratap, Mysore Shashikumar, Narsipur Rajendrakumar, Mallaih PraveenKumar, Turamari Rashmi
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Groove pancreatitis is an uncommon form of chronic pancreatitis affecting the "groove" between the pancreatic head, duodenum and common bile duct. Many radiologists remain unfamiliar with this entity, with only a few descriptions of it existing in the radiology and pathology literature. The exact underlying cause of groove pancreatitis is unclear, although there are strong associations with peptic ulcer disease, smoking, long-term alcohol abuse, functional obstruction of the duct of Santorini and Brunner gland hyperplasia. This entity mimics pancreatic carcinoma and often ultimately leads to surgery. Hence it is important for radiologists to be familiar with imaging findings of groove pancreatitis to avoid diagnostic dilemma. Imaging findings in our case showed a soft tissue mass in the pancreaticoduodenal groove with enhancement, consistent with scar tissue and cystic changes within the lesion. It was associated with adjacent duodenal wall thickening with smooth and regular tapering of the pancreatic and common bile ducts.
New treatment insights into pancreatic acinar cell carcinoma: case report and literature review
Authors: Fangrui Zhao, Dashuai Yang, Tangpeng Xu, Jiahui He, Jin Guo, Xiangpan Li
Journal: Front Oncol (2023)
Keywords: antiangiogenic therapy, chemotherapy, immunotherapy, pancreatic acinar cell carcinoma, radiotherapy
MeSH terms: Review

Pancreatic acinar cell carcinoma (PACC) is a rare pancreatic malignancy with unique clinical, molecular, and morphologic features. The long-term survival of patients with PACC is substantially better than that of patients with ductal adenocarcinoma of the pancreas. Surgical resection is considered the first choice for treatment; however, there is no standard treatment option for patients with inoperable disease. The patient with metastatic PACC reported herein survived for more than 5 years with various treatments including chemotherapy, radiotherapy, antiangiogenic therapy and combined immunotherapy.
Genetic and Clinical Features of Medullary Thyroid Carcinoma: The Experience of a Single Center in Costa Rica
Authors: Javier Calvo, Gabriel Torrealba, Adriana Sáenz, Carlos Santamaría, Estela Morera, Silvia Alvarado, Yolanda Roa, Michelle González
Journal: J Cancer Epidemiol (2016)

Background. Activating mutations in the RET gene leads to medullary thyroid carcinoma (MTC). Guidelines encourage performing RET analysis in subjects with hereditary and sporadic disease. Materials and Methods. Design. Observational, case series report study. Patients. Subjects diagnosed with MTC, with a thyroidectomy performed in a single center in Costa Rica between the years 2006 and 2015. Diagnosis and Follow-Up. Pre- and postoperative calcitonin, RET mutation, and neck ultrasound and tomography were obtained. Results. 21 subjects with histological diagnosis of MTC were followed up. The average age at diagnosis was 52.0 ± 15.7 years. The preoperative mean value of calcitonin was 1340 ± 665 pg/mL. Evidence of RET mutation was found in 26.3% of the patients, with only 2 of them grouped in the same kindred. We found statistically significant differences in mean ages between mutated (38.4 ± 20.2 y) versus nonmutated RET gene (54.6 ± 11.8 y, p = 0.04). There were no significant differences regarding tumor size, metastases, and surgical reintervention. Conclusions. We report the results of RET mutation analysis in subjects with MTC in a single center of Costa Rica. The availability of this tool increases the probability of identifying familial MTC, with the benefit of detecting affected subjects and their relatives at an earlier age.
A case of typical carcinoid of the larynx
Authors: Shintaro Sato, Yuichiro Kuratomi, Fumio Yamasaki, Akira Inokuchi
Journal: Case Rep Otolaryngol (2012)
MeSH terms: Case Reports

We report herein a rare case of typical carcinoid occurring primarily in the epiglottis. The patient was a 70-year-old man. On initial examination, a polypoid lesion with irregular surface near the center right-hand side of the laryngeal surface of the epiglottis was observed, and a biopsy was performed. Pathological examination of the specimen suggested the possibility of adenocarcinoma. Surgical excision was performed by means of laryngomicrosurgery. A Weerda-type laryngoscope was used to open the larynx, supplemented by rigid nasal sinus surgery endoscopes, and the right-hand half of the epiglottis were excised was ensured using a CO(2) laser. Postoperative pathological diagnosis was negative for adenocarcinoma and squamous cell cancer; typical carcinoid was diagnosed according to the World Health Organization criteria. Aspiration occurred postoperatively, swallowing training was therefore provided, and the patient was discharged from hospital 2 months after surgery when he was able to eat normally. As of 4 years after surgery, the patient remains under follow-up observation by means of PET-CT and neck, thoracic, and abdominal CT administered at appropriate intervals, but no findings indicating obvious recurrence or metastasis have been observed, and the patient displays good swallowing function.