OpenMed/multicare-articles huggingface dataset:
Transcatheter intervention in a child with scimitar syndrome
Authors: Zhouping Wang, Xiaoyi Cai
Journal: Cardiovasc J Afr (2016)
MeSH terms: Cardiac Catheterization / instrumentation, Embolization, Therapeutic, Heart Septal Defects, Atrial / therapy, Pulmonary Artery / physiopathology, Pulmonary Circulation, Pulmonary Veins / physiopathology, Scimitar Syndrome / therapy, Case Reports, Aorta / physiopathology, Arterial Pressure, Collateral Circulation, Computed Tomography Angiography, Heart Septal Defects, Atrial / diagnostic imaging, Heart Septal Defects, Atrial / physiopathology, Humans, Infant, Male, Phlebography / methods, Pulmonary Artery / diagnostic imaging, Pulmonary Veins / abnormalities, Pulmonary Veins / diagnostic imaging, Recovery of Function, Scimitar Syndrome / diagnostic imaging, Scimitar Syndrome / physiopathology, Septal Occluder Device, Treatment Outcome, Atrial Septal Defect, Secundum Type

Scimitar syndrome is a rare congenital heart disease characterised by anomalous pulmonary venous drainage to the inferior vena cava, aortopulmonary collaterals, hypoplasia of the right lung and intracardiac defects. Surgical correction remains the gold-standard therapy. However, non-surgical intervention has been reported effective in selected cases with scimitar syndrome. We report on a one-year-old boy with scimitar syndrome who underwent stepwise transcatheter intervention as an alternative treatment. Embolisation of the aortopulmonary collaterals and occlusion of the atrial septal defect were performed using detachable coils and an Amplatzer septal occluder, respectively. The patient's postcathetherisation course was uneventful. The right cardiac chamber and pulmonary arterial pressure returned to normal during follow up.
Hyperparathyroidism in Pregnancy Leading to Pancreatitis and Preeclampsia with Severe Features
Authors: Andrew G Dale, Bradley D Holbrook, Lauren Sobel, Valerie J Rappaport
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

Background. Hyperparathyroidism is underdiagnosed in pregnancy, yet early diagnosis is necessary for the potentially severe sequelae of hypercalcemia for both the woman and fetus. Case. A 31-year-old, gravida 3, para 0-0-2-0 at 32 weeks and 3 days of gestation, presented with preeclampsia with severe features concomitant with acute pancreatitis and known diabetes mellitus type 2. She was stabilized and delivered. In the postpartum period, her total calcium level remained elevated. Ionized calcium levels and parathyroid hormone levels were also elevated, and she was diagnosed with hyperparathyroidism. Conclusion. Hyperparathyroidism and hypercalcemia are risk factors for pancreatitis. Women who develop pancreatitis during pregnancy are at increased risk of developing preeclampsia. If elevated serum calcium is noted, it should be confirmed with ionized calcium level and parathyroid hormones as ionized calcium levels are unaffected by pregnancy.
Case report: Thoughts on two cases of total anomalous pulmonary venous connection complicated with pulmonary artery hypertension
Authors: Ling Yan, Yaxin Zhou, Dayan Li, Lingli Li, Hong Tang
Journal: Front Cardiovasc Med (2023)
Keywords: cardiac surgery, congenital heart disease, echocardiography, pulmonary artery hypertension, total anomalous pulmonary venous connection
MeSH terms: Case Reports

The two primary pathological alterations of total anomalous pulmonary venous connection (TAPVC), a rare cyanotic congenital heart disease (CHD), are right heart failure and pulmonary artery hypertension (PAH). The timing and prognosis of surgery depend on the level of pulmonary hypertension. Surgery will not be an option after Eisenmenger syndrome appears. In light of this, it is crucial to assess patients' PAH. In order to aid in the following treatment of related types of diseases, this article studied and compared the echocardiographic features and disease development of one adult and one child TAPVC patients complicated with PAH.
Multiple Primary Angiosarcomas of the Colon
Authors: Sonja Radić, Mario Zovak, Anita Galović Marić, Stjepan Baturina, Monica Stephany Kirigin, Božo Krušlin
Journal: Case Rep Pathol (2021)
MeSH terms: Case Reports

