OpenMed/multicare-articles huggingface dataset:
Use of Argon Plasma Coagulation and Endoscopic Hemoclips for Postsurgical Gastrointestinal Fistula
Authors: Abdullah Sohail, Ahmad Khan, Hamza Shah, Ragheb Rezko
Journal: Case Rep Gastrointest Med (2020)
MeSH terms: Case Reports

A 72-year-old male was diagnosed with a duodenal mass and underwent extensive surgical resection. The patient's post-op course was complicated by an anastomotic leak that was first treated conservatively; however, his condition continued to deteriorate. An upper endoscopy was performed, which showed misplacement of drain forming a fistulous track through the lumen of the bowel. We removed the drain and used argon plasma coagulation to de-epithelize the lumen and closed the fistula with hemostasis clips. The patient's clinical status improved significantly. Our case emphasizes the success of endoscopic techniques as an alternative option in the management of postsurgical anastomotic leaks and fistulas in the right clinical setting and patient population.
Intestinal Obstruction Caused by Ileocolic and Colocolic Intussusception in an Adult Patient with Cecal Lipoma
Authors: Tiziana Casiraghi, Alessandro Masetto, Massimo Beltramo, Mauro Girlando, Camillo Di Bella
Journal: Case Rep Surg (2016)

Introduction. Intussusception is a rare clinical entity in adults (<1% of intestinal obstructions). Colonic intussusception is even rarer, particularly when caused by lipomas. Case Presentation. A 47-year-old woman presented to our emergency department complaining of abdominal pain with vomiting and diarrhoea. X-ray and CT showed bowel obstruction due to ileocolonic and colocolonic intussusception; a giant colonic lipoma (9 × 4 × 4 cm) was recognizable immediately distally to the splenic flexure of the colon. The patient underwent emergency laparotomy and right hemicolectomy. Assessment of the resected specimen confirmed the diagnosis of giant colonic polypoid lesion near to the ileocecal valve, causing a 12 cm long intussusception with moderate ischemic damage. Conclusion. Colonic obstruction due to intussusception caused by lipomas is a very rare condition that needs urgent treatment. CT is the radiologic modality of choice for diagnosis (sensitivity 80%, specificity near 100%); since the majority of colonic intussusceptions are caused by primary adenocarcinoma, if the etiology is uncertain, the lesion must be interpreted as malignant and extensive resection is recommended. At present, surgery is the treatment of choice and determines an excellent outcome.
Surgical Management of a Volvulus of a Wandering Spleen Associated with a Volvulus of the Small Intestine
Authors: Elisa Maienza, Nathalie Chereau, Fabrice Menegaux
Journal: Case Rep Surg (2022)
MeSH terms: Case Reports

Introduction:
A wandering spleen is a rare anatomical condition characterized by a free-floating splenic tissue that is not located in its normal position in the left upper quadrant. This condition is usually asymptomatic but can also manifest itself with volvulus of the spleen and consequent infarction and necrosis of the parenchyma, requiring an urgent surgical management. Additionally, a wandering spleen can be associated with other contemporaneous anatomical anomalies. Case Presentation. We report a case of a 21-year-old woman, admitted to our hospital for intense abdominal pain and vomiting. A CT scan revealed a wandering spleen in the mesogastric area with the spleen torted on its axis, associated with a volvulus of the small intestine. Abdominal exploration revealed a macroscopically normal free-floating spleen attached to an abnormally long vascular pedicle. The management of the wandering spleen was conservative, and a splenopexy was performed.
Conclusions:
The torsion of the wandering spleen constitutes an infrequent but life-threatening abdominal emergency. The diagnosis of the wandering spleen is frequently challenging since clinical findings are usually not specific. Imaging such as computed tomography scan plays an important role in the differential diagnosis pathway. Treatment should be planned according to the splenic parenchyma conditions. Splenectomy is indicated when massive infarction and thrombosis of splenic vessels have occurred. When splenic parenchyma is not compromised, it is preferred to perform a conservative surgical technique, such as splenopexy, in order to avoid postsplenectomy complications.
Partial Pulpotomy with Mineral Trioxide Aggregate in Permanent Incisors with Complicated Crown Fracture: 5-Year Follow-Up
Authors: Isabel Gomes
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

