OpenMed/multicare-articles huggingface dataset:
First-ever Ischemic Stroke after a Flight in a Patient with Prior Poliomyelitis
Authors: Cheng-Chiang Chang, Shin-Tsu Chang, Chih-Hung Ku, Shang-Lin Chiang, Hsiao-Ying Chang, Min-Hsin Lai, Kao-Chung Tsai, Liang-Cheng Chen
Journal: Clin Med Pathol (2008)
Keywords: anticardiolipin antibodies, cabin pressurization, decompression sickness, dehydration, ischemic stroke, poliomyelitis
MeSH terms: Case Reports

Survivors of poliomyelitis sometimes travel by air with mobility assistance. However, prolonged seating during long-haul flights may also possibly produce stroke events on polio-inflicted patients. A 48-year-old polio-inflicted male suffered a stroke after an extended flight. A two-dimensional echocardiography was normal without detected patent foramen ovale or dyskinetic segment. The venodynamic variables were all within normal limits. MR Imaging studies revealed acute cerebral infarction in the distribution of the right middle cerebral artery and posterior watershed area. Hematological examination revealed positive anti-cardiolipin IgG antibody which might contribute to the risk of thrombosis as an underlying condition in addition to immobilization. This is the first presentation of ischemic stroke after a flight in a patient with prior poliomyelitis. In addition to decompression sickness, economy class stroke syndrome and postpoliomyelitis syndrome, the physician should also take other coagulation disorders into consideration during the investigation.
Long survival in a patient with brain metastases from breast cancer
Authors: Sanna G, Petralia G, Cossu Rocca M, Marenghi C, Nolè F
Journal: Clin Med Oncol (2008)
Keywords: advanced breast cancer, brain metastases, treatment
MeSH terms: Case Reports

The incidence of brain metastases (BMs) is apparently rising in patients with advanced breast cancer, possibly due to better therapeutic approaches for control of metastatic growth in other organs. Occurrence of BMs severely affects quality of life and is associated with dire prognosis. In this short report we describe the clinical case of a 47 year old woman, with BMs from breast cancer diagnosed in May 2001. The patient was treated with whole brain irradiation and radiosurgery, with initial control of BMs. Due to previous radiotherapy fields and doses, further local treatments are not feasible anymore. Since September 2006, the patient has been receiving systemic therapy with Lapatinib at the dose of 1500 mg/die continuously, with a good control of cerebral, liver and nodal metastasis after one year of treatment (September 2007). Her quality of life is acceptable, her Karnofsky Performance Status (KPS) is more than 70%, and she takes care of her family, and has not experienced neuro-cognitive dysfunction.
Waldenstrom's Macroglobulinemia: A Report of Two Cases, One with Severe Retinopathy and One with Renal Failure
Authors: Naoko Kudo, Masakatsu Usui, Yukiharu Nakabo, Ken-Ichi Yoshida, Kenji Miki, Takashi Osafune, Keisuke Nishimura, Shinsaku Imashuku
Journal: Case Rep Hematol (2017)
MeSH terms: Case Reports

We report here two cases of Waldenstrom's macroglobulinemia (WM), one with central nervous system (CNS) symptoms and severe retinopathy and one with renal failure. In both cases, the serum IgM levels exceeded 3,000 mg/dL and monoclonal IgM-kappa was observed in the blood. At onset, Case 1, a 63-year-old female, developed CNS symptoms-namely, drowsiness and syncope. Case 2, a 58-year-old male, had nausea and dysgeusia on admission associated with renal failure, which is quite rare in patients with WM. Both patients exhibited hyperviscosity-related retinopathy, but it was particularly severe in Case 1: she suddenly lost her vision after admission. However, her vision recovered completely during treatment. Case 2 required hemodialysis immediately after admission. Needle biopsy of his kidney revealed tubulointerstitial nephritis with marked infiltration with CD20-positive lymphoplasmacytic lymphoma cells. After treatment, Case 1 has been in a remission longer than 8 years, but Case 2 died of pneumonia in 6 months. Since the initial symptoms of WM are ambiguous and vary significantly and hyperviscosity-related ophthalmological problems or severe renal dysfunction can arise, it is essential to promptly measure serum IgM levels and to institute appropriate care immediately when WM is confirmed in a patient.
Necrotizing Fasciitis Secondary to Aeromonas Infection Presenting with Septic Shock
Authors: Nikhil Bhatia, Manuel Castro-Borobio, John N Greene, Sowmya Nanjappa
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

