OpenMed/multicare-articles huggingface dataset:
Case Report: A Novel Compound Heterozygous Mutation in IL-10RA in a Chinese Child With Very Early-Onset Inflammatory Bowel Disease
Authors: Fang Dong, Fangfei Xiao, Ting Ge, Xiaolu Li, Wuhen Xu, Shengnan Wu, Ting Zhang, Yizhong Wang
Journal: Front Pediatr (2021)
Keywords: il10ra, stat3 phosphorylation analysis, veo-ibd, compound heterozygote mutation, whole-exome sequencing
MeSH terms: Case Reports

Very early-onset inflammatory bowel disease (VEO-IBD) is defined as IBD diagnosed in children younger than 6 years of age. VEO-IBD is often associated with a monogenic etiology or primary immune deficiency. Here, we report the case of a 7-month-old Chinese girl diagnosed with VEO-IBD who had a variant in the interleukin-10 receptor A (IL-10-RA) gene. The patient presented with recurrent fevers, abdominal pain, diarrhea, perianal abscesses, and oral ulcers. Whole-exome sequencing (WES) identified a novel compound heterozygote mutation, c.395T>G (p.Leu132Arg)/ex.1del (p.?), in the IL-10RA gene of the patient. The missense mutation c.395T>G (p.Leu132Arg) was inherited from her mother, and ex.1del (p.?) was inherited from her father. Neither mutation has been reported previously. The IL-10RA function of the patient was defective, as demonstrated by a failure of signal transducer and activator of transcription 3 (STAT3) activation in peripheral blood mononuclear cells (PBMCs) stimulated with recombinant IL-10. The patient underwent matched unrelated peripheral blood hematopoietic stem cell transplantation (HSCT), and the clinical manifestations were dramatically improved. In summary, we identified a novel compound heterozygote mutation, c.395T>G (p.Leu132Arg)/ex.1del (p.?), in IL-10RA that caused VEO-IBD in a Chinese child, which further expands the mutational spectrum of IL-10RA.
CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review
Authors: Sandra Sabbagh, Stephanie Antoun, André Mégarbané
Journal: Case Rep Med (2020)
MeSH terms: Case Reports

Lethal congenital contracture syndrome type 7 (LCCS7) and congenital hypomyelinating neuropathy type 3 (CHN3) are rare autosomal recessive diseases, characterized by severe neonatal hypotonia, polyhydramnios, arthrogryposis, facial diplegia, and severe motor paralysis, leading to death in early infancy. They are related to mutations in the CNTNAP1 (contactin associated protein 1) gene, playing an important role in myelination. Recent studies have shown that both diseases could present with a wide phenotypic spectrum, with promising survival up to early childhood. We report on a 7-year-old boy from a nonconsanguineous Lebanese family presenting with neonatal hypotonia, respiratory distress, and arthrogryposis. Molecular analysis revealed the presence of a pathogenic variant in the CNTNAP1 gene leading to a premature stop codon: NM_003632.2:c.3361C>T p.(Arg1121 ∗ ). A review of the literature is discussed.
A Rare Case of Ovarian Serous Borderline Tumor with Brain Metastasis
Authors: Sonia Veran-Taguibao, Roberto Alvaro A Taguibao, Nicolas Gallegos, Ted Farzaneh, Ronald Kim, Fritz Lin, Di Lu
Journal: Case Rep Pathol (2019)
MeSH terms: Case Reports

Background. Serous borderline tumor represents a group of noninvasive tumor of the ovary bridging between benign serous cystadenoma and serous carcinoma. They are commonly seen in younger women and usually have an excellent outcome but seldom show local recurrence (J. F. Leake et al. 1991). Metastasis to the lymph nodes has rarely been reported (M. D. Chamberlin et al., 2001; M. B. Verbruggen et al., 2006). Moreover, the brain is exceptionally a rare metastatic site for ovarian tumor. There is one case of an advanced staged SBT with micropapillary pattern metastasis to the brain recently and by far it is the most distant metastasis reported (M. D. Martin et al., 2017). However, to the best of our knowledge, no report has been documented for a recurrent stage 1 typical SBT metastasizing to the brain.
Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report
Authors: Giovanni Del Borrello, Maurizio Miano, Concetta Micalizzi, Michela Lupia, Isabella Ceccherini, Alice Grossi, Andrea Cavalli, Stefano Gustincich, Marta Rusmini, Maura Faraci, Gianluca Dell'Orso, Ugo Ramenghi, Alessio Mesini, Erica Ricci, Maurizio Schiavone, Natascia Di Iorgi, Carlo Dufour
Journal: Front Immunol (2022)
Keywords: bone marrow failure disorders, cartilage-hair hypoplasia (chh), pure red cell aplasia (prca), sirolimus, whole-genome sequencing (wgs)
MeSH terms: Anemia, Erythropoiesis, Case Reports, Research Support, Non-U.S. Gov't, Adult, Female, Hair / abnormalities, Hirschsprung Disease, Humans, Osteochondrodysplasias / congenital, Primary Immunodeficiency Diseases, Sirolimus / therapeutic use, Sirolimus, Cartilage-hair hypoplasia, Pyle disease

