OpenMed/multicare-articles huggingface dataset:
A potential relationship among beta-defensins haplotype, SOX7 duplication and cardiac defects
Authors: Fei Long, Xike Wang, Shaohai Fang, Yuejuan Xu, Kun Sun, Sun Chen, Rang Xu
Journal: PLoS One (2013)
MeSH terms: Gene Duplication, Haplotypes, Heart Defects, Congenital / genetics, SOXF Transcription Factors / genetics, beta-Defensins / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, Child, Chromosome Deletion, Chromosomes, Human, Pair 8, Comparative Genomic Hybridization, Echocardiography, Female, Genetic Association Studies, Heart Defects, Congenital / diagnosis, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Male, SOX7 protein, human, SOXF Transcription Factors, beta-Defensins

Objective:
To determine the pathogenesis of a patient born with congenital heart defects, who had appeared normal in prenatal screening.
Methods:
In routine prenatal screening, G-banding was performed to analyse the karyotypes of the family and fluorescence in situ hybridization was used to investigate the 22q11.2 deletion in the fetus. After birth, the child was found to be suffering from heart defects by transthoracic echocardiography. In the following study, sequencing was used to search for potential mutations in pivotal genes. SNP-array was employed for fine mapping of the aberrant region and quantitative real-time PCR was used to confirm the results. Furthermore, other patients with a similar phenotype were screened for the same genetic variations. To compare with a control, these variations were also assessed in the general population.
Results:
The child and his mother each had a region that was deleted in the beta-defensin repeats, which are usually duplicated in the general population. Besides, the child carried a SOX7-gene duplication. While this duplication was not detected in his mother, it was found in two other patients with cardiac defects who also had the similar deletion in the beta-defensin repeats.
Conclusion:
The congenital heart defects of the child were probably caused by a SOX7-gene duplication, which may be a consequence of the partial haplotype of beta-defensin regions at 8p23.1. To our knowledge, this is the first congenital heart defect case found to have the haplotype of beta-defensin and the duplication of SOX7.
Uncommon site of metastasis from renal cell carcinoma: Case report
Authors: Mauricio Alves Ribeiro, Caroline Petersen da Costa Ferreira, Bruno de Lucia Hernani, Luiz Arnaldo Szutan, Maria Carolina Galli Mortati, Fabiana Toledo Bueno Pereira, Fabio Kater
Journal: Int J Surg Case Rep (2019)
Keywords: case report, gallblader tumor, latente metastasis, renal cell carcinomas

Background:
Renal cell carcinomas (CCR) account for 90% of renal tumors. Presence of latent distant metastasis is characteristic of RCC and may manifest more than a decade after nephrectomy. Gallbladder (GB) is a rare site of metastasis, with few reports in the literature. A case of metastasis from RCC to GB nine years after initial diagnosis is reported herein.
Case report:
Male patient, 74 years, nine years post right radical nephrectomy for grade 2 clear-cell adenocarcinoma, T3BN0M0. During onset, Magnetic Resonance Imaging (MRI) evidenced T2-weighted hypointense and T1-weighted hyperintense lesion, with early and persistente contrast enhancement and exophytic bulging of the underlying outer vesicular margin. T1-weighted hypointense and T2-weighted slightly hyperintense nodular formation was also evidenced in the body portion of the pancreas, with 1.5 × 1.2 cm. The patient was subjected to videolaparoscopic cholecystectomy associated to endoscopic ultrasound (EUS) intraoperatively for investigation of the pancreatic nodule. The anatomopathological examination of the gallbladder was compatible with infiltrating metastasis from clear-cell carcinoma of primary renal site. A solid, hypoechoic, oval nodule with 14 mm was found at EUS, which cytology was suggestive of clear-cell Carcinoma. Because this is an indolent disease with oligometastasis, local ablative treatment with fractionated stereotactic radiation therapy with a dose of 40 Gy was selected. The patient is found with stable disease one year after radiation therapy.
Conclusion:
Gallbladder is an unusual site of RCC metastasis. In patients with history of this disease, all vesicular lesions should be given attention, even where the primary tumor has been treated many years before.
Unusual case of splenic sarcoidosis without morphological lesions detected by PET-CT in a patient with breast cancer: functional imaging between pitfalls and therapeutic guide
Authors: Gaetano Paone, Simona Di Lascio, Andrea Azzola, Luca Mazzucchelli, Olivia Pagani
Journal: Ecancermedicalscience (2017)
Keywords: 18f-fdg, breast cancer, positron emission tomography, spleen sarcoidosis
MeSH terms: Case Reports

