OpenMed/multicare-articles huggingface dataset:
Trisomy 8 presentation by inflammatory manifestations and its response to thalidomide: two case reports and narrative review
Authors: Xiaohua Zhang, Yan Zhao, Yuting Pan, Jing Jin, Zhidan Fan, Haiguo Yu
Journal: Front Pediatr (2024)
Keywords: behcet’s disease, gastrointestinal involvement, myelodysplastic syndrome, thalidomide, trisomy 8
MeSH terms: Case Reports

Objective:
It has been recognized that there is a nexus among Trisomy 8 (T8), Behcet's disease (BD), and myelodysplastic syndrome (MDS). We reported a series of inflammatory features in 2 children with T8 without hematological involvement.
Methods:
2 children with trisomy 8 who were excluded from MDS were retrospectively collected from the Department of Rheumatology and Immunology, Children's Hospital of Nanjing Medical University, Nanjing.
Results:
Patients developed a range of inflammatory manifestations before a diagnosis of T8. The clinical manifestations of T8 patients vary from normal to severely disabled. Glucocorticoids and thalidomide can effectively relieve inflammation in patients with T8.
Conclusion:
The early clinical manifestations of T8 in children lack specificity, and the diagnosis is mainly based on karyotype analysis, gastrointestinal endoscopy and bone marrow aspiration findings. Active and effective immunoregulatory therapy and long-term follow-up can improve the prognosis of patients with T8.
Diagnosis of mixed infection and a primary immunodeficiency disease using next-generation sequencing: a case report
Authors: Xiaolei Zhang, Yixue Wang, Daly Pen, Jing Liu, Qinhua Zhou, Yao Wang, Huaqing Zhong, Tingyan Liu, Weiming Chen, Bingbing Wu, Yang Zhou, Chuanqing Wang, Xiangyu Li, Fangyou Yu, Xiaochuan Wang, Guoping Lu, Gangfeng Yan
Journal: Front Cell Infect Microbiol (2023)
Keywords: immunodeficiency, major histocompatibility complex class ii, mycobacterium abscessus, next-generation sequencing, whole exome sequencing
MeSH terms: Coinfection, Primary Immunodeficiency Diseases / diagnosis, Primary Immunodeficiency Diseases / genetics, Case Reports, Research Support, Non-U.S. Gov't, Aftercare, Child, High-Throughput Nucleotide Sequencing, Humans, Male, Patient Discharge

Major Histocompatibility Complex Class II (MHC II) deficiency is a rare primary immunodeficiency disorder (PID) with autosomal recessive inheritance pattern. The outcome is almost fatal owing to delayed diagnosis and lacking of effective therapy. Therefore, prompt diagnosis, timely and effective treatment are critical. Here, we report a 117-day-old boy with diarrhea, cough, cyanosis and tachypnea who was failed to be cured by empiric antimicrobial therapy initially and progressed to severe pneumonia and respiratory failure. The patient was admitted to the pediatric intensive care unit (PICU) immediately and underwent a series of tests. Blood examination revealed elevated levels of inflammatory markers and cytomegalovirus DNA. Imaging findings showed signs of severe infection of lungs. Finally, the diagnosis was obtained mainly through next-generation sequencing (NGS). We found out what pathogenic microorganism he was infected via repeated conventional detection methods and metagenomic next-generation sequencing (mNGS) of sputum and bronchoalveolar lavage fluid (BALF). And his whole exome sequencing (WES) examination suggested that CIITA gene was heterozygous mutation, a kind of MHC II deficiency diseases. After aggressive respiratory support and repeated adjustment of antimicrobial regimens, the patient was weaned from ventilator on the 56th day of admission and transferred to the immunology ward on the 60th day. The patient was successful discharged after hospitalizing for 91 days, taking antimicrobials orally to prevent infections post-discharge and waiting for stem cell transplantation. This case highlights the potential importance of NGS in providing better diagnostic testing for unexplained infection and illness. Furthermore, pathogens would be identified more accurately if conventional detection techniques were combined with mNGS.
Case report: GLP1RA for the treatment of diabetes in liver transplanted people. Do they increase the risk of pancreatitis?
Authors: Valeria Grancini, Irene Cogliati, Alessia Gaglio, Veronica Resi, Emanuela Orsi
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: glp1ras, acute pancreatitis, incretin agents, liver transplantation, pancreatitis
MeSH terms: Diabetes Mellitus, Type 2 / complications, Glucagon-Like Peptide-1 Receptor / agonists, Hypoglycemic Agents / adverse effects, Hypoglycemic Agents / therapeutic use, Liver Transplantation / adverse effects, Pancreatitis / etiology, Case Reports, Female, Humans, Male, Middle Aged, Risk Factors, Glucagon-Like Peptide-1 Receptor, Hypoglycemic Agents

