OpenMed/multicare-articles huggingface dataset:
High-grade endometrial stromal sarcoma as the initial presentation of an adult patient with Peutz-Jeghers Syndrome: a case report
Authors: Maria Fernanda Noriega-Iriondo, Gerardo Colon-Otero, Benjamin R Kipp, John A Copland, Matthew J Ferber, Laura A Marlow, Maegan E Roberts, Matthew W Robertson, Tri A Dinh, Steven Attia, Xochiquetzal J Geiger, Douglas L Riegert-Johnson
Journal: Hered Cancer Clin Pract (2015)
Keywords: endometrial stromal sarcomas, everolimus, gynecologic oncology, peutz-jeghers syndrome, soft tissue sarcomas
MeSH terms: Case Reports

A 46-year-old female presents with a pelvic mass and is diagnosed as having a high-grade endometrial stromal sarcoma. During surgery, she is noted to have areas of intussusception of the small bowel secondary to large hamartomatous polyps. The patient had a previous history of small bowel obstruction secondary to what had been thought to be hyperplastic polyps but represented hamartomatous polyps on further review. Additional examination revealed the presence of subtle hyperpigmented macules on the fingers leading to a diagnosis of Peutz-Jeghers Syndrome (PJS). The diagnosis was confirmed by the presence of a germ-line STK11 mutation. Immunohistochemistry analysis of the tumor showed decreased expression of STK-11 as compared to one of the patient's hamartomatous polyps. Next generation sequencing of the tumor specimen failed to demonstrate a "second hit" somatic mutation in STK-11. This case represents the first case of endometrial stromal sarcoma associated with PJS and illustrates the importance of increased awareness of this condition among oncologists. PJS is associated with dysregulation of the mTOR pathway; treatment with an mTOR inhibitor was not effective in this case.
LATE-ONSET SELF-HEALING LANGERHANS CELL HISTIOCYTOSIS: REPORT OF A VERY RARE ENTITY
Authors: Fatma Sule Afsar, Malik Ergin, Gulcihan Ozek, Canan Vergin, Ali Karakuzu, Sila Seremet
Journal: Rev Paul Pediatr (2017)
MeSH terms: Histiocytosis, Langerhans-Cell, Case Reports, Female, Humans, Infant, Remission, Spontaneous, Time Factors

Objective:
To report a case of late-onset self-healing Langerhans cell histiocytosis.
Case description:
A 4½-month-old female patient presenting with an eythematopurpuric eruption underwent a skin biopsy for histopathology and was first diagnosed with isolated cutaneous Langerhans cell histiocytosis. Her lesions regressed within a few months and she was retrospectively diagnosed with late-onset self-healing Langerhans cell histiocytosis after being without skin or systemic involvement in a follow-up four years later.
Comments:
Self-healing Langerhans cell histiocytosis, which is characterized by clonal proliferation of Langerhans cells and presents with cutaneous lesions, is a rare self-limited variant of histiocytosis and can only be diagnosed retrospectively, after the patient remains free from systemic involvement for several years. Although it presents at birth or during the neonatal period, only a few cases of its late-onset type regarding the age of onset have been reported. Purpuric lesions that appear after the neonatal period serve as a clue for late-onset self-healing Langerhans cell histiocytosis and the patients should be monitored regularly for systemic involvement if the diagnosis is confirmed by a cutaneous biopsy.
Case Report: Human Dermatitis Linked to Ornithonyssus bursa (Dermanyssoidea: Macronyssidae) Infestation in Portugal
Authors: Helga Waap, Dora Aguin-Pombo, Maria Maia
Journal: Front Vet Sci (2020)
Keywords: ornithonyssus bursa, portugal, avian-mite dermatitis, bird-mite dermatitis, chickens, gamasoidosis, poultry
MeSH terms: Case Reports

