OpenMed/multicare-articles huggingface dataset:
A radiological complete response to pembrolizumab in a patient with metastatic upper urinary tract urothelial cancer and Lynch syndrome
Authors: Ryosuke Oki, Tetsuya Urasaki, Arisa Ueki, Kentaro Inamura, Yoshinobu Komai, Shunji Takahashi, Junji Yonese, Takeshi Yuasa
Journal: IJU Case Rep (2022)
Keywords: lynch syndrome, immune checkpoint inhibitor, metastatic urothelial cancer, mismatch repair genes, pembrolizumab
MeSH terms: Case Reports

Introduction:
In Lynch syndrome, urothelial cancer is the third most common cancer, following colorectal and endometrial cancers. Little is known, however, about the efficacy of immune checkpoint inhibitors in the treatment of metastatic urothelial cancer in Lynch syndrome.
Case presentation:
A 49-year-old patient with metastatic urothelial cancer underwent pembrolizumab therapy after platinum-containing chemotherapy. The efficacy of the pembrolizumab therapy was good. Her lung and bone metastatic lesions disappeared in imaging studies and her back pain decreased dramatically. Pathogenic mutations of MSH2 and BRCA2 were found in the DNA extracted from her tumor, and subsequent genetic analysis confirmed the germline pathogenic variant of MSH2. As such, this case was genetically diagnosed as Lynch syndrome.
Conclusion:
We report metastatic urothelial cancer in a patient with Lynch syndrome who demonstrated a radiological complete response to pembrolizumab therapy. Accurate genetic diagnosis can provide useful information to both the patient and their relatives.
Incidental Splenic Marginal Zone Lymphoma With Extreme Macrocytosis After Hydroxyurea Use: A Case Report
Authors: Kinza Sultan, Sarala Kal, Andrew Wasson, Farbod Farmand
Journal: Cureus (2023)
Keywords: hydroxyurea use, large b-cell lymphoma, non-hodgkin lymphoma, secondary malignancy, splenic marginal zone lymphoma
MeSH terms: Case Reports

Splenic marginal zone lymphoma (SMZL) is a low-grade mature B-cell lymphoma that typically presents in the form of splenomegaly and lymphocytosis. The diagnosis is traditionally made through splenic histology, the presence of circulating villous lymphocytes, or bone marrow biopsy. Its treatment can be in the form of chemotherapy, such as rituximab, or active surveillance. This case presentation discusses a 76-year-old female with a long history of hydroxyurea use for an unknown reason presenting with atypical symptoms requiring bone marrow biopsy to diagnose SMZL. This unique case demonstrates the importance of further research and studies into atypical SMZL presentations and hydroxyurea's potential in precipitating secondary malignancies.
Physiologic Functional Evaluation of Left Internal Mammary Artery Graft to Left Anterior Descending Coronary Artery Steal due to Unligated First Thoracic Branch in a Case of Refractory Angina
Authors: Fadi J Sawaya, Henry Liberman, Chandan Devireddy
Journal: Case Rep Cardiol (2016)

Unligated side branches of the left internal mammary artery (LIMA) have been described in the literature as a cause of coronary steal resulting in angina. Despite a number of studies reporting successful side branch embolization to relieve symptoms, this phenomenon remains controversial. Hemodynamic evidence of coronary steal using angiographic and intravascular Doppler techniques has been supported by some and rejected by others. In this case study using an intracoronary Doppler wire with adenosine, we demonstrate that a trial occlusion of the LIMA thoracic side branch with selective balloon inflation can confirm physiologic significant steal and whether coil embolization of the side branch is indicated.
Right hemihepatectomy combined with ligation of the common hepatic artery and gastroduodenal artery for the treatment of intrahepatic HHT: A case report
Authors: Jifeng Xiang, Wei Xie, Cuncheng Zhang, Huaizhi Wang
Journal: Front Surg (2022)
Keywords: common hepatic artery, gastroduodenal artery, hereditary haemorrhagic telangiectasia, ligation, right hemihepatectomy
MeSH terms: Case Reports