This report describes a case of necrotizing fasciitis presenting with septic shock due to an Aeromonas infection. The patient cut his foot while mowing the lawn and then spent time in a pool with black mold. He began feeling ill and developed swelling and a quarter-sized black area on his right lower extremity. Despite being hemodynamically unstable with systolic blood pressure in the low 70s, the patient was transferred to our facility from outside hospital 100 miles away. Upon arriving to facility, the patient appeared to be septic and the infected area of skin had grown. Irrigation and debridement were performed and appropriate antibiotic therapy was given; however, the patient subsequently died on hospital day 8. On review of the literature, cases of necrotizing fasciitis due to Aeromonas infection have been treated successfully with the aforementioned therapy; however, there is high mortality associated with these infections, many times related to a delayed diagnosis. Our patient also had multiple poor prognostic factors including hepatic dysfunction and immunosuppression.
Synchronous renal malignancy presenting as recurrent urinary tract infections
Authors: G Dutta, D Silver, A Oliff, A Harrison
Journal: Case Rep Urol (2011)
MeSH terms: Case Reports

Renal cell carcinoma (RCC) and urothelial carcinoma of the upper urinary tract are not uncommon urological malignancies. Their simultaneous occurrence in a patient is, however, extraordinarily rare. We report the case of a patient who underwent unilateral nephrectomy for suspected RCC and diagnosed transitional cell carcinoma of the superior pelvis. Preoperative imaging was suspicious for renal pelvic involvement, which was confirmed upon performing cystoscopy and biopsy of the suspected lesion preoperatively. This preoperative approach was especially appropriate as a nephron saving procedure was being considered prior to the discovery of the synchronous lesion. We discuss this rare simultaneous occurrence of synchronous malignancies in the same kidney.
A Case of Cytomegalovirus-Induced Oral Ulcer in an Older Adult Patient with Nephrotic Syndrome due to Membranous Nephropathy
Authors: Shinichi Sato, Masato Takahashi, Tetsu Takahashi
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

We report a case of cytomegalovirus- (CMV-) induced buccal ulcer in a patient with nephrotic syndrome. An 82-year-old man with membranous nephropathy was on immunosuppressive therapy presented with an ulcer in the oral cavity and was hospitalized. Intraoral examination revealed an inflamed and painful ulcer on the left buccal mucosa. Blood test results showed CMV positivity, and histopathological examination confirmed the diagnosis. Anti-CMV therapy (ganciclovir) was initiated from the third day of hospitalization. However, he developed dyspnea on the 14th day. Computed tomography images of the chest revealed the presence of ground-glass opacities, and noninvasive positive pressure ventilation was initiated under the provisional diagnosis of pneumocystis pneumonia caused by ganciclovir-associated myelosuppression and/or steroid-induced immunocompromised state. The patient died of pneumocystis pneumonia on the 21st day. The patient had received immunosuppressive therapy for renal dysfunction. Immunocompromised patients with CMV infection should be treated with caution, as drugs for CMV may themselves cause myelosuppression, deteriorating the prognosis of the patient.
Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency
Authors: Judy Fan, Brent L Fogel
Journal: Cerebellum Ataxias (2018)
Keywords: cerebellar ataxia, neurogenetics, riboflavin, slc52a2, spinocerebellar ataxia
MeSH terms: Case Reports

Background:
Riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome) is a rare recessive neurodegenerative disorder that can present with gait ataxia, primarily due to sensory neuropathy as well as cerebellar involvement. Although sensorineural hearing loss, bulbar palsy, and optic atrophy are typical, presentation may be variable and an atypical condition may be difficult to recognize clinically.
Case presentation:
Here we report a patient presenting at age 8 with progressive ataxia since the age of 2.5 years with cerebellar atrophy and peripheral polyneuropathy. Whole exome sequencing identified a known pathogenic mutation in the SLC52A2 gene consistent with a diagnosis of Brown-Vialetto-Van Laere syndrome despite the absence of common symptoms including motor neuropathy, bulbar palsy, optic atrophy, and sensorineural hearing loss. High-dose riboflavin therapy was initiated, symptoms stabilized, metabolic abnormalities resolved, and the patient is doing well with a near-normal examination at age 15.
Conclusions:
Riboflavin transporter deficiency can be fatal if left untreated. The excellent outcome of this case illustrates the importance of identifying this potentially treatable neurologic condition. In this patient, clinical diagnosis was limited by an atypical presentation lacking several common features which was overcome through the use of genomic sequencing identifying the pathogenic mutation enabling correct diagnosis and subsequent treatment. Riboflavin transporter deficiency should be considered early in the diagnostic evaluation as a treatable form of ataxia in children, even if patients lack typical features.
Severe Klippel-Feil syndrome with Mondini malformation of inner ear
Authors: Aqeel Abdullah Alaqeel
Journal: Pan Afr Med J (2014)
Keywords: klippel-feil syndrome, mondini malformation, congenital
MeSH terms: Ear, Inner / abnormalities, Klippel-Feil Syndrome / physiopathology, Case Reports, Cervical Vertebrae / abnormalities, Female, Humans, Infant, Newborn, Severity of Illness Index, Tomography, X-Ray Computed

