OpenMed/multicare-articles huggingface dataset:
A Case of Hypotonia-Cystinuria Syndrome With Genito-Urinary Malformations and Extrarenal Involvement
Authors: Francesca Taroni, Valentina Capone, Alfredo Berrettini, Erika Adalgisa De Marco, Gian Antonio Manzoni, Giovanni Montini
Journal: Front Pediatr (2019)
Keywords: cakut, prepl, slc3a1, cryptorchidism, hypotonia cystinuria syndrome, patent foramen ovale
MeSH terms: Case Reports

Hypotonia-Cystinuria syndrome (HCS) is a rare disease, caused by a mutation in two contiguous genes (SLC3A1 and PREPL) localized on chromosome 2p21, and it is characterized by both renal involvement with cystine stones and nervous involvement with hypotonia. We here describe a 2 years old child with HCS associated with other clinical features as congenital anomalies of kidney and urinary tract (primary obstructed megaureter, POM), cryptorchidism and cardiac involvement (patent foramen ovale with atrial septum aneurysm). To the best of our knowledge, cryporchidism and POM have never been reported before in patients with HCS. Moreover, a cardiac involvement has been described only in another case of HCS that, interestingly, presents the same genetic abnormalities as our patient. The diagnosis of HCS can be difficult because neurological signs are aspecific and kidney stones are commonly absent during the first months of life. A better understanding of the complete clinical scenario associated with HCS can help clinicians suspect, diagnose and treat HCS earlier with a positive influence on both neurological and renal outcome.
Successful treatment of acute respiratory distress syndrome caused by hypervirulent Klebsiella pneumoniae with extracorporeal membrane oxygenation and continuous renal replacement therapy: A case report and literature review
Authors: Wenzhong Peng, Yanhao Wu, Rongli Lu, Yunpeng Zheng, Jie Chen, Pinhua Pan
Journal: Front Med (Lausanne) (2022)
Keywords: acute respiratory distress syndrome (ards), continuous renal replacement therapy (crrt), extracorporeal membrane oxygenation (ecmo), hypervirulent klebsiella pneumoniae (hvkp), septic shock
MeSH terms: Case Reports

Hypervirulent Klebsiella pneumoniae (hvKP) causes invasive infections and leads to high morbidity and mortality rates. Here, we report the case of a Chinese man with diabetes mellitus who developed acute respiratory distress syndrome and septic shock due to hvKP belonging to the K1 strain. The patient was treated with venovenous extracorporeal membrane oxygenation and continuous renal replacement therapy, in combination with antibiotics and recovered well. Clinicians should be aware of fatal infections caused by hvKP and investigate the best treatment options for patients at various stages of infection.
Systemic Bevacizumab for Severe Recurrent Respiratory Papillomatosis
Authors: Swetha Tatineni, Zachary Warren, Mark A Applebaum, Fuad M Baroody
Journal: Case Rep Oncol Med (2022)
MeSH terms: Case Reports

Recurrent respiratory papillomatosis (RRP) is the most common benign pediatric laryngeal neoplasm. Various adjuvant medical therapies have failed to reliably decrease surgical frequency in this challenging airway disease. Recently, systemic bevacizumab has shown promise in advanced, treatment-resistant papillomatosis. We describe the use of systemic bevacizumab in two children with severe RRP unresponsive to other therapies. Voice and breathing improved dramatically in both patients with minimal side effects. Both patients have not required surgery in 24 months and 16 months, respectively. Systemic bevacizumab is a promising long-term treatment for severe RRP, with oncology playing an important role in patient care.
Vulvar pyogenic granuloma in a postmenopausal woman: case report and review of the literature
Authors: Deniz Cemgil Arikan, Gurkan Kiran, Hamide Sayar, Bulent Kostu, Ayhan Coskun, Hakan Kiran
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Introduction. Although pyogenic granulomas (PG) are common and benign vascular proliferations of the skin and mucous membranes, they are relatively rare on the vulva. Case Presentation. A 57-year-old G7P7 postmenopausal woman presented with a 3-year history of a foul smell and bleeding lesions in the genital region. A gynecologic examination revealed multiple large papillomatous, pedunculated, and lobulated lesions that were cherry-red and infective in appearance. There was a 2-cm lesion at the upper intersection of the labia majora, a 2-cm lesion on the right labium majus, and a 4-cm lesion on the clitoris. The patient complained of itching, and the lesions were asymptomatic, except for occasional bleeding. All lesions were excised and sent for histopathological examination, which revealed an ulcerated polypoidal structure with extensive proliferation of vascular channels lined by a single layer of endothelium. The histopathological features were consistent with PG. Conclusion. The present case is the first case of multiple pyogenic granulomas on the vulva in a postmenopausal woman.
Complete Recovery from COVID-19 Bilateral Pneumonia in an Immunosuppressed Man with Immune-Mediated Necrotizing Myopathy
Authors: Thomas C Bolig, Nada Abdulaziz, Elena Schiopu
Journal: Case Rep Rheumatol (2020)
MeSH terms: Case Reports

