OpenMed/multicare-articles huggingface dataset:
Thyroglossal Duct Carcinoma Originating in the Hyoid Bone
Authors: Naoki Kunitomo, Hiroyuki Fujii, Akifumi Fujita, Yumiko Hamano, Minako Takanosawa, Hideharu Sugimoto
Journal: Case Rep Radiol (2019)
MeSH terms: Case Reports

Thyroglossal duct (TGD) carcinoma is a rare malignant tumor arising from remnants of thyroid tissue or the wall of the duct and generally occurs along the anatomic course of the TGD. TGD carcinoma originating in the hyoid bone is extremely rare but can occur since the TGD penetrates the hyoid bone on rare occasions. This report describes the case of a 30-year-old man with TGD carcinoma originating in the hyoid bone. Computed tomography demonstrated a mass in the hyoid bone that expanded the cortical bone of the hyoid. The mass had a central solid component with calcification and a marginal cystic component. When we encounter a calcified mass in the hyoid bone, we should consider TGD carcinoma among the differential diagnoses.
Terson's Syndrome - case report
Authors: Andreea Moraru, Ruxandra Mihailovici, Dănuţ Costin, Daniel Brănişteanu
Journal: Rom J Ophthalmol (2017)
Keywords: terson’s syndrome, epiretinal membrane, persistent hemorrhage, vitrectomy
MeSH terms: Aneurysm, Ruptured / complications, Intracranial Aneurysm / complications, Retinal Hemorrhage / etiology, Subarachnoid Hemorrhage / etiology, Vitreous Hemorrhage / etiology, Case Reports, Adult, Aneurysm, Ruptured / diagnosis, Epiretinal Membrane / etiology, Female, Humans, Intracranial Aneurysm / diagnosis, Retinal Hemorrhage / surgery, Vitrectomy, Vitreous Hemorrhage / surgery

Terson's Syndrome is represented by a vitreous, retrohyaloid, retinal, or subretinal hemorrhage occurring consequent to an acute intracranial hemorrhage or elevated intracranial pressure. The outcome may include a complete clearing of the blood and the restoration of VA or persistent hemorrhage. This report presents the case of a 43-year-old woman who underwent bilateral surgery for a persistent vitreous hemorrhage and a hematoma underneath the internal limiting membrane in the left eye. The event followed shortly after a subarachnoid hemorrhage due to the rupture of a posterior communicating artery aneurism. Vitrectomy was performed in both eyes, together with the peeling of the internal limiting membrane in the left eye, followed by a bilateral good outcome.
Case report: Salvage capmatinib therapy in KIF5B-MET fusion-positive lung adenocarcinoma with resistance to telisotuzumab vedotin
Authors: Chien-Yu Lin, Sheng-Huan Wei, Yi-Lin Chen, Chung-Ta Lee, Shang-Yin Wu, Chung-Liang Ho, Dean C Pavlick, Po-Lan Su, Chien-Chung Lin
Journal: Front Oncol (2022)
Keywords: kif5b-met fusion, capmatinib, case report, lung adenocarcinoma, telisotuzumab vedotin
MeSH terms: Case Reports

Telisotuzumab vedotin is a MET-targeting antibody-drug conjugate that has demonstrated a good treatment response in patients with EGFR wild-type MET-overexpressing non-squamous non-small cell lung cancer. However, patients have been reported to acquire resistance to this drug, and the subsequent therapy has not been standardized. Here, we present a case of a 56-year-old woman diagnosed with KIF5B-MET fusion-positive non-small cell lung cancer who had a durable response to capmatinib after acquired resistance to telisotuzumab vedotin.
Pemphigus vulgaris: a case report
Authors: Janumpally Varshitha Thanmai, Gantala Ramlal, Katne Tejaswi, Inukonda Lakshmi Mounica
Journal: Pan Afr Med J (2022)
Keywords: pemphigus vulgaris, acantholysis, autoimmune disorder, case report, corticosteroids
MeSH terms: Pemphigus / diagnosis, Pemphigus / drug therapy, Case Reports, Acantholysis / complications, Acantholysis / prevention & control, Autoantibodies, Blister, Desmogleins, Female, Humans, Immunoglobulin G, Keratinocytes / pathology, Middle Aged, Autoantibodies, Desmogleins, Immunoglobulin G

