OpenMed/multicare-articles huggingface dataset:
Hypofractionated stereotactic radiotherapy after transarterial chemoembolisation failure in an unresectable hepatocellular carcinoma: a case presentation
Authors: Francesco Fiorica, Carlo Greco, Sergio Boccia, Sergio Sartori, Antonio Stefanelli, Francesco Cartei, Stefano Ursino
Journal: Case Reports Hepatol (2013)

Introduction. Transarterial chemoembolization is the first-line treatment in unresectable hepatocellular carcinoma. There is no standard treatment after transarterial chemoembolization failure. We report the case of a patient with advanced hepatocellular carcinoma who showed a complete response and a long cancer control with hypofractionated stereotactic radiotherapy after transarterial chemoembolization failure. Case Presentation. A 70-year-old Caucasian woman was treated with transarterial chemoembolization for advanced hepatocellular, but no cancer control was obtained. A hypofractionated stereotactic radiotherapy was planned delivering 40 Gy in 5 fractions. A dramatic reduction in alpha-fetoprotein was observed. Contrast-enhanced ultrasonography at 1 and 2 months showed large necrotic areas. Computerised tomography scan showed a 90% objective tumour response, then a complete remission at 3 and 6 months after treatment, respectively. Status of patient remained unchanged for 2 years. Conclusions. Hypofractionated stereotactic radiotherapy can improve survival and prognosis of unresectable hepatocellular carcinoma patient.
A Case Study Using a Behavioural Contract in Alcohol Dependence within a Crisis Home Treatment Team
Authors: Andrew John Howe, Cholan Anandarajah
Journal: Case Rep Psychiatry (2022)
MeSH terms: Case Reports

In this case study, we present a novel approach to care within a Home Treatment Team, using a behavioural contract. This is a signed, written agreement that targets specific behaviours for change. The concept draws on social learning theory in that it requires social interaction and a relationship to work. In psychiatric settings, the behavioural contract often finds use in Democratic Therapeutic Communities but rarely in crisis or acute services. In this case study, we attempted to use a behavioural contract within our Home Treatment Team to help a patient address his alcohol dependence and its subsequent effect on his daily living activities. The behavioural contract provided an alternative way to manage a crisis episode. We hope that other crisis service staff reading this case study may use a behavioural contract in their work to a similar beneficial effect.
Caroli's disease incidentally discovered in a 16-years-old female: a case report
Authors: Abdullatif Almohtadi, Faisal Ahmed, Fawaz Mohammed, Morad Sanhan, Abdulghani Ghabisha, Lina Al-Moliki
Journal: Pan Afr Med J (2022)
Keywords: caroli’s disease, abdominal pain, case report, cholangitis
MeSH terms: Caroli Disease / complications, Caroli Disease / diagnosis, Caroli Disease / therapy, Cholangitis / diagnosis, Liver Diseases / pathology, Case Reports, Abdominal Pain / complications, Adolescent, Bile Ducts, Intrahepatic / pathology, Dilatation, Pathologic / pathology, Female, Humans, Liver Cirrhosis / complications

Caroli´s disease is a congenital hepatic disorder characterized by nonobstructive saccular or fusiform dilatation of the intrahepatic bile ducts with the absence of congenital hepatic fibrosis. Caroli´s disease is rare, with few reported cases in the literature, making it hard to distinguish from other liver abnormalities. We present a case of Caroli´s disease discovered indecently in a 16-year-old female who presented with recurrent abdominal pain and intermittent jaundice in the last three years. Abdominal Computed tomography (CT) showed mild liver enlargement with multiple cystic dilatations of the intrahepatic saccular bile ducts cystic dilatations without hepatic fibrosis. The patient was treated conservatively with ursodeoxycholic acid and antibiotic therapy and discharged with regular follow-up. In conclusion, Caroli´s disease should be considered in the differential diagnosis in patients with recurrent abdominal pain and cholangitis without risk factors or relevant history.
Juvenile idiopathic arthritis with systemic onset with inflammatory bone lesions: two case reports of patients successfully treated with canakinumab and experience gained from literature
Authors: Ekaterina I Alexeeva, Tatyana M Dvoryakovskaya, Irina T Tsulukiya, Natalia M Kondrateva, Natalia M Solomatina, Gleb V Kondratiev, Luliia V Peshekhonova, Mikhail M Kostik
Journal: Front Pediatr (2023)
Keywords: autoinflammation 4, canakinumab 3, chronic non-bacterial osteomyelitis 1, chronic recurrent multifocal osteomyelitis 5, interleukine-1 6, juvenile idiopathic arthritis with systemic onset 2
MeSH terms: Case Reports