A 60-year-old woman under treatment with letrozole for metastatic breast cancer underwent 18F-FDG PET-CT for restaging. A new widespread intense splenic FDG uptake without nodular lesions and multiple FDG-avid mediastinal and abdominal nodes were observed. Based on these findings, a nodal and transbronchial lung biopsy was performed. Histological results were compatible with sarcoidosis. The patient began steroid treatment and 6 weeks after a PET-CT showed normalisation of both splenic and nodal uptake. In our case, 18F-FDG PET-CT has been useful in detecting a rare case of splenic sarcoidosis without typical nodular lesions on CT images, impacting the patient's treatment and prognosis.
A Case of Neuroleptic Malignant Syndrome in a Profoundly Intellectually Disabled Patient with Successful Reintroduction of Antipsychotic Therapy with Quetiapine
Authors: Kamal Patel, Brandon Lilly, Oluwadamilare Ajayi, Kelly Melvin
Journal: Case Rep Psychiatry (2018)
MeSH terms: Case Reports

Neuroleptic Malignant Syndrome (NMS) is a rare condition clinically characterized by muscle rigidity, hyperthermia, autonomic instability, and acute mental status change. NMS is most often associated with use of high-potency first-generation antipsychotic medications; though, other neuroleptics have been implicated as well. NMS can be fatal with estimated mortality rates as high as 20%. Patients experiencing certain severe complications, including renal failure, have been associated with mortality as high as 50%, stressing the need for early recognition and treatment. Here we present the case of a 54-year-old male that initially presented with symptoms suspicious for sepsis, but who eventually developed a clinical picture consistent with NMS. We describe the diagnostic and treatment process leading to symptom remission. We then discuss our decision to reintroduce an atypical antipsychotic agent, quetiapine. This case illustrates the importance of early recognition of the signs and symptoms of NMS and the need to initiate treatment promptly in order to prevent complications, including death. This case also highlights the decision to resume antipsychotic pharmacotherapy after adequate resolution of NMS, demonstrating that it can be done so safely if started at low doses coupled with intensive monitoring of the patient.
Prenatal diagnosis and postnatal followup of partial trisomy 13q and partial monosomy 10p: a case report and review of the literature
Authors: Yuan Wei, Xuefeng Gao, Liying Yan, Fang Xu, Peining Li, Yangyu Zhao
Journal: Case Rep Genet (2012)

We report prenatal diagnosis and postnatal findings of a fetus with partial trisomy of 13q21.33-qter and partial monosomy of 10p15.3-pter. The mother is a known carrier of a balanced translocation, t(10;13)(p15.3;q21.33), ascertained by history of one miscarriage and two neonatal deaths. The fetal karyotyping on cultured amniocytes showed 46,XX,der(10)t(10;13)(p15.3;q21.33). Oligonucleotide array comparative genomic hybridization (aCGH) defined a 2.339 Mb distal deletion at 10p15.3 (chr10:126,161-2,465,089) and a 46.344 Mb duplication of 13q21.33-q34 (chr13:67,779,708-114,123,540). Ultrasound examination showed polydactyly and polyhydramnios in the fetus. After genetic counseling, the mother decided to continue the pregnancy, and follow-up ultrasound monitoring found no further abnormalities. A girl was delivered at 37(+6) weeks of gestation and was transferred to the intensive care unit for intermittent convulsions within 26 hours. She was diagnosed with neonatal hypoxic ischemic encephalopathy and experienced several episodes of apnea in the following month. Her birth weight was 2900 g (10-25th centile) and at five months was 5500 g (5-10th centile). She had dysmorphic features and mild psychomotor retardation. A review of the literature found three previously reported cases with similar compound 10p/13q abnormalities. We discuss a two-step approach to assess fetal viability and phenotype using genomic information from partial trisomy and monosomy.
Platelet-rich plasma supplemented revascularization of an immature tooth associated with a periapical lesion in a 40-year-old man
Authors: Ganesh Ranganath Jadhav, Naseem Shah, Ajay Logani
Journal: Case Rep Dent (2014)