Pemphigus vulgaris (PV) is an autoimmune mucocutaneous disorder of the oral cavity and is the most common subtype of pemphigus. The etiology remains obscure, although the disease is characterized by autoantibodies directed against the desmoglein component of the keratinocytes. It manifests clinically as vesicle, bullae or erosions of skin and mucous membrane and histopathologically shows the presence of acantholysis. The presence of exclusive oral lesions initially increases the chances of misdiagnosing the disease as another condition, posing diagnostic, therapeutic and prognostic difficulties, consequently prompt diagnosis and treatment can prevent untoward consequences. Demonstration of IgG antibodies against desmoglein in Immunofluroscence confirms the diagnosis. In here we report a case of a 55-year-old female patient suffering from PV emphasizing the significance of clinical examination, pertinent investigations, treatment rendered and its outcome.
Necrotic gangrenous intrathoracic appendix in a marfanoid adult patient: a case report
Authors: Mohannad J Barakat, Jon H Vickers
Journal: BMC Surg (2005)
MeSH terms: Appendicitis / surgery, Hernia, Diaphragmatic / surgery, Marfan Syndrome / complications, Case Reports, Abdomen / abnormalities, Adult, Appendicitis / diagnostic imaging, Female, Hernia, Diaphragmatic / diagnostic imaging, Hernia, Diaphragmatic / etiology, Humans, Radiography, Abdominal, Tomography, X-Ray Computed

Background:
A diaphragmatic hernia is defined as a defect in part of the diaphragm through which abdominal contents can protrude into the thorax. It may be congenital or acquired. In this case report, we aim to demonstrate a congenital diaphragmatic hernia in an adult marfanoid patient which required emergency treatment
Case presentation:
A 43 year old woman was admitted with classical appendicitis requiring surgery. She incidentally had Marfan's clinical features with a positive family history for the syndrome. At operation she had grossly abnormal abdominal anatomy. Radiological investigations demonstrated a large right congenital diaphragmatic hernia with an intrathoracic hernial sac containing a perforated gangrenous appendix. The hernial sac was opened surgically and the appendix excised. The patient made a full recovery.
Conclusion:
Diaphragmatic hernias are usually congenital in nature often requiring early corrective surgery for future survival. We have demonstrated the presence of an unusually large diaphragmatic defect, almost a hemidiaphragmatic defect, of unknown direct etiology, but of some possible association with Marfan's syndrome in an adult patient presenting with an acute perforated gangrenous appendix requiring emergency life-saving surgery.
The Alteration of Brain Function by the Improvement of Periodontal Tissues and Occlusal State
Authors: Kosuke Muraoka, Masafumi Oda, Kenichi Yoshino, Tatsurou Tanaka, Masaki Morishita, Taiji Nakamura, Ryota Kibune, Jyunpei Tokunaga, Kazuo Sonoki, Yasuhiro Morimoto, Keisuke Nakashima, Shuji Awano
Journal: Case Rep Dent (2022)
MeSH terms: Case Reports

