OpenMed/multicare-articles huggingface dataset:
Case Report: A rare case of young adult progressive familial intrahepatic cholestasis-type 3 with a novel heterozygous pathogenic variant of ABCB4
Authors: Hao Zhu, Shengnan Wang, Li Li, Wenqian Geng, Xiaoqiang Wan, Rui Hua, Dong Wang, Pujun Gao
Journal: Front Pediatr (2022)
Keywords: abcb4, c1429c>a, multidrug-resistant protein 3, novel mutation, progressive familial intrahepatic cholestasis type 3
MeSH terms: Case Reports

Progressive familial intrahepatic cholestasis type 3 (PFIC-3) is a rare autosomal recessive disorder with poor prognosis. It is caused by pathogenic variants of the ATP binding cassette subfamily B member 4 (ABCB4) gene and usually progresses from chronic cholestasis with or without jaundice to portal hypertension and end-stage liver disease within the first to second decade of life. Few reported PFIC-3 patients presented with atypical clinical symptoms, therefore, often misdiagnosed if without family history. Herein, we report a 16-year-old male who was admitted to our hospital due to acute episodes of jaundice and intense pruritus, subsequently progressed to end-stage liver disease. Laboratory examinations showed no evidence of liver injury caused by viral, autoimmune, drug or liver tumors. Ursodeoxycholic acid and dexamethasone did not relieve his symptoms and he underwent liver transplantation successfully. Targeted next-generation sequencing identified that the patient was a compound heterozygote for two missense mutations (c.959C > T/c.1429C > A) in the ABCB4 gene. The mutation c.1429C > A (p.Q477K) is a novel heterozygous mutation. We constructed a three-dimensional model of this novel pathogenic variant using the SWISS MODEL program and found that the patient's ABCB4 protein is an ATP hydrolysis deficient mutant. The postoperative pathological diagnosis showed intrahepatic cholestasis with progression to cirrhosis. Negative liver tissue immunohistochemistry of MDR3 was found in the explanted liver. The patient was diagnosed with PFIC-3, and his symptoms improved dramatically with liver transplantation. In conclusion, for young patients with acute cholestasis, pruritus, jaundice, growth retardation, and enlargement of the liver and spleen, the possibility of inherited metabolic liver diseases should be considered, detailed medical and family history should be collected, and metabolic screening tests as well as gene tests are necessary for correct diagnosis. Increasing the coverage of PFIC3 is meaningful and thus can improve the current understanding of this disease.
Effectiveness of Long Term Supervised and Assisted Physiotherapy in Postsurgery Oral Submucous Fibrosis Patients
Authors: S Kale, N Srivastava, V Bagga, A Shetty
Journal: Case Rep Dent (2016)

Oral submucous fibrosis is one of the leading potentially malignant disorders prevailing in India. A number of conservative and surgical treatment options have been suggested for this potentially malignant disorder (Arakeri and Brennan, 2013). While the role of physiotherapy has been highlighted in the conservative management, its importance in postsurgical cases to avoid scar contracture and subsequent relapse has not been given due importance in the literature. The following is a case report of a male patient surgically treated for OSMF (oral submucous fibrosis) and meticulously followed up for recalls and physiotherapy. The constant supervision and motivation for physiotherapy along with the constant assistance helped achieve satisfying results.
Infectious Aortitis: A Life-Threatening Endovascular Complication of Nontyphoidal Salmonella Bacteremia
Authors: Seifeldin Hakim, Francisco Davila, Mitual Amin, Ismail Hader, Mitchell S Cappell
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

