OpenMed/multicare-articles huggingface dataset:
Case Report: Autoimmune Psychosis in Chromosome 22q11.2 Deletion Syndrome
Authors: Nicolás Lundahl Ciano-Petersen, Omar Hamad-Cueto, Hania Drissi-Reyes, Álvaro Doña-Díaz, Guillermina García-Martín
Journal: Front Immunol (2021)
Keywords: autoimmune encephalitis, autoimmune psychosis, chromosome 22q112 deletion syndrome, cognitive impairment, psychosis
MeSH terms: Autoimmune Diseases / etiology, DiGeorge Syndrome / complications, Encephalitis / etiology, Psychotic Disorders / etiology, Case Reports, Adolescent, Autoimmune Diseases / drug therapy, DiGeorge Syndrome / diagnosis, Encephalitis / drug therapy, Female, Humans, Immunologic Factors / therapeutic use, Psychotic Disorders / drug therapy, Rituximab / therapeutic use, Immunologic Factors, Rituximab

Chromosome 22q11.2 deletion syndrome (22q11DS) is characterized by congenital cardiac abnormalities, hypoplastic thymus, palatal abnormalities, and hypocalcemia, although other clinical features are frequent such as autoimmune and psychiatric disorders. One-third of the patients have psychotic disorders, frequently followed by developmental regression and long-term cognitive disturbances. Despite humoral and cellular immunodeficiency are common in 22q11DS, it is associated with an increased prevalence of autoimmune disorders such as idiopathic thrombocytopenic purpura and juvenile idiopathic arthritis, likely due to immune dysregulations associated with thymic abnormalities, which plays a major role in self-tolerance. We report an unique case of a 14-year-old girl with 22q11DS that presented with subacute psychotic symptoms, intolerance to antipsychotics, CSF pleocytosis, and EEG abnormalities, that was successfully treated with empiric immunotherapy after fulfilling criteria for probable seronegative autoimmune encephalitis and probable autoimmune psychosis. The autoimmune etiology of these clinical features of 22q11DS has never been postulated despite the predisposition of this syndrome to present autoimmune disorders. We suggest the systematic evaluation with serum and CSF neuronal antibodies, MRI, and EEG of patients with 22q11DS that develop subacute psychotic symptoms or rapidly progressive cognitive decline. Early immunomodulatory therapies should be carefully considered if criteria of probable autoimmune psychosis or possible autoimmune encephalitis are fulfilled, as it may prevent long-term disabilities. Further studies are required to assess the autoimmune origin of psychosis and cognitive impairment associated with 22q11DS.
Primary malignant fibrous histiocytoma of the lung: a case report
Authors: I Tsangaridou, G Papamihalis, K Stathopoulos, O Konstantinopoulos, L Thanos
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Primary malignant fibrous histiocytoma (MFH) of the lung is extremely rare although it is among the most common soft tissue sarcomas in adults. Surgery is the primary mode of therapy, with high rates of local and distant recurrence, while radiation therapy appears to be a very useful adjunct, decreasing local relapse. We report a case of primary malignant fibrous histiocytoma of the lung. Fourteen years after surgical resection, the patient is still alive although with multiple metastatic lesions throughout his body.
The impact of declining vaccination coverage on measles control: a case study of Abia state Nigeria
Authors: Chukwuemeka Anthony Umeh, Hycienth Peterson Ahaneku
Journal: Pan Afr Med J (2013)
Keywords: immunization, measles, nigeria
MeSH terms: Communicable Disease Control / standards, Measles / epidemiology, Measles / prevention & control, Vaccination / statistics & numerical data, Child, Child, Preschool, Disease Outbreaks / statistics & numerical data, Female, Geography, Humans, Infant, Male, Measles Vaccine / therapeutic use, Nigeria / epidemiology, Vaccination / trends, Measles Vaccine

