OpenMed/multicare-articles huggingface dataset:
7q36 deletion and 9p22 duplication: effects of a double imbalance
Authors: Karla de Oliveira Pelegrino, Sofia Sugayama, Ana Lúcia Catelani, Karina Lezirovitz, Fernando Kok, Maria de Lourdes Chauffaille
Journal: Mol Cytogenet (2013)
MeSH terms: Case Reports

The etiology of mental retardation/developmental delay (MRDD) remains a challenge to geneticists and clinicians and can be correlated to environmental and genetic factors. Chromosomal aberrations are common causes of moderate to severe mental retardation and may represent 10% of these occurrences. Here we report the case of a boy with development delay, hypoplasia of corpus callosum, microcephaly, muscular hypotonia, and facial dysmorphisms. A deletion of 7q36.1 → 36.3 and duplication of 9p22.3 → 23 was detected as a result of an unbalanced translocation of paternal origin. Breakpoint delimitation was achieved with array comparative genomic hybridization assay. Additional multiplex ligation dependent probe amplification (MLPA) analyzes confirmed one copy loss of 7q36.3 region and one copy gain of 9p24.3 region. Patient resultant phenotype is consistent with the already described findings for both 7q deletion and 9p duplication syndromes.
Tuberculosis Infection in a Patient Treated With Nivolumab for Non-small Cell Lung Cancer: Case Report and Literature Review
Authors: Ronwyn van Eeden, Bernardo L Rapoport, Teresa Smit, Ronald Anderson
Journal: Front Oncol (2019)
Keywords: checkpoint inhibitors, immune reconstitution, non-small cell lung cancer, pulmonary infiltrates, tuberculosis
MeSH terms: Case Reports

Nivolumab (PD-1 inhibitor) and other immune checkpoint inhibitors are used primarily to promote reactivation of anti-tumor immunity. However, due to their generalized immunorestorative properties, these agents may also trigger an unusual spectrum of side-effects termed immune-related adverse events. In the case of the lung, pulmonary infiltrates in patients treated with the anti-PD-1 inhibitors, nivolumab, or pembrolizumab, especially patients with non-small cell lung cancer, can result from immune-related pneumonitis, which, until fairly recently was believed to be of non-infective origin. This, in turn, may result in progression and pseudo-progression of disease. An increasing body of evidence has, however, identified pulmonary tuberculosis as an additional type of anti-PD-1 therapy-associated, immune-related adverse event, seemingly as a consequence of excessive reactivation of immune responsiveness to latent Mycobacterium tuberculosis infection. The current case report describes a 56-year old Caucasian female who presented with microbiologically-confirmed tuberculosis infection while on nivolumab therapy for non-small cell lung cancer. Notably, the patient, seemingly the first described from the African Continent, had not received immunosuppressive therapy prior to the diagnosis of tuberculosis.
Lipoma Arborescens of the Knee: Report of Three Cases and Review of the Literature
Authors: Ioannis Tsifountoudis, Dimitrios Kapoutsis, Anastasios-Nektarios Tzavellas, Ioannis Kalaitzoglou, Apostolos Tsikes, George Gkouvas
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

Lipoma arborescens is a chronic, slow-growing, intra-articular lesion of benign nature, which is characterized by villous proliferation of the synovium, with replacement of the subsynovial connective tissue by mature fat cells. It usually involves the suprapatellar pouch of the knee joint. It is not a neoplasm but is rather considered a nonspecific reactive response to chronic synovial irritation, due to either mechanical or inflammatory insults. We report three cases of lipoma arborescens affecting the knee, the first in a young male without previous history of arthritis or trauma, the second in a 58-year-old male associated with osteoarthritis, and the final in a 44-year-old male diagnosed with psoriatic arthritis, which cover the entire pathologic spectrum of this unusual entity. We highlight the clinical findings and imaging features, by emphasizing especially the role of MRI, in the differential diagnosis of other, more complex intra-articular masses.
Intrapleural bortezomib for the therapy of myelomatous pleural effusion: a case report
Authors: Magdalena Klanova, Pavel Klener, Marek Trneny, Jan Straub, Ivan Spicka
Journal: Case Reports Immunol (2012)