A 65-year-old Japanese man living in the United States presented with pyrexia and chills associated with intermittent lower abdominal and back pain for 5 days. He denied recent travel, rash, diarrhea, or rectal bleeding. Physical examination revealed spiking pyrexia, and routine laboratory tests revealed mild leukocytosis and neutrophilia. Abdominal CT with contrast showed findings highly compatible with aortitis. Comprehensive autoimmune evaluation was negative. Salmonella enterica serotype Enteritidis was isolated from blood cultures. IV antibiotics were administered, but the patient continued to experience low-grade pyrexia and mild leukocytosis, and follow-up abdominal CT showed progressive aortic inflammation. The patient therefore underwent resection of the affected aortic segment with in-situ graft replacement and lifelong suppressive antibiotics. The patient is asymptomatic with no complications at 18 weeks of follow-up. This case report illustrates that patients with infectious aortitis from nontyphoidal Salmonella may (1) present with nonspecific and nonlocalizing symptoms and signs except for sepsis; (2) have diagnostic blood cultures and abdominal CT findings; and (3) typically require aggressive, prolonged IV antibiotic therapy and surgery for potential cure of this life-threatening infection.
Case Report: Visual Rehabilitation in Hemianopia Patients. Home-Based Visual Rehabilitation in Patients With Hemianopia Consecutive to Brain Tumor Treatment: Feasibility and Potential Effectiveness
Authors: Monica Daibert-Nido, Yulia Pyatova, Kyle Cheung, Camilus Nayomi, Samuel N Markowitz, Eric Bouffet, Michael Reber
Journal: Front Neurol (2021)
Keywords: hemianopia or hemianopsia, hemianopia rehabilitation, low-vision, personalized medicine 2, rehabilitation, virtual-reality
MeSH terms: Case Reports

Background/Objectives: Visual field loss is frequent in patients with brain tumors, worsening their daily life and exacerbating the burden of disease, and no supportive care strategies exist. In this case series, we sought to characterize the feasibility and potential effectiveness of a home-based visual rehabilitation program in hemianopia patients using immersive virtual-reality stimulation. Subjects/Methods: Two patients, one with homonymous hemianopia and the other with bitemporal hemianopia, consecutive to pediatric brain tumors, with no prior visual rehabilitation performed 15 min of home-based audiovisual stimulation every 2 days for 6 weeks (case 2) and 7 weeks (case 1) between February and August 2020. Patients used a virtual-reality, stand-alone, and remotely controlled device loaded with a non-commercial audiovisual stimulation program managed in real time from the laboratory. Standard visual outcomes assessed in usual care in visual rehabilitation were measured at the clinic. Following a mixed method approach in this pragmatic study of two cases, we collected quantitative and qualitative data on feasibility and potential effectiveness and compared the results pre- and post-treatment. Results: Implementation and wireless delivery of the audiovisual stimulation, remote data collection, and analysis for cases 1 and 2 who completed 19/20 and 20/20 audiovisual stimulation sessions at home, respectively, altogether indicated feasibility. Contrast sensitivity increased in both eyes for cases 1 and 2. Visual fields, measured by binocular Esterman and monocular Humphrey full-field analyses, improved in case 1. A minor increase was observed in case 2. Cases 1 and 2 enhanced reading speed. Case 2 strongly improved quality of life scores. Conclusion: This is the first report of a home-based virtual-reality visual rehabilitation program for adult patients with hemianopia consecutive to a pediatric brain tumor. We show the feasibility in real-world conditions and potential effectiveness of such technology on visual perception and quality of life.
Successful conservative treatment of a cesarean scar pregnancy with systemically administered methotrexate and subsequent dilatation and curettage: a case report
Authors: Anis Fadhlaoui, Mohamed Khrouf, Khaled Khémiri, Kais Nouira, Anis Chaker, Fethi Zhioua
Journal: Case Rep Obstet Gynecol (2012)
MeSH terms: Case Reports