The incidence of acute pancreatitis (AP) in liver transplanted people is reported to be 1.5-8%. On the other hand, the evidence for a causal relationship between glucagon-like peptide 1 receptor agonists (GLP1RAs) and pancreatitis in people with type 2 diabetes is still weak. In addition, there are currently no data on a possible increased risk of AP in liver-transplanted individuals with diabetes treated with GLP1RAs. In a population of liver-transplanted individuals with diabetes receiving GLP1RA-based therapy, we reported an incidence of AP of 3.0% (two subjects). No cases were reported in liver-transplanted individuals with diabetes receiving SGLT2 inhibitors, insulin or metformin, neither in kidney or lung-transplanted patients treated with GLP1RAs. In both patients with AP, the only additional risk factor for its development was a history of re-transplantation (liver or combined kidney/liver). For this reason, we suggest particular caution when considering GLP1RAs-based therapies in liver transplanted patients with multiple risk factors for AP, such as a history of repeated and complex abdominal surgery.
Current landscape of primary small bowel leiomyosarcoma: cases report and a decade of insights
Authors: Junjie Zhou, Houyun Xu, Jibo Hu, Qiang Hong, Xiping Yu, Wei Liu, Jiaxin Zhao, Hongjie Hu
Journal: Front Oncol (2024)
Keywords: leiomyosarcoma, preoperative diagnosis, small bowel, subtype, surgical operation
MeSH terms: Case Reports

The incidence of leiomyosarcoma (LMS) is about 4-5/100,000 individuals per year. LMSs occurring in the small bowel are even rarer, and their preoperative diagnosis is very difficult. We described two patients with pathologically confirmed small bowel LMS and analyzed their clinical and medical imaging features. Similar cases reported in English in Pubmed database over the past decade were reviewed and summarized. These tumors were categorized by the growth direction and relationship with the intestinal lumen into three types: intraluminal (n = 10), intermural (n = 3), and extraluminal (n = 7). Notably, among the three types of LMS, the intramural leiomyosarcoma stands out as a noteworthy subtype. Emerging evidence suggests that smaller tumor size (< 5 cm) and the intraluminal type may serve as favorable prognostic indicators, while the extraluminal type is associated with relatively poor prognosis. Furthermore, the integration of imaging features with CA125 and LDH biomarkers holds promise for potential diagnostic value in LMS.
A case of gastrolithiasis produced by a 5-day diet
Authors: Akitoshi Hakoda, Kazuki Takayama, Shun Sasaki, Yosuke Mori, Hironiri Tanaka, Noriaki Sugawara, Taro Iwatsubo, Kazuhiro Ota, Hiroki Nishikawa
Journal: DEN Open (2024)
Keywords: anorexia, diet, endoscopy, gastrolith, stomach
MeSH terms: Case Reports

A 55-year-old man with a history of distal gastrectomy was admitted to our hospital due to gastrointestinal bleeding from an anastomotic ulcer. After endoscopic hemostasis, his oral intake resumed after 1 day of fasting; however, he could not ingest food because of early satiety and nausea on the fifth day of oral intake resumption. Esophagogastroduodenoscopy was performed again to investigate the cause of anorexia and revealed a massive gastrolithiasis that was not observed in the previous esophagogastroduodenoscopy, which was diagnosed as the cause of his anorexia. Gastrolithiasis was treated with endoscopic removal the day after diagnosis, and the patient was discharged from the hospital after his symptoms resolved. Herein, we report the case of a patient with gastrolithiasis that developed and proliferated within 5 days.
Central Mucoepidermoid Carcinoma Radiographically Mimicking an Odontogenic Lesion
Authors: Lucas Novaes Teixeira, Erick Gomes Perez, Ana Cláudia Garcia Rosa, Sandro Régis Rodrigues Lima, Mariana Quirino Silveira Soares, Fabricio Passador-Santos, Vera Cavalcanti de Araújo, Andresa Borges Soares
Journal: Case Rep Dent (2023)
MeSH terms: Case Reports