Introduction:
Gastrointestinal angiosarcomas are rare and represent less than 1% of all gastrointestinal tract malignancies, with most occurring in the stomach and small intestine. Occurrence in the colorectal segments is considered extremely rare. Case Report. We describe the case of a 61-year-old male with multiple primary angiosarcomas of the colon who presented with fever and abdominal pain. The patient was initially hospitalized and treated as having an infectious disease. A multislice computed tomography (MSCT) scan revealed multiple soft tissue tumors in the region of the left iliopsoas and gluteus medius muscles. After developing hematochezia, a colonoscopy was performed which found an ulcerated tumor in the sigmoid colon. The small tissue biopsy taken during the procedure presented diagnostic difficulties and was given a preliminary diagnosis of gastrointestinal stromal tumor (GIST). Examination of the resected colon segment and surrounding fat tissue revealed four separate tumors. Microscopically, the tumors were composed of solid sheets of spindle and epithelioid neoplastic cells with prominent nucleoli and numerous mitotic figures and immunohistochemically positive for ERG, CD31, CD34, vimentin, and CD117, while negative for CK7, CK20, CD20, CD3, CD45, TTF-1, PAN-CK, ALK, Mpox, S-100, and DOG1, leading to the final diagnosis of multiple colonic angiosarcomas. The patient's condition declined rapidly and he passed away from multiple organ failures 60 days after initial hospitalization.
Conclusion:
Both clinical and pathological diagnoses of colorectal angiosarcoma are challenging. Patients are present with nonspecific symptoms leading to mismanagement and late diagnosis. A definitive pathological diagnosis relies on immunohistochemical staining for endothelial markers. Misdiagnosis as poorly differentiated adenocarcinoma or GIST is possible in limited tissue biopsies.
Nonsurgical treatment of two periapical lesions with calcium hydroxide using two different vehicles
Authors: Seema Dixit, Ashutosh Dixit, Pravin Kumar
Journal: Case Rep Dent (2014)

Calcium hydroxide is used extensively as an intracanal medicament in endodontics for many years. It is used in various clinical situations such as to promote apexification, to repair perforation, to enhance healing of periapical lesions, to control root resorption, and to control exudation in teeth with persistent periapical inflammation. This paper presents a case report in which Ca(OH)2 was used as an intracanal medicament for treatment of periradicular lesions using two different vehicles in two different teeth of same patient.
A case of obstructive jaundice due to early carcinoma of the cystic duct protruding into the common bile duct
Authors: Yuhki Sakuraoka, Takashi Suzuki, Genki Tanaka, Takayuki Shimizu, Takayuki Shiraki, Park Kyongha, Shozo Mori, Yukihiro Iso, Masato Kato, Taku Aoki, Keiichi Kubota, Hidetsugu Yamagishi
Journal: Int J Surg Case Rep (2018)
Keywords: case report, early gallbladder cancer, farrar criteria

Introduction:
Cystic duct carcinoma is a rare disease, and only 33 cases reported worldwide have completely fulfilled the criteria first established by Farrar in 1951. Here we describe an extremely rare case of early cystic duct carcinoma that fulfilled the Farrar criteria, the papillary tumour protruding into the common bile duct, leading to obstructive jaundice.
Case presentation:
A 76-year-old man visited a clinic with icteric conjunctivae, and was referred to our hospital for investigation of suspected obstructive jaundice. He was initially diagnosed as having a distal bile duct carcinoma on the basis of ultrasonography (US), endoscopic retrograde cholangiopancreatography (ERCP), and magnetic resonance cholangiography (MRC), and underwent pancreatoduodenectomy with regional lymphadenectomy. Macroscopic examination showed that the stalk of the papillary tumour originated from the cystic duct, and that the protruding lesion was 50 mm in size. Histopathological examination revealed the tumour to be a papillary adenocarcinoma confined within the fibromuscular layer, with no evidence of lymph node metastasis. Therefore, the final diagnosis was early cystic duct carcinoma.
Conclusion:
To our knowledge, this is the first case report of obstructive jaundice due to early carcinoma of the cystic duct protruding into the bile duct, with characteristics fulfilling the Farrar criteria.
Off-clamp laparoscopic partial nephrectomy for a fat-poor angiomyolipoma arising from the renal capsule: a case report
Authors: Koichi Kodama, Yasukazu Takase, Isamu Motoi, Katsuhiko Saito
Journal: Case Rep Urol (2012)