Klippel-Feil syndrome is defined as the fusion of cervical vertebra with associated congenital anomalies but was rarely reported to be associated with Mondini Malformation. We report a newborn girl with severe neck extension, computed tomography (CT) of the neck after birth showed fusion of the fifth, sixth, and seventh cervical vertebrae, compatible with Klippel-Feil Syndrome and CT temporal bone showed choclear dysplasia with incomplete number of turns that is compatible with Mondini Malformation.
Update on the Molecular Genetics of Timothy Syndrome
Authors: Rosemary Bauer, Katherine W Timothy, Andy Golden
Journal: Front Pediatr (2021)
Keywords: cacna1c, cav12, timothy syndrome, arrhythmia, autism spectrum disorder, congenital heart defect, syndactyly, variant
MeSH terms: Review

Timothy Syndrome (TS) (OMIM #601005) is a rare autosomal dominant syndrome caused by variants in CACNA1C, which encodes the α1C subunit of the voltage-gated calcium channel Cav1.2. TS is classically caused by only a few different genetic changes and characterized by prolonged QT interval, syndactyly, and neurodevelopmental delay; however, the number of identified TS-causing variants is growing, and the resulting symptom profiles are incredibly complex and variable. Here, we aim to review the genetic and clinical findings of all published case reports of TS to date. We discuss multiple possible mechanisms for the variability seen in clinical features across these cases, including mosaicism, genetic background, isoform complexity of CACNA1C and differential expression of transcripts, and biophysical changes in mutant CACNA1C channels. Finally, we propose future research directions such as variant validation, in vivo modeling, and natural history characterization.
Gallbladder Agenesis without Additional Biliary Tracts Abnormality
Authors: Seyed Mostafa Meshkati Yazd, Hamidreza Bayati, Sara Sadat Nabavizadeh, Reza Shahriarirad
Journal: Case Rep Gastrointest Med (2022)
MeSH terms: Case Reports

Background:
Gallbladder agenesis (GA) is a very uncommon disorder of the biliary system. Diagnosis of GA can be difficult and may result in unnecessary procedures. In this case report, we will discuss our experience with an intraoperative accidental diagnosis of GA in a middle-aged woman that was effectively treated. Case Presentation. A 46-year-old woman presented with abdominal pain, nausea, vomiting, and intolerance to meals. Laparoscopic surgery was conducted based on sonographic imaging and a preliminary diagnosis of chronic cholecystitis. No gallbladder was seen during laparoscopy, and the patient was diagnosed as a case of GA. The laparoscopy was terminated, and the patient was referred for magnetic resonance cholangiopancreatography (MRCP) to confirm the diagnosis. Finally, endoscopic retrograde cholangiopancreatography (ERCP) and sphincterotomy were performed to alleviate symptoms. After one year of follow-up, the patient's overall condition is satisfactory and symptom-free.
Conclusion:
Our case exemplifies this common blunder. Therefore, we are reporting a case of GA discovered intraoperatively to increase surgeons' awareness and preparedness for this possible differential diagnosis and minimize unnecessary operational intervention.
Primary pulmonary adenocarcinoma in a 16-year-old boy - a five-year follow-up
Authors: Ane Stillits Måreng, Seppo W Langer, Uffe Bodtger
Journal: Eur Clin Respir J (2016)
Keywords: adolescent, diagnosis, metastasis, non-small cell lung cancer, survival
MeSH terms: Case Reports

Primary pulmonary adenocarcinoma in children or adolescents is a rare disease, and as such, there are no randomised studies on lung cancer for this age group. Treatment choice is extrapolated from studies in adults (mean age of participants: 60 years). We present the 5-year follow-up of a 16-year-old boy who presented with metastatic primary pulmonary adenocarcinoma (T3N3M1a) and was treated aggressively, including radiation therapy for local and distant recurrence. He had complete remission, had completed his education, was employed full-time, and suffered only from mild side effects to treatment.
Coexistence of Pemphigus Vulgaris and Lichen Planus following COVID-19 Vaccination
Authors: Zeinab Aryanian, Kamran Balighi, Arghavan Azizpour, Kambiz Kamyab Hesari, Parvaneh Hatami
Journal: Case Rep Dermatol Med (2022)
MeSH terms: Case Reports