Immune-mediated necrotizing myopathy (IMNM) is a rare form of idiopathic immune myopathy (IIM) that requires immunotherapies, including immunosuppressive medications, if severe. There is a paucity of data regarding outcomes of patients with immune-mediated polymyositis who continue immunosuppressive medications during the COVID-19 pandemic. This is the first reported case of COVID-19 in a patient with IMNM. Despite being on two immunotherapies, having risk factors, and having radiographic abnormalities on chest X-ray, the patient had an unremarkable COVID-19 course. He was discharged from the emergency department with a 7-day course of azithromycin and quickly resumed his immunotherapies, but he experienced a flare in his myositis. The 14-week follow-up computed tomography (CT) was negative for residual pneumonitis or fibrosis. More data are needed regarding management and prognosis of patients with connective tissue diseases who become infected with SARS-CoV-2.
Sinoatrial Nodal Artery Arising from the Right Posterolateral Artery: A Rare Anatomical Variant
Authors: Parviz-Ali Lotfian, Arun Umesh Mahtani, Seyed Zaidi, Richard Grodman
Journal: Methodist Debakey Cardiovasc J (2022)
Keywords: nstemi, anatomical variation, coronary circulation, coronary vessels
MeSH terms: Coronary Vessels, Sinoatrial Node, Case Reports, Aged, Humans, Male

We discuss a case report of a 66-year-old male with no prior cardiac history who presented to the hospital with persistent hiccups and shortness of breath. Following a positive nuclear stress test and cardiac catheterization, a rare anatomical variant of a sinoatrial nodal artery originating from the right posterolateral artery was revealed.
Successful Management of Airway and Esophageal Foreign Body Obstruction in a Child
Authors: Naoki Yogo, Chiaki Toida, Takashi Muguruma, Masayasu Gakumazawa, Mafumi Shinohara, Ichiro Takeuchi
Journal: Case Rep Emerg Med (2019)
MeSH terms: Case Reports

Foreign body asphyxia is a serious clinical problem with high morbidity and mortality rates. It is relatively common among children, especially those younger than 3 years, because they have a high risk of aspirating foreign bodies owing to their tendency to place objects in their mouth and lack of a well-developed swallowing reflex. Moreover, the neurologic outcome after out-of-hospital cardiac arrests (OHCA) in pediatric patients remains generally poor. Here, we report an unusual pediatric case of asphyxial OHCA caused by foreign bodies obstructing the airway, complicating esophageal foreign body, with a neurologically favorable outcome. This case highlights the importance of adequate treatment for pediatric patients with OHCA, as well as the prompt and efficient management for pediatric patients with foreign bodies obstructing the airway and esophagus.
Case report: The presence of third-degree atrioventricular block caused by pulmonary embolism masquerading as acute ST-segment elevation myocardial infarction
Authors: Min Ma, Shichu Liang, Yong He, Hua Wang
Journal: Front Cardiovasc Med (2023)
Keywords: acute myocardial infarction, imaging, intracerebral hemorrhage, pulmonary embolism, third-degree atrioventricular block
MeSH terms: Case Reports