Objective:
In this study, we have introduced a case in which the effective blood oxygenation level-dependent signal on functional magnetic resonance imaging (fMRI) was altered by the improvement of periodontal tissue and occlusal function in a patient with periodontitis Stage II Grade B. Material and Methods. A 61-year-old female patient requiring periodontal treatment was diagnosed as having periodontitis Stage II Grade B via clinical and radiographic examinations. Her past medical history included type 2 diabetes, hypertension, and hyperlipidemia. Following the patient's informed written consent, the periodontal initial treatment provided to the patient included tooth brushing instruction and scaling and root planing; however, occlusal adjustment was not performed at this stage. Occlusal force and fMRI results were also evaluated at the initial and reevaluation examinations.
Results:
After the periodontal initial treatment had been performed, it was noted that the patient's periodontal tissue and occlusal force had improved. It was also evident from fMRI that cerebral blood flow had been activated in the insula, primary motor cortex, and premotor cortex.
Conclusion:
This result suggested that the periodontal ligament had recovered and the periodontal ligament neuron had been further subjected to clenching in the insula so that the muscle spindle sensation impacted the motor cortex.
Life-threatening Episodes of Malignant Hyperthermia Following Halothane Anesthesia in Three Children: A Case Series and Review of Literature
Authors: Somrita Laha, Prabhas P Giri, Agnisekhar Saha, Partha P Gupta, Anisha De
Journal: Indian J Crit Care Med (2019)
Keywords: anesthesia, dantrolene, halothane, malignant hyperthermia, ryanodine receptor

Malignant hyperthermia (MH) is an inherited, pharmacogenetic disorder of the skeletal muscle, characterized by dangerous hypermetabolic state after anesthesia with succinylcholine and/ or volatile halogenated anesthetic agents, clinically manifested as hyperpyrexia and related complications like tachycardia, tachypnea, increased carbon dioxide production, increased oxygen consumption, acidosis, rigid muscles, rhabdomyolysis and disseminated intravascular coagulation (DIC). Here we present a series of three cases of MH, admitted in our hospital in a span of 8 months for three different operative procedures to be done under general anesthesia (cleft lip repair, Duhamel's operation for Hirschsprung's disease and surgical repair of development dysplasia of hip), who developed probable hyperthermia owing to Halothane being used as an anesthetic agent.
How to cite this article:
Laha S, Giri PP, Saha A, Gupta PP, De A. Life-threatening Episodes of Malignant Hyperthermia Following Halothane Anesthesia in Three Children: A Case Series and Review of Literature. Indian Journal of Critical Care Medicine, January 2019;23(1):47-50.
Surgical approach to a large left adrenocortical mass with associated tumour thrombosis of the left renal vein: preservation of the ipsilateral kidney
Authors: Manuel Pérez Utrilla, Carlos Nuñez Mora, Alejandro Rojo Sebastián, Pedro M Cabrera Castillo, José M García Mediero
Journal: Adv Urol (2009)
MeSH terms: Case Reports

A sixty-years-old male with diagnosis of a left adrenal mass (146 x 99 x 126 mm) with associated tumour thrombosis of the left renal vein with no clear signs of thrombosis of the inferior vena cava was admitted for elective surgery Finally an adrenalectomy and excision of tumour thrombus preserving the ipsilateral kidney was made. Despite of the complex vascular management, this kind of approaches allow to preserve normal renal function in patients with future nephrotoxic treatment like cisplatin.
Spontaneous rupture of an adrenal artery in pregnancy: a case report
Authors: D Bolla, V Schyrba, G Drack, S Dietler, R Hornung
Journal: Case Rep Obstet Gynecol (2012)

A spontaneous rupture of an adrenal artery is a rare cause of abdominal pain in pregnancy. We present a case of a pregnant woman who needed to be operated on because of a rupture of the right adrenal artery associated with a fetal bradycardia. An immediate caesarean section was performed. The intra-abdominal palpation identified an extensive retroperitoneal mass near the right kidney and a postoperative computer tomography confirmed an active bleeding near the kidney. For this reason our interventional radiology team, using a right femoral artery approach, performed a flush aortogram and identified the source of bleeding in the right adrenal artery. After two attempts, a coiling of the artery stopped the haemorrhage. The pathogenesis of arterial haemorrhage is still poorly understood although a possible cause could be the excess of hormones during pregnancy, which can lead to a significant arterial wall degeneration. In case of a retroperitoneal bleeding and if the patient is still haemodynamically stable, a transcatheter embolization using microcoils must be considered. This technique is nowadays safe and effective and can be performed within a short time with a lower risk of complications.
Ultrasound Detection of Portomesenteric Venous Gas Is an Early Sign of Bowel Ischaemia in Non-Traumatic Abdominal Pain: Old Dogs, New Tricks-Four Cases Report
Authors: Mirko Di Capua, Michela Tonani, Stefano Paglia
Journal: Case Rep Crit Care (2022)
MeSH terms: Case Reports