Traumatic dental injuries are highly prevalent among children. This article describes a case report of a patient who has experienced dental trauma at 8 years old, which has led to enamel-dentine fracture with pulp exposure in the left central incisor and crown-root fracture with pulp exposure in the right central incisor. Partial pulpotomy was performed with the aim of maintaining the neurovascular bundle, thus allowing normal radicular formation. During follow-up 5 years later, teeth were asymptomatic and with no evidence of radiolucent lesions in radiographic examinations. This report demonstrates that traumatic fractures with pulp exposure can be treated effectively by the described technique.
A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family
Authors: Tiecheng Liu, Xin Jin, Xuemin Zhang, Huijun Yuan, Jing Cheng, Janet Lee, Baoquan Zhang, Maonian Zhang, Jing Wu, Lijuan Wang, Geng Tian, Weifeng Wang
Journal: PLoS One (2012)
MeSH terms: Asian People / genetics, Genes, Dominant, Mutation, Missense, Retinitis Pigmentosa / genetics, Ribonucleoproteins, Small Nuclear / genetics, Case Reports, Adult, Aged, Aged, 80 and over, Amino Acid Sequence, Amino Acid Substitution, Base Sequence, China, Exons, Family, Female, Humans, Male, Middle Aged, Models, Molecular, Molecular Sequence Data, Ophthalmoscopes, Pedigree, Protein Conformation, Ribonucleoproteins, Small Nuclear / chemistry, Sequence Alignment, Young Adult, Ribonucleoproteins, Small Nuclear, SNRNP200 protein, human

The SNRNP200 gene encodes hBrr2, a helicase essential for pre-mRNA splicing. Six mutations in SNRNP200 have recently been discovered to be associated with autosomal dominant retinitis pigmentosa (adRP). In this work, we analyzed a Chinese family with adRP and identified a novel missense mutation in SNRNP200. To identify the genetic defect in this family, exome of the proband was captured and sequencing analysis was performed to exclude known genetic defects and find possible pathogenic mutations. Subsequently, candidate mutations were validated in affected family members using Sanger sequencing. A novel missense mutation, c.2653C>G transition (p.Q885E), in exon 20 of SNRNP200 was identified. The mutation co-segregated with the disease phenotype over four generations and was absent in 100 normal unaffected individuals. This mutation occurs at highly conserved position in hBrr2 and is predicted to have a functional impact, suggesting that hBrr2-dependent small nuclear riboproteins (snRNPs) unwinding and spliceosome activation is important in the pathogenesis of some variants of RP.
Torsion of a Communicating Hydrocele Presented as Acute Scrotum: A Case Report and Literature Review
Authors: Ivonete Siviero, Ivens Baker Méio, Saulo Marcos Rebello Ferrante, Danielle Nunes Forny, André Lima da Cunha
Journal: Case Rep Pediatr (2016)

Torsion of a communicating hydrocele is extremely rare, and the cause is unclear. We report the case of a 3-year-old boy referred to us with acute scrotum. Operative findings revealed torsion of a communicating hydrocele with a 360-degree rotation of the distal end. We performed surgical excision of the necrotic cystic mass and high ligation of the peritoneal communication. A high index of suspicion is required for the correct diagnosis and treatment of this condition, which should be included among the causes of acute scrotum in childhood.
Medium-chain Acyl-CoA dehydrogenase deficiency presenting with neonatal pulmonary haemorrhage
Authors: Willem Staels, James D'Haese, Els Sercu, Linda De Meirleir, Johan Colpaert, Luc Cornette
Journal: Matern Health Neonatol Perinatol (2015)
Keywords: medium-chain acyl-coa dehydrogenase deficiency (#mim 201450), pulmonary haemorrhage
MeSH terms: Case Reports