Myelomatous pleural effusion (MPE) is an extremely rare manifestation of multiple myeloma (MM). We present a case of MPE in a patient with IgG-κ MM treated with intrapleural bortezomib with systemic bortezomib-based therapy. Although we observed good local response, the patient succumbed due to systemic myeloma progression.
Incidentally Discovered Extranodal Marginal Zone B-Cell Lymphoma of Mucosa-Associated Lymphoid Tissue in the Colon
Authors: Raja Chandra Chakinala, Khwaja F Haq, Jonathan E Barsa, Shantanu Solanki, Lavneet Chawla, Muhammad Ali Khan, Taliya Farooq, Beth Schorr-Lesnick
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

We present a case of colonic mucosa-associated lymphoid tissue (MALT) lymphoma in a 62-year-old woman diagnosed after a positive test for fecal occult blood.
Pericarditis Caused by Enterococcus faecium with Acute Liver Failure Treated by a Multifaceted Approach including Antimicrobials and Hemoadsorption
Authors: Thomas Köhler, Mathias W Pletz, Simon Altmann, Carmen Kirchner, Elke Schwier, Dietrich Henzler, Günther Winde, Claas Eickmeyer
Journal: Case Rep Crit Care (2021)
MeSH terms: Case Reports

Background:
Sepsis and septic shock are still life-threatening diseases with a high mortality rate. We report a complex case of peritonitis with pericarditis and acute liver failure caused by septic shock. Potentially hepatotoxic antibiotic therapy levels were monitored using the liver maximum capacity (LiMAx®) test, and standard treatment was supplemented by adjunctive hemoadsorption with CytoSorb®. Case Presentation. The case features a 29-year-old woman with a history of Crohn's disease and cachexia. Peritonitis caused by Enterococcus faecium was diagnosed later due to an ileum perforation. The hematogenic spread led to pericarditis. In addition, sepsis-related acute liver failure complicated antimicrobial therapy further. The combination of standard therapy, anti-infective medication, and blood purification was associated with inflammation control, hemodynamic stabilization, and a concomitant decrease in vasopressor support. An efficient, sustained reduction in plasma bilirubin levels was achieved while maintaining liver function.
Conclusions:
This case shows how complex infectious diseases with an atypical infectious focus resulting in septic shock can be successfully treated. A combination of antimicrobial (tigecycline and caspofungin) and long-term adjunctive hemoadsorption therapy was administered while hepatotoxic antibiotic medication was monitored by liver function testing.
Retrieval of Embolized Amplatzer Patent Foramen Ovale Occlusion Device: Issues Related to Late Recognition
Authors: Allan J Davies, Nicholas Collins, Nicole Organ
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

Embolization of a percutaneous patent foramen ovale (PFO) closure device is a rare but serious complication. While early, periprocedural device embolization can normally be managed with snare and percutaneous retrieval, late embolization requires a different management strategy due to inability of the device to deform to allow passage into a large caliber sheath. We present a case of asymptomatic device embolization recognized six months following implantation and discuss the challenges encountered in successfully retrieving the device.
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia
Authors: Tsutomu Ogata, Tetsuya Niihori, Noriko Tanaka, Masahiko Kawai, Takeshi Nagashima, Ryo Funayama, Keiko Nakayama, Shinichi Nakashima, Fumiko Kato, Maki Fukami, Yoko Aoki, Yoichi Matsubara
Journal: PLoS One (2014)
MeSH terms: DiGeorge Syndrome / genetics, DiGeorge Syndrome / metabolism, Exome, Hypocalcemia / genetics, Hypocalcemia / metabolism, Mutation, Phenotype, T-Box Domain Proteins / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Adult, Asian People / genetics, Child, Child, Preschool, Comparative Genomic Hybridization, DiGeorge Syndrome / diagnosis, Female, High-Throughput Nucleotide Sequencing, Humans, In Situ Hybridization, Fluorescence, Infant, Infant, Newborn, Japan, Male, Pedigree, Young Adult, T-Box Domain Proteins, TBX1 protein, human