Hereditary haemorrhagic telangiectasia (HHT) is a rare disease that lacks effective treatment. Here, the authors report the case of a 30-year-old woman presenting with abdominal pain accompanied by severe malnutrition. After a definite diagnosis of HHT involvement in the liver, liver transplantation was the first-choice treatment according to the guidelines of HHT. However, the patient firmly refused liver transplantation. Finally, a new type of surgery, right hemihepatectomy combined with ligation of the common hepatic artery and gastroduodenal artery, was performed based on careful study of the case and with the maximum benefit of the patient in mind. Although the patient developed transient liver dysfunction after surgery, she eventually recovered well and continued to be followed up. As far as we know, this is the first report of this kind of surgery for the treatment of intrahepatic HHT.
Challenges in management of primary hypoparathyroidism associated with autoimmune polyglandular syndrome type 1
Authors: I R Wallace, V McConnell, P M Bell, J R Lindsay
Journal: Case Rep Endocrinol (2011)
MeSH terms: Case Reports

We report a case of autoimmune polyglandular syndrome type 1 (APS1) complicated by severe vascular insufficiency due to diffuse vascular calcification. APS1 is characterised clinically by multiple autoimmune conditions and development of at least two components of the triad of mucocutaneous candidiasis, hypoparathyroidism, and autoimmune adrenal insufficiency. We highlight the problems in current serum calcium monitoring methods and suggest that fluctuations in serum calcium concentrations due to difficulties treating hypoparathyroidism may have contributed to the vascular calcification seen in this case.
Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report
Authors: Andrea Ballini, Stefania Cantore, Domenica Tullo, Apollonia Desiate
Journal: J Med Case Rep (2011)

Introduction:
Dubowitz syndrome is a very rare, autosomal recessive disease characterized by microcephaly, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation. Symptoms vary between patients, but other characteristics include a soft high-pitched voice, dental and craniofacial abnormalities, partial webbing of the fingers and toes, palate deformations, genital abnormalities, eczema, hyperactivity, preference for concrete over abstract thinking, language difficulties and an aversion to crowds.
Case presentation:
We describe the craniofacial and dental characteristics of a 12-year-old Caucasian Italian boy with both the typical and less common findings of Dubowitz syndrome.
Conclusion:
Diagnosis of Dubowitz syndrome is mainly based on the facial phenotype. Possible conditions for differential diagnosis include Bloom syndrome, Smith-Lemli-Opitz syndrome, and fetal alcohol syndrome. As there are few reports of this syndrome in the literature, we hope this case report will enable health professionals to recognize the phenotypic alterations of this syndrome, and allow early referral for the necessary multidisciplinary treatments.
Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone
Authors: Massimiliano Filosto, Stefano Cotti Piccinelli, Anna Pichiecchio, Olimpia Musumeci, Anna Galvagni, Filomena Caria, Serena Gallo Cassarino, Enrico Baldelli, Raimondo Vitale, Alessandro Padovani, Antonio Toscano
Journal: Front Neurol (2019)
Keywords: gsd vii, pfk deficiency, amiodarone, cyclosporine, glycogenosis vii, muscle mri
MeSH terms: Case Reports

Glycogenosis VII (GSD VII) is a rare autosomal recessive glycogen storage disorder caused by mutations in the PFKM gene encoding the phosphofructokinase (PFK) enzyme. A classical form with exercise intolerance, contractures, and myoglobinuria, a severe multisystem infantile form, an hemolytic variant and a late-onset form usually presenting with muscle pain and mild fixed proximal weakness have been reported. We describe a 65-year-old man affected by muscle PFK deficiency who, since the age of 33, presented with exercise intolerance and myoglobinuria. Muscle biopsy showed a vacuolar myopathy with glycogen storage. The biochemical assay of PFK-M showed very low residual activity (6%). Genetic analysis of PFKM gene evidenced the presence of the heterozygote c.1817A>C (p.Asp543Ala) and c.488 G>A (p.Arg100Gln) pathogenic mutations. In his fifth decade, he started cyclosporine after liver transplantation for hepatocellular carcinoma and, then, amiodarone because of atrial fibrillation. In the following years, he developed a progressive and severe muscle weakness, mainly involving lower limbs, up to a loss of independent walking. Muscle MRI showed adipose substitution of both anterior and posterior thigh muscles with selective sparing of the medial compartment. Marked signs of adipose substitution were also documented in the legs with a selective replacement of gemelli and peroneus muscles. The temporal relationship between the patient's clinical worsening and chronic treatment with cyclosporine and amiodarone suggests an additive toxic damage by these two potentially myotoxic drugs determining such an unusually severe phenotype, also confirmed by muscle MRI findings.
A Bilocular Radicular Cyst in the Mandible with Tooth Structure Components Inside
Authors: Akari Noda, Masanobu Abe, Aya Shinozaki-Ushiku, Yae Ohata, Liang Zong, Takahiro Abe, Kazuto Hoshi
Journal: Case Rep Dent (2019)
MeSH terms: Case Reports