Background:
Medium-chain Acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited disorder of fatty acid beta-oxidation. Signs and symptoms of MCADD typically appear during infancy or early childhood and include vomiting, lethargy, and hypoglycemia. Pulmonary haemorrhage has previously been described in patients with MCADD, but has always been considered a pre-terminal complication caused by heart failure.
Case presentation:
We report on a newborn term infant that presented on the second day of life with signs of encephalopathy, followed by hypovolemia and respiratory distress caused by a severe pulmonary haemorrhage. Fluid resuscitation and mechanical ventilation were initiated and the coagulopathy was corrected by the administration of fresh frozen plasma. Echocardiography revealed a normal cardiac function. After 6 days of full intensive care, the patient survived without sequellae. The clinical presentation in absence of signs of infection raised a strong suspicion for a metabolic disorder and genetic testing revealed MCADD due to a homozygous A985G mutation.
Conclusion:
The key towards successful management of severe pulmonary haemorrhage in newborns with a coagulopathy and suspicion of an underlying metabolic disorder consists of adequate mechanical ventilation and aggressive use of fresh frozen plasma, while treating the metabolic decompensation and initiating an early diagnostic work-up. MCADD can lead to acute decompensation and present with complications such as pulmonary haemorrhage independent of cardiac function. Hence, in the context of MCADD, pulmonary haemorrhage should not be considered a pre-terminal complication caused by heart failure, and rather than withdrawing care, intensive treatment must be initiated.
Acute Lymphoblastic Leukemia in Combined Methylmalonic Acidemia and Homocysteinemia (cblC Type): A Case Report and Literature Review
Authors: Jun Zhu, Shuisen Wan, Xueqi Zhao, Binlu Zhu, Yuan Lv, Hongkun Jiang
Journal: Front Genet (2022)
Keywords: acute lymphoblastic leukemia, congenital heart diseases, genetic analysis, homocysteinemia, methylmalonic acidemia
MeSH terms: Case Reports

Background: Methylmalonic acidemia (MMA) can display many clinical manifestations, among which acute lymphoblastic leukemia (ALL) has not been reported, and congenital heart disease (CHD) is also rare. Case presentation: We report an MMA case with ALL and CHD in a 5.5-year-old girl. With developmental delay and local brain atrophy in MRI, she was diagnosed with cerebral palsy at 9 months old. Rehabilitation was performed since then. This time she was admitted to hospital because of weakness and widespread bleeding spots. ALL-L2 (pre-B-cell) was confirmed by bone marrow morphology and immunophenotyping. Echocardiography showed patent foramen ovale. The girl was treated with VDLD and CAML chemotherapy, during which she developed seizures, edema and renal insufficiency. Decrease of muscle strength was also found in physical examination. Screening for inherited metabolic disorders showed significantly elevated levels of methylmalonate-2, acetylcarnitine (C2), propionylcarnitine (C3), C3/C2 and homocysteine. Gene analysis revealed a compound heterozygous mutaion in MMACHC (NM_015,560): c.80A > G (p.Gln27Arg) and c.609G > A (p.Trp203*). CblC type MMA was diagnosed. Intramuscular injection of cyanocobalamin and intravenous L-carnitine treatment were applied. The edema vanished gradually, and chemotherapy of small dosage of vindesine was given intermittently when condition permitted. 2 months later, muscle strength of both lower limbs were significantly improved to nearly grade 5. The levels of methylmalonic acid and homocysteine were improved. Conclusion: Metabolic disease screening and gene analysis are very necessary for diseases with complex clinical symptoms. ALL can be a rare manifestation for MMA. Synopsis: We report a case of methylmalonic acidemia with acute lymphoblastic leukemia and congenital heart disease, which uncovered the importance of genetic testing and metabolic diseases screening in patients with multiple systemic organ involvement.
Empyema caused by Fusobacterium nucleatum with squamous cell carcinoma of the lung: a case report and literature review
Authors: Yue Sun, Han Dong, Na Zhang, Peng Zhao, Yuan Qi, Xin Yang, Lingling Wang
Journal: Front Med (Lausanne) (2023)
Keywords: fusobacterium nucleatum, empyema, lung cancer, next-generation sequencing, squamous cell carcinoma
MeSH terms: Case Reports

Background:

Fusobacterium nucleatum is a common oral symbiotic flora that can cause respiratory tract, oral nervous system, obstetric and skin infections. Fusobacterium nucleatum infections are mostly caused by aspiration. The clinical manifestations of pulmonary infections with Fusobacterium nucleatum can include simple pneumonia, lung abscesses, empyema, etc.
Case presentation:
We described the case of a 49-year-old man with a 1-year history of intermittent cough and sputum production who had worsened over the last 4 days with fever and right chest pain. After thoracentesis and catheter drainage were performed, Fusobacterium nucleatum was detected in the pleural effusion by using next-generation sequencing. Meanwhile, a diagnosis of squamous cell carcinoma of the right lung was made by fiberoptic bronchoscopy. The patient's condition improved significantly after percutaneous drainage and long-term intravenous antibiotic treatment.
Conclusions:
This is the first case reported of empyema due to Fusobacterium nucleatum infection in a patient with squamous cell carcinoma.
Piezoelectric-Assisted Removal of a Mandibular Cementoossifying Fibroma: An Innovative Technique
Authors: Adel Bouguezzi, Hajer Hentati, Abdellatif Chokri, Sameh Sioud, Jamil Selmi
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