Cesarean scar pregnancy is a rare type of ectopic pregnancy associated with severe complications such as uterine rupture, uncontrollable bleeding which may lead to hysterectomy, and definitive infertility. Many therapeutic options are available such as Dilatation & Curetage, excision of trophoblastic tissues using either laparotomy or laparoscopy, systemically administered Methotrexate, and more recently uterine artery embolization. The use of Methotrexate sometimes required laparotomy later because of severe hemorrhage. Through this paper, we demonstrated that viable cesarean scar pregnancy can be managed safely by systemically delivered Methotrexate at the cost of a prolonged followup.
Cronkhite- Canada syndrome; a case report and review of the literature
Authors: Mohammad Taghi Safari, Shabnam Shahrokh, Shahram Ebadi, Amir Sadeghi
Journal: Gastroenterol Hepatol Bed Bench (2016)
Keywords: cronkhite- canada syndrome, diarrhea, hamartomatous polyp
MeSH terms: Case Reports

Cronkhite- Canada syndrome (CCS) considered as a rare and non-hereditary disorder. Gastrointestinal polyposis and diarrhea along with some extra signs and symptoms such as hypoproteinemia, and epidermal manifestations are recognized in this syndrome. The pathophysiology of this syndrome is not completely understood and it seems that inflammatory processes may be involved. We present a 50 year-old man with hamartomatous polyps throughout the colon and long-lasting diarrhea not responding to typical therapies during three years.
Bevacizumab Combined With Oxaliplatin/Capecitabine in Patient With Refractory and Recurrent Mucinous Adenocarcinoma of the Appendix: A Case Report
Authors: Wenzhi Liu, Lili Liu, Ruoyu Wang, Guanyu Gong, Xinjia Ding, Bin Yang, Yun Bao, Zhiqiang Wang, Bo Zhang, Dewei Zhao, Fei Wu, Yan Ding
Journal: Front Oncol (2019)
Keywords: appendiceal adenocarcinoma, bevacizumab, next generation sequencing, peritoneal carcinomatosis, targeted therapy
MeSH terms: Case Reports

Primary appendiceal adenocarcinoma with peritoneal pseudomyxoma (PPM) has a high recurrence rate and refractory to medical interventions such as repetitive debulking surgery and systemic chemotherapy. Genome-based targeted therapy for such cases has not been well-documented. Here we present a 63-years-old women, who was diagnosed with recurrent mucinous adenocarcinoma of the appendix with local invasions and peritoneal carcinomatosis, was refractory to systemic chemotherapy after surgery. We used a regime developed using whole exome sequencing. Somatic mutations in the genes encoding VEGFR2, FGFR1, FGFR2, FGFR3, and KRAS were identified in the patient's tumor tissue. The patient was then treated with bevacizumab plus oxaliplatin. After 4 months of treatment, pelvic CT showed dramatic reduction of pseudomyoma and a decline of CA199 level from 5436.7 to 1121.4 U/ml. Continual treatment with bevacizumab-capecitabine remained effective and the patient's CA199 level further decreased to 401.26 U/ml according to the follow-up examination on Aug 15th, 2018. Results from this study show the evidence of gene mutations involving VEGF signal activation in the recurrence of appendiceal adenocarcinoma. Our results also suggest the association of these mutations with the effectiveness of anti-VEGF treatment using bevacizumab. Therefore, the screening of gene mutations involved in VEGF signaling and targeted therapy with anti-VEGF drugs may provide a new option to manage refractory/recurrent advanced-stage appendiceal adenocarcinoma.
Case Report: Neuromyelitis Optica Spectrum Disorder With Progressive Elevation of Cerebrospinal Fluid Cell Count and Protein Level Mimicking Infectious Meningomyelitis: A Diagnostic Challenge
Authors: Yin-Xi Zhang, Meng-Ting Cai, Ming-Xia He, Yu-Qiang Lu, Xiao Luo, Tian-Yi Zhang
Journal: Front Immunol (2022)
Keywords: aquaporin-4 antibody, area postrema syndrome, cerebrospinal fluid, infectious meningomyelitis, longitudinally extensive transverse myelitis, neuromyelitis optica spectrum disorder
MeSH terms: Communicable Diseases / complications, Myelitis, Transverse / complications, Neuromyelitis Optica, Optic Neuritis, Case Reports, Adult, Aquaporin 4, Autoantibodies, Cell Count, Humans, Male, Aquaporin 4, Autoantibodies

Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune-mediated idiopathic inflammatory demyelinating disease with a typical clinical presentation of optic neuritis, acute myelitis, and area postrema syndrome. Most NMOSD patients are seropositive for disease-specific and pathogenic aquaporin-4 (AQP4) antibodies, which are key markers for the NMOSD diagnosis. Herein, we report an atypical case of a 41-year-old man who complained of intractable hiccups and vomiting at disease onset, followed by fever, headache, back pain, progressive paresthesia, and weakness of extremities later on. Magnetic resonance imaging revealed longitudinally extensive transverse myelitis. Cerebrospinal fluid analysis showed progressive increases in the white blood cell count and the protein level, which were accompanied by the deterioration of clinical manifestations. The patient was initially suspected of infectious meningomyelitis but was finally diagnosed with NMOSD. This case with distinct cerebrospinal fluid findings broadens the phenotypic spectrum of NMOSD. Furthermore, it also highlights the clinical value of AQP4 antibody test for early definitive diagnosis and proper treatment.
Case Report: Hematoma Formation After Spontaneous Coronary Artery Rupture
Authors: Weitao Liang, Honghua Yue, Tailong Zhang, Zhong Wu
Journal: Front Cardiovasc Med (2022)
Keywords: cardiac mass, coronary aneurysm, coronary artery hematoma, literature review, spontaneous coronary artery rupture
MeSH terms: Case Reports

We report a case of hematoma formation in the right coronary artery after spontaneous rupture. A 48-year-old female patient was admitted with a suspected right cardiac mass. Despite diagnostic work-up, the dignity of the mass could not be determined. Due to acute clinical symptoms, explorative surgery was decided and performed. Hereby, the mass was partially incised, and thrombus-like tissue was detected without active bleeding. We described the challenges during the diagnostic process, and the diagnosis was finally made according to a multimodality approach. For further assessment, we reviewed related literature and highlighted the importance of coronary angiography in the preoperative evaluation of such patients. The therapy may vary according to the location and size of such lesions.
Chronic Fracture of the Posteromedial Tubercle of the Talus Masquerading as Os Trigonum Syndrome
Authors: Thananjeyen Srirangarajan, Ali Abbasian
Journal: Case Rep Orthop (2021)
MeSH terms: Case Reports

Posterior ankle impingement syndrome (PAIS) can be caused by osseous pathology from the posterior aspect of the talus. The commonest cause is an os trigonum, an accessory ossicle arising from the lateral tubercle of the posterior talus. We have observed cases where the osseous impingement is due to a chronic fracture nonunion of the medial tubercle of the posterior talus with unique symptoms, differentiating this clinical syndrome from the more common os trigonum syndrome. These can be readily overlooked on imaging and confused with an often coexisting os trigonum. Awareness of these lesions is paramount to ensure appropriate management and safe surgery. We describe a series of patients presenting to the senior author with this clinical syndrome, discuss its unique clinical and radiological features, and describe our surgical technique.
HIV-Associated Vacuolar Myelopathy and HIV-Associated Neurocognitive Disorder as an Initial Presentation in HIV Infection
Authors: Md Asaduzzaman, Atonu Das, Sowmitra Das, Mahfuza Khadija Shamma, Abul Kalam Mohammed Shoab, Biplob Kumar Roy
Journal: Case Rep Infect Dis (2023)
MeSH terms: Case Reports

Several neurological disorders have been described in HIV infection. Vacuolar myelopathy and neurocognitive disorders usually come at an advanced stage of the disease process. Here, we present a case where these features constitute the presenting complaints. Both of these conditions improved significantly following the start of HAART. We believe this clinical pathway can be a good learning point for the clinician.
Extraintestinal Amoebiasis in Women after 6th Day of Delivery
Authors: Awoke Minwuyelet, Yibeltal Aschale, Solomon Ayenew
Journal: Case Rep Gastrointest Med (2021)
MeSH terms: Case Reports