Background:
A radicular cyst is the most common odontogenic cyst of inflammatory origin. Radiographically, it commonly demonstrates clear unilocular radiolucency; radicular cysts with multilocular radiolucency are quite rare.
Case presentation:
A 64-year-old Japanese man who presented with a bilocular radiolucent lesion in his left mandible was referred by a dental clinic to our oral and maxillofacial surgery department. He had no particular subjective symptoms. Orthopantomography and computed tomography (CT) revealed an 18 mm × 15 mm lesion with well-defined bilocular radiolucency in the left mandible expanding from the distal side of a canine tooth to the bottom of the 2nd premolar. The lesion included the roots of the 1st and 2nd premolars. The root of the 2nd premolar showed knife-edge resorption. Although the 1st premolar was nonvital, the 2nd premolar was a vital tooth. As differential diagnoses, a radicular cyst, ameloblastoma, odontogenic keratocyst, pseudocyst, and others might be considered. We performed a total resection of the bilocular lesion and diagnosed the lesion as a radicular cyst with tooth structure components inside. The tooth structure components represented lamellar structures of cementum; they were located only in the proximal part (under the 1st premolar) of the lesion. The distal part of the lesion presented distinctive inflammation without tooth structure components.
Conclusion:
We encountered a rare case of a bilocular radicular cyst with tooth structure components inside.
Pelvic peritonitis during biologic therapy for rheumatoid arthritis: a case report and review of the literature
Authors: Tsuyoshi Sasaki, Koichi Okamura, Yukio Yonemoto, Chisa Okura, Kenji Takagishi
Journal: Springerplus (2014)
Keywords: biologics, methotrexate, pelvic peritonitis, rheumatoid arthritis, tacrolimus

Introduction:
Infections are recognized as major complications during therapy with biologics and other immunosuppressant drugs. The respiratory tract, bone, joint, skin, and soft tissues are well known sites of infection in patients with rheumatoid arthritis (RA) treated by biologics or other immunosuppressants. It is known that patients with intra-abdominal infections may develop tuberculous peritonitis during biologic therapy. However, non-tuberculous pelvic peritonitis is rare.
Case description:
A case of a 46-year-old patient with RA developed pelvic peritonitis during therapy with MTX, tacrolimus (TAC), and golimumab (GLM). The patient visited our hospital due to a fever and general malaise. Physical findings included lower abdominal tenderness and rebound tenderness. Abdominal computed tomography (CT) images showed an intrauterine foreign body and ascites. The contraceptive ring was removed. Streptococcus agalactiae and Streptococcus constellatus were cultured from the removed contraceptive ring. She was started on an antimicrobial agent, flomoxef (FMOX), at 2 g/day. The FMOX dosage was increased to 3 g/day from the 3rd day of disease and continued for 10 days. Her fever disappeared from the 4th disease day, and her inflammatory response then gradually decreased. No exacerbation of symptoms occurred even after the FMOX treatment was stopped, and the patient was discharged on the 14th disease day.
Discussion and evaluation:
MTX and biologics were being administered at the time of onset of peritonitis. The peritonitis was diagnosed on the basis of the gynecological evaluation and CT imaging findings that were typical of peritonitis. The patient was in an immunosuppressed state during administration of anti-rheumatic drugs, and the peritonitis was thought to have developed due to an ascending infection via the long-term presence of the intrauterine contraceptive ring which had an attached string.
Conclusions:
Before starting biological agents, patients must be questioned regarding the presence of an intrauterine foreign body.
Endometrial Stromal Sarcoma Recurrence in the Caecum
Authors: Nisar A Chowdri, Asif Mehraj, Fazl Q Parray, Mudassir A Khan, Masood A Laharwal, Rauf A Wani
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Endometrial stromal sarcomas of uterus are quite rare. Most of the recurrences in these tumors are seen in the pelvis. However, extrapelvic recurrences and metastases to other parts are quite unusual. Here, we are reporting a rare case of caecal recurrence of endometrial stromal sarcoma. Case Report. A 52-year-old female presented to us with pain and lump in the right lower abdomen. The patient was earlier subjected to total abdominal hysterectomy with bilateral salpingo-oophorectomy (TAHBSO) for low-grade endometrial stromal sarcoma. Postoperatively patient received radiotherapy but no hormone therapy. After 10 years of follow up patient presented with a polypoidal lesion in the caecum. Patient was evaluated fully and subjected to resection of this polypoidal lesion, which proved out to be high-grade endometrial stromal sarcoma. Conclusion. Recurrence of endometrial stromal sarcoma in the caecum is very rare. However, this entity needs to be kept in mind for differential diagnosis of a caecal mass. Recurrence in such cases may present quite late.
Hepatic epithelioid hemangioendothelioma: A diagnostic pitfall in aspiration cytology
Authors: Ruchika Gupta, Sandeep R Mathur, S Datta Gupta, Prashant Durgapal, Venkateswaran K Iyer, Chandan Jyoti Das, Shalimar, Subrat K Acharya
Journal: Cytojournal (2010)
Keywords: aspiration cytology, epithelioid hemangioendothelioma (eh), histopathology, immunohistochemistry, liver
MeSH terms: Case Reports