Renal function can be significantly preserved after nephron-sparing surgery by decreasing the intraoperative ischemic duration or by performing off-clamp surgery. We report the case of a 56-year-old woman diagnosed with a minimal-fat angiomyolipoma arising from the renal capsule, which was successfully treated by retroperitoneoscopic partial nephrectomy without hilar clamping. Computed tomography revealed a 16 × 13 mm homogenous lenticular mass protruding from the lateral aspect of the left kidney. On both T1- and T2-weighted magnetic resonance images, the mass exhibited homogenous low-signal intensity and well-defined margins. Laparoscopic magnification indicated that the exophytic tumor was attached to the renal cortex by a small peduncle. The tumor was resected completely with negative surgical margin. The estimated glomerular filtration rate after surgery was nearly equal to that before surgery. Off-clamp laparoscopic partial nephrectomy is a feasible surgical option to prevent ischemic renal damage in select patients presenting with small, exophytic, and peripheral renal masses.
Positive Urine Morphine Test in a Chinese Patient Receiving Methadone Maintenance Treatment After Eating Hot Pot: A Case Report
Authors: Jun Ma, Yafei He, Kuan Zeng, Xuebing Liu
Journal: Front Psychiatry (2020)
Keywords: case report, hot pot, methadone maintenance treatment, poppy shells, urine morphine test
MeSH terms: Case Reports

Poppy shells contain opioids. It is a popular, but illegal spice in China. If these shells are added to food, urine morphine test of the patients involved in methadone maintenance treatment (MMT) can turn out positive. A 44-year-old male patient, who had been receiving MMT for 12 years with an extremely good treatment adherence, presented with positive urine morphine test in routine clinical compliance monitoring. However, the patient denied the use of any opioids recently. Coincidently, all of his four family members (none with a history of heroin abuse) showed positive results in urine morphine test. Considering that all these people ate a hot pot together a day before the test added to the speculation that the positive result could be due to the addition of poppy shell to the hot pot. Based on our results, we propose that this unusual phenomenon is worthy of clinical attention when managing patients at MMT clinics.
Isolated posterior fossa involvement of progressive multifocal leucoencephalopathy in HIV: A case series with review of the literature
Authors: Adziambei Mudau, Farhana E Suleman, Clara M Schutte, Zarina I Lockhat
Journal: SA J Radiol (2017)
MeSH terms: Case Reports

Progressive multifocal leucoencephalopathy (PML) is a progressive demyelinating condition resulting from infection with the John Cunningham virus and precipitated by immunocompromised states. The HIV pandemic, especially in sub-Saharan Africa, has resulted in an increase in the number of patients presenting with PML. Imaging plays an important role in diagnosis and the distribution of the disease is predominantly supratentorial. Isolated posterior fossa involvement is a rare finding with very few cases described in the literature. We present the largest case series of patients described in the literature, with isolated posterior fossa involvement of PML, in HIV-positive patients.
Clozapine-Induced Cardiotoxicity Presenting as Sepsis: A Case Report and Literature Review
Authors: Mazin Khalid, Oluwole Jegede, Vijay Gayam, Ying Chi Yang, Binav Shrestha, Amrendra Mandal, Osama Mukhtar, Pavani Garlapati, Mowyad Khalid, Alix Dufresne
Journal: Case Rep Med (2019)
MeSH terms: Case Reports

