OpenMed/multicare-articles huggingface dataset:
Case report: Genomic screening for inherited cardiac conditions in Ecuadorian mestizo relatives: Improving familial diagnose
Authors: Santiago Cadena-Ullauri, Patricia Guevara-Ramirez, Viviana Ruiz-Pozo, Rafael Tamayo-Trujillo, Elius Paz-Cruz, Tatiana Sánchez Insuasty, Nieves Doménech, Adriana Alexandra Ibarra-Rodríguez, Ana Karina Zambrano
Journal: Front Cardiovasc Med (2022)
Keywords: ancestral, cardiovascular disease, case report, genetics, genomic
MeSH terms: Case Reports

Introduction:
Genomic screening is an informative and helpful tool for the clinical management of inherited conditions such as cardiac diseases. Cardiac-inherited diseases are a group of disorders affecting the heart, its system, function, and vasculature. Among the cardiac inherited abnormalities, one of the most common is Wolff-Parkinson-White syndrome. Similarly, hypertrophic cardiomyopathy is another common autosomal dominant inherited cardiac disease. Hypertrophic cardiomyopathy is associated with an increased incidence of Wolff-Parkinson-White syndrome; reports have suggested that it could be caused by a mutation in the protein-coding gene PRKAG2, which encodes a subunit of the AMP-activated protein kinase.
Case presentation:
A 37-year-old Ecuadorian male (Subject A) with familiar history of bradycardia, cardiac pacemaker implantation, and undiagnosed cardiac conditions began with episodes of tachycardia, dizziness, shortness of breath, and a feeling of fainting. He was diagnosed with hypertrophic myocardiopathy and Wolff Parkinson White preexcitation syndrome. Furthermore, his cousin's son, an 18-year-old Ecuadorian male (Subject B), started suffering from migraine and tachycardia at any time of the day. He was diagnosed with hypertrophic myocardiopathy; his electrocardiogram showed a systolic overload. Next-generation sequencing and ancestry analyses were performed. A c.905G>A p.(Arg302Gln) mutation in the gene PRKAG2 and a mainly European composition were identified in both subjects.
Conclusion:
Genetic testing is a valuable tool as it can provide important information regarding a disease, including its cause and consequences, not only for single individuals but to identify at-risk relatives. Furthermore, NGS results could guide the physician into targeted therapy. In the present case report, a missense pathogenic Arg302Gln mutation in the PRKAG2 gene has been identified in two related Ecuadorian Subjects diagnosed with hypertrophic myocardiopathy and Wolff-Parkinson-White. The variant has not been reported in Latin America; hence, this is the first report of the Arg302Gln mutation in the PRKAG2 gene in mestizo Ecuadorian subjects with mainly European ancestry components.
Hexa helix: modified quad helix appliance to correct anterior and posterior crossbites in mixed dentition
Authors: Syed Mohammed Yaseen, Ravindranath Acharya
Journal: Case Rep Dent (2012)

Among the commonly encountered dental irregularities which constitute developing malocclusion is the crossbite. During primary and mixed dentition phase, the crossbite is seen very often and if left untreated during these phases then a simple problem may be transformed into a more complex problem. Different techniques have been used to correct anterior and posterior crossbites in mixed dentition. This case report describes the use of hexa helix, a modified version of quad helix for the management of anterior crossbite and bilateral posterior crossbite in early mixed dentition. Correction was achieved within 15 weeks with no damage to the tooth or the marginal periodontal tissue. The procedure is a simple and effective method for treating anterior and bilateral posterior crossbites simultaneously.
Glomus tumor of the stomach: a rare cause of upper gastrointestinal bleeding
Authors: Enzo Fabrício Ribeiro Nascimento, Fábio Piovezan Fonte, Roberta Laís Mendonça, Ronaldo Nonose, Carlos Alberto Fonte de Souza, Carlos Augusto Real Martinez
Journal: Case Rep Surg (2011)
MeSH terms: Case Reports