Background:
Pulmonary embolism (PE) typically presents with chest pain, tachypnea, hemoptysis, syncope, and increased markers of myocardial injury. On an electrocardiogram (ECG), sinus tachycardia, right bundle branch block (RBBB), S1Q3T3 pattern, and/or precordial T-wave inversion may be observed. Despite being one of the common causes of chest pain, a third-degree atrioventricular block (III° AVB) is rare in cases of PE, which can lead to difficulties in diagnosis or even overlooking this condition.
Case summary:
In this case report, we present a patient who was transferred to our hospital with suspected acute myocardial infarction (AMI). The patient's ECG showed ST-segment elevation in the inferior wall and a III° AVB, combined with significantly increased markers of myocardial injury. Interestingly, the patient also had a history of cerebral hemorrhage (ICH) for 7 days prior to being transferred to our hospital. After undergoing a systematic examination and evaluation, the final diagnosis for the patient was PE.
Conclusions:
In addition to considering common symptoms, it is important not to overlook rare symptoms when diagnosing a disease. This case serves as an example of how the misdiagnosis rate for PE can be reduced by conducting a comprehensive clinical evaluation and paying attention to all clinical clues and examination results.
Synchronous adrenal metastasis and an inferior vena cava tumor thrombus from an ovarian carcinoma
Authors: Hiroyuki Tokue, Azusa Tokue, Yoshito Tsushima
Journal: J Ovarian Res (2014)
MeSH terms: Adrenal Gland Neoplasms / secondary, Carcinoma / complications, Carcinoma / secondary, Ovarian Neoplasms / complications, Ovarian Neoplasms / pathology, Vena Cava, Inferior / surgery, Venous Thrombosis / etiology, Case Reports, Adrenal Gland Neoplasms / surgery, Adrenalectomy, Biopsy, Carcinoma / surgery, Female, Humans, Hysterectomy, Magnetic Resonance Imaging, Middle Aged, Ovarian Neoplasms / surgery, Ovariectomy, Salpingectomy, Thrombectomy, Time Factors, Tomography, X-Ray Computed, Treatment Outcome, Venous Thrombosis / diagnosis, Venous Thrombosis / surgery

A 60-year-old woman presented with synchronous adrenal metastasis and an inferior vena cava tumor thrombus in the adrenal vein that developed from an ovarian carcinoma. The patient underwent total abdominal hysterectomy, bilateral salpingo-oophorectomy, and right adrenalectomy with caval tumor thrombectomy for treatment. Microscopic examination revealed a clear cell ovarian carcinoma and a metastatic adrenal tumor. The patient is clinically free of disease after 6 years of follow-up. There have been no reports of synchronous adrenal metastasis with an inferior vena cava thrombus that developed from an ovarian carcinoma. As several reports have described the long-term survival after adrenalectomy for the treatment of isolated adrenal metastasis, clinicians should be aware of this potential occurrence so that patients can be appropriately treated.
A Rare Anatomical Finding: Bilateral Accessory Mental Foramen
Authors: Zülfikar Karabıyık, Mustafa Kıranatlı
Journal: Case Rep Dent (2021)
MeSH terms: Case Reports

Aim:
Accessory mental foramen (AMF) is a not common anatomical variation. During the surgical procedures involving the mandible such as implant surgery, periapical surgery, jaw surgeries, and periapical surgery and enucleation of pathologies at the mental region, obvious attention should be given to prevent postoperative sequelae. Case Report. Orthopantomograph (OPG) is routinely taken to visualize the maxillofacial region at a dental clinic. OPG shows exactly upper and lower jaw and teeth but superficially reveals some pathology or anatomic variation. It misses sometimes an anatomic landmark such as AMF. As the surgery is planned to a maxillofacial region, a detailed knowledge should be known before going into surgery to not interfere with anatomic landmarks. A 52-year-old male patient was referred to Kütahya Health Science University Dental Hospital, Turkey, to rehabilitate his bilateral partial edentulous lower jaw region. Implant surgery was planned in our patient. OPG was taken to evaluate the maxillofacial region but was unremarkable. Before the implant surgery, CBCT was obtained from our patient. CBCT and a three-dimensional reconstructed model of the male patient showed bilateral accessory mental foramen (AMF).
Conclusion:
Accessory mental foramen (AMF) carries additional innervation to the chin, mandibular anterior gingiva, and mental region. Reflection and protection of the AMF during the surgery can prevent hemorrhage and neurosensory disturbance at the mental region and can improve quality of life for the patient. CBCT has higher precision but also a higher price and radiation dose. Although anatomical variations are uncommon, they can be found on digital panoramic radiographs but in limited percentage.
A 14-Year Follow-Up of a Combined Liver-Pancreas-Kidney Transplantation: Case Report and Literature Review
Authors: Geng Zhang, Weijun Qin, Jianlin Yuan, Changsheng Ming, Shuqiang Yue, Zhengcai Liu, Lei Yu, Ming Yu, Xiaokang Gao, Yu Zhou, Longxin Wang, Xiaojian Yang, Kefeng Dou, He Wang
Journal: Front Med (Lausanne) (2020)
Keywords: diabetes mellitus, liver, pancreas, renal, simultaneous transplantation
MeSH terms: Case Reports