Background:
Extraintestinal amoebiasis is more common in countries with lower socioeconomic status. Complication related to amoebiasis is common in pregnant patients with malnutrition and others. Severe cases can be associated with high fatality rates. We would like to report a patient with a presumptive diagnosis of extraintestinal amoebiasis who was on the 6th postpartum day after intrauterine fetal death (IUFD). Case Presentation. The patient was a 31 year-old female who was on 6th postpartum day after IUFD after the 9th month of amenorrhea. She presented with severe epigastric pain, hiccups, and bloody vomiting of ingested matter for 5 days. She also had right upper quadrat pain and fatigue. In addition, she had generalized body weakness and yellowish discoloration of the eyes for one week. Moreover, she had pruritus, fever, and a history of watery diarrhea 6 days ago which got subsided during the presentation. Laboratory investigation indicated leukocytosis and increased level of alkaline phosphatase and direct and total bilirubin. Trophozoite of E. histolytica was seen on stool microscope, negative for viral marker and Helicobacter pylori. Abdominal ultrasonography showed normal liver parenchyma and biliary system. She was treated onsite with 500 mg metronidazole and 500 mg ceftriaxone for five days and discharged with metronidazole 500 mg PO three times a day and cloxacillin 500 mg PO four times a day for 7 days.
Conclusions:
Extraintesinal amoebiasis can be resolved if it is diagnosed early and treated with metronidazole. Clinicians should not neglect amoebiasis in patients presenting with jaundice and right upper quadrant pain.
Posterior ankle arthroscopic treatment of a talar chondroblastoma with allograft and a platelet-rich plasma-fibrin glue: A case report and literature review
Authors: Cheng Chen, ZhenDong Li, JianFeng Xue, ZhongMin Shi
Journal: Front Surg (2023)
Keywords: allograft, arthroscopy, benign bone tumor, chondroblastoma, platelet-rich plasma-fibrin glue, talus
MeSH terms: Case Reports

Talar chondroblastoma, which is a benign tumor of immature cartilage cells, is an uncommon but easily missed diagnosis of foot pain. Arthroscopic treatment for this condition is a safe, powerful, and promising technique with definitive advantages of visualization and minimal invasion. Here, we report a case of a talar chondroblastoma treated by posterior ankle arthroscopic curettage, allograft bone graft, and platelet-rich plasma-fibrin glue (PRP-FG) application.
Level of evidence:
Case Report. Level IV.
Uterine Rupture in Pregnancy following Two Abdominal Myomectomies and IVF
Authors: Marco D'Asta, Ferdinando Antonio Gulino, Carla Ettore, Valentina Dilisi, Elisa Pappalardo, Giuseppe Ettore
Journal: Case Rep Obstet Gynecol (2022)
MeSH terms: Case Reports

Objective:
Uterine rupture (UR) during pregnancy is an obstetric emergency that could determine poor maternal and neonatal outcomes. There are many factors that could increase the risk of UR, such as a previous myomectomy. The aim of this study is to evaluate the role of a previous myomectomy in a spontaneous UR in pregnancy.
Methods:
A 33-year-old primigravida comes to our obstetric emergency room for pelvic pain at 29 weeks of gestation. In her medical history, there were two previous surgical operations of abdominal myomectomy, one in 2015 and one in January 2021 (6 months before conception). After 34 minutes, a pubo-subumbilical longitudinal laparotomy was performed for pathological decelerations in the cardiotocography. In the peritoneal cavity, there was 500 mL of blood serum liquid. The right arm and shoulder of the fetus were extending out of the uterus across a breach of 5 cm near the right tubal corner. A corporal incision was performed, and a healthy baby was born and moved to neonatal intensive unit care.
Results:
A UR can occur at any stage of pregnancy, mostly during the third trimester of pregnancy. Risk factors that increase the incidence of a uterine rupture after myomectomy include a short period (i.e., <12 months) between the myomectomy and conception, the opening of the endometrial cavity, and large myomas (with a maximum diameter above 4 cm). Uterine rupture during pregnancy after abdominal myomectomy seems to be less frequent than after a laparoscopic one.
Conclusion:
Uterine rupture is an obstetric emergency; it is mandatory to consider this eventuality in pregnancy, particularly in the third trimester, if there was a previous laparoscopic myomectomy in the anamnesis of the patient.
Takotsubo Cardiomyopathy in a Patient with Undiscovered Sigmoid Colon Cancer
Authors: Huang Po-Yen, Ku Po-Ming
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