Acute bowel ischemia is a severe disease often with a poor outcome. Early diagnosis can improve outcome, but atypical clinical manifestations and nonspecific laboratory and instrumental diagnostic findings may delay computed tomographic angiography (CTA). Portomesenteric venous gas (PVG), indirect sign of pneumatosis intestinalis, is considered a late finding with poor prognosis. We report four cases where PVG, easily identified through point-of-care ultrasonography (POCUS), was an early sign of bowel ischemia leading to a precocious diagnosis confirmed at CTA. In acute non-traumatic abdominal pain, an evidence of PVG could be an early ultrasonographic finding of bowel ischemia in the emergency department.
An Unusual Cause of Secondary ITP in a 34-Year-Old Hispanic Male
Authors: Ayrton Bangolo, Mohamed Ahmed, Ali Atoot, Ashraf Mahmoud, Chibuzo Agbakwuru-Onyike, Maria Karina Larni Y Palad, Michael Sciarra, Adam Atoot
Journal: Case Rep Hematol (2021)
MeSH terms: Case Reports

Secondary immune thrombocytopenic purpura (ITP) associated with Helicobacter pylori (H. pylori) infection has been described in the literature. It appears to have a geographic distribution; mostly encountered in countries with a higher prevalence for H. pylori such as Italy or Japan. H. pylori eradication has been recommended in the management of ITP with studies showing improvement in the platelet count in some patients. Substantial platelet count increases in patients with severe thrombocytopenia (platelet counts <30 × 103 microliter), however, are uncommon with H. pylori treatment alone. Here, we present a 34-year-old Hispanic male with worsening chronic thrombocytopenia that resolved following eradication of his H. pylori infection. Herein, we highlight a rare and reversible cause of secondary ITP. With this case report, we hope to encourage physicians to include H. pylori testing in the evaluation of thrombocytopenia.
DDX58 and Classic Singleton-Merten Syndrome
Authors: Carlos R Ferreira, Yanick J Crow, William A Gahl, Pamela J Gardner, Raphaela Goldbach-Mansky, Sun Hur, Adriana Almeida de Jesús, Michele Nehrebecky, Ji Woo Park, Tracy A Briggs
Journal: J Clin Immunol (2019)
Keywords: interferonopathy, singleton-merten syndrome, retinoic acid-inducible gene i, type i interferon
MeSH terms: Aortic Diseases / genetics, DEAD Box Protein 58 / genetics, Dental Enamel Hypoplasia / genetics, Metacarpus / abnormalities, Muscular Diseases / genetics, Odontodysplasia / genetics, Osteoporosis / genetics, Vascular Calcification / genetics, Case Reports, Research Support, N.I.H., Extramural, Research Support, N.I.H., Intramural, Research Support, Non-U.S. Gov't, Adult, Cell Line, Female, Gain of Function Mutation / genetics, HEK293 Cells, Humans, Interferon Type I / genetics, Male, Middle Aged, Phenotype, Promoter Regions, Genetic / genetics, Receptors, Immunologic, Interferon Type I, Receptors, Immunologic, DDX58 protein, human, DEAD Box Protein 58, Singleton Merten syndrome