Objective: To investigate the long-term effect of triple organ transplantation (liver, kidney, and pancreas) in a patient with end-stage liver disease, post chronic hepatitis B, cirrhosis, chronic renal failure, and insulin-dependent diabetes mellitus caused by chronic pancreatitis and to explore the optimal surgical procedure. Case: A 43-year-old man with progressive emaciation and hypourocrinia for 2 months. Results indicated exocrine pancreatic insufficiency and insulin-dependent diabetes related to chronic pancreatitis (CP) after developing end-stage hepatic and renal failure. Simultaneous piggyback orthotopic liver and heterotopic pancreas-duodenum and renal transplantation was performed in 2005. Pancreatic exocrine secretions were drained enterically to the jejunum, and the donor kidney was placed in the left iliac fossa. Patient was prescribed with prednisone, tacrolimus, mycophenolate mofetil, Rabbit Anti-human Thymocyte Immunoglobulin, and simulect for immunosuppression. Results: Satisfactory hepatic and pancreatic functional recovery was achieved within 7 days post-surgery. The kidney was not functional, and continuous renal replacement therapy was used. However, the donor kidney was removed at day 16 post-surgery due to acute rejection reaction. A new renal transplantation at the same position was performed, and satisfactory kidney function from the new graft was achieved 3 days later. In 14 years of follow-up, patient has not had any rejection reactions or other complications such as pancreatitis, thrombosis, and localized infections. The patient is insulin independent with normal liver and renal functions. FK506+Pred was used for immunosuppression, and the tac tough level maintained 3.0-4.5 ng/ml. Lamivudine was prescribed for long-term use to inhibit HBV virus duplication. Conclusion: Simultaneous piggyback orthotopic liver and heterotopic pancreas-duodenum and renal transplantation is a good therapeutic option for patients with exocrine pancreatic insufficiency and insulin-dependent diabetes combined with hepatic and renal failure.
Larotrectinib treatment for infantile fibrosarcoma in newborns: a case report and literature review
Authors: Dandan Wang, Fanhui Zhang, Wanli Feng, Jiarong Pan, Tianming Yuan
Journal: Front Oncol (2023)
Keywords: etv6-ntrk3, infantile fibrosarcoma, larotrectinib, newborn, treatment
MeSH terms: Case Reports

Infantile fibrosarcoma (IFS) is a rare tumor in childhood characterized by a single, localized, painless mass that grows rapidly but has a relatively indolent biological behavior and a favorable prognosis. Eighty-five percent of infantile fibrosarcomas are associated with t (12;15) (p13;25) chromosomal translocation resulting in ETV6-NTRK3 gene fusion, which provides the target for targeted therapy. Here, we report a case of IFS in a newborn with a mass in the left lower extremity confirmed by imaging, histopathological examination, tissue FISH testing, and high-throughput sequencing to detect gene rearrangement. Based on gene fusion targeted drug testing results, the patient was treated with standard doses of larotrectinib, resulting in significant mass shrinkage with no adverse effects, demonstrating the treatment effect of targeted therapy. This case provides a reference for using larotrectinib in newborns with IFS.
Case report: Disseminated histoplasmosis in a renal transplant recipient from a non-endemic region
Authors: Brian Chang, Tawny Saleh, Cameron Wales, Lawrence Kuklinski, Prerana Malla, Shangxin Yang, David Fuller, Karin Nielsen-Saines
Journal: Front Pediatr (2022)
Keywords: disseminated histoplasmosis, immunosuppression, pathology, pediatric, renal transplant
MeSH terms: Case Reports

Histoplasmosis is the most common endemic fungal infection in the USA. The majority of cases are asymptomatic and have clear exposure to endemic regions. In contrast, we present an adolescent immunocompromised patient with systemic and relatively non-specific symptoms including abdominal pain, weight loss, lower extremity edema, and scabbing skin lesions, without known exposure to endemic areas for histoplasmosis. Histologic analysis of gastrointestinal and skin biopsies eventually revealed a diagnosis of disseminated histoplasmosis; the patient was successfully treated with amphotericin B followed by itraconazole maintenance therapy. Ultimately, a high bar of suspicion for fungal disease must be maintained in immunosuppressed individuals even without apparent exposure history to endemic areas. This case report serves as a valuable reference for practitioners evaluating differential diagnosis of infections in immunocompromised patients.
Unilateral Giant Varicocele Mimicking Inguinal Hernia Resulting from Portosystemic Shunt without Evidence of Portal Hypertension: An Unusual Case Report
Authors: Muhammed Zahir, Hassan R Al Muttairi, Surjya Prasad Upadhyay, Piyush N Mallick
Journal: Case Rep Surg (2013)