The present case report is the first of its kind that documents the successful outcome of "revascularization," a regeneration-based treatment protocol in a mature adult patient. It belies the myth that "revascularization" should only be done in children and young, adolescent patients. The misconception that stem cells number as well as viability in older age group patients will not allow revascularization to be successful is also contradicted by this case. The paper highlights all the mechanisms that come into play and the enhancing of regenerative response by supplementation with platelet-rich plasma (PRP).
Isolated left pulmonary artery hypoplasia
Authors: Imen Touil, Nadia Keskes Boudawara, Soumaya Bouchareb, Jalel Knani, Leila Boussoffara
Journal: Pan Afr Med J (2020)
Keywords: hypoplasia, adult, artery, lung
MeSH terms: Cough / etiology, Dyspnea / etiology, Pulmonary Artery / abnormalities, Case Reports, Echocardiography, Humans, Male, Middle Aged, Pulmonary Artery / diagnostic imaging, Radiography, Thoracic, Tomography, X-Ray Computed

Pulmonary artery hypoplasia is a rare malformation of childhood that is usually associated with cardiac abnormalities. In the absence of these cardiac malformations it is discovered later when respiratory signs appear. It was a 56-year-old patient who had been referred for dyspnea with cough. The physical examination was normal. Chest X-ray, thoracic computed tomography (CT) scan and echocardiography suggested the diagnosis of hypoplasia of the left pulmonary artery without associated cardiac malformations. The early diagnosis of hypoplasia of the pulmonary artery allows the close follow-up of these patient and the planning of an adequate management.
Ovarian Vein Thrombosis Complicated by Pulmonary Embolism after Cesarean Delivery in the Presence of a Large Fibroid: Case Report and Literature Review of Contributing Factors
Authors: Elie S Finianos, Stephanie F Yacoub, Mary F Chammas
Journal: Case Rep Obstet Gynecol (2021)
MeSH terms: Case Reports

Ovarian vein thrombophlebitis is rare and mostly occurs during the puerperal period and in higher rates after a cesarean delivery. The objective of this case report and literature review is to highlight the rare occurrence of an ovarian vein thrombosis in a 37-year-old woman postcesarean delivery in the setting of a large uterine fibroid who subsequently developed a pulmonary embolism. The patient presented with severe abdominal pain, fever, and chills. Imaging showed a right ovarian vein thrombosis. Following initiation of anticoagulation therapy, she developed dyspnea and testing showed a subsegmental pulmonary embolism. Further investigation showed that the patient had an undiagnosed thrombophilia thus meeting the classic Virchow triad. Complete clinical recovery was observed, and anticoagulation therapy was continued for 1 year. Our case highlights the importance of recognizing ovarian vein thrombosis because of the risk of fatal complications such as pulmonary embolus. The presence of large fibroids should raise our awareness for OVT in the setting of abdominal pain and fever. The absence of complications in previous pregnancies should not alter our clinical suspicion.
Multimodality Imaging Evaluation of Primary Right Atrial Paraganglioma: A Case Report and Literature Review
Authors: Wen-Peng Huang, Ge Gao, Zhao Chen, Yong-Kang Qiu, Jian-Bo Gao, Lei Kang
Journal: Front Med (Lausanne) (2022)
Keywords: 18f-fdg, pet/ct, case report, heart neoplasms, magnetic resonance imaging, paraganglioma, x-ray computed tomography
MeSH terms: Case Reports

Background:
Cardiac paraganglioma (CPGL) accounts for 1-3% of cardiac tumors and is usually benign. In total, 35-50% of CPGL lesions secrete catecholamines, causing hypertension, excessive sweating, palpitations, headache, and other symptoms. Preoperative imaging evaluation is important to determine the location of the cardiac mass, its blood supply vessels, and the relationship with surrounding structures. Multimodal imaging techniques combine with morphological and functional information to provide powerful methods for preoperative diagnosis and lesion localization. Furthermore, they can assist to reduce the incidence of intraoperative and postoperative complications and improve patient prognosis.
Case report:
A 67-year-old woman suffered from paroxysmal palpitations with a heart rate of 110 beats per minute 1 month ago. Urine catecholamine and methoxyepinephrine levels were significantly increased. The patient had a 5-year history of hypertension with a maximum blood pressure of 160/100 mmHg. Computed tomography (CT) examination found a soft tissue mass in the right atrium with heterogeneous and significant enhancement, whose blood supply was from the left ileal branch artery. The patient then underwent cardiac magnetic resonance (CMR). The lesion showed inhomogeneous iso signals on the T1-weighted image (T1WI), slightly high signals on the T2 fat-suppression image, inhomogeneous high signals on the diffusion-weighted imaging (DWI), and apparent diffusion coefficient (ADC) images. The mass exhibited heterogeneous and significant enhancement on the first perfusion and delayed scans after intravenous contrast injection. However, abnormal signals were surprisingly found in the patient's right lung, and the possibility of metastatic lesions could not be excluded. The patient underwent F-18 fluorodeoxyglucose-positron emission tomography/computed tomography (18F-FDG PET/CT) to rule out metastatic lesions. A fluorodeoxyglucose (FDG)-avid soft tissue mass was shown in the right atrium, with the maximum standardized uptake value (SUVmax) at about 15.2, as well as a pathological intake of brown fat throughout the body. Combined with clinical symptoms, CPGL was considered without significant sign of metastasis in 18F-FDG PET/CT. Finally, the patient underwent surgical resection and the post-operative pathology confirmed a CPGL.
Conclusion:
The combination of 18F-FDG PET/CT with the CMR containing different image acquisition sequences provides a powerful aid for preoperative non-invasive diagnosis, localization, and staging of CPGL, which helps to reduce intraoperative and postoperative complications and improve patient prognosis.
Large Cell Neuroendocrine Carcinoma of the Bladder with Adenocarcinomatous Component
Authors: Rami Halabi, Maher Abdessater, Johnny Boustany, Anthony Kanbar, Halim Akl, Joey El Khoury, Charbel El Hachem, Raghid El Khoury
Journal: Case Rep Urol (2020)
MeSH terms: Case Reports