Cartilage-hair hypoplasia (CHH) is a syndromic immunodeficiency characterized by metaphyseal dysplasia, cancer predisposition, and varying degrees of anemia. It may present as severe combined immunodeficiency in infancy, or slowly progress until fully manifesting in late adolescence/adulthood. No targeted treatment is currently available, and patients are usually managed with supportive measures, or are offered a bone marrow transplant if the clinical phenotype is severe and a suitable donor is available. We report the case of a young girl presenting with transfusion-dependent erythropoietic failure and immunological features resembling autoimmune lymphoproliferative syndrome who responded well to empirical sirolimus. She later developed a marked growth delay, which was ultimately attributed to metaphyseal dysplasia. A diagnosis of CHH was reached through whole-genome sequencing (WGS), after a less sensitive genetic diagnostic strategy failed. The patient eventually underwent a haploidentical bone marrow transplant due to progressive combined immunodeficiency manifested as cryptococcal meningoencephalitis. This case illustrates the potential role of sirolimus in correcting anemia and partially controlling the immune aberrations associated with CHH, and serves as a reminder of the invaluable role of WGS in diagnosing patients with complex and atypical presentations.
Acute bilateral serous retinal detachments with spontaneous resolution in a 6-year-old boy
Authors: Sophie Van Camp, Steffi Vande Walle, Ingele Casteels, Julie Jacob, Cathérine Cassiman, Carine Wouters, Pieter-Paul Schauwvlieghe
Journal: GMS Ophthalmol Cases (2020)
Keywords: acute exudative polymorphous vitelliform maculopathy, serous retinal detachment, young child
MeSH terms: Case Reports

A healthy 6-year-old boy presented with acute bilateral vision loss, multiple serous retinal detachments between the vascular arcades and a thickened choroid. Spontaneous resolution occurred over several weeks. We hypothesize that the clinical constellation in our patient is suggestive of acute exudative polymorphous vitelliform maculopathy (AEPVM) or might be an atypical presentation of Vogt-Koyanagi-Harada (VKH) disease. We propose that it was caused by an autoimmune-mediated activation of inflammatory cells at the level of the choroid, induced by an unknown trigger.
How do hospitals respond to feedback about blood transfusion practice? A multiple case study investigation
Authors: Natalie J Gould, Fabiana Lorencatto, Camilla During, Megan Rowley, Liz Glidewell, Rebecca Walwyn, Susan Michie, Robbie Foy, Simon J Stanworth, Jeremy M Grimshaw, Jill J Francis
Journal: PLoS One (2018)
MeSH terms: Blood Transfusion, Feedback, Hospitals, Medical Audit, Research Support, Non-U.S. Gov't, Health Personnel, Humans, Information Dissemination, Interviews as Topic, Models, Theoretical, Organizational Innovation, Quality Improvement, United Kingdom