Isolated giant varicocele has been reported with portal hypertension that results in abnormal communication between portal venous system and testicular vein venous system resulting in retrograde backflow of blood into the testicular venous system which leads to varicosity of the pampiniform plexuses. 65-year-old male with no past medical or surgical history presented to us with soft inguinoscrotal swelling that disappears on lying down mimicking inguinal hernia. Clinical examination revealed soft inguionoscrotal swelling that disappears on pressure. Ultrasonography revealed varicosity of pampiniform plexus, and CT angiography to trace the extent of the varicosity revealed abnormal communication of right testicular vein with superior mesenteric vein. There was no evidence of any portal hypertension; the cause of the portosystemic shunt remains obscure, and it might be a salvage pathway for increasing portal pressure. The case is noteworthy for its rare presentation and abnormal communication with portal venous system in the absence of evidence of portal hypertension.
Recurrent Syncope following Substance Abuse; a Case Report
Authors: Forod Salehi, Mohammad Mehdi Hassanzadeh Taheri, HamidReza Riasi, Omid Mehrpour
Journal: Emerg (Tehran) (2017)
Keywords: 4-methylenedioxyamphetamine, n-methyl-3, substance-related disorders, amphetamine, case report, syncope
MeSH terms: Case Reports

Drug abuse is considered as the most common poisoning in the world. Stimulants agent especially amphetamines and methamphetamines are among important abused substances. Different types of neurologic, psychiatric, respiratory, gastrointestinal, and cardiogenic complications have been reported to be related to methamphetamine consumption. Some of these substances could cause dysrhythmias which is the most prevalent etiology of cardiogenic syncope. Ecstasy, as one of the most commonly abused drugs, is known as a cause of cardiac dysrhythmias. Here we report a young boy who was admitted into the emergency department following three syncope attacks. All cardiac and neurologic assessments were normal; and finally ecstasy abuse was detected as the main etiology of syncopes.
Asymptomatic Right Ventricular Hypoplasia in Twin Siblings: A Normal Variant or Cause of Early Mortality?
Authors: Amna Qasim, Soham Dasgupta, Ashraf M Aly
Journal: Case Rep Pediatr (2019)
MeSH terms: Case Reports

Right ventricular (RV) hypoplasia may develop secondary to pulmonary or tricuspid valve atresia. These patients are usually symptomatic early in life and need prompt intervention. Isolated RV hypoplasia is a rare congenital heart disease. We report a case of 23-year-old twins who have been monitored for the last 14 years for isolated right ventricular hypoplasia. ECHO and MRI studies showed a small, heavily trabeculated, nonapex-forming RV and mild tricuspid valve insufficiency. The girl has a patent foramen ovale (PFO). Otherwise, the cardiac anatomy and function was normal. They have both been completely asymptomatic from the cardiac standpoint. The family history is remarkable for death of father at the age of 30 years with autopsy suggestive of a hypoplastic RV. The paternal uncle also died at the age of 46 years, and his son has an unidentified congenital heart disease. The family history appears to suggest an autosomal dominant pattern of inheritance with variable expressivity. However, the chromosome microarray analysis of the twins did not identify any variations of clinical significance.
Case Report: Pathogenesis With a Rare RHOA A161E Mutation in a Patient With Angioimmunoblastic T-Cell Lymphoma
Authors: Lihong Cao, Hongyan Tong, Xing Liu, Yingqing Xu, Fang Yu, Qi Pan, Jin Lai, Jian Huang, Jiayue Qin, Jie Jin
Journal: Front Genet (2022)
Keywords: rhoa a161e mutation, angioimmunoblastic t-cell lymphoma, case report, hypereosinophilia, variant allele frequency
MeSH terms: Case Reports

Angioimmunoblastic T-cell lymphoma (AITL) genomic abnormalities are highly disease-specific, and the ras homology family member A (RHOA) gene is one of the most recurrent mutated genes, especially for RHOA G17V mutation site. Here, we identified a rare RHOA A161E mutation in an AITL patient through gene sequencing platforms. The patient presented with persistent hypereosinophilia, asymptomatic or symptomatic mildly for over 3 years. At diagnosis, this patient manifested night sweats, weight loss, multiple lymphadenopathies, and enlargement of the liver and spleen. We performed a retrospective genetic mutation analysis by whole-exome sequencing (WES) and droplet digital PCR (ddPCR) on serial gastric, intestinal, and lymph node specimens. The genetic mutation testing result demonstrated that a rare RHOA A161E mutation was found, which was elevated significantly on diagnosis related to AITL pathogenesis. Our case confirms that genetic mutation testing is helpful for diagnostic classification in AITL and dynamic monitoring of gene mutations at multiple time points may facilitate early detection of disease diagnosis.