Introduction:
Efforts at immunizing children against measles was intensified in Nigeria with nation-wide measles vaccination campaigns in 2005-2006, 2008 and 2011 targeting children between 9 and 59 months. However, there were measles outbreaks in 2010 and 2011 in Abia state Nigeria. This study seeks to find out if there is any association between measles immunization coverage and measles outbreak.
Methods:
This is a descriptive analysis of the 2007 to 2011 Abia state measles case-based surveillance data supplied to Abia state World Health Organization office and Abia State Ministry of Health by the disease surveillance and notification officers.
Results:
As the proportion of cases with febrile rash who were immunized decreased from 81% in 2007 to 42% in 2011, the laboratory confirmed cases of measles increased from two in 2007 to 53 in 2011.Of the laboratory confirmed cases of measles, five (7%) occurred in children < 9 months, 48 (64%) occurred in children 9-59 months and 22 (29%) occurred in children < 59 months old. Seventy five percent of all laboratory confirmed cases of measles occurred in rural areas.
Conclusion:
Efforts should be made to increase measles immunization in children between 9 and 59 months as most cases of measles occurred in this age group as immunization coverage dropped. In addition, further studies should be carried out to determine the cause of the disproportional incidence of measles in rural areas in Abia state bearing in mind that measles immunization coverage in urban and rural areas was not markedly different.
Case report of traumatic intrapericardial diaphragmatic hernia: Laparoscopic composite mesh repair and literature review
Authors: Emad A Aborajooh, Zaid Al-Hamid
Journal: Int J Surg Case Rep (2020)
Keywords: composite mesh, diaphragmatic hernia, hernia, intrapericardial diaphragmatic hernia
MeSH terms: Case Reports

Introduction:
Traumatic rupture of the diaphragm with herniation of abdominal viscera into the pericardium is a rare injury. We present a case of intrapericardial diaphragmatic hernia after one year of thoracoabdominal trauma. This case is the 106th in the literature and only the fifth treated by the laparoscopic approach including this case. After case presentation, we will discuss post-traumatic intrapericardial diaphragmatic hernias by reviewing the literature.
Case presentation:
A 48-year-old male presented to our outpatient clinic with a history of thoracoabdominal trauma due to a motor vehicle accident one year ago. The patient complained from abdominal pain and constipation over the last year. After a thorough history and physical examination, thoracoabdominal computed tomography (CT) was performed. The CT scan revealed herniation of the transverse colon and omentum through a large anterior diaphragmatic defect into the pericardial sac. Laparoscopic composite mesh repair was done. The patient had an uneventful postoperative course and was discharged home on the second postoperative day. The patient was asymptomatic at regular follow-up six months postoperatively.
Conclusion:
Late presentation of intrapericardial diaphragmatic hernia is rare. Chest computed tomography is the most useful diagnostic tool. Delayed diagnosis of Intrapericardial diaphragmatic hernia does not preclude laparoscopic repair by primary closure or with mesh according to the size of the defect.
Esthetic Rehabilitation Using Magnet-Retained Cheek Plumper Prosthesis
Authors: Alisha Rewari, Nupur Dabas, Reshu Sanan, Shefali Phogat, Sumit Singh Phukela, Monika Vigarniya
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

Summary. Prosthetic rehabilitation of a completely edentulous patient is no more confined to replacement of missing teeth. Long span of edentulism and ageing leads to loss of support of the facial musculature, which is of great concern in treating completely edentulous patients. Flaccid facial musculature eventually leads to sunken cheeks and unesthetic appearance, causing a negative impact on psychological well-being of the patient. The use of conventional complete dentures can restore the loss to some extent, but in some cases, additional support is required. The present clinical report exemplifies the use of magnet-retained detachable maxillary cheek plumper prosthesis in a completely edentulous patient with sunken cheeks.
Case report: Late in-stent thrombosis in a patient with vertebrobasilar dolichoectasia after stent-assisted coil embolization due to the discontinuation of antiplatelet therapy
Authors: Zhe Ji, Wanxin Yang, Yongjie Ma, Lisong Bian, Guilin Li, Yongjuan Fu, Yueshan Piao, Hongqi Zhang
Journal: Front Neurol (2023)
Keywords: aneurysm—dissecting, autopsy, case report, stent assisted coil embolization, thrombosis
MeSH terms: Case Reports

Vertebrobasilar dolichoectasia (VBD) is a rare type of cerebrovascular disorder with high rates of morbidity and mortality. Due to the distinct pathological characteristics that fragmented internal elastic lamina and multiple dissections, VBD is difficult to treat and cured. Stent-assisted coil embolization is one of the main treatment modalities for such lesions. However, the duration of healing remained questionable, and there were no effective measures for evaluating endothelial coverage. Before complete endothelial coverage, the discontinuation of antiplatelet therapy may lead to fatal in-stent thrombosis; however, continued antiplatelet therapy could also result in bleeding complications. Thus, we present an autopsy case of late in-stent thrombosis due to the discontinuation of antiplatelet therapy and systematically review the literature to provide a reference for endovascular treatment and antiplatelet regimen of VBD.
Hysteroscopic diagnosis and excision of myometrial cystic adenomyosis
Authors: S Gordts, R Campo, I Brosens
Journal: Gynecol Surg (2014)
Keywords: adenomyosis, cystic, diagnosis, hysteroscopy, treatment