Large cell neuroendocrine carcinoma (LCNC) is one of the rarest types of bladder cancer occurring in <1%. Either pure or mixed with another component, it remains one of the most aggressive types of bladder cancer. We report a case of LCNC of the bladder with an adenocarcinomatous component. The patient was a 64-year-old smoker male, who presented for the first time with dysuria and hematuria. A bladder tumor invading the anterior and right lateral bladder walls was discovered, without any secondary localizations. Tumor biopsy showed an LCNC with adenocarcinomatous components. The patient was treated by recurrent tumor resections, chemotherapy, and radiotherapy. No improvement was noted despite close follow-up and adequate treatment. Neuroendocrine bladder tumor is known to have an aggressive, rapid, and disadvantageous evolution. Multiple case reports were published so far, and a recent review was conducted in March 2020 by Sanguedolce et al. (2020). More cases are needed to establish the best management plan for this type of tumor.
Fatal retroperitoneal bleeding caused by neurofibromatosis: a case report and review of the literature
Authors: Patrick R Moerbeek, Jesse M van Buijtenen, Baukje van den Heuvel, Arjan W J Hoksbergen
Journal: Case Rep Med (2015)

A young female was brought into the emergency department with pulseless electrical activity (PEA) after local resection of neurofibromateous lesions. Chest ultrasonography was normal. Abdominal ultrasonography was not performed. After successful resuscitation a total body CT-scan was performed to rule out potential bleeding sources. However, haemodynamic instability reoccurred and the scan had to be aborted at the thoracoabdominal level. No thoracic abnormalities were found. Resuscitation was reinitiated and abdominal ultrasonography was performed, showing a large amount of abdominal fluid. A progressive fall in haemoglobin was noted. Emergency laparotomy was performed, revealing a large retroperitoneal haematoma. Despite ligation and packing, bleeding continued. Postoperative angiography showed active bleeding from a branch of the left internal iliac artery, which could be successfully coiled. Unfortunately, the patient died five days later due to irreversible brain damage. Revision of an MRI scan made one year earlier showed a 10 cm large retroperitoneal neurofibromatous lesion exactly at the location of the current bleeding. This case shows that patients with neurofibromatosis might develop spontaneous life-threatening bleeding from retroperitoneal located lesions. Furthermore, it points out the necessity of focused assessment with ultrasonography of the abdomen in all patients with PEA of unknown origin.
Neglected Basal cell carcinomas in the 21st century
Authors: Erika Varga, Irma Korom, Zoltán Raskó, Erika Kis, János Varga, Judit Oláh, Lajos Kemény
Journal: J Skin Cancer (2011)
MeSH terms: Case Reports