Introduction. Glomus tumors (GTs) are benign neoplasm originating from the glomus body, commonly described in subungual region. The involvement abdominal is rare. Our aim is to describe a case of glomus tumor of the stomach that presented upper gastrointestinal bleeding. A 34-year-old woman was admitted with upper gastrointestinal bleeding and underwent an upper endoscopy that showed bleeding arising from an ulcerated lesion, treated by sclerosis therapy. A new endoscopy confirmed a submucosal lesion in upper portion of the stomach. During the laparotomy, a tumor at the upper anterior wall of gastric body was found and resected by a vertical gastrectomy. The pathological exam revealed hyperplastic smooth muscle fibers of the muscularis propria of the stomach wall, surrounded by hyaline stroma. The immunohistochemistry panel was positive for smooth muscle actin and type IV collagen, with low rate of mitosis studied by Ki-67 which allowed the final diagnosis of a gastric glomus tumor. Discussion. The majority of intraperitoneal glomus tumors occur in the stomach, and it is phenotypically similar to those localized in peripheral sites. Gastric GT generally is a benign tumor although it can be malignant and have the potential to metastasize. Conclusion. Even though gastric glomus tumor is rarely described, it should be considered as a possible cause of a major upper gastrointestinal bleeding.
Bevacizumab demonstrates prolonged disease stabilization in patients with heavily pretreated metastatic renal cell carcinoma: a case series and review of the literature
Authors: Nicole M Agostino, Rebecca Gingrich, Joseph J Drabick
Journal: Adv Urol (2010)
MeSH terms: Case Reports

There are now a variety of therapies approved for the treatment of metastatic renal cell carcinoma (RCC). These include the immunotherapeutics, alfa-interferon, and interleukin-2, and agents that target the vascular endothelial growth factor receptor (VEGFR) via its tyrosine kinase, such as sorafenib, sunitinib, and pazopanib, or the mammalian target of rapamycin (mTOR), such as temsirolimus and everolimus. Bevacizumab, a monoclonal antibody directed against the ligand, VEGF, has shown activity against RCC as a single agent in patients who had failed prior cytokine therapy and as first line therapy in combination with interferon. The activity of bevacizumab in patients who had received and failed prior therapy has not been described. We report our experience in 4 patients with metastatic RCC who had failed prior cytokine, TKI, and mTOR inhibitors who were treated with bevacizumab as single agent therapy. These heavily pretreated patients sustained very prolonged periods of stable disease (median of 12 months) with very little toxicity and excellent quality of life. The activity of this agent in patients who had failed prior therapies directed against the VEGFR and mTOR suggests that therapy targeting the ligand, VEGF, is still a viable approach in these patients and deserves further study.
COVID-19 and coinfection with Clostridioides (Clostridium) difficile in an infant with gastrointestinal manifestation
Authors: Jane Oba, Clovis Artur Silva, Ricardo Katsuya Toma, Werther Brunow de Carvalho, Artur Figueiredo Delgado
Journal: Einstein (Sao Paulo) (2020)
MeSH terms: COVID-19, Coinfection / epidemiology, Case Reports, Clostridioides, Clostridium, Female, Humans, Infant, SARS-CoV-2

We report the clinical case of an infant with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection with gastrointestinal signs and symptoms, predominantly vomiting. The patient also had colic, poor feeding, mild diarrhea and mild rhinorrhea without fever. The child had evidence of altered coagulation, increased interleukin 10, moderate dehydration and she was admitted to the pediatric intensive care unit. Simultaneously, the patient was diagnosed as Clostridioides difficile infection, which possibly may have facilitated the persistence of SARS-CoV-2 in feces, for more than 27 days, even after the nasopharyngeal test turned negative. This coinfection might exacerbate the gastrointestinal signs and symptoms and increased the possibility of fecal-oral transmission of SARS-CoV-2 and Clostridioides . The patient was breastfed and received complementary infant formula, hydrated with intravenous fluid, and was discharged without complications, 4 days after admission.
Foreign body in the bladder: A case report
Authors: Kota Shimokihara, Takashi Kawahara, Yutaro Hayashi, Sohgo Tsutsumi, Daiji Takamoto, Taku Mochizuki, Yusuke Hattori, Jun-Ichi Teranishi, Yasuhide Miyoshi, Yasushi Yumura, Masahiro Yao, Hiroji Uemura
Journal: Int J Surg Case Rep (2017)
Keywords: bladder, foreign body, higher bladder incision

Foreign bodies are occasionally reported in the bladder. In most cases, the foreign body is removed via the transurethral approach. A 57-year-old male patient was referred to our hospital to undergo the retrieval of a foreign body from his bladder. However, the foreign body had become severely calcified and could not be removed transurethrally. Thus, an open bladder wall incision was necessary to remove it. We herein report a case of a foreign body in the bladder that had become calcified and which was successfully removed using a higher bladder incision approach. A careful preoperative examination should be performed to detect the characteristics of the foreign body and avoid the risk of bladder wall perforation.
Triple-vessel percutaneous coronary revascularization in situs inversus dextrocardia
Authors: Nikolaos Kakouros, Sundip J Patel, Simon Redwood, Balvinder S Wasan
Journal: Cardiol Res Pract (2010)
MeSH terms: Case Reports