In 1908, Cullen described the first cases of cystic adenomyosis in his textbook on adenomyomata. Although not very common, with the introduction of noninvasive imaging techniques such as magnetic resonance imaging (MRI) and 3-D transvaginal ultrasound, an increasing number of cases have been reported. Patients primarily complain of severe dysmenorrhea, chronic pelvic pain, and dysfunctional uterine bleeding. Currently, it is unclear whether adenomyosis and, more specifically, cystic adenomyosis can be an underlying reason for impaired fertility and reproductive outcome. With the postponement of childbearing, the number of patients with adenomyosis and cystic adenomyosis seeking fertility treatment is increasing. Therefore, in these patients, uterine exploration should include not only the evaluation of the endometrial cavity but also the exploration of the sub-endometrial zone. Indirect imaging techniques, combined with office mini-hysteroscopy, offer the possibility of complete uterine exploration. Two patients with cystic adenomyosis are described in this paper: one had the chief complaint of menorrhagia and the other was referred for evaluation of infertility and severe dysmenorrhea. The aim of these case reports is to present hysteroscopic dissection and ablation of adenomyotic cysts as an alternative procedure for the surgical management of this condition.
Pathological complete remission of a locally advanced gastric cancer by neoadjuvant therapy "sandwich" regimen as SOXAP+ fluorescence laparoscopic surgery +SOXAP: Case report
Authors: Yanling Ma, Bofang Wang, Ewetse Paul Maswikiti, Xueyan Wang, Na Wang, Hao Chen
Journal: Front Pharmacol (2022)
Keywords: s-1, apatinib, camrelizumab, complete remission, locally advanced gastric cancer, oxaliplatin
MeSH terms: Case Reports

Gastric cancer is an extremely burdensome and challenging malignant tumor with a high incidence and a high mortality rate, which seriously results in a thorny prognosis for oncology patients. Surgical treatment combined with postoperative adjuvant therapy are currently the most regular methods for the treatment of locally advanced gastric cancer (LAGC), but long-term efficacy is not an ideal outcome. Therefore, herein we report a case of a pathologically confirmed complete remission of LAGC treated by the administration of neoadjuvant therapy combined with fluorescence laparoscopic surgery with more significant long-term survival. With that being mentioned, a 60-year-old man was diagnosed as moderately differentiated gastric antrum adenocarcinoma (T3N1M0). Moreover, after three cycles of SOXAP regimen (Oxaliplatin + S-1+Apatinib + Camrelizumab), and it was found out that the gastric lesion was smaller in size than before, total laparoscopic radical resection of the distal gastric cancer was performed at the time. Furthermore, no tumor cells were seen in gross specimen post operatively, achieving complete remission of the case. In addition, he also underwent three cycles of SOXAP regimen postoperatively. Interestingly and assuredly, he was in good health after an almost 2-year follow up period. These results suggest that this therapeutic regimen is a promising treatment modality for the management of locally advanced gastric cancers.
An unusual knee trauma: combined rupture of medial collateral ligament and patellar tendon
Authors: T De Baere, J De Muylder, A Deltour
Journal: Case Rep Orthop (2014)

We present the case of a combined lesion of the medial collateral ligament (MCL) and patellar tendon of the knee in a 45-year-old man, after a fall while skiing. Although there are numerous publications concerning associated tears of MCL and other knee ligaments, a combination of MCL tear with a rupture of the patellar tendon is very rare. After a review of the literature and treatment guidelines about these lesions, the clinical case is described and discussed. This knee trauma was treated with a transosseous reinsertion of the patellar tendon, which was reinforced by an allograft of fascia lata, followed by a direct suture of the MCL, which was reinforced with the lateral semitendinosus tendon.
Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect
Authors: Wakako Jo, Katsura Ishizu, Kenji Fujieda, Toshihiro Tajima
Journal: J Thyroid Res (2010)
MeSH terms: Case Reports

