OpenMed/multicare-articles huggingface dataset:
Cholesteatoma of external auditory canal: a case report
Authors: Fábio D Zanini, Everton S Ameno, Sidney O Magaldi, Ruben A Lamar
Journal: Braz J Otorhinolaryngol (2005)
MeSH terms: Cholesteatoma / pathology, Ear Canal / pathology, Ear Diseases / pathology, Case Reports, Cholesteatoma / surgery, Diagnosis, Differential, Ear Canal / surgery, Ear Diseases / surgery, Humans, Male, Mastoid / pathology, Mastoid / surgery, Middle Aged, Tomography, X-Ray Computed

The authors present a case of cholesteatoma of external auditory canal (CEAC) with extensive invasion of mastoid; ossicle chain and tympanic membrane remained intact. The only symptom was chronic otorrhea. Diagnosis was based on clinical elements and CT scan was used to measure pathology and program surgery. Treatment was modified radical mastoidectomy associated with meatoplasty. Due to the insidious character of CEAC and the proximity with important structures of the external auditory canal, it must be always considered in differential diagnosis for lesions of external auditory canal. This case report intended to review clinical and surgical aspects of treatment of CEAC and present our approach in a case with severe lesions.
Human Complement C4B Allotypes and Deficiencies in Selected Cases With Autoimmune Diseases
Authors: Danlei Zhou, Michael Rudnicki, Gilbert T Chua, Simon K Lawrance, Bi Zhou, Joanne L Drew, Fatima Barbar-Smiley, Taylor K Armstrong, Miranda E Hilt, Daniel J Birmingham, Werner Passler, Jeffrey J Auletta, Sasigarn A Bowden, Robert P Hoffman, Yee Ling Wu, Wael N Jarjour, Chi Chiu Mok, Stacy P Ardoin, Yu Lung Lau, Chack Yung Yu
Journal: Front Immunol (2021)
Keywords: anti-nmda receptor encephalitis, c4b mutations, rccx modules, complement c4 polymorphism, gene copy number variation, race-specific variations, systemic lupus erythematosus, type 1 diabetes
MeSH terms: Autoimmune Diseases / genetics, Complement C4b / genetics, DNA Copy Number Variations, Gene Dosage, Immunity, Humoral / genetics, Mutation, Research Support, N.I.H., Extramural, Autoimmune Diseases / diagnosis, Autoimmune Diseases / ethnology, Autoimmune Diseases / immunology, Case-Control Studies, Complement C4a / deficiency, Complement C4a / genetics, Complement C4a / immunology, Complement C4b / deficiency, Complement C4b / immunology, Female, Gene Frequency, Genetic Predisposition to Disease, Humans, Male, Phenotype, Complement C4a, Complement C4b

Human complement C4 is one of the most diverse but heritable effectors for humoral immunity. To help understand the roles of C4 in the defense and pathogenesis of autoimmune and inflammatory diseases, we determined the bases of polymorphisms including the frequent genetic deficiency of C4A and/or C4B isotypes. We demonstrated the diversities of C4A and C4B proteins and their gene copy number variations (CNVs) in healthy subjects and patients with autoimmune disease, such as type 1 diabetes, systemic lupus erythematosus (SLE) and encephalitis. We identified subjects with (a) the fastest migrating C4B allotype, B7, or (b) a deficiency of C4B protein caused by genetic mutation in addition to gene copy-number variation. Those variants and mutants were characterized, sequenced and specific techniques for detection developed. Novel findings were made in four case series. First, the amino acid sequence determinant for C4B7 was likely the R729Q variation at the anaphylatoxin-like region. Second, in healthy White subject MS630, a C-nucleotide deletion at codon-755 led to frameshift mutations in his single C4B gene, which was a private mutation. Third, in European family E94 with multiplex lupus-related mortality and low serum C4 levels, the culprit was a recurrent haplotype with HLA-A30, B18 and DR7 that segregated with two defective C4B genes and identical mutations at the donor splice site of intron-28. Fourth, in East-Asian subject E133P with anti-NMDA receptor encephalitis, the C4B gene had a mutation that changed tryptophan-660 to a stop-codon (W660x), which was present in a haplotype with HLA-DRB1*04:06 and B*15:27. The W660x mutation is recurrent among East-Asians with a frequency of 1.5% but not detectable among patients with SLE. A meticulous annotation of C4 sequences revealed clusters of variations proximal to sites for protein processing, activation and inactivation, and binding of interacting molecules.
Laparoscopic Resection of Advanced Colorectal Cancer in a Patient with Lumboperitoneal Shunt
Authors: Toru Imagami, Satoru Takayama, Yohei Maeda, Ryohei Matsui, Masaki Sakamoto, Hisanori Kani
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