Dextrocardia with situs inversus occurs in approximately one in 10,000 individuals of whom 20% have primary ciliary dyskinesia inherited as an autosomal recessive trait. These patients have a high incidence of congenital cardiac disease but their risk of coronary artery disease is similar to that of the general population. We report what is, to our knowledge, the first case of total triple-vessel coronary revascularization by percutaneous stent implantation in a 79-year-old woman with situs inversus dextrocardia. We describe the successful use of standard diagnostic and interventional guide catheters with counter rotation and transversely inversed image acquisition techniques. The case also highlights that the right precordial pain may represent cardiac ischemia in this population.
Case Report: Surgical Therapy for Left Innominate Vein Aneurysm Under Thoracoscopy
Authors: Yan Hu, Siying Ren, Chao Zeng, Jina Li, Min Zou, Li Wang, Peng Xiao, Fenglei Yu, Wenliang Liu
Journal: Front Surg (2021)
Keywords: castleman's disease, left innominate vein aneurysm, surgery, thoracoscopy, thymoma
MeSH terms: Case Reports

Left innominate vein aneurysm is extremely rare, with a limited number of case reports present in the literature. Herein, we report a case of a 50-year-old female patient presenting with an incidental finding of an anterior mediastinal mass on chest radiography during a routine health examination. Contrast-enhanced computerized tomography (CT) of the chest showed a 4.8 × 4.6 cm anterior mediastinal mass with significant homogenous enhancement after injection of the contrast medium, suggesting a diagnosis of Castleman's disease, but not excluding thymoma. The patient underwent surgical resection of the anterior mediastinal mass under a thoracoscopic approach. Postoperative pathology confirmed the diagnosis of a left innominate vein aneurysm. This is the first case reporting a left innominate vein aneurysm resected under thoracoscopy. Despite this successful treatment experience, we need to emphasize that open thoracotomy or median sternotomy should be chosen as the first choice for surgeons who lack experience in thoracoscopic surgery, with the aim of avoiding intraoperative accidents.
Recurrent Hodgkin's Disease Presenting as a Clinically Isolated Cavernous Sinus Syndrome
Authors: Aayesha Jalaluddin Soni, Edward Bernard Lee-Pan
Journal: Case Rep Neurol Med (2021)
MeSH terms: Case Reports

Background:
Hodgkin's disease involving the central nervous system is uncommon and is usually seen in patients with uncontrolled systemic disease or those who have had multiple episodes of recurrent disease. Common symptoms of intracranial Hodgkin's disease are motor and/or sensory deficits, headache, papilloedema, coma, and seizures. The rarity of Hodgkin's disease presenting with intracranial involvement is marked, but patients presenting with cavernous sinus syndrome is even rarer. Despite its rarity, the presence of a cavernous sinus syndrome in a patient with a known history of Hodgkin's disease warrants full utilization of modern diagnostic techniques in terms of investigation. Case Presentation. A 34-year-old woman, known with previous Hodgkin's lymphoma and now in remission for the past 7 years, presented with signs and symptoms suggestive of a left cavernous sinus syndrome. She was otherwise systemically well with no other complaints. Extensive investigations revealed no obvious cause for the cavernous sinus syndrome. A CT chest revealed subclinical axillary lymphadenopathy, which on excisional biopsy confirmed recurrent Hodgkin's disease. The patient's sole clinical presentation of her recurrent disease was the cavernous sinus syndrome, with no other clinically obvious systemic signs or symptoms to suggest a relapse. This was treated with steroids, and clinical improvement was noted; she was referred to oncology for extensive chemotherapy.
Conclusions:
Whilst there is a paucity of literature around this topic, it must be remembered by the clinician that cavernous sinus syndrome may be the sole clinical presentation of recurrent Hodgkin's disease. Even though it is reported that lymphomatous involvement in the brain usually occurs late in the disease process, this case is evidence that cavernous sinus syndrome may precede other systemic signs and symptoms. Recognising this possibility will ensure a rigorous search for Hodgkin's disease, an early and effective diagnosis, and a better prognosis in affected patients.
Accidental Pyrethroid Ingestion in Toddler: Near-Fatal Atypical Presentation and Successful Recovery
Authors: Marco Pallavidino, Diego Arango Uribe, Subashini Baskaran, Aqdas Saqib, Mohamed Elmesserey, Ahmed Onsy, Emad M Fathi, Christoph Fink, Anil Kumar H Ramaiah
Journal: Front Pediatr (2020)
Keywords: children, ingestion, intoxication, pyrethroid, transfluthrin
MeSH terms: Case Reports