Ornithonyssus bursa (Berlese, 1888), also known as the tropical fowl mite, is a blood-feeding ectoparasite of domestic and wild birds. It is considered a serious pest to poultry in warm and tropical climates and has been reported to attack humans, causing gamasoidosis. Avian-mite dermatitis may be difficult to recognize and misdiagnosed as bites from other arthropods. The present report describes two cases of human dermatitis linked to O. bursa infestation. Both cases occurred in an apartment in a residential area in Oeiras, Portugal, where two members of the same family presented with pruritic erythematous skin eruptions disseminated over their body over a period of 4 months. The lesions were located mostly in the pelvic, gluteal, coccygeal, and perineal regions, and also on the neck, wrists and torso. On inspecting the mattresses and the covers of the bedrooms, three mites ~1 mm long by 0.5 mm wide were found. The three specimens were identified as O. bursa. Investigations tracing back the source of infestation, revealed that the mites were carried over from chickens raised 45 km away (Sesimbra, Setúbal) that, after being slaughtered for consumption, had been transported by car to the apartment in Oeiras. The chickens were farmed in an open backyard henhouse that allowed free access to several species of wild birds, including pigeons (Columba livia), turtle doves (Streptopelia decaocto), and sparrows (Passer domesticus). Recent reports suggest that O. bursa may be established in Mediterranean countries, increasing the risk of gamasoidosis. This is the first record linking O. bursa infestation of chickens with human dermatitis in continental Portugal. More research is needed to assess the extent of poultry infestation and evaluate the possible implications for the poultry industry, as well as for human health in Portugal.
An Evaluation of Rapidly Progressive Dementia Culminating in a Diagnosis of Creutzfeldt-Jakob Disease
Authors: Parmvir Parmar, Curtis L Cooper, Daniel Kobewka
Journal: Case Rep Infect Dis (2018)
MeSH terms: Case Reports

Rapidly progressive dementia is a curious and elusive clinical description of a pattern of cognitive deficits that progresses faster than typical dementia syndromes. The differential diagnosis and clinical workup for rapidly progressive dementia are quite extensive and involve searching for infectious, inflammatory, autoimmune, neoplastic, metabolic, and neurodegenerative causes. We present the case of a previously highly functional 76-year-old individual who presented with a 6-month history of rapidly progressive dementia. His most prominent symptoms were cognitive impairment, aphasia, visual hallucinations, and ataxia. Following an extensive battery of tests in hospital, the differential diagnosis remained probable CJD versus autoimmune encephalitis. He clinically deteriorated and progressed to akinetic mutism and myoclonus. He passed away 8 weeks after his initial presentation to hospital, and an autopsy confirmed a diagnosis of sporadic CJD. We use this illustrative case as a framework to discuss the clinical and diagnostic considerations in the workup for rapidly progressive dementia. We also discuss CJD and autoimmune encephalitis, the two main diagnostic possibilities in our patient, in more detail.
Case report: First report of isolated central nervous system lymphoblastic crisis in a child with chronic myeloid leukemia on dasatinib therapy
Authors: Suejung Jo, Jae Won Yoo, Seongkoo Kim, Jae Wook Lee, Soo-Ah Im, Bin Cho, Nack-Gyun Chung
Journal: Front Oncol (2023)
Keywords: dasatinib, cerebrospinal fluid study, isolated central nervous system blastic crisis, pediatric chronic myeloid leukemia, tyrosine kinase inhibitor induced optic neuropathy
MeSH terms: Case Reports

Most children with chronic myeloid leukemia (CML) present with the chronic phase (CML-CP) at diagnosis, exhibiting an excellent treatment response to contemporary tyrosine kinase inhibitors (TKIs). However, despite TKI therapy, patients with CML-CP may progress to blastic crisis (BC). CML-BC rarely occurs in extramedullary sites, and isolated central nervous system (CNS) BC is an extremely rare condition. It may with present various neurologic symptoms that necessitates differential diagnosis from other causes such as TKI toxicity. Information on the diagnosis and treatment of this condition is lacking, as are well-established diagnostic criteria. Here, we report a case of isolated CNS lymphoblastic crisis in a child with CML-CP who was treated with dasatinib. The patient, an 8-year-old girl, was admitted owing to visual disturbance and severe headache. We highlight the importance of a CSF study for the differential diagnosis of CNS BC in patients with CML-CP who present with common neurologic symptoms during TKI therapy.
Surgical treatment of a patient with human tail and multiple abnormalities of the spinal cord and column
Authors: Chunquan Cai, Ouyan Shi, Changhong Shen
Journal: Adv Orthop (2011)
MeSH terms: Case Reports

The dorsal cutaneous appendage, or so-called human tail, is often considered to be a cutaneous marker of underlying occult dysraphism. The authors present a case of human tail occurring in a 9-month-old infant with multiple abnormalities of the spinal cord and spine. Examination revealed unremarkable except for a caudal appendage and a dark pigmentation area in the low back. Neuroradiological scans revealed cleft vertebrae and bifid ribbon, split cord malformations, block vertebrae, and hemivertebra. Surgical excision of the tail and untethering the spinal cord by removal of the septum were performed. The infant had an uneventful postoperative period and was unchanged neurologically for 18 months of followup. To our knowledge, no similar case reports exist in the literature. The specific features in a rare case with a human tail treated surgically are discussed in light of the available literature.
Examine the Availability and Safety of Mucosal Cutting Biopsy Technique for Diagnosis of Gastric Submucosal Tumor
Authors: Kazuhiro Mizukami, Osamu Matsunari, Ryo Ogawa, Yuka Hirashita, Kazuhisa Okamoto, Kensuke Fukuda, Akira Sonoda, Hidetoshi Akiyama, Sotaro Ozaka, Yoshinari Kawahara, Tadayoshi Okimoto, Masaaki Kodama, Kazunari Murakami
Journal: Gastroenterol Res Pract (2019)