Background:
Although TBX1 mutations have been identified in patients with 22q11.2 deletion syndrome (22q11.2DS)-like phenotypes including characteristic craniofacial features, cardiovascular anomalies, hypoparathyroidism, and thymic hypoplasia, the frequency of TBX1 mutations remains rare in deletion-negative patients. Thus, it would be reasonable to perform a comprehensive genetic analysis in deletion-negative patients with 22q11.2DS-like phenotypes.
Methodology/principal findings:
We studied three subjects with craniofacial features and hypocalcemia (group 1), two subjects with craniofacial features alone (group 2), and three subjects with normal phenotype within a single Japanese family. Fluorescence in situ hybridization analysis excluded chromosome 22q11.2 deletion, and genomewide array comparative genomic hybridization analysis revealed no copy number change specific to group 1 or groups 1+2. However, exome sequencing identified a heterozygous TBX1 frameshift mutation (c.1253delA, p.Y418fsX459) specific to groups 1+2, as well as six missense variants and two in-frame microdeletions specific to groups 1+2 and two missense variants specific to group 1. The TBX1 mutation resided at exon 9C and was predicted to produce a non-functional truncated protein missing the nuclear localization signal and most of the transactivation domain.
Conclusions/significance:
Clinical features in groups 1+2 are well explained by the TBX1 mutation, while the clinical effects of the remaining variants are largely unknown. Thus, the results exemplify the usefulness of exome sequencing in the identification of disease-causing mutations in familial disorders. Furthermore, the results, in conjunction with the previous data, imply that TBX1 isoform C is the biologically essential variant and that TBX1 mutations are associated with a wide phenotypic spectrum, including most of 22q11.2DS phenotypes.
Grisel's Syndrome in Children: Two Case Reports and Systematic Review of the Literature
Authors: Nicole Pini, Martina Ceccoli, Patrizia Bergonzini, Lorenzo Iughetti
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

Background and Objective. Grisel's syndrome is a rare syndrome characterized by nontraumatic rotatory subluxation of the atlantoaxial joint. It usually affects children and typically presents with torticollis after ear, nose, and throat (ENT) surgery or head and neck infections. In the pediatric literature, there is only a small amount of available data; moreover, no systematic review has been previously done with focus on the pediatric population. We report our experience of two cases, and we provide a systematic review on Grisel's syndrome in children in order to offer a deeper insight about its clinical presentation, its current diagnosis, and principles of treatment. Case Reports and Review. We describe two boys of 9 and 8 years old, who developed atlantoaxial subluxation after adenoidectomy. Considering the early diagnosis, a conservative treatment was chosen, with no recurrence and no sequelae at follow-up. We identified 114 case reports, of which 90 describe children, for a total of 171 pediatric patients. Of the 154 cases in which cause was reported, 59.7% presented a head and neck infection and 35.7% had previous head and neck surgery. There is no sex prevalence (49.7% males versus 50.2% females). Mean delay in diagnosis is 33 days. Eight % of the patients had neurological impairment of the 165 cases which mentioned treatment, 96% underwent a conservative treatment, of whom the 8.8% recurred with the need of surgery. As a whole, 12% underwent surgery as a first- or second-line treatment. 3 6% of the patients whose follow-up was reported developed a sequela, minor limitation of neck movement being the most frequent. Conclusion. Grisel's syndrome should be suspected in children with painful unresponsive torticollis following ENT procedures or head and neck inflammation. CT scan with 3D reconstruction is the gold standard for diagnosis, allowing the identification of the subluxation and the classification according to the Fielding-Hawkins grading system. Surgical treatment is indicated in case of high-grade instability or failure of conservative treatment. Review of the literature shows how early diagnosis based on clinical and radiological evaluation is crucial in order to avoid surgical treatment and neurologic sequelae.
A Novel Mutation in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Authors: Julie R Whittington, Aaron T Poole, Eryn H Dutta, Mary B Munn
Journal: Case Rep Genet (2017)
MeSH terms: Case Reports