SARS-CoV-2 vaccines were approved without long-term monitoring due to emergent situation and might have several side effects. Herein, we describe the first case with development of both LP and PV following COVID-19 vaccination. Immunological alteration due to COVID-19 vaccination and its potential role in triggering autoimmune disorders were also dealt with.
Endodontic Treatment of a Maxillary First Premolar with Type IV Buccal Root Canal: A Case Report
Authors: Bahareh Dadresanfar, Zohreh Khalilak, Solaleh Shahmirzadi
Journal: Iran Endod J (2009)
Keywords: bicuspid, maxilla, root anatomy, type iv canals
MeSH terms: Case Reports

The maxillary first premolar may present large number of anatomic variations. The clinician should be aware of the configuration of the pulp system. Maxillary first premolars usually have two canals. The incidence of three canals in these teeth is quite rare. This case report presents the diagnosis and clinical management of a maxillary first premolar with two distinct canals in the apical third of buccal root (type IV), drawing particular attention to tactile examination of all the canal walls.
Case Study Quasi-Qualitative Analysis of Peer Group Supervision of a Child Trauma Recovery Program in Occupied Palestine
Authors: Ian G Barron, Ghassan Abdallah, Unni Heltne
Journal: J Child Adolesc Trauma (2017)
Keywords: adolescents, counseling, evaluation, group supervision, traumatization

This case study explores the impact of peer group supervision (PGS) for counselors delivering Teaching Recovery Techniques (TRT), a group psycho-social program for traumatized adolescents. Interviews were conducted with seven school counselors, from villages near East Jerusalem in occupied Palestine; a skilled supervisor; and an international trainer. A quasi-qualitative analysis was conducted to quantify responses and themes along with a measure of inter-rater reliability. Participants reported that even in a context of military violence, PGS provided a reflective process inclusive of formative, normative and restorative functions. Locally available PGS was viewed as essential within a geographically fragmented context. Counselors' reported PGS led to a trusting environment in contrast to military practices and gender norms. War stressors and lack of Training of Trainers led to low counselor confidence in training others in TRT. PGS and Trainer of Trainers were recommended as core aspects of program delivery and to support training of colleagues.
Case report: Evaluation of myocardial microcirculation in patients with breast cancer after anthracycline chemotherapy by using intravoxel incoherent motion imaging
Authors: Shilan Li, Di Tian, Xin Li, Jia Li, Qingwei Song, Yunlong Xia, Zhiyong Li
Journal: Front Cardiovasc Med (2022)
Keywords: ivim, anthracycline, breast cancer, cardiotoxicity, microcirculation
MeSH terms: Case Reports

Introduction:
Anthracycline chemotherapy drugs can produce cardiotoxicity in patients with breast cancer, leading to myocardial cell death and fibrosis, further developing into cardiac failure. However, the condition of myocardial microcirculation was unknown in breast cancer after anthracycline chemotherapy. As a result, intravoxel incoherent motion (IVIM) imaging was used to non-invasively observe the condition of myocardial microcirculation in a patient with breast cancer after anthracycline chemotherapy.
Case report:
A 43-year-old female patient with a right breast lump was reported. Preoperative ultrasound-guided needle biopsy showed invasive carcinoma of the right breast with fibroadenoma. Sentinel lymph node biopsy combined with simplified radical surgery for right breast cancer was performed. Postoperative pathological findings reported breast cancer (pT2N2M0 IIIA). The patient underwent eight sessions of the EC-TH chemotherapy scheme, and the EC and the TH schemes were adopted for the first four sessions and the last four sessions, respectively. During chemotherapy, during which there was the occurrence of Grade II myelosuppression, chest CT and abdomen CT showed no metastasis, and ECG and cardiac ultrasound reports returned to normal. Cardiac cine magnetic resonance and IVIM imaging were performed at the beginning of the first chemotherapy session (baseline) and after the third, fifth, and eighth chemotherapy sessions, respectively. We found that the fast apparent diffusion coefficient (ADCfast) and f parameters appeared to show a downward trend from the baseline to the fifth chemotherapy session, where the IVIMfast values declined from 163 × 10-3 mm2/s to 148 × 10-3 mm2/s and finally to 134 × 10-3 mm2/s and f values declined from 45% to 36% and then to 30%, respectively. ADCfast and f values showed an inclination from the fifth and eighth chemotherapy sessions.
Conclusion:
Our case report showed that IVIM technology can likely detect non-invasive myocardial microcirculation early and quantitatively after anthracycline chemotherapy in patients with breast cancer. That is, IVIM technology seems to be helpful for cardiovascular risk monitoring and prognosis assessment of myocardial microcirculation in patients with breast cancer after anthracycline chemotherapy.
Ovarian masses in children and adolescents in China: analysis of 203 cases
Authors: Hongqian Liu, Xiangao Wang, Donghao Lu, Zhihong Liu, Gang Shi
Journal: J Ovarian Res (2013)
Keywords: epithelial tumor, germ cell, laparoscope, ovarian mass, pediatric