A 78-year-old woman with lumboperitoneal (LP) shunt was diagnosed with advanced cancer of the ascending colon. Laparoscopic right hemicolectomy was performed without manipulating the catheter. The patient's postoperative course was uneventful, with no shunt-related complications or neurological deficit. The number of patients with cerebrospinal fluid (CSF) shunt who require abdominal surgery has been increasing. There are only few studies on laparoscopic surgery for patients with LP shunt, and the safety of pneumoperitoneum in the CSF shunt remains controversial. Consistent with other studies, we considered that pneumoperitoneum with a pressure of 10 mmHg has few negative effects. Our recommendations are as follows: (1) during colorectal resection, laparoscopic surgery can be performed without routine manipulation of the shunt catheter; (2) altering the location of the port is necessary to prevent both damage to the shunt tube during surgery and wound infection postoperatively; and (3) laparoscopic surgery is superior to laparotomy because it is associated with reduced surgical site infections and postoperative adhesions. However, laparoscopy should be performed at least 3 months after the construction of CSF shunt.
Case Report: Pseudoprogression With Nivolumab and Bevacizumab Followed by Recurrent Immune-Related Pneumonitis in Urothelial Carcinoma With Lung Metastasis
Authors: Zizhong Yang, Guoqing Zhang, Qiong Sun, Minglu Liu, Jiakang Shao, Shunchang Jiao
Journal: Front Oncol (2021)
Keywords: anti-angiogenesis, case report, immune checkpoint inhibitor, immune-related pneumonitis, pseudoprogression, urothelial carcinoma
MeSH terms: Case Reports

Background:
Combination therapy with immune checkpoint inhibitors (ICIs) and antiangiogenic agents is generally effective and well tolerated and might be effective for metastatic urothelial carcinoma (UC). However, ICI treatment is often associated with unique responses, such as pseudoprogression and ICI-related pneumonitis (CIP), which may influence clinical decision making and affect treatment. Although there have been many studies on the mechanism of pseudoprogression and CIP, the characteristics and relationship of these special events in a clinical setting remain rarely reported.
Case presentation:
Here, we present a patient with lung metastatic UC who underwent surgery and two lines of chemotherapy. The programmed cell death-1 (PD-1) inhibitor nivolumab and antiangiogenics agent bevacizumab were used as maintenance treatments. The patient experienced pseudoprogression after 2 PD-1 inhibitor cycles. The lesions in both lungs were enlarged on computed tomography (CT) imaging, and treatments were continued for another two cycles, after which the tumor size decreased to below baseline, followed by a durable response. However, after 4 months of pseudoprogression, the patient then developed CIP. The CIP was responsive to glucocorticoid therapy but recurred during ICI rechallenge, leading to the termination of immune therapy. Ultimately, the patient achieved durable, stable disease for over 18 months without further anticancer treatment.
Conclusions:
Our case shows that pseudoprogression can occur in UC during immunotherapy even when combined with an effective antiangiogenic agent. In addition, pseudoprogression may be correlated with future adverse effects and a durable response. In the management of CIP, early rechallenge with ICIs may lead to CIP recurrence, which could be more severe and needs to be treated early and with appropriate drugs. Clinicians should be aware of atypical responses to ICIs and adjust the treatment plan accordingly.
A rare case of a chest wall abscess caused by a migrating oesophageal stent. An iatrogenic gastrocutaneous fistula
Authors: Ravindran Karthigan, Matthew Townsend, Nathan Chan, Husein Kaderbhai, Yasmin Tabbakh, Antonio Leyte Golpe, Branavan Rudran, Christopher Hadjittofi, Sameer Zar, Dimitrios Pissas, Kashif Burney
Journal: BJR Case Rep (2017)
MeSH terms: Case Reports