Diagnosis of cementoossifying fibroma is oriented by the clinical and radiological aspects of the lesion. Histology confirms the diagnosis. Treatment is surgical with enucleation-resection depending on the lesion size or wider resection with bone reconstruction in cases of large fibromas. The use of piezoelectric bone surgery is associated with low surgical trauma, exceptional precision, and fast healing response. It also allows easy performance of complex osteotomy and reduces the necessary dimensions of mucoperiosteal dissection. The purpose of the present article was to present the advantages of piezoelectric-assisted surgical removal of a cementoosseous fibroma of the mandible and to provide a precise description of the procedure using atraumatic surgery.
Immune-Therapy-Related Toxicity Events and Dramatic Remission After a Single Dose of Pembrolizumab Treatment in Metastatic Thymoma: A Case Report
Authors: Li Shen, Haiyan Chen, Qichun Wei
Journal: Front Immunol (2021)
Keywords: case report, immune-therapy–related toxicity events, immunotherapy, pembrolizumab, thymoma
MeSH terms: Antibodies, Monoclonal, Humanized / therapeutic use, Drug-Related Side Effects and Adverse Reactions / diagnosis, Hypothyroidism / diagnosis, Immune Checkpoint Inhibitors / therapeutic use, Myocarditis / diagnosis, Thymoma / drug therapy, Thymus Neoplasms / drug therapy, Case Reports, Research Support, Non-U.S. Gov't, Antibodies, Monoclonal, Humanized / adverse effects, Drug Tapering, Female, Humans, Hypothyroidism / etiology, Immune Checkpoint Inhibitors / adverse effects, Middle Aged, Myocarditis / etiology, Neoplasm Metastasis, Programmed Cell Death 1 Receptor / antagonists & inhibitors, Recovery of Function, Remission Induction, Thymoma / complications, Thymus Neoplasms / complications, Antibodies, Monoclonal, Humanized, Immune Checkpoint Inhibitors, Programmed Cell Death 1 Receptor, pembrolizumab

Immune checkpoint inhibitor therapy has become a promising option for the treatment of late-stage thymic epithelial tumors. In this manuscript, we presented a patient with metastatic thymoma administrated of anti-programmed cell death protein 1 (PD-1) antibody pembrolizumab. Although the patient underwent a rapid and dramatic response to one dose of pembrolizumab, she suffered a storm of immune-therapy related toxicity events (irAEs), including liver and kidney dysfunction, hypothyroidism and myocarditis. We didn't observe >grade 3 irAEs, and proceed with pembrolizumab therapy after the function recovered. Although no guidelines recommend dose reduction of immunotherapy re-treating following initial irAEs, we optimize dose of pembrolizumab to minimize the irAEs induced by PD-1 antibody while maintaining clinical effectiveness. Excitingly, we observe remarkable tumor remission and mild toxicities of half dose of pembrolizumab in this case. In conclusion, the clinical utilization of immunotherapy is an encouraging therapeutic alternative for advanced thymomas. At the same time, patients have to be monitored very carefully, because of the risk to develop irAEs.
An unusual case of a tonsillolith
Authors: John Chan, Mamun Rashid, Yakubu Karagama
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Tonsilloliths are rare calcified concretions that develop in tonsillar crypts within the substance of the tonsil or around it. Large tonsilloliths can mimic many conditions including abscesses or neoplasms. Given the wide range of differentials, it is difficult to diagnose tonsilloliths unless there is a considered emphasis on thorough history taking, careful inspection and a detailed characterisation of the lesion through digital palpation. This may be further supplemented with investigations such as plain radiography and computer tomography. Here, we illustrate a case with risk factors of oropharyngeal cancer and a history of fish bone impaction in the throat that was initially diagnosed as a "tonsillar foreign body" which turned out eventually to be a large tonsillolith.
Tuberculosis of the Thyroid in a Child: A Rare cause of Thyromegaly
Authors: Sugandha Sharma, Manish Girhotra, Naushad Zafar, Ruchika Gupta
Journal: APSP J Case Rep (2016)
Keywords: aspiration cytology, pediatric, thyroid, tuberculosis
MeSH terms: Case Reports

