OpenMed/multicare-articles huggingface dataset:
Durable Response to the Combination of Atezolizumab With Platinum-Based Chemotherapy in an Untreated Non-Smoking Lung Adenocarcinoma Patient With BRAF V600E Mutation: A Case Report
Authors: Xiaomin Niu, Yingjia Sun, David Planchard, Luting Chiu, Jian Bai, Xinghao Ai, Shun Lu
Journal: Front Oncol (2021)
Keywords: braf inhibitor, immunotherapy, non-small cell lung cancer, programmed death ligand-1, proto-oncogene protein b-raf
MeSH terms: Case Reports

Background:
Immune checkpoint inhibitor (ICPi) has become a major treatment in advanced non-small cell lung cancer (NSCLC) and demonstrated a clinical benefit for NSCLC patients with high programmed death ligand-1 (PD-L1) expression without EGFR/ALK/ROS1 drivers; however, the benefit in BRAF V600E NSCLC is so far unknown. Here, we report a case of prolonged tumor response to the combination of immunotherapy with chemotherapy in a non-smoking BRAF V600E NSCLC patient.
Materials and methods:
We verify a co-expression of BRAF V600E mutation and PD-L1 high expression more than 50% on formalin-fixed paraffin-embedded tumor sample of a newly diagnosed lung adenocarcinoma patient by immunohistochemistry and BRAF V600E/EGFR/ALK/ROS1 Mutations Detection Kit. The tissue and liquid biopsies were further subjected to next-generation sequencing (NGS) for identification of mutations with progression on immunotherapy and BRAF inhibitor (BRAFi). The patient had provided written informed consent and authorized the publication of clinical case.
Results:
We demonstrate the case of 62-year-old female non-smoker with high PD-L1 expression and BRAF V600E mutated NSCLC. The progression-free survival (PFS) of first-line combination of atezolizumab with platinum-based chemotherapy and sequential second-line treatment with BRAFi Vemurafenib are 20 and 5.5 months, respectively.
Conclusion:
This case shows a durable response to ICPi in BRAF V600E non-smoking lung adenocarcinoma with PFS of 20 months under first-line atezolizumab plus chemotherapy treatment. The case supports the idea that the combination immunotherapy may be an attractive option for BRAF V600E mutated non-smoking NSCLC with high PD-L1 expression.
Superinfection of a Dead Hepatic Echinococcal Cyst with a Cutaneous Fistulization
Authors: Giuseppe Cicero, Alfredo Blandino, Giorgio Ascenti, Tommaso D'Angelo, Luciano Frosina, Carmela Visalli, Ignazio Salamone, Maria Adele Marino, Marco Cavallaro, Silvio Mazziotti
Journal: Case Rep Radiol (2017)
MeSH terms: Case Reports

Cystic echinococcosis (CE), also known as "hydatid disease" (HD), is a zoonotic infection caused by the larval stage of Echinococcus granulosus, which infects humans as intermediate hosts through the orofecal route. Carried by the intestinal venous blood, the embryos released by the eggs of the tapeworms can reach every organ, especially the liver, turning into a hydatid cyst. Usually asymptomatic, the cysts can be incidentally detected through radiological examinations performed for other reasons. We show an unusual case of superinfection of a hydatid cyst with typical radiological features of inactivity (WHO-type CE5) with an even rarer skin fistulization passing through a subcutaneous-abdominal abscess involving the right iliac muscle.
Case Report: A Rare Heterozygous ATP8B1 Mutation in a BRIC1 Patient: Haploinsufficiency?
Authors: Hao Bing, Yi-Ling Li, Dan Li, Chen Zhang, Bing Chang
Journal: Front Med (Lausanne) (2022)
Keywords: atp8b1, benign recurrent intrahepatic cholestasis, cholestasis, haploinsufficiency, targeted therapy
MeSH terms: Case Reports