Loss-of-function mutations of the PAX8 gene are considered to mainly cause congenital hypothyroidism (CH) due to thyroid hypoplasia. However, some patients with PAX8 mutation have demonstrated a normal-sized thyroid gland. Here we report a CH patient caused by a PAX8 mutation, which manifested as iodide transport defect (ITD). Hypothyroidism was detected by neonatal screening and L-thyroxine replacement was started immediately. Although (123)I scintigraphy at 5 years of age showed that the thyroid gland was in the normal position and of small size, his iodide trapping was low. The ratio of the saliva/plasma radioactive iodide was low. He did not have goiter; however laboratory findings suggested that he had partial ITD. Gene analyses showed that the sodium/iodide symporter (NIS) gene was normal; instead, a mutation in the PAX8 gene causing R31H substitution was identified. The present report demonstrates that individuals with defective PAX8 can have partial ITD, and thus genetic analysis is useful for differential diagnosis.
Tumoral Calcinosis of Thoracic Spine Associated with Vertebral Fracture and Inflammatory Reactions
Authors: Isamu Miura, Motoo Kubota, Kento Takebayashi, Oji Momosaki, Koichi Honma, Takakazu Kawamata, Masahito Yuzurihara
Journal: Case Rep Orthop (2020)
MeSH terms: Case Reports

Tumoral calcinosis involving the spine is rare. The involvement of the thoracic spine is rarer than that of the cervical or lumbar spine. We report a case of thoracic tumoral calcinosis accompanied by vertebral fracture with increased concentrations of inflammatory markers and no abnormalities in serum calcinosis and phosphorus concentration. A 60-year-old woman presented with complete paraplegia. Her white blood cell count and C-reactive protein (CRP) concentration were elevated. The thoracic magnetic resonance imaging revealed vertebral fracture and an epidural mass that demonstrated low intensity on both T2- and T1-weighted images at the T9/10 dorsal side of the central canal. This lesion is larger in size than that observed in the previous 2 months. Her laboratory data showed signs of infection, and only decompression surgery without fixation for treatment and diagnosis was performed. Histopathological examination was consistent with tumoral calcinosis. Postoperatively, the patient's white cell count and CRP concentration were normalized. We found that tumoral calcinosis can occur at the thoracic level on the basis of the spinal instability due to the vertebral compression fracture and the accompanying increase in inflammation indicated by increased white blood cell count and CRP concentration.
Spontaneous radial artery pseudoaneurysm in an infant due to idiopathic medial hypoplasia - a case report
Authors: William W Kesler 3rd, Joseph J Maleszewski, Alexander H Payatakes
Journal: Case Reports Plast Surg Hand Surg (2019)
MeSH terms: Case Reports

Spontaneous pseudoaneurysms are uncommon vascular lesions in children. A seven-month-old boy presented for management of a painless, pulsatile mass of the volar forearm identified as a pseudoaneurysm of the radial artery on imaging, definitively treated with surgical excision. Histology was concerning for fibromuscular dysplasia, without additional lesions on whole-body imaging.
Identification of a novel FGFR2-KIAA1217 fusion in esophageal gastrointestinal stromal tumours: A case report
Authors: Yuehao Luo, Ying Wu, Xiaona Chang, Bo Huang, Danju Luo, Jiwei Zhang, Peng Zhang, Heshui Shi, Jun Fan, Xiu Nie
Journal: Front Oncol (2022)
Keywords: fgfr2-kiaa1217 fusion, esophageal, gastrointestinal stromal tumor, next-generation sequencing, quadruple wild-type
MeSH terms: Case Reports

Background:
Gastrointestinal stromal tumours (GISTs) rarely arise in the esophagus. The clinical course and treatment options for esophageal GISTs are poorly understood because of their rarity. In general, the mutation spectrum of esophageal GISTs resembles that of gastric GISTs. Wild-type (WT) GISTs lacking KIT and PDGFRA gene mutations occasionally occur in adults; primary esophageal GISTs are commonly WT.
Case presentation:
Herein, we report the case of a 41-year-old female patient who presented with a 1-week history of anterior upper chest pain. Chest computed tomography revealed a 3.7 cm × 2.8 cm × 6.7 cm soft tissue mass in the right posterior mediastinum adjacent to the esophagus. The patient underwent thoracoscopic mediastinal tumor resection and was subsequently diagnosed with an esophageal GIST. Neither KIT nor PDGFRA mutations were detected by Sanger sequencing; however, next-generation sequencing (NGS) identified an FGFR2-KIAA1217 gene fusion in the tumor tissue. No relapse was observed in this patient during the 8-month treatment-free follow-up period.
Conclusion:
To the best of our knowledge, this report is the first to describe an FGFR2-KIAA1217 fusion in a patient with a quadruple WT esophageal GIST. When WT KIT/PDGFRA GISTS are suspected, intensive genetic analysis is recommended, and obtaining a better molecular characterization of these tumours might reveal novel therapeutic avenues.
Laparoscopic Radical Cystectomy and Ileal Neobladder for Muscle Invasive Bladder Cancer in Combination with One Stage Prophylactic Laparoscopic Sacrospinal Fixation to Avoid Future Pelvic Organ Prolapse
Authors: Péter Törzsök, Sophina Bauer, Rosemarie Forstner, Karl-Dietrich Sievert, Günter Janetschek, Reinhold Zimmermann
Journal: J Endourol Case Rep (2016)
MeSH terms: Case Reports