Purpose:
Singleton-Merten syndrome manifests as dental dysplasia, glaucoma, psoriasis, aortic calcification, and skeletal abnormalities including tendon rupture and arthropathy. Pathogenic variants in IFIH1 have previously been associated with the classic Singleton-Merten syndrome, while variants in DDX58 has been described in association with a milder phenotype, which is suggested to have a better prognosis. We studied a family with severe, "classic" Singleton-Merten syndrome.
Methods:
We undertook clinical phenotyping, next-generation sequencing, and functional studies of type I interferon production in patient whole blood and assessed the type I interferon promoter activity in HEK293 cells transfected with wild-type or mutant DDX58 stimulated with Poly I:C.
Results:
We demonstrate a DDX58 autosomal dominant gain-of-function mutation, with constitutive upregulation of type I interferon.
Conclusions:
DDX58 mutations may be associated with the classic features of Singleton-Merten syndrome including dental dysplasia, tendon rupture, and severe cardiac sequela.
CMV hyperimmune globulin as salvage therapy for recurrent or refractory CMV infection in children undergoing hematopoietic stem cell transplantation
Authors: Melissa Panesso, María Luz Uría, Berta Renedo, Juliana Esperalba, María Isabel Benítez-Carabante, Natalia Mendoza-Palomar, Laura Alonso, Maria Oliveras, Cristina Diaz-de-Heredia
Journal: Front Pediatr (2023)
Keywords: cmv hyperimmune globulin, children, cytomegalovirus, hematopoietic stem cell transplantation, salvage therapy

Cytomegalovirus (CMV) is a major cause of allogeneic hematopoietic stem cell transplant (HSCT)-related morbidity and mortality. Treatment failure continues to be a major issue in patients with CMV infection due to both drug resistance and intolerance. This single-center brief retrospective analysis of a case series aims to investigate the safety and efficacy of CMV-hyperimmune globulin as salvage therapy for CMV infection in children undergoing HSCT. Fifteen pediatric patients received human CMV-specific immunoglobulin (CMVIG) between July 2018 and December 2021 as a salvage therapy for refractory or recurrent CMV infection. At the time of CMVIG prescription, eight children presented with recurrent CMV infection and seven with refractory CMV infection. The overall response rate was 67% at 50 days from the CMVIG administration [95% confidence interval (CI): 44-88]. Overall survival (OS) from CMVIG administration at 100 days was 87% (95% CI: 56-96), and OS from HSCT at 1 year was 80% (95% CI: 50-93). Four patients died, three unrelated to CMV infection and one due to CMV pneumonia. CMVIG as salvage therapy was well tolerated, and no infusion-related adverse events were observed.
Hypoxemic Respiratory Failure from Acute Respiratory Distress Syndrome Secondary to Leptospirosis
Authors: Shannon M Fernando, Pierre Cardinal, Peter G Brindley
Journal: Case Rep Crit Care (2017)
MeSH terms: Case Reports

Acute respiratory distress syndrome (ARDS), characterized by hypoxemic respiratory failure, is associated with a mortality of 30-50% and is precipitated by both direct and indirect pulmonary insults. Treatment is largely supportive, consisting of lung protective ventilation and thereby necessitating Intensive Care Unit (ICU) admission. The most common precipitant is community-acquired bacterial pneumonia, but other putative pathogens include viruses and fungi. On rare occasions, ARDS can be secondary to tropical disease. Accordingly, a history should include travel to endemic regions. Leptospirosis is a zoonotic disease most common in the tropics and typically associated with mild pulmonary complications. We describe a case of a 25-year-old male with undiagnosed leptospirosis, presenting with fever and severe hypoxemic respiratory failure, returning from a Costa Rican holiday. There was no other organ failure. He was intubated and received lung protective ventilation. His condition improved after ampicillin and penicillin G were added empirically. This case illustrates the rare complication of ARDS from leptospirosis, the importance of taking a travel history, and the need for empiric therapy because of diagnostic delay.
A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype
Authors: Deepa Banker, Bhavdeep Mungala, Zankhana Parekh, Shachi Ganatra, Vimal Maheshwari, Yashica Raj, Utsav Patel, Digant Patel, Kishan Chamar, Vasu Solanki
Journal: Case Rep Pediatr (2023)
MeSH terms: Case Reports