Benign recurrent intrahepatic cholestasis (BRIC) is an autosomal recessive disorder characterized by recurrent cholestasis. ATPase class I, type 8B, member 1 (ATP8B1) encodes familial intrahepatic cholestasis 1 (FIC1), which acts as a phosphatidylserine reversing enzyme in the tubule membrane of hepatocytes to mediate the inward translocation of phosphatidylserine (PS). At present, dozens of ATP8B1 pathogenic mutations have been identified that mainly cause BRIC1 and progressive familial intrahepatic cholestasis 1 (PFIC1). The diagnosis of BRIC1 is based on symptoms, laboratory tests, imaging, liver histology, and genetic testing. BRIC1 treatment seeks to prevent recurrence and reduce disease severity. At present, the main treatment methods include ursodeoxycholic acid (UDCA), rifampin, cholestyramine and haemofiltration, and endoscopic nasobiliary drainage (ENBD). Here, we report a 17-year-old patient with cholestasis who has a rare heterozygous ATP8B1 gene mutation (p.T888K). The patient was treated with UDCA, glucocorticoids and haemofiltration, after which bilirubin levels gradually returned to normal. This case was thought to be caused by an ATP8B1 heterozygous mutation, which may be related to haploinsufficiency (HI).
Case report: Pediatric floating elbow fracture with monteggia-equivalent lesion, ipsilateral humeral shaft fracture, and radial nerve injury: a unique case and favorable treatment outcomes
Authors: Li Ju, Mengqiu Xu, Gang Lin
Journal: Front Pediatr (2023)
Keywords: avascular necrosis of the radial head, elastic intramedullary nailing, monteggia-equivalent lesion, pediatric floating elbow, radial nerve injury
MeSH terms: Case Reports

This case report presents a rare and intricate pediatric floating elbow fracture involving a Monteggia-equivalent fracture, ipsilateral humeral shaft fracture, and radial nerve injury. The unique mechanism of injury highlights the importance of increased awareness and parental education for accident prevention. Elastic intramedullary nailing was employed for both humeral shaft and forearm fractures, leading to favorable outcomes. Despite the severity of the fractures and radial nerve injury, the prognosis was positive, with nerve function restoration and satisfactory functional recovery. However, the development of avascular necrosis of the radial head remains a challenge, emphasizing the need for further research to better understand and manage these uncommon and complex injuries.
Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15
Authors: Stuti Tewari, Naznin Lubna, Raju Shah, Ahmed B H Al-Rikabi, Krati Shah, Jayesh Sheth, Frenny Sheth
Journal: Mol Cytogenet (2017)
Keywords: array-comparative genomic hybridization (acgh), duplication/deletion, igf-1r gene, microcephaly, ring chromosome 15
MeSH terms: Case Reports

Background:
Ring chromosome 15 is a rare genetic entity. Only a few cases have been reported with characterization using molecular techniques. The clinical presentation is quite variable, as a result of differences in the breakpoints, haploinsufficiency of genes involved in deleted segment/s, level of mosaicism and ring instability resulting in a variability of rearrangement of genetic material.
Case presentation:
The proband, a 2 months old boy, presented with small head size and facial dysmorphism. On examination microcephaly, triangular face, small anterior frontanelle, micrognathia, hypotonia, unilateral simian crease, hypertelorism, umbilical hernia, micropenis with mild phimosis were noted. Karyotype revealed 46,XY,r(15)(p11.2q26). Array-comparative genomic hybridization (aCGH) and targeted gene sequencing for microcephaly was carried out for genotype phenotype correlation. Array-CGH detected a 2.8 Mb terminal deletion at 15q26.3 along with a 496 kb interstitial micro-duplication, encompassing the IGF1R gene, in the affected genomic region, which was otherwise missed on conventional karyotype.
Conclusion:
The present study highlights the importance of aCGH in not only delineating specific phenotypes through accurate genotypic correlation but also in detection and evaluation of ring chromosome with unexpected complex rearrangements.
Dizygotic Dichorionic Triamniotic Triplet Pregnancy Delivered at Full Term: An Out of Box Presentation of Triplet-A Case Report from Ethiopia
Authors: Melese Gezahegn Tesemma, Mikiyas Tadesse Yadeta
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