Hepatic epithelioid hemangioendothelioma (EH) is a rare vascular neoplasm. An accurate radiologic diagnosis is usually difficult due to the presence of multiple nodules, simulating metastatic carcinoma. Though histologic features of this tumor are well described, cytologic reports of hepatic EH are very few in the available literature. We describe a case of a young healthy adult male who was found to have multiple hepatic masses on radiologic investigations. A guided fine needle aspiration demonstrated a poorly differentiated neoplasm. The diagnosis was made on core biopsy assisted by immunohistochemistry, which showed characteristic features of EH. He is doing well 14 months after diagnosis, without surgical excision or chemotherapy. An accurate diagnosis of hepatic EH on aspiration cytology requires an adequate specimen and awareness of its cytologic features, including discohesive atypical cells with intracytoplasmic lumina and intranuclear inclusions. Since this tumor is usually unresectable but has a favorable prognosis as compared to hepatocellular carcinoma, a correct diagnosis is essential for appropriate management and prognostication.
Superficial siderosis: A rare case of ataxia and otoneurological manifestations
Authors: Farhad Assarzadegan, Elaheh Ehsanpour, Behnam Hosseini, Nahid Beladi-Moghadam, Behnam Mansouri, Omid Hesami
Journal: Iran J Neurol (2013)
Keywords: hemosiderin, neurological dysfunction, superficial siderosis
MeSH terms: Case Reports

Superficial siderosis (SS) is a rare disease which affects people in all ages and both sexes, but three times more in men. Pathological etiology is deposition of hemosiderin (a product of the breakdown of blood) in leptomeninges, subpial layer, ependymal surface and other parts of central nervous system (CNS) and typically leads to neurological dysfunction and progressive irreversible signs and symptoms. We present a 33-year-old man with complete deafness in left ear, partial hearing loss in right ear, gait imbalance, bilateral frontotemporal throbbing headache and anosmia resulted from superficial siderosis.
Spleen-Preserving Surgery in Splenic Artery Aneurysm
Authors: Ulaş Aday, Emre Bozdağ, Ebubekir Gündeş, Selçuk Gülmez, Kamuran Cumhur Değer
Journal: Case Rep Surg (2017)
MeSH terms: Case Reports

Endovascular interventions are increasingly used in the treatment of a splenic artery aneurysm (SAA), which is a rare and life-threatening clinical disorder. However, in cases of SAA rupture, minimally invasive interventions are unsuitable, and open surgery remains the gold standard method. In open surgery, care should be taken to preserve the spleen and its immune function in cases where an arterial segment of sufficient length allows for reconstruction. An SAA was detected in a 51-year-old woman who presented to our polyclinic with left upper quadrant pain. An endovascular intervention was unsuccessful, and open surgery was performed. Approximately 5 cm of aneurysm in the middle segment of the splenic artery was treated by arterial anastomosis, and the spleen was preserved. The patient experienced no postoperative complications and remained asymptomatic at the seventh month of follow-up. The aim of this case report is to emphasize the importance of splenic sparing surgery in cases of SAAs.
Loss-of-Function in SMAD4 Might Not Be Critical for Human Natural Killer Cell Responsiveness to TGF-β
Authors: Lachlan P Healy, Gustavo R Rossi, Jai Rautela, Charlotte A Slade, Nicholas D Huntington, Ingrid M Winship, Fernando Souza-Fonseca-Guimaraes
Journal: Front Immunol (2019)
Keywords: cd56bright/dim subsets, hereditary hemorrhagic telangiectasia, nk cell, smad4, tgf-β signaling, loss-of-function mutations
MeSH terms: Killer Cells, Natural / immunology, Smad4 Protein / immunology, Telangiectasia, Hereditary Hemorrhagic / immunology, Transforming Growth Factor beta / immunology, Case Reports, Aged, Female, Humans, Loss of Function Mutation, Male, Middle Aged, Smad4 Protein / genetics, Telangiectasia, Hereditary Hemorrhagic / genetics, SMAD4 protein, human, Smad4 Protein, Transforming Growth Factor beta