We report the case of a 65-year-old male, who presented with septicaemia and a chest wall mass on a background of oesophageal carcinoma. This chest wall mass measured 10 cm by 10 cm, was fluctuant, and was situated on the anterior chest wall. Owing to local erythema and surgical emphysema, necrotising fasciitis was suspected and thus intravenous antibiotic and fluid therapy were instituted. Following a chest radiograph, which confirmed the presence of subcutaneous gas, the patient underwent thoraco-abdomino-pelvic CT, which demonstrated oesophageal stent migration through the gastric fundus to the chest wall, between the 10th and 11th left ribs. Through this migration tract, the chest wall was contaminated with gastric contents, accounting for the mass and sepsis. The patient underwent endoscopic stent removal, and incision and drainage to create a gastrocutaneous fistula. Additionally, a nasojejunal tube and intravenous line were sited for jejunal and total parenteral nutrition, respectively, in order to promote healing of the fistula.
Schizophrenia treatment with a combination of two LAI antipsychotics: A case report
Authors: Marcin Jarosz, Karina Badura-Brzoza
Journal: Front Psychiatry (2022)
Keywords: antipsychotics, long-acting injectable, non-compliance, polytherapy, treatment, treatment-resistant schizophrenia
MeSH terms: Case Reports

Preventing the relapse of a psychotic episode is a challenge for the treatment of schizophrenia. Patients with schizophrenia suffer from a few to a dozen relapses in their lifetime. The use of long-acting injectable (LAI) antipsychotics in the treatment of schizophrenia is associated with less frequent recurrences of psychotic symptoms, better compliance, and better quality of life. The aim of the report is to present the findings of the successful management of treatment-resistant schizophrenia in a patient with persistent non-compliance using a combination of typical and atypical LAI antipsychotics. Since there was a history of non-adherence (irregular controls in outpatient clinics) by the patient, clozapine was not considered a therapeutic option. At the start of the treatment, olanzapine LAI was administered to the patient at a dosage of 300 mg fortnightly because of the good response and tolerance reported in the previous treatment. The treatment was continued for several weeks, and because of the persistence of constant delusions, labile affect, and aggressive behavioral tendencies, a second antipsychotic, zuclopenthyxole, was added, which was initially administered orally. After 4 weeks of combined treatment, the patient's mental state improved. There was no report of delusions, and his mood was much more stable. Zuclopenthyxole was switched to the LAI antipsychotic form due to the patient's history of persistent non-compliance, lack of insight into the disease, and the risk of aggressiveness toward others. Then, 200 mg of zuclopenthyxole decanoate was administered fortnightly. The patient was discharged from the hospital without any symptoms of delusions or hallucinations. The patient's clinical state presented negative symptoms, of which avolition and diminished social activity were dominant. The patient tolerated the treatment well, and sedation and extrapyramidal symptoms were not observed. The patient continued the injections alternately (one injection per week) to obtain regular visits to the outpatient clinic.
A Noval Method for Surgical Removal of the Impacted Mandibular Third Molar: Sartawi Technique
Authors: Hassan Sartawi
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

Background:
The goal of this article is to present and evaluate the clinical effectiveness of a new surgical approach using a triangular flap with slight modification and a 3-0 black braided silk surgical suture as flap retractor which is later used after the surgical procedure as a normal suture, aiming to decrease procedure time, soft tissue retraction, and tools for removal of impacted mandibular third molar.
Methods:
Patients requiring removal of fully impacted or semi-impacted lower third molars are treated with a new approach using minimal steps and tools, a simple triangular flap, slight mucoperiosteum elevation, as the flap sides are secured and reflected with a silk suture by an assistant holding both sides of the suture from behind the patient.
Results:
The surgical area at the procedure was efficiently exposed, and the separation of the crown from the roots was easily done using a surgical handpiece, separation and removal of the crown, removal of the roots with a straight elevator, without the need of flap retractor or overexposure of the surgical side with a conventional triangular flap or others. After the treatment, the two sides of suture are tied together with double overhand knots, and the surgical site was fully repositioned and closed without any complications. 5- and 7-day follow-up was done on the patients, and no complications were reported.
Conclusions:
This preliminary study presents a new surgical approach (Sartawi technique) which can be used during extraction of impacted and semi-impacted lower third molars, the results showed that the operation time was noticeably reduced, the size of exposed mucoperiosteum tissue was minimized compared to the conventional method, the use of the mucoperiosteum elevator was eliminated, and number of suture knots and suture used to close the surgical site reduced to a single stitch.
Yersinia pseudotuberculosis enterocolitis mimicking enteropathic γδ T-cell lymphoma with abnormal clonality
Authors: Osamu Imataki, Makiko Uemura, Kensuke Matsumoto, Naoko Ishibashi
Journal: BMC Infect Dis (2014)
MeSH terms: Enterocolitis / diagnosis, Enteropathy-Associated T-Cell Lymphoma / diagnosis, Yersinia Infections / diagnosis, Yersinia pseudotuberculosis / isolation & purification, Case Reports, Aged, Colon / pathology, Colonoscopy, Diagnosis, Differential, Enterocolitis / microbiology, Enterocolitis / pathology, Female, Humans, Intestinal Mucosa / pathology, Lymph Nodes / pathology, Lymphoma, Lymphoma, T-Cell, T-Lymphocytes, Yersinia Infections / microbiology, Yersinia Infections / pathology