Non-bacterial osteomyelitis (NBO) is a rare chronic inflammatory bone disease related to immune system dysregulation. This disease belongs to a family of autoinflammatory diseases. It often coexists with other TNF-α-mediated immune-mediated diseases such as juvenile idiopathic arthritis (JIA) and inflammatory bowel diseases. Previously, interleukin-1-driven inflammation was described predominantly in monogenic cases of NBO, such as DIRA syndrome or Majeed syndrome. However, the association between NBO and JIA with systemic onset (soJIA) has not been described yet. Herein, we describe the cases of two patients with soJIA with inflammatory bone lesions wherein canakinumab (anti-interleukin-1β antibodies) caused remission.
Case descriptions:
Patient 1-A 6-month-old boy with typical soJIA suffered a destruction of the 7th to 9th ribs and the left pubic bone. Antibiotics, IVIG, and cyclosporine proved ineffective. Corticosteroids were effective, but due to the factor of corticosteroid dependence, which has some disadvantages, canakinumab with a dosage of 4 mg/kg was initiated every 4 weeks, which completely controlled the disease and allowed to taper corticosteroids.Patient 2-A 2-year-old girl developed chronic non-bacterial osteomyelitis of the 5th rib 2 months after taking corticosteroids prescribed for typical soJIA. She underwent surgical debridement removal, and several courses of antibiotics proved ineffective. She developed macrophage activation syndrome, following which anakinra was prescribed, which resulted in only temporary improvement. Therefore, this drug was switched to canakinumab, which caused corticosteroid-free remission.
Conclusion:
This is the first description of a rare association of soJIA with inflammatory bone lesions with the proven efficacy of IL-1 blockade. The association of two autoinflammatory conditions should indicate IL-1-driven mechanisms and a possible genetic basis. Follow-up genetic and functional studies are required to better understand the pathogenesis of such overlapping diseases.
Incidental Finding of an Aorto-Right Atrial Fistula in a Patient Undergoing Repair of a Sinus of Valsalva Aneurysm
Authors: Byron R Rosero-Britton, Anthony Nguyen, Ibrahim Warsame, Muhammad Shabsigh, Luke Dong, James Wolfe, Bryan Whitson, Michael Essandoh
Journal: Front Med (Lausanne) (2017)
Keywords: computed tomography angiography, right atrium, sinus of valsalva aneurysm, sinus of valsalva-to-right atrial fistula, transesophageal echocardiography
MeSH terms: Case Reports

A sinus of Valsalva aneurysm is a rare malformation of the aortic root that can fistulize to another cardiac structure such as the right atrium. Although transthoracic echocardiography and computed tomography angiography have demonstrated utility for the diagnosis of a sinus of Valsalva-to-right atrial fistula, there are few cases where a misdiagnosis may occur. Intraoperative transesophageal echocardiography may be an essential imaging tool for the diagnosis and management of incidental findings such as a sinus of Valsalva-to-right atrial fistula during cardiac surgery and should be used routinely.
Undetected pituitary adenoma in a patient with retinitis pigmentosa
Authors: Mousa Taghipour, Nima Derakhshan, Arash Saffarian, Meisam Ghanbari
Journal: Chin Neurosurg J (2019)
Keywords: pituitary adenoma, retinitis pigmentosa, sellar mass, tunnel vision, vision loss
MeSH terms: Case Reports

Background:
Retinitis pigmentosa (RP) is one of the most severe hereditary retinal disorders with a worldwide prevalence reaching 1 in every 3000-5000 people and a total of almost one million affected individuals. RP is heterogeneous in its clinical presentations but typically presents as progressive visual dysfunction, including nyctalopia in adolescence, restricted peripheral vision (tunnel vision) in young adults, and loss of central vision at an advanced age.
Case description:
Herein, we want to report a case of RP who presented with gradual worsening of vision and headache, and further evaluation revealed a concomitant non-functional pituitary macroadenoma. Ophthalmologic evaluation revealed a little chance for him to regain his vision, so the patient refused to undergo endoscopic surgical resection. However, he is still under clinic-radiologic follow-up, to be evaluated for progression in tumor size and obstructive hydrocephalus.
Conclusion:
Presenting with similar symptoms of tunnel vision, the simultaneous occurrence of these two diseases in a patient may delay the diagnosis of the latter, leading to its progression.
Alveolar Ridge Preservation Using a Novel Synthetic Grafting Material: A Case with Two-Year Follow-Up
Authors: Peter Fairbairn, Minas Leventis, Chas Mangham, Robert Horowitz
Journal: Case Rep Dent (2018)
MeSH terms: Case Reports