The incidence of triplet is raising several hundred percent due to wide availability of fertility therapies. It is associated with different perinatal and maternal complications. The average duration of gestation and birth weight for triplet are 32.5 weeks and 1735 grams (total weight of triplet set being about 5.2kg), respectively. However, it is not uncommon to find the rarest situations in obstetrics. Here we present a case of triplet set born from gravida 5 para 4 mother at full term (GA of 39 weeks and 3 days), dated from reliable last normal menstrual period (LNMP). Each triplet has weight comparable to average weight of singleton at term. Triplets A, B, and C weigh 2.8 kg, 3 kg, and 3.2 kg, respectively. The triplet set weigh 9 kg in aggregate. Surprisingly the neonates have no perinatal complication, but the mother developed postpartum hemorrhage secondary to uterine atony. All individual triplets are large for gestational age on adjusted fetal weight standard of triplet from singleton's growth curve. Such type of triplet outcome is unique in its presentation and has never been reported in scientific literature as to the knowledge of the authors. Thus, we can consider it as "an out of box presentation of triplet". This initiates us to report the case.
Case Report: Reconstruction of a Large Maxillary Defect With an Engineered, Vascularized, Prefabricated Bone Graft
Authors: Tarek Ismail, Alexander Haumer, Alexander Lunger, Rik Osinga, Alexandre Kaempfen, Franziska Saxer, Anke Wixmerten, Sylvie Miot, Florian Thieringer, Joerg Beinemann, Christoph Kunz, Claude Jaquiéry, Thomas Weikert, Felix Kaul, Arnaud Scherberich, Dirk J Schaefer, Ivan Martin
Journal: Front Oncol (2021)
Keywords: bone–soft tissue interface, complex 3d bone defect, graft prefabrication, regenerative surgery, vascularized composite graft
MeSH terms: Case Reports

The reconstruction of complex midface defects is a challenging clinical scenario considering the high anatomical, functional, and aesthetic requirements. In this study, we proposed a surgical treatment to achieve improved oral rehabilitation and anatomical and functional reconstruction of a complex defect of the maxilla with a vascularized, engineered composite graft. The patient was a 39-year-old female, postoperative after left hemimaxillectomy for ameloblastic carcinoma in 2010 and tumor-free at the 5-year oncological follow-up. The left hemimaxillary defect was restored in a two-step approach. First, a composite graft was ectopically engineered using autologous stromal vascular fraction (SVF) cells seeded on an allogenic devitalized bone matrix. The resulting construct was further loaded with bone morphogenic protein-2 (BMP-2), wrapped within the latissimus dorsi muscle, and pedicled with an arteriovenous (AV) bundle. Subsequently, the prefabricated graft was orthotopically transferred into the defect site and revascularized through microvascular surgical techniques. The prefabricated graft contained vascularized bone tissue embedded within muscular tissue. Despite unexpected resorption, its orthotopic transfer enabled restoration of the orbital floor, separation of the oral and nasal cavities, and midface symmetry and allowed the patient to return to normal diet as well as to restore normal speech and swallowing function. These results remained stable for the entire follow-up period of 2 years. This clinical case demonstrates the safety and the feasibility of composite graft engineering for the treatment of complex maxillary defects. As compared to the current gold standard of autologous tissue transfer, this patient's benefits included decreased donor site morbidity and improved oral rehabilitation. Bone resorption of the construct at the ectopic prefabrication site still needs to be further addressed to preserve the designed graft size and shape.
Painful Times: The Emergence and Campaigning of Parents Against Injustice in 1980s Britain
Authors: Jennifer Crane
Journal: 20 Century Br Hist (2015)
MeSH terms: Child Abuse / history, Criminal Law / history, Parents, Societies / history, Historical Article, Research Support, Non-U.S. Gov't, Child, Child Abuse / legislation & jurisprudence, Deception, History, 20th Century, Humans, United Kingdom

In July 1985 Steve and Susan Amphlett established Parents Against Injustice (PAIN) to support and represent parents falsely accused of child abuse. The Amphletts ran the organization from their own home, and struggled to gain funding, before closing PAIN in 1999. PAIN was to an extent a reflection of the 'new politics' of identity and lifestyle, concurrent with the rise of New Social Movements, as falsely accused parents utilized communication technologies to make their experiences public, and to contact and support one another. At the same time, PAIN also sought to exert political influence through relatively traditional channels--contributing to public inquiries, encouraging their membership to write letters to Members of Parliament, and shaping media critique. Despite its small size, PAIN was able to act as an intermediary between parents and politicians, social workers, solicitors and physicians. PAIN represented, but also collated and shaped, parents' experiences. The case study of PAIN suggests that small groups have been able to mediate between 'public' and 'experts', effectively working with both groups because of their ability to combine experience and professionalism. These groups have brought experiential knowledge into social policy, and more broadly shifted the roles and responsibilities accorded to children, families and parents.
Acromioclavicular Septic Arthritis Caused by Veillonella parvula
Authors: Marc Prod'homme, Gilles Pfander, Patricia Pavese, Alexandre Cech, Islam Abouelnaga, Lionel Helfer
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