Objectives:
Differentiating gastrointestinal stromal tumor (GIST) from other submucosal tumors (SMTs) is important in diagnosing SMT. GIST is an immunohistological diagnosis that cannot be made from images alone. Tissue sampling of tumor sites is thus becoming increasingly important. In this study, the utility and associated complications of mucosal cutting biopsy (MCB) for gastric SMTs were investigated.
Methods:
This was a case series study. The subjects were patients aged ≥20 years old in whom an SMT was seen on esophagogastroduodenography and who underwent MCB between January 2012 and December 2016. Patient information, endoscopy findings, gastric SMT size, pathological diagnosis, and other information were gathered from medical records. The SMT size was the maximum diameter that could be visualized on EUS. The pathological diagnosis was made with hematoxylin-eosin staining, with immunostaining added to diagnose GIST. The endpoint was the histopathological diagnostic yield. Risk assessment using the Miettinen classification and modified Fletcher classification was also done for GISTs treated with surgery.
Results:
The mean tumor diameter was 15.4 mm. The tumor diameter was ≥20 mm in seven patients and <20 mm in 23 patients. The tissue-acquiring rate was 93.3%. A histological diagnosis could not be made in two patients. The only complication was that bleeding required endoscopic hemostasis during the procedure in one patient, but no subsequent bleeding or no postoperative bleeding was seen.
Conclusions:
MCB is an appropriate and safe procedure in the diagnosis of gastric SMTs. Many hospitals will be able to perform MCB if they have the environment, including skills and equipment, to perform endoscopic submucosal dissection.
Epitope Spreading: The Underlying Mechanism for Combined Membranous Lupus Nephritis and Anti-GBM Disease?
Authors: Olusola Sogbein, Tina Kochar, Marjan Afrouzian
Journal: Case Rep Nephrol (2023)
MeSH terms: Case Reports

Membranous lupus nephritis associated with anti-GBM antibodies is a rare entity, particularly in lupus nephritis patients who are serologically negative for ANA and anti-dsDNA with normal complement levels. We present an unusual case of a patient initially diagnosed with anti-GBM disease whose repeat biopsy demonstrated combined focal proliferative and membranous lupus nephritis (III + V). The first biopsy showed a granular linear pattern, and the second biopsy had multiple electron dense deposits in the subendothelial, epithelial, and mesangial regions along with podocyte effacement. Experimental research suggests that the sequential histopathological transition observed may reflect the action of immunological rearrangement and epitope spreading.
Case Report: Solitary metastasis to the appendix after curative treatment of HCC
Authors: Zun-Yi Zhang, Yu-Wei Wang, Wei Zhang, Bi-Xiang Zhang
Journal: Front Surg (2023)
Keywords: hcc, appendix, metastasis, resection, systemic treatment
MeSH terms: Case Reports

Background:
Liver cancer is now the fourth most common cancer in China. The most important factor in decreasing the overall survival is recurrence. Nearly 40%-70% of patients would be detected with intrahepatic or extrahepatic recurrence in 5 years after R0 resection. The intestine is not a usual site for extrahepatic metastasis. Only one case of hepatocellular carcinoma (HCC) metastasis to the appendix has been reported so far. So, it poses a difficulty for us to develop treatment plan.
Case presentation:
Here, we report a very rare case of a recurrent HCC patient. R0 resection was first performed on this 52-year-old men who was diagnosed with Barcelona Clinic Liver Cancer stage A HCC. Different from other cases, a solitary metastasis to the appendix was detected 5 years after the R0 resection. After discussing with the multidisciplinary team, we decided to perform surgical resection again. The final postoperative pathology confirmed HCC. Complete responses were detected in this patient after the combined treatment of transarterial chemoembolization, angiogenesis inhibitors, and immune checkpoint inhibitors.
Conclusion:
Because solitary metastasis to the appendix in HCC is very rare, this case might be the first reported in HCC patients after R0 resection. This case report highlights the efficacy of the combination of surgery, local regional therapy, angiogenesis inhibitors, and immune treatment in HCC patients with solitary metastasis to the appendix.
Bilingual language control and general purpose cognitive control among individuals with bilingual aphasia: evidence based on negative priming and flanker tasks
Authors: Tanya Dash, Bhoomika R Kar
Journal: Behav Neurol (2014)
MeSH terms: Aphasia / psychology, Cognition / physiology, Executive Function / physiology, Language, Multilingualism, Case Reports, Research Support, Non-U.S. Gov't, Adult, Comprehension / physiology, Humans, Language Tests, Male, Middle Aged, Neuropsychological Tests, Reaction Time / physiology