This case report highlights the use of a novel in situ hardening synthetic (alloplastic), resorbable, bone grafting material composed of beta tricalcium phosphate and calcium sulfate, for alveolar ridge preservation. A 35-year-old female patient was referred by her general dentist for extraction of the mandibular right first molar and rehabilitation of the site with a dental implant. The nonrestorable tooth was "atraumatically" extracted without raising a flap, and the socket was immediately grafted with the synthetic biomaterial and covered with a hemostatic fleece. No membrane was used, and the site was left uncovered without obtaining primary closure, in order to heal by secondary intention. After 12 weeks, the architecture of the ridge was preserved, and clinical observation revealed excellent soft tissue healing without loss of attached gingiva. At reentry for placement of the implant, a bone core biopsy was obtained, and primary implant stability was measured by final seating torque and resonance frequency analysis. Histological analysis revealed pronounced bone regeneration while high levels of primary implant stability were recorded. The implant was successfully loaded 12 weeks after placement. Clinical and radiological follow-up examination at two years revealed stable and successful results regarding biological, functional, and esthetic parameters.
A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombination and DNA Damage Repair
Authors: Steven Strubbe, Marieke De Bruyne, Ulrich Pannicke, Elien Beyls, Bart Vandekerckhove, Georges Leclercq, Elfride De Baere, Victoria Bordon, Anne Vral, Klaus Schwarz, Filomeen Haerynck, Tom Taghon
Journal: Front Immunol (2021)
Keywords: artemis, dna damage repair, ngs, scid, v(d)j recombination
MeSH terms: DNA Repair / genetics, DNA-Binding Proteins / genetics, Endonucleases / genetics, Severe Combined Immunodeficiency / genetics, V(D)J Recombination / genetics, Case Reports, Research Support, Non-U.S. Gov't, Female, Humans, Infant, Mutation, Pedigree, RNA Splicing, DNA-Binding Proteins, DCLRE1C protein, human, Endonucleases

Severe Combined Immune Deficiency (SCID) is a primary deficiency of the immune system in which opportunistic and recurring infections are often fatal during neonatal or infant life. SCID is caused by an increasing number of genetic defects that induce an abrogation of T lymphocyte development or function in which B and NK cells might be affected as well. Because of the increased availability and usage of next-generation sequencing (NGS), many novel variants in SCID genes are being identified and cause a heterogeneous disease spectrum. However, the molecular and functional implications of these new variants, of which some are non-coding, are often not characterized in detail. Using targeted NGS, we identified a novel homozygous c.465-1G>C splice acceptor site variant in the DCLRE1C gene in a T-B-NK+ SCID patient and fully characterized the molecular and functional impact. By performing a minigene splicing reporter assay, we revealed deregulated splicing of the DCLRE1C transcript since a cryptic splice acceptor in exon 7 was employed. This induced a frameshift and the generation of a p.Arg155Serfs*15 premature termination codon (PTC) within all DCLRE1C splice variants, resulting in the absence of full-length ARTEMIS protein. Consistently, a V(D)J recombination assay and a G0 micronucleus assay demonstrated the inability of the predicted mutant ARTEMIS protein to perform V(D)J recombination and DNA damage repair, respectively. Together, these experiments molecularly and functionally clarify how a newly identified c.465-1G>C variant in the DCLRE1C gene is responsible for inducing SCID. In a clinical context, this demonstrates how the experimental validation of new gene variants, that are identified by NGS, can facilitate the diagnosis of SCID which can be vital for implementing appropriate therapies.
Primary transitional cell carcinoma of the fallopian tube in a premenopausal woman: A case report and review of literature
Authors: Manoj R Babu, Altaf Gauhar Haji, K Chitrathara, D K Vijaykumar, Jayeeta Samanta, K R Hiran
Journal: Indian J Med Paediatr Oncol (2009)
Keywords: carcinoma ovary, fallopian tube, transitional cell carcinoma
MeSH terms: Case Reports