We hereby report the case of a primary acromioclavicular septic arthritis caused by Veillonella parvula. This bacteria is rare as a pathogen but is well known as a commensal of the lungs, vagina, mouth, and gastrointestinal tract of humans. However, it may turn as an opportunistic pathogen. It was isolated in blood culture and confirmed in biopsy specimen. The patient had complete recovery after surgical washout with second look at postoperative day two and targeted antibiotic treatment.
Short-term bisphosphonate therapy could ameliorate osteonecrosis: a complication in childhood hematologic malignancies
Authors: N A Greggio, M Pillon, E Varotto, A Zanin, E Talenti, A C Palozzo, E Calore, C Messina
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Osteonecrosis (ON) is a critical complication in the treatment of childhood leukemia and lymphoma. It particularly affects survivors of acute lymphoblastic leukemia and non-Hodgkin lymphoma reflecting the cumulative exposure to glucocorticosteroid therapy. ON is often multiarticular and bilateral, specially affecting weight-bearing joints. A conventional approach suggests a surgical intervention even if pharmacological options have also recently been investigated. We reported two cases of long time steroid-treated patients who underwent Bone Marrow Transplantation (BMT) for hematological disease. Both patients developed femoral head osteonecrosis (ON) that was diagnosed by magnetic resonance imaging (MRI) and the ON was also accompanied with pain and a limp. Despite of the conventional strategies of therapy, we successfully started a short-term treatment with bisphosphonates in order to decrease the pain and the risk of fracture.
Case Reports That Illustrate the Efficacy of SGLT2 Inhibitors in the Type 1 Diabetic Patient
Authors: David S H Bell
Journal: Case Rep Endocrinol (2015)

SGLT2 inhibitors are only approved for use in adults with type 2 diabetes. However, because SGLT2 inhibitors have a mechanism of action that does not require the presence of endogenous insulin, these drugs should also be efficacious in type 1 diabetes where endogenous insulin production is greatly reduced or absent. Herein, I present five cases which illustrate the benefits of utilizing an SGLT2 inhibitor with type 1 diabetes. In these cases the use of SGLT2 inhibitors resulted not only in better glycemic control in most patients but also in some patients' less hypoglycemia, weight loss, and decreased doses of insulin. In type 1 diabetes Candida albicans vaginitis and balanitis may occur more frequently than in type 2 diabetes. These cases show that a large randomized clinical trial of SGLT2 inhibitors in type 1 diabetes needs to be performed.
Massive Lipomatosis of the Small Intestine Causing Intussusception
Authors: Michael Pagacz, Irvin Willis, John Alexis
Journal: Case Rep Gastrointest Med (2019)
MeSH terms: Case Reports

Lipomatosis is a rare condition characterized by diffuse, unencapsulted adipose tissue deposition. Intestinal involvement is rare, and presentation as intussusception is rarer still. We report a 40-year-old man who presented with abdominal pain and fecal urgency. Abdominal CT scan showed a protuberant ileo-cecal valve, with intussusception of the ileum into the cecum. The mucosal surface of the resected bowel was bulbous and protuberant, showing loss of mucosal folds, and there was an 8 × 5 × 5 cm mass prolapsing into the ileo-cecal valve. Microscopically there was abundant adipose tissue in the submucosa with an unremarkable mucosa. The patient recovered uneventfully with only occasional cramping in the left abdomen.
Traumatic Craniocervical Dissociation in Patients with Congenital Assimilation of the Atlas to the Occiput
Authors: Celeste Tavolaro, Hector Pulido, Richard Bransford, Carlo Bellabarba
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