We are reporting a case of pyrethroid poisoning with atypical presentation in a 21-month-old toddler who was transferred to us from a peripheral center. Signs and symptoms at presentation were predominantly of cardiopulmonary dysfunction contrary to more common presenting features of gastrointestinal and neurological impairment. The reason for this seems to be the aspiration pneumonitis as a consequence of vomiting induced by parents at home, rather than the toxin itself even though a rather rapid progression of lung injury does not rule out the possibility. He had developed decreased level of consciousness and increased work of breathing after ingestion, which had progressed to Acute Respiratory Distress Syndrome, septic shock, and multi organ failure. He even had a brief cardiac arrest with Return of Spontaneous Circulation after 5 min of cardiopulmonary resuscitation, immediately after arrival at our unit, which seemed more likely to be a consequence of inappropriate management during transfer of the child. In addition to antibiotics and vasopressors, he required high frequency oscillatory ventilation and prone positioning initially, and lung-protective conventional ventilation later. His cardiopulmonary status improved gradually and he was successfully extubated after 12 days. Other organ systems also showed complete recovery. Even though Magnetic Resonance Imaging of brain done a few days after cardiac arrest showed features suggestive of hypoxic-ischemic encephalopathy he showed complete neurological recovery. He was thriving well at three-month follow-up with no neurological deficits, good exercise tolerance, and normal renal and liver function. Atypical presentation of pyrethroid poisoning is associated with significant morbidities and there seems to no reliable parameters in children to identify the risk of the same. Considering that there is no specific antidote, prompt, and aggressive supportive therapy is necessary for a favorable outcome. This case highlights several important aspects in the care of the pediatric patient after ingestion of insecticides. First, attempt to induce emesis, especially outside of a healthcare facility is not only ineffective but also highly dangerous, and should not be done. Second, unstable patients require inter and intrahospital transfer by experienced and trained personnel; and lastly, management for these complex and atypical cases should be done as early as possible in a center which is equipped to provide high level of circulatory and ventilatory support while prioritizing neuro-protective measures, and neurologic recovery and rehabilitation.
16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance
Authors: Mingran Sun, Han Zhang, Guiying Li, Xianfu Wang, Xianglan Lu, Andrea Sternenberger, Carrie Guy, Wenfu Li, Jiyun Lee, Lei Zheng, Shibo Li
Journal: Mol Cytogenet (2014)
Keywords: 16p133, array cgh, fish, pierre robin sequence, small supernumerary marker chromosome
MeSH terms: Case Reports

Background:
Pierre Robin sequence (PRS) is a condition present at birth. It is characterized by micrognathia, cleft palate, upper airway obstruction, and feeding problems. Multiple etiologies including genetic defects have been documented in patients with syndromic, non-syndromic, and isolated PRS.
Case presentation:
We report a 4-year-old boy with a complex small supernumerary marker chromosome (sSMC) who had non-syndromic Pierre Robin sequence (PRS). The complex marker chromosome, der(14)t(14;16)(q11.2;p13.13), was initially identified by routine chromosomal analysis and subsequently characterized by array-comparative genomic hybridization (array CGH) and confirmed by fluorescence in situ hybridization (FISH). Clinical manifestations included micrognathia, U-type cleft palate, bilateral congenital ptosis, upslanted and small eyes, bilateral inguinal hernias, umbilical hernia, bilateral clubfoot, and short fingers and toes. To our best knowledge, this was the first case diagnosed with non-syndromic PRS associated with a complex sSMC, which involved a 3.8 Mb gain in the 14q11.2 region and an 11.8 Mb gain in the 16p13.13-pter region.
Conclusions:
We suggest that the duplicated chromosome segment 16p13.3 possibly may be responsible for the phenotypes of our case and also may be a candidate locus of non-syndromic PRS. The duplicated CREBBP gene within chromosome 16p13.3 is associated with incomplete penetrance regarding the mandible development anomalies. Further studies of similar cases are needed to support our findings.
Case Report: A Case With Philadelphia Chromosome Positive T-Cell Lymphoblastic Lymphoma and a Review of Literature
Authors: Xuewei Li, Nana Ping, Yong Wang, Xiaoyu Xu, Lijuan Gao, Zhao Zeng, Ling Zhang, Zhibo Zhang, Yiyu Xie, Changgeng Ruan, Depei Wu, Zhengming Jin, Suning Chen
Journal: Front Oncol (2021)
Keywords: philadelphia chromosome, t-cell lymphoblastic lymphoma, clinical characteristics, managements, prognosis
MeSH terms: Case Reports