Tuberculosis of thyroid gland is extremely rare in children. We describe the case of a 6-year girl child, presenting with a multinodular thyroid swelling. Fine needle aspiration cytology showed extensive necrosis with few epithelioid cell granulomas and occasional acid-fast bacilli, suggesting a diagnosis of tuberculosis. The child was put on anti-tuberculous drugs with significant improvement. Tuberculosis of the thyroid gland, although rare, should be considered in differential diagnosis of thyroid swelling, especially in endemic areas.
EHR2Vec: Representation Learning of Medical Concepts From Temporal Patterns of Clinical Notes Based on Self-Attention Mechanism
Authors: Li Wang, Qinghua Wang, Heming Bai, Cong Liu, Wei Liu, Yuanpeng Zhang, Lei Jiang, Huji Xu, Kai Wang, Yunyun Zhou
Journal: Front Genet (2020)
Keywords: electronic health record, natural language processing, representation learning, unstructured clinical notes, word vector

Efficiently learning representations of clinical concepts (i. e., symptoms, lab test, etc.) from unstructured clinical notes of electronic health record (EHR) data remain significant challenges, since each patient may have multiple visits at different times and each visit may contain different sequential concepts. Therefore, learning distributed representations from temporal patterns of clinical notes is an essential step for downstream applications on EHR data. However, existing methods for EHR representation learning can not adequately capture either contextual information per-visit or temporal information at multiple visits. In this study, we developed a new vector embedding method called EHR2Vec that can learn semantically-meaningful representations of clinical concepts. EHR2Vec incorporated the self-attention structure and showed its utility in accurately identifying relevant clinical concept entities considering time sequence information from multiple visits. Using EHR data from systemic lupus erythematosus (SLE) patients as a case study, we showed EHR2Vec outperforms in identifying interpretable representations compared to other well-known methods including Word2Vec and Med2Vec, according to clinical experts' evaluations.
Soft Tissue Schwannomas of the Hard Palate and the Mandibular Mentum
Authors: Cennet Neslihan Eroglu, Serap Keskin Tunc, Omer Gunhan
Journal: Case Rep Dent (2017)
MeSH terms: Case Reports

Schwannomas are benign, slow growing, encapsulated tumours that originate from the Schwann cells. Intraoral schwannomas are rare, and most of these tumours involve the tongue. They are rarely located in the hard palate or in the facial soft tissue. Herein, we present the clinical and histological features as well as the prognoses of two male patients with schwannoma, one of which was localized to the hard palate and the other to the facial soft tissue around the mandibular mentum and caused swelling.
A Case of Brainstem Anesthesia after Retrobulbar Block for Globe Rupture Repair
Authors: Tavish Nanda, Lisa Ross, Gregory Kerr
Journal: Case Rep Anesthesiol (2021)
MeSH terms: Case Reports

Purpose:
To present a rare case of brainstem anesthesia from retrobulbar block and discuss evidence-based methods for reducing the incidence of this complication.
Case:
A 72-year-old female, was given a retrobulbar block of 5 mL of bupivacaine 0.5% for postoperative pain management, after a globe rupture repair under general anesthesia. Prior to injection, the patient was breathing spontaneously via the anesthesia machine circuit and had not received any additional narcotics/muscle relaxants for 2.5 hr (with full recovery of neuromuscular blocking agent after anesthetic reversal). Over 7 min, however, there was a steady increase in ETCO2 and the patient became apneic, consistent with brainstem anesthesia. She remained intubated and was transported to the postanesthesia care unit for prolonged monitoring, with eventual extubation. Discussion. Brainstem anesthesia is an important complication to recognize as it can lead to apnea and death. The judicious use of anesthetic volume, shorter needle tips, and mixed formulations can help reduce the chance of brainstem anesthesia. Observation of the contralateral eye 5-10 minutes after injection for pupillary dilation, and prior to surgical draping, can help identify early CNS involvement.