Although tumors on the surface of the skin are considered to be easily recognizable, neglected advanced skin neoplasms are encountered even in the 21st century. There can be numerous causes of the delay in the diagnosis: fear of the diagnosis and the treatment, becoming accustomed to a slowly growing tumor, old age, a low social milieu, and an inadequate hygienic culture are among the factors leading some people not to seek medical advice. The treatment of such advanced neoplasms is usually challenging. The therapy of neglected cases demands an individual multidisciplinary approach and teamwork. Basal cell carcinoma (BCC), the most common cutaneous tumor, usually develops in the elderly, grows slowly, and has an extremely low metastatic potential; these factors are suggesting that BCCs might well be the "ideal candidates" for neglected tumors. Five neglected advanced cases of BCC were diagnosed in our dermatological institute between 2000 and 2009. The clinical characteristics and treatment modalities of these neoplasms are discussed, together with the possible causes of the neglect.
Surgical repair of lower extremity vascular injuries in children: two cases
Authors: Mehmet Tasar, Nur Dikmen Yaman, Cahit Saricaoglu, Zeynep Eyileten, Bulent Kaya, Adnan Uysalel
Journal: Case Rep Vasc Med (2014)

The use of percutaneous devices is commonplace for the treatment of many congenital heart defects. However, there are some situations where procedure-related complications are encountered and surgical help is required to ameliorate this issue. Vascular injury due to transcatheter intervention is a significant and challenging complication and occasionally requires surgical approach. In this case report, we aimed to present successful surgical management of vascular injuries associated with percutaneous interventions in children.
Ketamine Use for Cancer and Chronic Pain Management
Authors: Clayton Culp, Hee Kee Kim, Salahadin Abdi
Journal: Front Pharmacol (2021)
Keywords: analgesia, cancer pain, chronic pain, ketamine, ketamine infusion, mechanism of action, neuropathic pain
MeSH terms: Review

Ketamine, an N-methyl-D-aspartate receptor antagonist, is widely known as a dissociative anesthetic and phencyclidine derivative. Due to an undesirable adverse event profile when used as an anesthetic it had widely fallen out of human use in favor of more modern agents. However, it has recently been explored for several other indications such as treatment resistant depression and chronic pain. Several recent studies and case reports compiled here show that ketamine is an effective analgesic in chronic pain conditions including cancer-related neuropathic pain. Of special interest is ketamine's opioid sparing ability by counteracting the central nervous system sensitization seen in opioid induced hyperalgesia. Furthermore, at the sub-anesthetic concentrations used for analgesia ketamine's safety and adverse event profiles are much improved. In this article, we review both the basic science and clinical evidence regarding ketamine's utility in chronic pain conditions as well as potential adverse events.
Mucormycosis Leading to Cerebral Edema and Cerebellar Tonsillar Herniation after Allogeneic Bone Marrow Transplant: A Case Report
Authors: Chetan Jeurkar, Lauren Margetich, Ziver Sahin
Journal: Case Rep Infect Dis (2019)
MeSH terms: Case Reports

Introduction:
Mucormycosis following hematopoietic stem cell transplant (HSCT) carries a very high mortality rate. Pulmonary mucormycosis often leads to systemic dissemination and eventual death. It is imperative for transplant providers to have a high level of suspicion for mucormycosis and initiate early treatment. Here, we present a 64-year-old woman who died of disseminated mucormycosis 13 days following her allogeneic HSCT.
Case presentation:
A 64-year-old female with a history of acute myeloid leukemia (AML) presented for allogeneic HSCT and passed away from intracerebral hemorrhage secondary to mucormycosis infection 13 days following her transplant. On autopsy, it was found she had angioinvasive mucormycosis in her frontal lobe leading to cerebral edema which eventually led to tonsillar herniation and brainstem infarction. Her lungs were the likely source of infectious dissemination.
Discussion:
This case represents an unusual course of events following HSCT in that no other published case shows tonsillar herniation resulting from mucormycosis-related intracerebral swelling. We also report this case because it is believed mucormycosis in HSCT patients is underreported. Additionally, our case highlights the importance of increased vigilance for mucormycosis in patients with prolonged neutropenia prior to HSCT and the potential link of voriconazole prophylaxis and increased risk for mucormycosis.
Computed tomography and magnetic resonance imaging findings in a case with biliary microhamartomas
Authors: Alper Dilli, Umit Yasar Ayaz, Ilhami Yüksel, Cagrı Damar, Sevin Ayaz, Baki Hekimoglu
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Biliary microhamartomas, also known as bile duct hamartomas and von Meyenburg complexes, are benign neoplasms containing cystic dilated bile ducts embedded in fibrous stroma. They develop in hepatobiliary system, do not generally give clinical outcomes, and are detected incidentally. However, they can rarely show malignant transformation. Our aim was to report the contribution of computed tomography, routine magnetic resonance imaging, and magnetic resonance cholangiopancreatography in the diagnosis of biliary microhamartomas in a 61-year-old woman.