National clinical audits play key roles in improving care and driving system-wide change. However, effects of audit and feedback depend upon both reach (e.g. relevant staff receiving the feedback) and response (e.g. staff regulating their behaviour accordingly). This study aimed to investigate which hospital staff initially receive feedback and formulate a response, how feedback is disseminated within hospitals, and how responses are enacted (including barriers and enablers to enactment). Using a multiple case study approach, we purposively sampled four UK hospitals for variation in infrastructure and resources. We conducted semi-structured interviews with staff from transfusion-related roles and observed Hospital Transfusion Committee meetings. Interviews and analysis were based on the Theoretical Domains Framework of behaviour change. We coded interview transcripts into theoretical domains, then inductively identified themes within each domain to identify barriers and enablers. We also analysed data to identify which staff currently receive feedback and how dissemination is managed within the hospital. Members of the hospital's transfusion team initially received feedback in all cases, and were primarily responsible for disseminating and responding, facilitated through the Hospital Transfusion Committee. At each hospital, key individuals involved in prescribing transfusions reported never having received feedback from a national audit. Whether audits were discussed and actions explicitly agreed in Committee meetings varied between hospitals. Key enablers of action across all cases included clear lines of responsibility and strategies to remind staff about recommendations. Barriers included difficulties disseminating to relevant staff and needing to amend feedback to make it appropriate for local use. Appropriate responses by hospital staff to feedback about blood transfusion practice depend upon supportive infrastructures and role clarity. Hospitals could benefit from support to disseminate feedback systematically, particularly to frontline staff involved in the behaviours being audited, and practical tools to support strategic decision-making (e.g. action-planning around local response to feedback).
Preprosthesis fracture of femoral and loosening of the femoral prosthesis during closed reduction of hip dislocation: A case report
Authors: Jing Zeng, Qingye Qiu, Haifeng Lan, Zhiguo Wang
Journal: Int J Surg Case Rep (2020)
Keywords: bipolar hemiarthroplasty, dislocation, fracture, loosening, prosthesis
MeSH terms: Case Reports

Introduction:
Dislocation after bipolar hip hemiarthroplasty is an uncommon complication. Although closed manoeuvre reduction under general anaesthesia is a common and effective method for dislocation of the hemiarthroplasty. However, closed reduction leads to preprosthesis fracture of femoral and loosening of femoral prosthesis is a rare situation, which requires incision reduction and a revision hemiarthroplasty.
Presentation of case:
A 80-year-old female had cementless bipolar hip hemiarthroplasty due to a right femoral neck fracture. At the 11 days of postoperation, the patient had a dislocation of the hemiarthroplasty when squatting. The patient had preprosthesis fracture and loosening of the prosthesis during closed reduction. Eventually, the patient had an open reduction and femoral stem revision. There was no re-dislocation and no re-fracture at one-year follow-up.
Discussion:
Closed manoeuvre reduction is a common and effective method for dislocation of the hemiarthroplasty. But if not done properly, it may lead to preprosthesis fracture of femoral and loosening of the femoral prosthesis. Preprosthesis fracture of femoral and loosening of femoral prosthesis is a complex complication. This condition requires operative treatment. A personalized surgical plan and proper techniques should be done before the operation.
Conclusion:
Closed reduction should be performed gently to avoid preprosthesis fracture and loosening of the prosthesis. If this happens, a high-resolution CT examination should be performed immediately to evaluate the fracture and the rotation of the prosthesis. In the case of dislocation after bipolar hip hemiarthroplasty in patients with Alzheimer's disease, we hypothesize that early wearing braces to limit squat might help prevent this condition.
Emerging source of infection - Mycobacterium tuberculosis in rescue dogs: a case report
Authors: Silja Mentula, Veera Karkamo, Teresa Skrzypczak, Jaana Seppänen, Hanne-Leena Hyyryläinen, Marjo Haanperä, Hanna Soini
Journal: Access Microbiol (2020)
Keywords: mycobacterium tuberculosis, dogs, imported infections, pathologists, public health, veterinarians
MeSH terms: Case Reports

Rescue dog activity is a heavily increasing form of dog charity. Imported homeless dogs represent a reservoir of zoonotic diseases putting owners, veterinarians and pathologists repeatedly at risk. The clinical signs of tuberculosis in a dog are non-specific and diagnosis is often delayed or dismissed. We present a case of 9 months of possible exposure at home and definite exposure at laparotomy and autopsy to intestinal tuberculosis in a family dog imported from Romania to Finland. Persistent gastrointestinal symptoms started 2 years after the import. Abdominal pain, diarrhoea and vomiting proceeded and led to spontaneous death. Mycobacterium tuberculosis was identified in the liver, lymph nodes and intestine at autopsy. Exposed persons were notified and follow-up was provided, and no further infections were identified within 12 months of follow-up. The heavily increasing import of companion animals presents unexpected public health risks, such as prolonged exposure to tuberculosis, of which the general public is not aware. The dramatic consequences and high costs of tuberculosis could be reduced through accessible information of the risks of imported animals to both the general public and veterinarians, in addition to availability of rapid diagnostics and proper personal protection.
Case report: Intraoperative reversal of flow through an atrial septal defect presenting as hypoxemia during off-pump coronary artery bypass grafting
Authors: Yun Zhao, Chaorui Mi, Juan Xie, Hui Li
Journal: Front Cardiovasc Med (2023)
Keywords: atrial septal defect, end-tidal carbon dioxide partial pressure, hypoxemia, off-pump coronary artery bypass grafting, reversal of shunt flow
MeSH terms: Case Reports