Background:
Women who undergo cystectomy with orthotopic ileal neobladder are more likely to have urinary retention and neocystocele mainly because of anatomical reasons than stress urinary incontinence. The risk is even higher in case of neurologic comorbidities, as in case of our patient.
Case presentation:
We present a laparoscopic mesh insertion for sacrospinal colposuspension to prevent a neocystocele and pelvic organ prolapse in combination with laparoscopic radical cystectomy in a female patient suffering from bladder cancer and chronic episodic multiple sclerosis. After a 30-month follow-up, the patient is continent and voids without residual urine. A dynamic MR of the pelvis shows a minimal rectocele without any evidence of a cystocele.
Conclusion:
Laparoscopic cystectomy combined with sacrospinal mesh fixation is technically feasible and could be an option to prevent neocystocele for female patients.
Neoadjuvant Immunotherapy of Oral Squamous Cell Carcinoma: Case Report and Assessment of Histological Response
Authors: Manuel Olmos, Jacek Glajzer, Tjark-Ole Büntemeyer, Gesche Frohwitter, Jutta Ries, Markus Eckstein, Markus Hecht, Rainer Lutz, Marco Rainer Kesting, Manuel Weber
Journal: Front Oncol (2021)
Keywords: oscc, pd-1 - pd-l1 axis, case report, immune checkpoint inhibitors, immunotherapy, neoadjuvant, oral cancer, pembrolizumab
MeSH terms: Case Reports

Background:
The treatment of oral cancer remains challenging due to its infiltrative nature and a high tendency for tumour relapse leading to an overall poor prognosis. In the case of early recurrence, the patient's prognosis deteriorates dramatically, with survival rate dropping to below 30%. Minimal improvements in survival trends in recurrent and advanced stage tumours have been reported in recent decades. Neoadjuvant immunotherapy may represent a new therapeutic approach changing the standard of care in advanced oral cancer therapy.
Case presentation:
We describe the case of a woman in her late 30's who presented in mid-2019 with oral squamous cell carcinoma (OSCC) localized to the floor of the mouth. After initial R0 resection, selective neck dissection, and adjuvant brachytherapy, an early recurrence of OSCC located between the hyoid bone and the mandible was diagnosed at the end of 2019. An off-label treatment regimen was performed with neoadjuvant use of Pembrolizumab 19 days prior to salvage surgery. Radiological and histological assessment of T-cell and programmed cell death protein 1 ligand 1 (PD-L1) expression was performed before and after checkpoint inhibitor application. Neoadjuvant immunotherapy resulted in increased T-cell infiltration and PD-L1 expression, as well as a significant tumour necrosis rate. One cycle of Pembrolizumab led to significant regressive tumour changes with increases in immune infiltration, sclerosis, and necrosis of 75% of the tumour mass with only 25% vital tumour cells remaining. By June 2020, the patient remained without recurrence.
Conclusions:
The case presented outlines the potential effects of neoadjuvant immunotherapy in recurrent or advanced OSCC prior to definitive surgical tumour treatment. The benefit of additional adjuvant treatment after histologic response will be discussed. The case is also analysed considering ongoing clinical trials of neoadjuvant immunotherapy for head and neck malignancies.
Rehabilitation of posterior maxilla with zygomatic and dental implant after tumor resection: a case report
Authors: Faysal Ugurlu, Coskun Yıldız, B C Sener, Atilla Sertgoz
Journal: Case Rep Dent (2013)

Zygomatic implants have been used for dental rehabilitation in patients with insufficient bone in the posterior upper jaw, due to, for example, tumor resection, trauma, or atrophy. Zygomatic implants are an alternative to complex free or vascularized bone grafting and distraction osteogenesis. A 42-year-old male patient with a severe defect in the right posterior maxilla, starting from the first canine region, which had occurred after tumor resection 3 years earlier, was referred to our department. One zygomatic implant (Brenemark System, Nobel Biocare, Goteborg, Sweden) to the zygoma and one dental implant to the canine region were placed. After a 5-month osseointegration period, a fixed denture was fabricated and adapted to the implants. Although the surgical and prosthetic procedures for zygoma implants are not easy, the final outcomes can be successful with appropriate planning.