We characterized the NK cell phenotype and function in three family members with Hereditary Hemorrhagic Telangiectasia (HHT) due to heterozygous SMAD4 mutations. Loss-of-function mutation in this gene did not induce developmental effects to alter CD56bright or CD56dim NK cell subset proportions in peripheral blood; and did not result in major differences in either their IL-15-induced proliferation, or their cytokine secretion response to TGF-β1. These data suggest that SMAD4 plays a redundant role in downstream TGF-β signaling in NK cells.
Oral Myiasis Affecting Gingiva in a Child Patient: An Uncommon Case Report
Authors: Fareedi Mukram Ali, Kishor Patil, Sanjay Kar, Atulkumar A Patil, Shabeer Ahamed
Journal: Case Rep Dent (2016)

Certain dipteran flies larvae causing invasion of the tissues and organs of the humans or other vertebrates are called as myiasis, which feed on hosts dead or living tissues. It is well documented in the skin and hot climate regions; underdeveloped countries are affected more commonly. Oral cavity is affected rarely and it can be secondary to serious medical conditions. Poor oral hygiene, alcoholism, senility, or suppurating lesions can be associated with the oral myiasis. Inflammatory and allergic reactions are the commonest clinical manifestations of the disease. In the present case, gingiva of maxillary anterior region was affected by larval infection in a 13-year-old mentally retarded patient.
Successful Treatment of a Drug-Resistant Epilepsy by Long-term Transcranial Direct Current Stimulation: A Case Report
Authors: Daniel San-Juan, Carlos Ignacio Sarmiento, Katia Márquez González, José Manuel Orenday Barraza
Journal: Front Neurol (2018)
Keywords: cortical dysplasia, epilepsy, neuromodulation, pharmaco-resistant, transcranial direct current stimulation
MeSH terms: Case Reports

Transcranial direct current stimulation (tDCS) is a reemerged noninvasive cerebral therapy used to treat patients with epilepsy, including focal cortical dysplasia, with controversial results. We present a case of a 28-year-old female with left frontal cortical dysplasia refractory to antiepileptic drugs, characterized by 10-15 daily right tonic hemi-body seizures. The patient received a total of seven sessions of cathodal tDCS (2 mA, 30 min). The first three sessions were applied over three consecutive days, and the remaining four sessions of tDCS were given each at 2-week intervals. At the 1-year follow-up, the patient reported to have a single seizure per month and only mild adverse events.
Successful Treatment of Sjögren's Syndrome Presenting as a Condition Similar to Chronic Capillary Leak Syndrome Using Combination Therapy with High-Dose Intravenous Immunoglobulin and Glucocorticoid
Authors: Masami Tokura, Tomoko Niwano, Kenji Nagasaka
Journal: Case Rep Rheumatol (2019)
MeSH terms: Case Reports

A 70-year-old woman with Sjögren's syndrome (SS) complained of generalized edema. Computed tomography showed thoracoabdominal fluid, suggesting serositis with SS. 35 mg/day of prednisolone as a monotherapy was ineffective. Moreover, hemoconcentration with hypoalbuminemia without inflammatory signs lead us to consider the systemic capillary leak syndrome (SCLS). Additional treatment with intravenous immunoglobulin (IVIG) and prednisolone dramatically decreased the thoracoabdominal fluid. However, when reducing the prednisolone dose, the thoracoabdominal fluid reincreased. Retreatment with IVIG without increasing the prednisolone dose was ineffective. However, additional prednisolone of 35 mg/day was effective, suggesting SCLS with SS might require combination therapy with IVIG and glucocorticoid.