The co-existence of atrial septal defect and coronary artery disease in a patient is rare in clinical practice. In the combined surgery of off-pump coronary artery bypass grafting and atrial septal defect closure, the unusual cardiac positions may affect the direction of blood shunting between the atriums, leading to more complex hemodynamic changes. Here, we report a case of a 67-year-old female who underwent refractory hypoxemia related to heart position in such a combined operation.
Two Cases of Subvesical Bile Duct Injury Detected and Repaired Simultaneously during Laparoscopic Cholecystectomy
Authors: Atsushi Kohga, Kenji Suzuki, Takuya Okumura, Kiyoshige Yajima, Kimihiro Yamashita, Jun Isogaki, Akihiro Kawabe
Journal: Case Rep Med (2019)
MeSH terms: Case Reports

Introduction:
Subvesical bile duct (SVBD) injury is a secondary major cause of minor bile duct injury after laparoscopic cholecystectomy (LC). However, this injury is usually not recognized intraoperatively, but postoperatively.
Case report:
Case 1: the patient was an 84-year-old female, preoperatively diagnosed with acute cholecystitis. During LC, a tiny hole in the gallbladder fossa from which bile juice oozing was confirmed. Suturing was performed laparoscopically. Case 2: the patient was an 81-year-old male, preoperatively diagnosed with cholelithiasis. Because of a previous history of gastrectomy, laparoscopic adhesiolysis around the gallbladder was performed. During dissection, a small amount of bile was oozing from the surface of the liver adjacent to the gallbladder fossa. Suturing was performed laparoscopically.
Conclusion:
If a small amount of bile juice was detected, meticulous observation not only around the cystic duct stump but also the gallbladder fossa should be performed. Simultaneous laparoscopic suturing was feasible, and an ideal procedure against SVBD injury developed during LC.
Mild Developmental Foreign Accent Syndrome and Psychiatric Comorbidity: Altered White Matter Integrity in Speech and Emotion Regulation Networks
Authors: Marcelo L Berthier, Núria Roé-Vellvé, Ignacio Moreno-Torres, Carles Falcon, Karl Thurnhofer-Hemsi, José Paredes-Pacheco, María J Torres-Prioris, Irene De-Torres, Francisco Alfaro, Antonio L Gutiérrez-Cardo, Miquel Baquero, Rafael Ruiz-Cruces, Guadalupe Dávila
Journal: Front Hum Neurosci (2016)
Keywords: developmental speech disorders, diffusion tensor imaging, foreign accent, personality, psychiatric disorders
MeSH terms: Case Reports