Objective:
The true incidence of ovarian tumors in children is unknown. Few studies beyond case reports and case series have been published concerning pediatric ovarian tumors. Herein we review a large number of ovarian tumor cases.
Methods:
The charts of 203 patients who presented with adnexal masses were reviewed.
Results:
The patient's ranged in age from 2 to 18 years (mean = 15.6 years), with 30 being premenarchal (14.8%). The incidence of ovarian tumor increases with age, especially in patients older than 14 years. The main complaint was abdominal pain or abdominal distension in 117 patients (57.7%). A high AFP level in a pre-pubic girl with an adnexal mass is indicative of a malignant ovarian tumor. The 214 adnexal masses (11 patients had bilateral cysts) consisted of benign tumorous oophoropathy (107 masses, 50.0%), borderline and malignant tumors (29 masses, 13.6%), and nontumorous oophoropathy (78 masses, 36.5%). Of the 136 neoplasia, germ cell tumors accounted for 71.5%. Surgical intervention was performed in 98.5% of cases. There were statistically decreased blood loss, surgery duration and days of hospitalization with the laparoscopic procedure when compared with open surgery.
Conclusions:
Abdominal pain is the most common complaint in young patients with adnexal masses. AFP is the most useful diagnostic biomarker of ovarian tumors in young females. Laparoscopic resection of ovarian cysts is an alternative operation approach.
Late onset hyperplastic callus formation in osteogenesis imperfecta type V simulating osteosarcoma-A case report
Authors: Hans Christoph Vonderlind, Matthias Jessel, Alexander Knobel, Ingke Juergensen, Johannes Struewer
Journal: Int J Surg Case Rep (2020)
Keywords: hyperplastic callus formation, osteogenesis imperfecta type v, radiography, simulation of osteosarcoma
MeSH terms: Case Reports

Introduction:
We report a case of late onset hyperplastic callus formation (HPC) in the right femur in type V osteogenesis imperfecta (OI) mimicking the occurrence of a malignant osteosarcoma.
Presentation of case:
A 27-year-old female patient consulted us due to swelling in her right femur over 2-3 months without trauma. X-rays looked like an osteosarcoma, blood tests showed increased bone metabolism. A CT scan, a MRI and biopsy were performed, showing late onset HPC due to osteogenesis imperfecta type V.
Discussion:
OI shows a heterogeneous disease pattern due to a variety of clinical and radiographic findings. HPC is a rare complication of OI type V. Differential diagnosis range from cortical or periosteal osteosarcoma, periostitis, myositis ossificans, subperiosteal hematoma secondary to trauma or osteomyelitis.
Conclusion:
Recognition of HPC as a form of this particular type of OI is important to avoid misdiagnosis like malignant transformation to osteosarcoma. A biopsy and advanced imaging modalities like CT, MRI and scintigraphy are recommended.
Managing macular hole associated with acute inflammatory Vogt-Koyanagi-Harada syndrome
Authors: Rodrigo M Navarro, Gisele C Guizilini, Leonardo M Machado, Mauricio Maia
Journal: Int J Retina Vitreous (2015)
Keywords: macular hole, pars plana vitrectomy, vogt-koyanagi-harada syndrome
MeSH terms: Case Reports

We report a 24-year-old man with Vogt-Koyanagi-Harada (VKH) syndrome who developed a macular hole (MH) during the acute inflammatory stage. Spontaneous resolution was unlikely because of the MH dimensions and absence of vitreous adherence. The patient underwent pars plana vitrectomy (PPV) and internal limiting membrane peeling during the acute stage followed by retinopexy with octafluoropropane injection and prone positioning for 5 days. The MH closed and the best-corrected visual acuity (BCVA) improved from 20/400 to 20/40. Prompt surgical intervention may be an alternative for treating MHs and obtaining visual recovery in special cases even in the acute inflammatory stage.