Background:
Bilingualism results in an added advantage with respect to cognitive control. The interaction between bilingual language control and general purpose cognitive control systems can also be understood by studying executive control among individuals with bilingual aphasia. objectives: The current study examined the subcomponents of cognitive control in bilingual aphasia. A case study approach was used to investigate whether cognitive control and language control are two separate systems and how factors related to bilingualism interact with control processes.
Methods:
Four individuals with bilingual aphasia performed a language background questionnaire, picture description task, and two experimental tasks (nonlinguistic negative priming task and linguistic and nonlinguistic versions of flanker task).
Results:
A descriptive approach was used to analyse the data using reaction time and accuracy measures. The cumulative distribution function plots were used to visualize the variations in performance across conditions. The results highlight the distinction between general purpose cognitive control and bilingual language control mechanisms.
Conclusion:
All participants showed predominant use of the reactive control mechanism to compensate for the limited resources system. Independent yet interactive systems for bilingual language control and general purpose cognitive control were postulated based on the experimental data derived from individuals with bilingual aphasia.
Gyrate atrophy-like phenotype with normal plasma ornithine and low plasma taurine
Authors: Aubhugn T Labiano, Milagros H Arroyo
Journal: GMS Ophthalmol Cases (2020)
Keywords: chorioretinal atrophy, gyrate atrophy, ornithine, taurine
MeSH terms: Case Reports

We present the case of a 39-year-old male with sectoral chorioretinal atrophy similar to that seen in gyrate atrophy (GA) but with a normal plasma ornithine level. Unlike previously reported cases of GA, he had below-normal plasma taurine concentration. Much remains unknown about the pathophysiologic mechanism underlying gyrate-like chorioretinal atrophy. The concomitant occurrence of GA-like phenotype and hypotaurinemia suggests a possible future avenue for research on this matter.
Case Report: A Case of Caprine Arthritis Encephalitis in Dairy Goat Farms in South Korea
Authors: Ga-In Son, Eui-Ju Hong, Hyun-Jin Shin
Journal: Front Vet Sci (2021)
Keywords: korea, caprine arthritis encephalitis (cae), case report, dairy goats, outbreak
MeSH terms: Case Reports

One Saanen dairy goat (Capra aegagrus hircus) farm in Korea reported that some goats showed clinical signs such as arthritis, paralysis, carpal joint swelling, and even death. We monitored clinical signs and pathological lesions. In the laboratory, we confirmed caprine arthritis encephalitis virus (CAEV) infection by polymerase chain reaction (PCR). We examined all the dairy goats on the farm and found that many of them were positive. In conclusion, CAEV infection was detected in the majority of the goats in this farm, and it induced severe clinical signs impacting productivity and causing important economic shortfalls. We need to regularly investigate all dairy goat farms, and, more importantly, inspection of the quarantine stage should be required before importation. Interestingly, we found all negative results in Korean native black goats (Capra hircus linnaeus).
Lymphoepithelioma-Like Carcinoma of the Bladder: A Case Report of a Rare and Particular Variant of Urothelial Carcinoma
Authors: Youness Jabbour, Youssef Jabri, Hamza Lamchahab, Mohammed Tbouda, Ahmed Jahid, Tarik Karmouni, Khalid El Khader, Abdellatif Koutani, Ahmed Iben Attya Andaloussi
Journal: Case Rep Urol (2018)
MeSH terms: Case Reports