Central mucoepidermoid carcinoma (CMEC) is a rare pathological entity with only a few case reports in the literature. The present case reported an uncommon occurrence of CMEC mimicking an odontogenic lesion in a young patient. A 17-year-old female patient sought dental care due to a slight swelling located in the posterior region of the mandible on the left side. Radiographic exams revealed an osteolytic lesion with defined limits in relation to proximity to the pericoronal follicle of tooth #38. The clinical and radiographic diagnostic hypothesis was an odontogenic lesion. Histological sections showed the presence of a neoplasm of glandular origin, not encapsulated, with a predominantly cystic growth pattern. The neoplasm consisted of mucous, intermediate, and squamous cells. In the immunohistochemical staining, the neoplastic cells were positive for cytokeratin 7. Mucous cells were positive for PAS with diastase digestion. The final diagnosis consisted of mucoepidermoid carcinoma. The tumor was removed surgically, and the patient has shown no signs of relapse nor recurrence. In conclusion, CMEC may mimic radiographic features of various pathologies, but despite its rarity, clinicians and oral radiologists should consider CMEC as a diagnostic hypothesis for jaw lesions.
Case Report: Thrombus aspiration and in situ thrombolysis via a Guidezilla guide extension catheter in a patient with high-risk pulmonary embolism
Authors: Jing-Wen Ding, Yu-Ang Jiang, Peng Li, Hong-Xiang Xie, Huai-Sheng Ding
Journal: Front Cardiovasc Med (2024)
Keywords: guidezilla catheter, case report, catheter-directed thrombolysis, pulmonary embolism, thrombus aspiration
MeSH terms: Case Reports

Standard catheter-directed thrombolysis (CDT) and thrombus aspiration are considered potentially promising approaches for reopening the embolism-related pulmonary artery in patients with pulmonary embolism (PE) with high thrombotic burden and deteriorating hemodynamics, especially in those for whom systemic thrombolysis is contraindicated or has failed. However, the constrained accessibility of dedicated catheters has impeded the potential benefits of standard CDT in developing countries. The Guidezilla guide extension catheter (GEC) with a larger diameter and extended length is widely used in challenging coronary anatomy. Nevertheless, there have been few reports on the application of the Guidezilla GEC as a novel option for patients with massive PE when dedicated catheters and surgical thrombectomy are not available. In this case report, we demonstrated that thrombus aspiration and in situ thrombolysis through the Guidezilla GEC are applicable to patients with PE in whom systemic thrombolysis is contraindicated, resulting in successful reperfusion and positive clinical outcomes.
Non-Islet Cell Tumor Hypoglycemia Secondary to a 20 cm Intra-Abdominal Leiomyoma in a Male Patient: A Case Report and Literature Review
Authors: Michelle D Lippincott, James D McDonald, Marilyn M Bui, Ricardo J Gonzalez, Rachel K Voss
Journal: Case Rep Surg (2024)
MeSH terms: Case Reports

Non-islet cell tumor hypoglycemia (NICTH) is a rare clinical entity associated with large mesenchymal tumors. Its pathogenesis is most commonly mediated by tumor overproduction of "big" insulin-like growth factor-2. Here, we present a 54-year-old male who presented with noninsulin-mediated hypoglycemia and a 20 cm intra-abdominal leiomyoma. His hypoglycemic episodes resolved after the resection of his tumor. To our knowledge, this is the only documented case in the English literature of NICTH associated with leiomyoma in a male patient. NICTH due to a benign leiomyoma should be in the differential diagnosis for any patient with hypoglycemia and an abdominal mass.
Hepatobiliary Brucellosis: Brucella Bacteremia Presenting with Refractory Hepatobiliary Infection
Authors: Dania El Hallak, Mae Al Habbal, Wael Hassan Zorkot
Journal: Case Rep Crit Care (2023)
MeSH terms: Case Reports

Brucellosis often presents with common and nonspecific symptoms such as fever, malaise, and arthralgia but can also involve primary organs. Intra-abdominal involvement is rare. We report a case of hepatobiliary brucellosis presenting as a refractory hepatobiliary infection in a healthy young adult with no underlying rheumatologic disease or history of exposure to risk factors. Detection of Brucella in the blood led to a shift in the patient's management and consequently her recovery.
Case Report: ALPPS hepatectomy, an alternative to liver transplantation in central PRETEXT III hepatoblastomas: a case series
Authors: Isabel Cristina Garcia Moreno, Sergio Alzate-Ricaurte, Edgar Dario Alzate Gallego, Daniela Hincapie-Ayala, Oscar Javier Serrano Ardila, Jorge Ivan Villegas Otalora
Journal: Front Pediatr (2024)
Keywords: alpps, pretext iii, case series, hepatoblastoma, liver transplantation
MeSH terms: Case Reports