Clozapine is an atypical antipsychotic agent indicated in the treatment of medication-resistant schizophrenia. It is often reserved as a last line of treatment owing to the potential for serious and potentially life-threatening side effects, the most serious being agranulocytosis requiring close hematological monitoring and possible discontinuation of the medication from further use in the patient even when the agranulocytosis resolves. Other complications of clozapine include sedation, weight gain, elevated triglyceride levels, postural hypotension, and tachycardia. However, the potentially serious complication of myocarditis, though rare (with an incidence of 3%), may lead to cardiomyopathy as described in our present case. We present a 21-year-old patient who was started on clozapine for management of schizophrenia. He developed fever and tachycardia and was admitted to the medical unit on intravenous antibiotics for management of sepsis as he met the criteria for systemic inflammatory response syndrome. His labs revealed an elevated troponin and trending eosinophilia, which, in the context of clozapine use, raises the suspicion of clozapine cardiotoxicity. Echocardiogram showed reduced systolic function (45%). Clozapine was immediately discontinued, and his repeat echocardiogram showed normalization of his systolic function. In view of the increased prevalence of psychiatric illnesses, internists should be aware of rare but potentially life-threatening side effects.
Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort
Authors: Van Thuan Tran, Sao Trung Nguyen, Xuan Dung Pham, Thanh Hai Phan, Van Chu Nguyen, Huu Thinh Nguyen, Huu Phuc Nguyen, Phuong Thao Thi Doan, Tuan Anh Le, Bao Toan Nguyen, Thanh Xuan Jasmine, Duy Sinh Nguyen, Hong-Dang Luu Nguyen, Ngoc Mai Nguyen, Duy Xuan Do, Vu Uyen Tran, Hue Hanh Thi Nguyen, Minh Phong Le, Yen Nhi Nguyen, Thanh Thuy Thi Do, Dinh Kiet Truong, Hung Sang Tang, Minh-Duy Phan, Hoai-Nghia Nguyen, Hoa Giang, Lan N Tu
Journal: Front Oncol (2022)
Keywords: brca1, carrier frequency, genetic carrier screening, hereditary cancer syndrome, pathogenic variant

Background:
Hereditary cancer syndromes (HCS) are responsible for 5-10% of cancer cases. Genetic testing to identify pathogenic variants associated with cancer predisposition has not been routinely available in Vietnam. Consequently, the prevalence and genetic landscape of HCS remain unknown.
Methods:
1165 Vietnamese individuals enrolled in genetic testing at our laboratory in 2020. We performed analysis of germline mutations in 17 high- and moderate- penetrance genes associated with HCS by next generation sequencing.
Results:
A total of 41 pathogenic variants in 11 genes were detected in 3.2% individuals. The carrier frequency was 4.2% in people with family or personal history of cancer and 2.6% in those without history. The percentage of mutation carriers for hereditary colorectal cancer syndromes was 1.3% and for hereditary breast and ovarian cancer syndrome was 1.6%. BRCA1 and BRCA2 mutations were the most prevalent with the positive rate of 1.3% in the general cohort and 5.1% in breast or ovarian cancer patients. Most of BRCA1 mutations located at the BRCA C-terminus domains and the top recurrent mutation was NM_007294.3:c.5251C>T (p.Arg1751Ter). One novel variant NM_000038.6(APC):c.6665C>A (p.Pro2222His) was found in a breast cancer patient with a strong family history of cancer. A case study of hereditary cancer syndrome was illustrated to highlight the importance of genetic testing.
Conclusion:
This is the first largest analysis of carrier frequency and mutation spectrum of HCS in Vietnam. The findings demonstrate the clinical significance of multigene panel testing to identify carriers and their at-risk relatives for better cancer surveillance and management strategies.
Combined Hamartoma of the Retina and Retinal Pigment Epithelium in a Patient with Gorlin Syndrome: Spontaneous Partial Resolution of Traction Caused by Epiretinal Membrane
Authors: José L Sánchez-Vicente, Miguel Contreras-Díaz, Trinidad Rueda, Enrique Rodríguez de la Rúa-Franch, Fredy E Molina-Socola, Cristina Vital-Berral, Asunción Alfaro-Juárez, Fernando López-Herrero, Ana Muñoz-Morales
Journal: Case Rep Ophthalmol Med (2016)