Transitional carcinomas are extremely rare in the fallopian tube. A 41-year-old premenopausal lady presented with colicky abdominal pain and was found to have a left-sided pelvic mass on examination. In view of the elevated CA-125 and imaging findings suggestive of ovarian mass, she underwent staging laparotomy. Pathological examination confirmed a primary transitional cell carcinoma of the left fallopian tube. Review of available literature suggested that the primary transitional cell carcinoma is probably less aggressive compared to classical adenocarcinoma of the fallopian tube, and it has to be distinguished from the recently recognized entity, parafallopian tube transitional cell carcinoma.
Exudative pharyngitis and Corynebacterium pseudodiphtheriticum: A case report and review of the literature
Authors: Kessendri Reddy, Sebastian Gericke, Helena Rabie, Colette Pienaar, Motlatji Maloba
Journal: S Afr J Infect Dis (2021)
Keywords: corynebacterium pseudodiphtheriticum clinical presentation, corynebacterium pseudodiphtheriticum disease spectrum, corynebacterium pseudodiphtheriticum laboratory identification, emerging pathogen, exudative pharyngitis
MeSH terms: Case Reports

Corynebacterium pseudodiphtheriticum is an established member of the normal flora of the respiratory tract. This organism is an emerging cause of respiratory tract infection, as well as infection of the skin and skin structures, urinary tract and other sterile sites. The syndrome of C. pseudodiphtheriticum exudative pharyngitis is a diagnostic challenge of particular relevance in recent times as this organism can be confused with Corynebacterium diphtheriae in the clinical setting and in the laboratory. We report a case of exudative pharyngitis, possibly due to C. pseudodiphtheriticum, in a 14-month old, incompletely vaccinated, human immunodeficiency virus (HIV)-positive infant and review the role of this organism in terms of its microbiological profile and identification, disease spectrum and antimicrobial susceptibility pattern.
Grade 1 endometrioid endometrial carcinoma presenting with pelvic bone metastasis: a case report and review of the literature
Authors: My-Linh T Nguyen, Christopher J Lafargue, Tarah L Pua, Sean S Tedjarati
Journal: Case Rep Obstet Gynecol (2013)

Most grade 1 endometrioid endometrial cancers are confined to the uterus at the time of diagnosis and confer a good prognosis. Rarely will a grade 1 endometrioid endometrial carcinoma present with distant metastasis, especially to the bone. We present the case of a 56-year-old woman with postmenopausal bleeding and right hip pain due to metastatic grade 1 endometrioid uterine cancer invading into the right ischium. We discuss treatment options as well as provide a review of prior published reports on bony metastasis in grade 1 endometrioid endometrial cancers. To date, this case is one of 10 others which demonstrates that even a well-differentiated, low-grade endometrioid endometrial carcinoma can progress in a highly aggressive manner.
Strongyloides Hyperinfection in a Renal Transplant Patient: Always Be on the Lookout
Authors: Murtaza Mazhar, Ijlal Akbar Ali, Nelson Iván Agudelo Higuita
Journal: Case Rep Infect Dis (2017)
MeSH terms: Case Reports

We present a case of a 71-year-old Vietnamese man with chronic kidney disease secondary to adult polycystic kidney disease. He had been a prisoner of war before undergoing a successful cadaveric renal transplant in the United States. He presented to clinic one year after the transplant with gross hematuria, productive cough, intermittent chills, and weight loss. Long standing peripheral eosinophilia of 600-1200/μL triggered further evaluation. A wet mount of stool revealed Strongyloides stercoralis larvae. A computed tomography (CT) of chest showed findings suggestive of extension of the infection to the lungs. The patient was treated with a three-week course of ivermectin with complete resolution of signs, symptoms, peripheral eosinophilia, and the positive IgG serology. Strongyloides infection in renal transplant patient is very rare and often presents with hyperinfection, associated with high mortality rates. The American Transplant Society recommends pretransplant screening with stool examination and Strongyloides stercoralis antibody in recipients and donors from endemic areas or with eosinophilia. It is imperative that healthcare professionals involved in the care of these individuals be cognizant of these recommendations as it is a very preventable and treatable entity.
Anti-N-Methyl-D-Aspartate Encephalitis as Paraneoplastic Manifestation of Germ-Cells Tumours: A Cases Report and Literature Review
Authors: Claudia Geraldine Rita, Israel Nieto Gañan, Adriano Jimenez Escrig, Ángela Carrasco Sayalero
Journal: Case Reports Immunol (2019)
MeSH terms: Case Reports

Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is the most common form of autoimmune encephalitis, caused by the interaction between an antibody and its target, located on glutamate receptor type N-methyl-D-aspartate (NMDA) of neuronal surface. There is a wide spectrum of clinical features starting by a viral-like prodrome, followed by symptoms such as psychosis, aggressive behaviour, memory loss, seizures, movement disorders, and autonomic instability. Up to 50% of the affected young female patients have germ-cells tumours as ovarian teratoma, making it essential to establish an early diagnosis through detection of specific antibodies in serum and cerebrospinal fluid (CSF). This retrospective observational study was performed in patients whom positive anti-NMDA receptor antibodies have been tested, associated with clinical manifestations that suggest autoimmune encephalitis and a germ-cell tumour confirmed by pathology. Six patients have tested positive for anti-NMDA receptor antibodies associated with a germ-cell tumour and clinical manifestations of autoimmune encephalitis. Management includes aggressive immunosuppression and surgical removal.
Posterior Microphthalmia, Peripheral Pigmentary Retinal Changes, Yellow Lesions, and Cleft Lip: A Case Report and Literature Review
Authors: Nasser G Alsaedi, Khalid Alrubaie
Journal: Case Rep Ophthalmol Med (2019)
MeSH terms: Case Reports

Purpose:
Posterior microphthalmia is a sporadic or inherited developmental ocular anomaly that may occur isolated or in association with multiple ocular and systemic anomalies. This report documents a case of posterior microphthalmia with atypical presentation including white dots in the posterior pole in addition to systemic anomalies including facial defect that can represent an underlying genetic mutation.
Method:
Case report.
Results:
A 29-year-old male with high hyperopia and history of bilateral clear lens presented with pigmentary changes and white-yellow dots in the posterior pole in both eyes. Patient had a history of cleft lip repair. A complete ocular evaluation including A/B scan and optical coherence tomography confirmed the diagnosis of posterior microphthalmia with a retinitis pigmentosa like fundus and drusen deposits in the subretinal pigment epithelium.
Conclusion:
The white-yellow drusenoid deposits in the posterior pole in association with posterior microphthalmia are poorly documented in the literature. Cases of craniofacial developmental defects in association with posterior microphthalmia may represent a genetic defect.
Polyarticular extension of pigmented villonodular synovitis to contiguous joints via pigmented villonodular tenosynovitis
Authors: David McKean, Eeke Thomee, Joseph Papanikitas, Lennard Y W Lee, Philip Yoong, Sarah Yanny, James L Teh
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Pigmented villonodular synovitis is an uncommon benign neoplastic process that affects synovial-lined joints, bursae and tendon sheaths. We describe polyarticular extension of pigmented villonodular synovitis across joints secondary to pigmented villonodular tenosynovitis. Given that treatment is required to prevent progressive destruction of the involved joint, tendon or bursa, radiologists must be vigilant for diffuse polyarticular or extrasynovial involvement to optimize patient care and initiate appropriate therapy.
Delayed Diagnosis of Psoriatic Arthritis Mutilans due to Arthritis Prior to Skin Lesion
Authors: Takeshi Mochizuki, Katsunori Ikari, Ken Okazaki
Journal: Case Rep Rheumatol (2018)
MeSH terms: Case Reports

Psoriatic arthritis (PsA) is a type of inflammatory arthritis characterized by cutaneous psoriasis, peripheral joint damage, axial joint damage, and enthesitis and is usually diagnosed after the appearance of psoriatic skin disease. PsA mutilans is relatively rare in Japan. In the present case, the patient was diagnosed with PsA with foot mutilans deformity only. Hand and spinal radiograph findings were unremarkable. As in the present case arthritis is occurred prior to the onset of skin lesion, we should make early diagnosis to prevent mutilans deformity.
Concurrent Ocular and Cerebral Toxoplasmosis in a Liver Transplant Patient Treated with Anti-CD40 Monoclonal Antibody
Authors: Roos Van Den Noortgate, Maja Kiselinova, Céline Sys, Geraldine Accou, Guy Laureys, Hans Van Vlierberghe, Frederik Berrevoet, Elke O Kreps
Journal: Case Rep Infect Dis (2023)
MeSH terms: Case Reports

Toxoplasma gondii, an obligate intracellular parasitic protozoon, usually causes a mild, acute infection followed by a latent asymptomatic phase with tissue cysts or a chronic form with recurrent retinochoroiditis. However, immunocompromised patients can cause disseminated disease due to the reactivation of the latent tissue cysts or due to a primary infection. Here, we present a rare case of bilateral ocular toxoplasmosis and concurrent subacute toxoplasma encephalitis in a 70-year-old patient on anti-CD40 treatment following his liver transplant. The diagnosis was confirmed by PCR of anterior chamber fluid and brain biopsy, and no other sites of disseminated disease were detected on PET-CT. The patient has been treated with sulfamethoxazole-trimethoprim 800/160 mg with virtually complete resolution of the neurological and ocular symptoms. Iatrogenic blockade of the CD40 pathway may elicit a particular susceptibility for CNS reactivation of T. gondii.