Lymphoepithelioma-like carcinoma of the bladder (LELCB) is a rare variant of urothelial carcinoma first described by Zukerberg in 1991 and confirmed as a variant of urothelial carcinoma by the WHO classification of tumors of the urinary system. LELCB is characterized by a marked infiltration of lymphocytes in the area involved by the tumor which may coexist with the conventional urothelial carcinoma. LELCB are classified according to the percentage of lymphoepithelioma component within the tumor with the prognosis depending on the percentage. We report a new case of pure LELCB occurring in 63-year-old woman presenting with hematuria. Ultrasonography and cystoscopy revealed a large tumor on the left lateral wall of the bladder. Transurethral resection of the bladder tumor (TURBT) was performed. Pathological and immunohistochemical analysis revealed a high-grade muscle-invasive LELCB (G3pT2). The patient underwent an adjuvant systemic chemotherapy with no recurrence after a ten-month follow-up. To our knowledge, this is the second Moroccan case of LELCB reported in the English literature. Although its rare occurrence prognosis and ideal therapeutic management of LELCB have not been clearly established yet, literature findings encourage the adoption of a conservative approach in treatment of LELCB.
Relapsing Polychondritis following Treatment with Secukinumab for Ankylosing Spondylitis: Case Report and Review of the Literature
Authors: Alexander Zheutlin, Elena Schiopu
Journal: Case Rep Rheumatol (2018)
MeSH terms: Case Reports

Relapsing polychondritis (RP) is an autoimmune disorder that often occurs concomitantly with other autoimmune diseases, though RP has been infrequently associated with ankylosing spondylitis (AS). There is a small, but growing, body of the literature demonstrating case reports describing RP secondary to AS in patients treated with tumor necrosis alpha inhibitors (TNFi's). We present the first case in which RP developed in AS while treated with an interleukin 17A inhibitor (IL-17Ai), secukinumab. With this case report, we hope to raise physician awareness of the possible autoimmune disorders that may arise subsequent to novel immunomodulation therapies, particularly that RP may develop subsequent to inhibition of IL-17A.
First Association of Interleukin 12 Receptor Beta 1 Deficiency with Sjögren's Syndrome
Authors: Georgios Sogkas, Faranaz Atschekzei, Vivien Schacht, Christian von Falck, Alexandra Jablonka, Roland Jacobs, Matthias Stoll, Torsten Witte, Reinhold E Schmidt
Journal: Front Immunol (2017)
Keywords: mendelian susceptibility to mycobacterial disease, sjögren’s syndrome, autoimmunity, interleukin-12, interleukin-12 receptor beta 1 subunit, interleukin-12 receptor beta 1 subunit deficiency, primary immunodeficiency

Introduction:
Interleukin 12 receptor beta 1 (IL12Rβ1) deficiency is a primary immunodeficiency resulting mainly in susceptibility to opportunistic infection by non-tuberculous, environmental mycobacteria and severe infection caused by Salmonella spp. Till now, less than 300 patients with IL12Rβ1 deficiency have been reported. Among them, only three have been described to develop autoimmunity.
Case presentation:
We present the case of a 50-year-old male with IL12Rβ1 deficiency due to compound heterozygosity [c. 1623_1624delGCinsTT (pGln542Stop) and c.1791 + 2T > C (donor splice site)], who-18 months after diagnosis of disseminated BCGitis-presented with recurrent fever and sicca syndrome. No indication of an infectious origin of these symptoms could be found at that point. The diagnosis of a Sjögren's syndrome (SS) was made on the basis of fulfilled American-European consensus classification criteria, including a positive minor salivary gland biopsy.
Conclusion:
Apart from persistent antigenic stimulation, which may drive autoimmune inflammation in primary immunodeficiency, evidence on the involvement of interleukin 12 in pathogenesis of SS suggests that the same immunological mechanism may underlie both defense against infection and the maintenance of tolerance. To our knowledge, this is the first report of a case of autoimmunity in the form of SS in a patient with a primary immunodeficiency and one of the rare cases of IL12Rβ1 deficiency with manifested autoimmunity.
Occupational asthma in antibiotic manufacturing workers: case reports and systematic review
Authors: Sara Díaz Angulo, Joanna Szram, Jenny Welch, Julie Cannon, Paul Cullinan
Journal: J Allergy (Cairo) (2011)

Background. The risks of occupational asthma (OA) from antibiotics are uncertain. We report 4 new cases and a systematic review of the literature. Methods. Cases were identified through a specialist clinic, each underwent specific provocation testing (SPT). We subsequently reviewed the published literature. Results. The patients were employed in the manufacture of antibiotics; penicillins were implicated in three cases, in the fourth erythromycin, not previously reported to cause OA. In two, there was evidence of specific IgE sensitisation. At SPT each developed a late asthmatic reaction and increased bronchial hyperresponsiveness. 36 case reports have been previously published, 26 (citing penicillins or cephalosporins). Seven cross-sectional workplace-based surveys found prevalences of 5-8%. Conclusions. OA in antibiotic manufacturers may be more common than is generally recognised. Its pathogenesis remains unclear; immunological tests are of uncertain value and potential cases require confirmation with SPT. Further study of its frequency, mechanisms, and diagnosis is required.