Purpose. To describe the case of spontaneous resolution of epiretinal membrane in a patient with Combined Hamartoma of the Retina and Retinal Pigment Epithelium (CHR-RPE), in the clinical context of Gorlin Syndrome (GS). Methods. Observational case report of a 12-year-old female patient is presented. The diagnosis of CHRRPE was made by OCT and fundus examination, which showed a mound of disorganized tissue originating from retina and retinal pigment epithelium. Epiretinal membrane (EM) was also detected. Genetic study was performed to confirm the diagnosis of GS. Results. The patient was observed for 39 months, showing spontaneous resolution of the traction caused by the EM and improvement in visual acuity (VA), which was 20/80 at initial presentation, rising to 20/40 after follow-up period. Conclusions. The presence of EM in CHR-REP is a cause of reduction of visual acuity. Management of this condition is controversial; however, we would like to highlight that spontaneous resolution of the traction caused by EM is possible, resulting in recovery of VA.
Case Report: Identification of a Novel GNAS Mutation and 1p/22q Co-Deletion in a Patient With Multiple Recurrent Meningiomas Sensitive to Sunitinib
Authors: Weiping Hong, Changguo Shan, Minting Ye, Yanying Yang, Hui Wang, Furong Du, Xing Zhang, Chao Song, Linbo Cai
Journal: Front Oncol (2021)
Keywords: 1p/22q co-deletion, gnas mutation, next-generation sequencing, refractory meningioma, sunitinib

Background:
Although surgical resection can cure the majority of meningiomas, there are still approximately 20% of patients suffering from an aggressive course with recurrence or progression. In this study, we reported a novel GNAS mutation and 1p/22q co-deletion responding to sunitinib in a patient with multiple recurrent meningiomas.
Case presentation:
A 53-year-old woman with meningioma was hospitalized due to postoperative tumor progression for 3 weeks. WHO grade I meningioma was pathologically diagnosed after the first three surgeries, but the second recurrence occurred approximately 3 years following the third surgery. Next-generation sequencing was performed on the first two recurrent samples. GNAS mutations and 1p/22q co-deletion were both identified, and amplification at 17q and chromosome 19 was also found in the second recurrent sample, based on which WHO grade II/III meningioma was diagnosed. The lesion in the left cerebellopontine angle area enlarged after use of radiotherapy combined with temozolomide chemotherapy for 2 months. When sunitinib was added, the residual lesions began to lessen and continuously reduced.
Conclusion:
This typical case suggested that timely molecular diagnosis for refractory meningiomas contributed to guiding the molecular classification and clinicians to make more reasonable individualized therapeutic regimens, consequently benefiting the patients. This case report also highlighted the potential role of sunitinib in the treatment of refractory meningiomas.
A case of thyroxine (T4) toxicosis complicated by thyroid storm with an unusual precipitant
Authors: Akolade O Idowu, Oluwaseyitan Andrew Adesegun, Bamikole Osibowale, Theophilus Ajiro, Daniel Ezuduemoih, Ayokunle Osonuga
Journal: Caspian J Intern Med (2020)
MeSH terms: Case Reports

Background:
Thyrotoxicosis, though commonly encountered in endocrinology practice in Nigeria, seldom presents solely as thyroxine (T4) toxicosis. Thyroid storm, a known life-threatening complication of thyrotoxicosis, can be precipitated by myriad factors. Fine need aspiration for cytology is not known, and has not been previously reported (to the best of our knowledge) to precipitate thyroid storm.
Case presentation:
The case described is that of a 55 year old woman who presented with a neck swelling and features of hyperthyroidism, with biochemical parameters in keeping with T4 toxicosis. Investigating the patient necessitated a fine needle aspiration of the thyroid swelling. The patient thereafter developed hyper-metabolic features, and subsequently progressed to confusion and loss of consciousness few hours following the procedure. Close monitoring and medical management with anti-thyroid and other supportive therapies, resulted in an improved clinical condition.
Conclusion:
T4 toxicosis is a distinct biochemical entity of clinical significance. Physicians should bear in mind that micro-trauma from an investigation such as fine needle aspiration of the thyroid gland can tilt a thyrotoxic patient into thyroid storm, and this risk should be considered and prepared for by physicians and patients.