Takotsubo cardiomyopathy (TTC) is a stress-related cardiomyopathy that is characterized by reversible left systolic dysfunction, which appears to be precipitated by sudden emotional or physical stress in the absence of myocardial infarction. Here we present a rare case that clinically presented with intermittent abdominal pain, initially impressed as non-ST elevation myocardial infarction and congestive heart failure but with a normal coronary angiogram. Her symptoms relieved spontaneously without returning. Sigmoid colon cancer was diagnosed via colonoscopy later due to persistent abdominal discomfort. In the absence of detectable emotional or physical stress factors, the newly diagnosed sigmoid colon cancer was the only possible trigger factor of TTC. We offer this case as a reminder that cancer should be considered in the differential diagnosis of patients presenting with the etiology of TTC.
Case Report: Adolescent-Onset Isolated Nephronophthisis Caused by a Novel Homozygous Inversin Mutation
Authors: Zhengxia Zhong, Xiaoyong Yan, Zhengying Fang, Yijun Dong, Jiaxing Tan, Jingyuan Xie, Linhong Hu, Shibin Zhang, Wei Qin
Journal: Front Genet (2022)
Keywords: esrd, invs, nphp2, adolescent-onset, homozygous mutation
MeSH terms: Case Reports

Objective: Nephronophthisis (NPHP) is a rare autosomal recessive inherited kidney disease that can cause cystic enlargement of the kidneys, and lead to end-stage renal disease (ESRD) before the age of 30 years. Herein we describe a case of adolescent-onset NPHP with a novel homozygous mutation in the inversin gene (INVS). Methods: The patient was a 15-year-old Chinese boy who presented with ESRD. Genetic testing was performed via whole exome sequencing and validated via Sanger sequencing. A novel homozygous INVS mutation was identified (c. 1909C > T; p. Gln637Ter). Results: The results of laboratory examinations included urinary protein 1.05 g/24 h, urine erythrocyte count 5/high-power field, serum creatinine 1,026.2 μmol/L, and estimated glomerular filtration rate 5.8 ml/min/1.73 mm2. Extrarenal features included hypertension and moderate anemia, and his parents were consanguineous (first cousins). A homozygous 1-bp substitution resulting in a nonsense mutation (c. 1909C > T; p. Gln637Ter) in exon 15 of INVS was detected via whole exome sequencing, and validated via Sanger sequencing. According to the classification system of the American College of Medical Genetics and Genomics, the mutated gene in INVS is strongly pathogenic (PVS1+PM2+PP3+PP5). His parents and a younger brother were heterozygous carriers. Based on the above results he was diagnosed with juvenile type 2 NPHP. He underwent hemodialysis, and received a kidney transplant after 2 months. He is currently recovering well, with a serum creatinine level of 117 μmol/L and an estimated glomerular filtration rate of 79.6 ml/min/1.73 mm2. Conclusion: Here we have described an extremely rare case of adolescent-onset type 2 NPHP caused by a homozygous INVS mutation. The patient had progressed to ESRD by the age of 15 years. The current report will deepen our understanding of the clinical and genetic basis of this disease.