Background:
Yersinia pseudotuberculosis generally infects the gastrointestinal tract and causes enteropathy symptoms suggesting infection. Y. pseudotuberculosis infections are often complicated with intraceliac lymphoadenopathy mimicking malignant lymphoma. This is a first case of Yersinia pseudotuberculosis enteropathy mimicking enteropathic γδ T-cell lymphoma. This case highlighted the γδ T-cell reaction to Yersinia enterocolitis sometimes mimicking malignant lymphoma clinically.
Case presentation:
A 72-year-old female was referred to our institute due to abdominal pain with skin rush, fever and diarrhea. Computed tomography (CT) scanning revealed mucosal swelling of the cecum with enlargement of regional lymph nodes. Laboratory data showed elevated CRP (7.74 mg/dL), an increased level of soluble interleukin-2 receptor (sIL-2R 3095 IU/mL), and CD3+ γδ T-cell circulation in peripheral blood and bone marrow (10.9% and 3.9%, respectively). Increased proportions of γδ T-cells supported the diagnosis of malignant lymphoma. Colonoscopy demonstrated hemorrhagic mucosal erosion with partial ulceration, and the subsequent pathological findings at the inflammation site suggested malignant lymphoma histopathology in the colon. These objective findings were entirely consistent with enteropathic γδ T-cell lymphoma. Thereafter, however, the microbiological results of the patient's stool at admission showed Yersinia pseudotuberculosis, and she was diagnosed as having Yersinia enterocolitis. All abnormal findings including subjective symptoms were in remission or mitigated within 2 weeks after her onset. Even the γδ T-cell circulation disappeared (0.04% in peripheral blood), and we speculate that those cells were a reaction to the Yersinia infection.
Conclusion:
In this case, a differential diagnosis included infectious enterocolitis from other immunogenic or malignant diseases. Although a measurement of sIL-2R is critical in differentiating malignant lymphoma in patients suffering with lymph adenopathy, that is not confirmative. This patient's case indicates that T cells expressing the γδ T-cell receptor might be associated with the acute and late phase reactions, in which T cells play a role in the construction of granulomas and the establishment of sequelae.
Pulmonary Alveolar Proteinosis in Setting of Inhaled Toxin Exposure and Chronic Substance Abuse
Authors: Meirui Li, Salem Alowami, Miranda Schell, Clive Davis, Asghar Naqvi
Journal: Case Rep Pulmonol (2018)
MeSH terms: Case Reports

Pulmonary alveolar proteinosis (PAP) is a rare lung disorder in which defects in alveolar macrophage maturation or function lead to the accumulation of proteinaceous surfactant in alveolar space, resulting in impaired gas exchange and hypoxemia. PAP is categorized into three types: hereditary, autoimmune, and secondary. We report a case of secondary PAP in a 47-year-old man, whose risk factors include occupational exposure to inhaled toxins, especially aluminum dust, the use of anabolic steroids, and alcohol abuse, which in mice leads to alveolar macrophage dysfunction through a zinc-dependent mechanism that inhibits granulocyte macrophage-colony stimulating factor (GM-CSF) receptor signalling. Although the rarity and vague clinical presentation of PAP can pose diagnostic challenges, clinician awareness of PAP risk factors may facilitate the diagnostic process and lead to more prompt treatment.
Discussion of tumor mutation burden as an indicator to predict efficacy of immune checkpoint inhibitors: A case report
Authors: Mingrui Wu, Lan Liang, Xiaotian Dai
Journal: Front Oncol (2022)
Keywords: immune checkpoint inhibitors, immunotherapy, prognostic biomarker, treatment efficacy, tumor mutation burden (tmb)
MeSH terms: Case Reports