Introduction:
Hepatoblastoma is the most common malignant primary liver tumor in the pediatric population, accounting for 67% of cases in the United States. Surgical resection is the only curative treatment option; however, it can be performed in only 10% of patients with primary tumors. The two most common limitations for resection are the need for extensive resections and tumors in central locations. The therapeutic hypertrophy of healthy tissue achieved with ALPPS (Associating Liver Partition and Portal vein ligation for Staged Hepatectomy) enables larger resections and has been successfully employed in the pediatric population in recent years.
Objective:
To present three cases of patients with centrally located PRETEXT II or III hepatoblastomas who underwent ALPPS procedure as a viable therapeutic alternative to liver transplantation.
Discussion and results:
Central PRETEXT III hepatoblastomas are typically indications for liver transplantation. Transplantation offers high five-year survival rates (73%). However, the associated morbidity, healthcare system costs, and limited availability make it necessary to explore alternative options. Series have reported the successful application of the ALPPS procedure in PRETEXT II and PRETEXT III hepatoblastomas in other locations. Therapeutically induced hypertrophy, characterized by an increase in the volume of healthy tissue in unaffected lobes or segments, enabled the resection of previously deemed unresectable lesions. The patients experienced uncomplicated postoperative courses and expected reduction in tumor markers. Chemotherapy selection followed the guidelines outlined in Block C of the SIOPEL IV protocol.
Conclusions:
ALPPS hepatectomy is a viable therapeutic option for patients with centrally located PRETEXT III or II hepatoblastomas.
Staying connected: implementing avatar robots at schools in Germany and Japan
Authors: Celia Spoden, Arisa Ema
Journal: Front Digit Health (2024)
Keywords: germany, japan, avatar robots, childhood illness, children with disabilities, school absenteeism, telepresence robots

Introduction:
With advancements in communication technologies and internet connectivity, avatar robots for children who cannot attend school in person due to illness or disabilities have become more widespread. Introducing these technologies to the classroom aims to offer possibilities of social and educational inclusion. While implementation is still at an experimental level, several of these avatars have already been introduced as a marketable service. However, various obstacles impede widespread acceptance.
Methods:
In our explorative qualitative case study we conducted semi-structured interviews with eight individuals involved in the implementation of the avatar robots AV1 in Germany and eleven participants involved with implementing OriHime in Japan. We analyzed and compared implementation processes, application areas, access and eligibility, and the potential and limitations of avatars at schools.
Results:
We identified structural similarities and differences in both countries. In the German cases the target is defined as temporary use for children who cannot attend school in person because of childhood illness, with the clear goal of returning to school. Whereas in Japan OriHime is also implemented for children with physical or developmental disabilities, or who cannot attend school in person for other reasons.
Discussion:
Our study suggests that avatar technologies bear high potential for children to stay socially and educationally connected. Yet, structures need establishing that grant equal access to avatar technologies. These include educational board regulations, budgets for funding avatar technologies and making them accessible to the public, and privacy protection standards that are adequate, yet do not create implementation hurdles that are too high. Furthermore, guidelines or training sessions on technical, educational and psychosocial aspects of including avatar technologies in the classroom for teachers are important for successful implementation. Since our Japanese cases suggest that expanding the area of application beyond childhood illness is promising, further research on the benefits for different groups is needed.
Labour migration of young women from the village to the capital in Bulgaria: A case study of woman servantry in Vakarel
Authors: Petko Hristov, Niya Spasova
Journal: Open Res Eur (2024)
Keywords: shopluk, vakarel, female labor mobility, servantry, social changes