Philadelphia chromosome positive (Ph+) in T-lineage acute lymphoproliferative tumors is a rare event in both children and adults. In particular, it has not been reported in T-cell lymphoblastic lymphoma(T-LBL) yet. Here, we describe a patient with Ph+ T-LBL for both cytogenetic abnormality and BCR-ABL1 fusion transcript. Moreover, we review the published cases of Ph+ T-cell acute lymphoblastic leukemia (T-ALL) in the literature and summarize their clinical characteristics, management, and prognosis.
A rare case of incidental finding of GIST during sleeve gastrectomy: Case report
Authors: Kusay Ayoub, Aghyad Kudra Danial, Ahmad Sankari Tarabishi, Baraa Shebli, Mohammed Yasser Halwani, Nihad Mahli
Journal: Int J Surg Case Rep (2019)
Keywords: bariatric surgery

Introduction:
Gastrointestinal stromal tumors (GISTs) is the term used to describe rare stromal neoplasms that are located in the gastrointestinal tract, it most commonly arises in the stomach. GIST is usually asymptomatic and discovered incidentally by Computed Tomography (CT) or Endoscopy.
Presentation of case:
We report a case of incidental finding of GIST during Sleeve gastrectomy in a 56 year-old female that presented with a complaint of sever obesity and articular pain in lower limbs. The tumor was not compromising the performance of a save vertical gastric resection, so the resection was done and a mass specimen was sent for pathological examination that confirmed Gist with a low grade of malignancy.
Discussion and conclusion:
As a conclusion, we recommend keeping in mind incidental finding of GIST during abdominal surgeries and especially Sleeve gastrectomy, in order to detect this tumor as earlier as possible and have a good prognosis with a low chance for recurrence.
Secondary Chondrosarcoma Presenting with Symptoms Similar to Thoracic Outlet Syndrome
Authors: Hiroshi Kobayashi, Masachika Ikegami, Tetsuo Ushiku, Masaki Anraku, Takahiro Ohki, Yusuke Shinoda, Sakae Tanaka, Hirotaka Kawano
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Thoracic outlet syndrome (TOS) is caused by heterogeneous factors that compress the brachial plexus and subclavian artery; tumor is rarely a cause of TOS. Here, we present the case of a 26-year-old man with secondary chondrosarcoma arising from osteochondroma of the left clavicle causing TOS, with a direct compression of the brachial plexus and subclavian artery. Immediately after surgery, the symptoms of TOS reduced. To our knowledge, this is the first case of a secondary chondrosarcoma of the clavicle causing TOS, which is possibly the key symptom for diagnosing malignant transformation of osteochondroma of the clavicle.
Severe aseptic orbital cellulitis with subtenon carboplatin for intraocular retinoblastoma
Authors: Parag K Shah, N Kalpana, V Narendran, Minu Ramakrishnan
Journal: Indian J Ophthalmol (2011)
MeSH terms: Antineoplastic Agents / administration & dosage, Antineoplastic Agents / adverse effects, Carboplatin / adverse effects, Orbital Cellulitis / chemically induced, Retinal Neoplasms / drug therapy, Retinoblastoma / drug therapy, Case Reports, Carboplatin / administration & dosage, Catheters, Female, Humans, Infant, Injections, Intraocular / instrumentation, Orbital Cellulitis / diagnosis, Orbital Cellulitis / physiopathology, Photography, Severity of Illness Index, Tenon Capsule, Ultrasonography, Antineoplastic Agents, Carboplatin

Retinoblastoma is a rare intraocular tumor of childhood. Chemoreduction followed by laser or cryotherapy is the treatment of choice. Subtenon carboplatin injection is also an accepted treatment modality for vitreous seeds, along with systemic chemotherapy. Transient periocular edema, optic neuropathy and fibrosis of orbital tissues are the known side effects of subteneon carboplatin injection. We report a case of severe aseptic orbital cellulitis with necrosis and prolapse of the conjunctiva 48 h after the injection, which resolved well on only conservative management.