There are many treatment options for advanced lung cancer, among which immunotherapy has developed rapidly and benefited a lot of patients. However, immunotherapy can only benefit a subgroup of patients, and how to select patients suitable for this therapy is critical. Tumor mutation burden (TMB) is one of the important reference indicators for immune checkpoint inhibitors (ICIs). However, there are many factors influencing the usage of this indicator, which will lead to considerable consequences if not treated well. In this study, we performed a case study on a male advanced lung squamous cell carcinoma patient of age 83. The patient suffered from "cough and sputum", and did chest CT scans on 24 October 2018, which showed "a mass-like mass in the anterior segment of the right lung upper lobe, about 38mm×28mm". He was treated with systemic chemotherapy; however, the tumor was still under progression. Although PD-L1 was not tested in gene testing, he had a TMB value of 10.26 mutations/Mb with a quantile value 88.63%. Thus, "toripalimab injection" was added as immunotherapy and the size of the lesion decreased. In summary, we adopted a clinical case as the basis to explore the value and significance of TMB in immunotherapy in this study. We hope that more predictive molecular markers will be discovered, which will bring more treatment methods for advanced lung cancer.
Compound Odontome: A Case Report
Authors: Vivek Rana, Nikhil Srivastava, Noopur Kaushik, Vrinda Sharma, Prerna Panthri, Madan Mohan Niranjan
Journal: Int J Clin Pediatr Dent (2019)
Keywords: calcified, compound, extraction, mandible, odontomes
MeSH terms: Case Reports

Introduction:
Odontomas generally appear as small, solitary, or multiple radio-opaque lesions found on routine radiographic examinations. Traditionally, odontomas have been classified as benign odontogenic tumors and are subdivided into complex or compound odontomas morphologically. Frequently, they interfere with the eruption of the teeth.
Case report:
This paper describes the case of a compound odontoma in a 10-year-old boy diagnosed after extraction of the retained right primary mandibular first molar in the radiograph. A surgical excision was performed and the histopathological examination revealed a compound odontome.
Conclusion:
Early diagnosis of odontomas and complete removal ensures better prognosis.
How to cite this article:
Rana V, Srivastava N, et al. Compound Odontome: A Case Report. Int J Clin Pediatr Dent 2019;12(1):64-67.
A novel CUL7 mutation in a Japanese patient with 3M syndrome
Authors: Tomozumi Takatani, Tadashi Shiohama, Rieko Takatani, Naoki Shimojo
Journal: Hum Genome Var (2018)
MeSH terms: Case Reports

3M syndrome is an autosomal recessive disease characterized by severe pre-natal and post-natal growth retardation, dysmorphic facial features, and skeletal abnormalities. We present a patient with 3M syndrome caused by the compound heterozygous mutations p.Trp68* and p.Gly1452Asp in CUL7, the latter of which is novel, who exhibited a good body height response to growth hormone treatment. These results expand our knowledge of phenotype-genotype correlations in 3M syndrome, including correlations relevant to growth hormone response.
Post-thyroidectomy tracheocutaneous fistula; A case report with literature review
Authors: Abdulwahid M Salih, Fahmi H Kakamad, Imad J Habibullah, Karzan Mohammed, Suhaib H Kakamad, Shvan H Mohammed, Berwn A Abdulla, Hiwa O Baba, Rawezh Q Salih, Dahat A Hussein
Journal: Int J Surg Case Rep (2020)
Keywords: ischemic tracheal injury, necrosis, thyroidectomy
MeSH terms: Case Reports

Introduction:
Total thyroidectomy represents one of the commonest procedures performed for thyroid diseases. The aim of this paper is to report a rare case of tracheocutaneous fistula after total thyroidectomy.
Case report:
A 44-year-age female presented with left side neck swelling for 2 month duration. Neck ultrasound showed a well-defined left thyroid nodule (25 × 15 × 14 mm) with features highly suggestive of malignancy, under general anesthesia total thyroidectomy was performed. On the third postoperative day, the patient came back with neck swelling especially during speaking, there was subcutaneous emphysema, wound opened with residual air leak. Under local anesthesia, the wound opened, there was 10 × 10 mm opening in the anterior aspect of trachea, a tracheostomy was inserted, the patient was sent home after decannulation with an opening in the anterior neck. Twenty days later the tracheal opening closed spontaneously.
Discussion:
The possibility of a tracheal wall ischemic necrosis is plausible due to cautery use. Some autopsy studies have demonstrated that small branches of inferior thyroid artery form the main blood supply of the upper segment of trachea. These fragile branches have a lateral entry point that can be damaged readily leading to ischemia and necrosis.
Conclusion:
Ischemic tracheal necrosis, although very rare, is possible after total thyroidectomy, minimal use of electro-cautery is advised whenever possible.