Microdeletion of the short arm of chromosome 18 is one of the most common chromosome deletion syndromes. Its estimated frequency is 1 in 50,000 live-born infants, with female prevalence over males. Around 150 cases have been described till now. The reported abnormalities include growth deficiency, hypotonia, microcephaly, dysmorphic facial features such as ptosis, epicanthal folds, hypertelorism and micrognathia, and relatively small hands and feet. Our patient was a full-term low birth weight (2150 gm) female newborn, showing cleft upper lip and palate (hard and soft palate), bilateral congenital Talipes Equinovarus with rocker bottom foot, microcephaly, atrial septal defect. She was initially conservatively managed with gavage feeding, then shifted into paladai feeding of expressed breast milk. A multidisciplinary approach was adopted due to various malformations and for the potential occurring complications. To our knowledge, this is the first case diagnosed during the neonatal period.
Peptic ulcer disease complicated with choledocho-duodenal fistula and gastro-intestinal bleeding: a case report and review of the literature
Authors: Isabelle Uhe, Alexis Litchinko, Emilie Liot
Journal: Front Surg (2023)
Keywords: biliary fistula, choledochoduodenal fistula, gastro-intestinal bleeding, helicobacter pylori, hematemesis
MeSH terms: Review

Peptic ulcer disease (PUD) is a very common condition, with an annual incidence ranging from 0.1% to 0.3% and a lifetime prevalence ranging from 5% to 10%. If not treated, it can lead to severe complications such as gastro-intestinal bleeding, perforation, or entero-biliary fistula. Entero-biliary fistulas and especially choledocho-duodenal fistula (CDF) are a rare, but relevant and important diagnosis, which can lead to several complications such as gastric outlet obstruction, bleeding, perforation, or recurrent cholangitis. In this article, we present the case of an 85-year-old woman with PUD complicated with gastro-intestinal bleeding and a CDF. We also performed a review of the literature to search for pre-existing cases with this atypical clinical presentation. The aim was to raise awareness among surgeons and clinicians by offering a summary of different types of entero-biliary and especially CDF, existing diagnostic investigations, and management.
A rare infection in the tropics that is not uncommon in cases of chronic granulomatous disease
Authors: Rakesh Bansie, Soeradj Harkisoen, Varsha Lachman, Esther Lai A Fat, Navin Ramdhani, Jan A M van Laar
Journal: Access Microbiol (2019)
Keywords: chromobacterium violaceum, chronic granulomatous disease, septicaemia
MeSH terms: Case Reports

Chromobacterium violaceum is a rare cause of infection in immunocompromised patients in the tropics with a spectrum of disease manifestations, including severe disease. Early identification of this micro-organism is essential for appropriate management. We present a case of C. violaceum septicaemia in a patient with chronic granulomatous disease.
Cutaneous metastases of breast carcinoma: a case report
Authors: Sergio Vano-Galvan, Paula Moreno-Martin, Irene Salguero, Pedro Jaen
Journal: Cases J (2009)

Background:
Cutaneous metastases can have variable clinical appearances and can mimic benign skin lesions. They are usually seen in patients with advanced disease, but they can be the presenting lesion.
Case presentation:
A 48-year-old woman presented with a 3-month history of progressive appearance of multiple asymptomatic nodular lesions on the chest. The recognition of cutaneous metastases often dramatically alters therapeutic plans, especially when metastases signify persistence of cancer originally thought to be cured. The most common tumor to metastasize to the skin is breast cancer.
Conclusion:
Every practitioner should be highly suspicious of acute-onset, persistent, firm papulonodules, especially when they develop on the chest.