Foreign accent syndrome (FAS) is a speech disorder that is defined by the emergence of a peculiar manner of articulation and intonation which is perceived as foreign. In most cases of acquired FAS (AFAS) the new accent is secondary to small focal lesions involving components of the bilaterally distributed neural network for speech production. In the past few years FAS has also been described in different psychiatric conditions (conversion disorder, bipolar disorder, and schizophrenia) as well as in developmental disorders (specific language impairment, apraxia of speech). In the present study, two adult males, one with atypical phonetic production and the other one with cluttering, reported having developmental FAS (DFAS) since their adolescence. Perceptual analysis by naïve judges could not confirm the presence of foreign accent, possibly due to the mildness of the speech disorder. However, detailed linguistic analysis provided evidence of prosodic and segmental errors previously reported in AFAS cases. Cognitive testing showed reduced communication in activities of daily living and mild deficits related to psychiatric disorders. Psychiatric evaluation revealed long-lasting internalizing disorders (neuroticism, anxiety, obsessive-compulsive disorder, social phobia, depression, alexithymia, hopelessness, and apathy) in both subjects. Diffusion tensor imaging (DTI) data from each subject with DFAS were compared with data from a group of 21 age- and gender-matched healthy control subjects. Diffusion parameters (MD, AD, and RD) in predefined regions of interest showed changes of white matter microstructure in regions previously related with AFAS and psychiatric disorders. In conclusion, the present findings militate against the possibility that these two subjects have FAS of psychogenic origin. Rather, our findings provide evidence that mild DFAS occurring in the context of subtle, yet persistent, developmental speech disorders may be associated with structural brain anomalies. We suggest that the simultaneous involvement of speech and emotion regulation networks might result from disrupted neural organization during development, or compensatory or maladaptive plasticity. Future studies are required to examine whether the interplay between biological trait-like diathesis (shyness, neuroticism) and the stressful experience of living with mild DFAS lead to the development of internalizing psychiatric disorders.
Surgical Management of a Giant Adrenal Pseudocyst: A Case Report and Review of the Literature in the Last Decade
Authors: Daniel Paramythiotis, Petros Bangeas, Anestis Karakatsanis, Patroklos Goulas, Irini Nikolaou, Vasileios Rafailidis, Konstantinos Kouskouras, Vasileios Papadopoulos, Sofia Lypiridou, Georgia Karayannopoulou, Antonios Michalopoulos
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Adrenal pseudocysts are rare entities and occurred in the 5th and the 6th decades of life. They are discovered accidentally, while appearing with nonspecific clinical and imaging findings. We report a case of a 28-year-old woman presented in our Emergency Department complaining about upper abdomen pain. Computed tomography revealed a hypodense cystic lesion containing hyperdense material. The size of a mass was 11. 7 × 9.3 × 6.6 cm in diameter close to the pancreas, but the origin was from the left adrenal gland. The mass was excised with surgical laparotomy. Giant adrenal pseudocysts are rare entities. Final diagnosis usually confirmed with the pathology examination. Management of such adrenal lesions depends on the unique characteristics, the surgeon's experience, and local resources.
A Very Rare Complication of Hepatitis A Infection: Acute Myocarditis-A Case Report with Literature Review
Authors: Olivia Allen, Ahmed Edhi, Adam Hafeez, Alexandra Halalau
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

Hepatitis A is a common viral infection with a benign course but in rare cases can progress to acute liver failure. It usually presents with abdominal pain, nausea, vomiting, diarrhea, jaundice, anorexia, or asymptomatically, but it can also present atypically with relapsing hepatitis and prolonged cholestasis. In addition, extrahepatic manifestations have been reported, including urticarial and maculopapular rash, acute kidney injury, autoimmune hemolytic anemia, aplastic anemia, acute pancreatitis, mononeuritis, reactive arthritis, glomerulonephritis, cryoglobulinemia, Guillain-Barre syndrome, and pleural or pericardial effusion. A rare manifestation of hepatitis A is acute myocarditis. We report a case of a young woman who presented with "flu-like symptoms" and was found to have severe elevation of liver enzymes due to acute hepatitis A infection. On her 3rd day of admission, the patient developed chest pain and nonspecific electrocardiographic changes. Her troponins rose to 16.4 ng/mL, and a transthoracic echocardiogram revealed global hypokinesis and a depressed ejection fraction at 30%. A CT angiography showed no evidence of significant coronary artery disease. The patient was managed supportively, and symptoms and laboratory findings slowly improved over the next 7 days. Her chest pain resolved and a follow-up echocardiogram showed improved ejection fraction to 45%.
Pancreaticogastrostomy as reconstruction choice in pancreatic trauma surgery: Case report and review of the literature
Authors: Francesco Serra, Giuseppe Barbato, Giovanni Tazzioli, Roberta Gelmini
Journal: Int J Surg Case Rep (2019)
Keywords: pancreatic trauma management, parenchymal sparing pancreatic surgery

Introduction:
Due to its retroperitoneal location and its proximity to major vascular structures and other organs, isolated pancreatic injuries are rare. The optimal management for pancreatic injuries of grades III and IV, where a main ductal transection is present, remains controversial. Isolated complete traumatic transection of the pancreatic neck is uncommon, but this condition is associated with some peculiar technical aspects that allow more conservative treatments.
Presentation of the case:
A closed abdominal blunt trauma in a young patient underwent emergency surgery for suspect hemoperitoneum. Intraoperatively evidence of complete traumatic transection of the pancreatic neck treated with pancreas tissue debridement, suture of the cephalic stump and pancreaticogastrostomy reconstruction.
Discussion:
Preservation of pancreatic volume and avoidance of adjacent organ resection is associated with lesser mortality and morbidity rate. The advantages of conservative treatments are related to reductions in the postoperative exocrine and endocrine insufficiencies.
Conclusion:
In selected cases of complete neck transection with preserved pancreatic parenchyma in a stable patient, parenchymal-sparing interventions should be considered. Pancreaticogastrostomy offers an easier to learn and faster technique also suited for less experienced surgeons.