The article is devoted to the maiden servantry in Bulgaria - a relatively late social phenomenon, but with important cultural and social consequences. It is also an indicator of the early modernization of Bulgarian society in the first half of the twentieth century. Using the example of Vakarel in Middle Western Bulgaria, the authors define servantry as a social mediator, facilitating the spread of urban culture and European models in the Shopluk villages around the capital Sofia. The emergence and development of female servantry as an enduring and sustainable social practice charts a path of change in marriage strategies and family patterns in a small rural community and thus in society as a whole. Gradually, from an escape from the adverse socio-economic factors and the harsh life in the village, temporary employment as a servant in the home of a wealthy family in the big city became an important moment in the young girl's growth and socialization, a condition for successful realization of family strategies in the rural environment. As a social phenomenon, servanthood has remained positively valued in the collective memory of the locals as part of the oral stories told within the family.
Case report: A familial B-acute lymphoblastic leukemia associated with a new germline pathogenic variant in PAX5. The first report in Mexico
Authors: Joaquín García-Solorio, Octavio Martínez-Villegas, Ulises Rodríguez-Corona, Carolina Molina-Garay, Marco Jiménez-Olivares, Karol Carrillo-Sanchez, Elvia C Mendoza-Caamal, Anallely Muñoz-Rivas, Beatriz E Villegas-Torres, Alejandra Cervera, Luis L Flores-Lagunes, Carmen Alaez-Verson
Journal: Front Oncol (2024)
Keywords: pax5, wes, acute lymphoblastic leukemia, germline variant, leukemia predisposition
MeSH terms: Case Reports

B-cell acute lymphoblastic leukemia (B-ALL) is one of the most common childhood cancers worldwide. Although most cases are sporadic, some familial forms, inherited as autosomal dominant traits with incomplete penetrance, have been described over the last few years. Germline pathogenic variants in transcription factors such as PAX5, IKZF1, and ETV6 have been identified as causal in familial forms. The proband was a 7-year-old Mexican girl diagnosed with high-risk B-ALL at five years and 11 months of age. Family history showed that the proband's mother had high-risk B-ALL at 16 months of age. She received chemotherapy and was discharged at nine years of age without any evidence of recurrence of leukemia. The proband's father was outside the family nucleus, but no history of leukemia or cancer was present up to the last contact with the mother. We performed exome sequencing on the proband and the proband's mother and identified the PAX5 variant NM_016734.3:c.963del: p.(Ala322LeufsTer11), located in the transactivation domain of the PAX5 protein. The variant was classified as probably pathogenic according to the ACMG criteria. To the best of our knowledge, this is the first Mexican family with an inherited increased risk of childhood B-ALL caused by a novel germline pathogenic variant of PAX5. Identifying individuals with a hereditary predisposition to cancer is essential for modern oncological practice. Individuals at high risk of leukemia would benefit from hematopoietic stem cell transplantation, but family members carrying the pathogenic variant should be excluded as hematopoietic stem cell donors.
Supernumerary lacrimal puncta: case series and review of the literature
Authors: Omar Mahmoud Solyman, Hashem Abdulaziz Abu Serhan, Mohammad Ali Tahboub, Mokhtar Mohamed Ibrahim Abushanab, Hesham Ali Hashem, Amr Mohammed Aref, Ahmed Sobh Abo Obaia, Hesham Foad Kamel
Journal: Pan Afr Med J (2023)
Keywords: supernumerary puncta, accessory punctum, double lacrimal puncta, dry eye, epiphora, lacrimal drainage system, punctum duplication
MeSH terms: Dry Eye Syndromes, Lacrimal Apparatus Diseases / diagnosis, Lacrimal Apparatus Diseases / therapy, Lacrimal Apparatus, Review, Case Reports, Adult, Aged, Eyelids, Female, Humans, Male, Middle Aged, Research, Retrospective Studies

We report a case series of supernumerary puncta-canaliculi, a very rare congenital anomaly, and describe different clinical presentations and new treatment options. This is a retrospective chart review of patients diagnosed with supernumerary lacrimal puncta during the time between June 2015 and December 2021 at the Research Institute of Ophthalmology, Giza, Egypt. Four patients (two females and two males) with a mean presenting age of 54 ± 14 years had unilateral double puncta. Of those four patients, three had double puncta on the right lower eyelid whereas one had double puncta on the left upper and lower eyelid. In one of the three patients, the double puncta anomaly was an incidental finding, and the patient was asymptomatic. The other three patients had associated epiphora. All four patients were found to have patent double puncta with no mechanical obstruction. No surgical interventions were necessary for all four patients as one resolved after discontinuing the topical eye drops. Another patient resolved after the diagnostic probing of the puncta, and the third asymptomatic patient required no interventions. Epiphora in the fourth patient resolved with botulinum toxin injection in the lacrimal gland. Accessory lacrimal puncta can present in patients as an incidental asymptomatic finding or patients may present with epiphora. Patients who present with unilateral epiphora, dry eye, or canaliculitis should be carefully evaluated with a detailed slit-lamp examination using lid eversion to appreciate potentially easily missed supernumerary lacrimal puncta.