Traumatic atlantooccipital dissociation (AOD) is a severe and usually fatal injury. Patients with assimilation of the atlas to the skull are exposed to a higher risk of injury and delay diagnosis due to the abnormal anatomy. We report two cases of acute traumatic craniocervical dislocation in patients with baseline congenital assimilation of the atlas to the skull. Computer tomography (CT) was used to identify the injury. Computer tomography angiography (CTA) showed variations of the vertebral arteries' location on both patients. Assimilation of the atlas was complete in patient one and partial in patient two. Emergent surgical instrumentation and fusion were performed with a very careful and meticulous posterior dissection. As general rule, most of the patients with CCD will undergo occiput to C2 posterior segmental instrumentation and fusion. In the presented cases, a more extensive fusion was necessary based on the type and severity of the CCJ injury and the anatomical anomalies associated. Postoperatively, patient one remained neurologically intact and patient two died. Alternative fixation techniques should be used to minimize risk of VA injury during the surgical procedures.
Efficacy of high-dose anakinra in refractory macrophage activation syndrome in adult-onset Still's disease: when dosage matters in overcoming secondary therapy resistance
Authors: Sofia Ajeganova, Ann De Becker, Rik Schots
Journal: Ther Adv Musculoskelet Dis (2020)
Keywords: adult-onset still’s disease, anakinra, macrophage activation syndrome
MeSH terms: Case Reports

Macrophage activation syndrome (MAS) is a severe, potentially fatal complication of rheumatic diseases. This case demonstrates the significant challenges and therapeutic considerations in adult-onset Still's disease (AOSD) complicated with MAS at initial presentation, which will be discussed. MAS in our patient was refractory to the first-line therapy with high-dose corticosteroids, early administration of anakinra at a standard dosage and subsequent add-on treatments with cyclosporine A, IVIG, etoposides and tocilizumab. At 2 months after presentation, the patient was still critically ill with clinical, laboratory and histological signs of an active uncontrolled MAS. Notably, adoption of anakinra at a high dosage finally induced remission. This case confirms that adjusted dosage of anakinra is an effective therapeutic strategy in a severe AOSD-related MAS. It is tempting to speculate that anakinra at a high dosage, if used earlier, would have significantly changed the course of the disease in our patient and could have led to earlier remission.
Thoracic Empyema as Rare Complication of an Appendicular Mass: A Case Study and Review of the Literature
Authors: George Vasquez-Rios, Lesly Calixto-Aguilar, Richard Pajuelo, Wilder Alarcon
Journal: Case Rep Pediatr (2018)
MeSH terms: Case Reports

Introduction:
Thoracic empyema is an infrequent complication of appendicitis that has rarely been reported in the literature.
Case presentation and review of the literature:
The case of a 11-year-old boy who was admitted for medical management of an appendicular mass is presented. His clinical course was complicated by the development of an appendicular abscess and an extensive right-sided empyema. A comprehensive review of the literature was conducted including the most representative cases. The data were collected and analyzed by two independent investigators. Ten cases were found. Most patients were young individuals (mean age: 25.1 years; male : female ratio: 0.5). Risk factors for thoracic empyema included pregnancy (10%) and age (60%). The most frequent organisms isolated were Escherichia coli, Bacteroides spp., and Klebsiella spp. The survival rate was 100%.
Conclusion:
Thoracic empyema should be considered a potential cause of respiratory distress in patients with appendicitis. Furthermore, the abdomen should be carefully evaluated as a source of infection in patients with thoracic empyema without an underlying lung disease.
Vesicoureteral Reflux, a Scarred kidney, and Minimal Proteinuria: An Unusual Cause of Adult Secondary Hypertension
Authors: Shaifali Sandal, Apurv Khanna
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Hypertension affects about 65 million individuals in the United States. In adult patients, primary aldosteronism and renovascular causes are described as most prevalent. Vesicoureteral reflux as a cause of hypertension, while commonly described in pediatric populations, is less prevalent in the adult population especially in the absence of proteinuria. We present the case of a 31-year-old female presenting with early onset hypertension. Workup for renovascular hypertension was unrevealing. She was found to have right-sided vesicoureteral reflux with a unilateral scarred kidney. Patient underwent a nephrectomy with marked improvement in blood pressure control.