Background. A novel mutation in the ACTG2 gene is described in a pregnant patient followed up for chronic intestinal pseudoobstruction (CIPO) during pregnancy and her fetus with megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS). Case. 24-year-old gravida 1 para 1 with CIPO and persistent nausea and vomiting in pregnancy, admitted at 28 weeks of gestation. Ultrasound revealed a fetus measuring greater than the 95th percentile, polyhydramnios, and megacystis. At delivery, the newborn was noted to have an enlarged bladder, microcolon, and intolerance of oral intake. Genetic testing of mother and child revealed a novel mutation in the ACTG2 gene (C632F>A, p.R211Q). Conclusion. This is the first case in the literature describing a novel mutation in ACTG2 associated with visceral myopathy affecting both mother and fetus/neonate. Visceral myopathy should be included in the differential diagnosis of megacystis diagnosed by ultrasound, and suspicion should increase with family history of CIPO or MMIHS.
Mandibular implant-assisted removable partial denture - Kennedy Class I to Class III modification - Case series with masticatory performance and satisfaction evaluation
Authors: Rafael Araujo, Karla Zancopé, Rodrigo Moreira, Talita Barreto, Flávio Neves
Journal: J Clin Exp Dent (2023)
MeSH terms: Case Reports

In this work, we present 5 cases of Kennedy Class I patients with atrophic posterior mandible treated with the placement of 01 short WS Neodent® implant and a healing screw to support the removable prosthesis, transforming them into Kennedy Class III patients. To quickly evaluate and verify the benefit of this treatment, masticatory performance was evaluated with maximum bite force and chewing ability. A VAS questionnaire was also applied for a practical preoperative and postoperative evaluation of overall quality of life-changing for the patient after this treatment. This treatment plan was planned in order to reduce drastically the treatment costs and morbidity, and to enhance oral function and the quality of life for these patients. Also, this treatment lead to residual bone preservation, enhanced masticatory function and patient satisfaction. Especially in countries with a large number of patients with missing teeth and socio-economic difficulties to be fully rehabilitated with dental implants and fixed prosthesis treatment options with reduced costs are important to be in our armamentary os possibilities. Key words:Dental implants, masticatory performance, chewing, oral function, mixing ability.
Bradycardia Associated with Steroid Use for Laryngeal Edema in an Adult: A Case Report and Literature Review
Authors: Preeti R John, Ariana Khaladj-Ghom, Kimberly L Still
Journal: Case Rep Cardiol (2016)

Steroids are used for specific indications in the perioperative period to reduce laryngeal or spinal cord edema, or for prophylaxis and treatment of postoperative nausea and vomiting. Given the other potential causes for hemodynamic alterations in the perioperative setting, it is important for physicians to be aware of cardiovascular side effects of short term steroids. Changes in blood pressure and heart rate, cardiac dysrhythmias, and even death have been described in patients receiving short term intravenous steroids. Bradycardia has been reported following short term methylprednisolone and dexamethasone therapy in both adult and pediatric patients. There are only two case reports in the literature of bradycardia following short term intravenous dexamethasone use in adult patients. This is the first case report that describes bradycardia following the use of dexamethasone in the postoperative setting for management of laryngeal edema in an adult. Telemetry and twelve lead electrocardiograms revealed sinus bradycardia and correlated directly with administration of dexamethasone in our patient. Bradycardia resolved following discontinuation of dexamethasone. We advocate for hemodynamic monitoring in patients receiving more than one dose of intravenous steroid therapy in the perioperative period, especially those with known cardiac and hepatic comorbidities and those taking medications with negative chronotropic effects.
Edwardsiella tarda Infection Triggering Acute Relapse in Pediatric Crohn's Disease
Authors: A K Li, M Barton, J A Delport, D Ashok
Journal: Case Rep Infect Dis (2019)
MeSH terms: Case Reports

Crohn's disease exacerbations can often be associated with bacterial infections causing gastroenteritis. We report a child who experienced exacerbation of his Crohn's disease associated with a positive stool culture for Edwardsiella tarda (E. tarda). Endoscopy showed features of moderate inflammation similar to exacerbation of Crohn's disease. The patient was treated simultaneously with intravenous steroids and antibiotics, and his symptoms resolved. This case report highlights the importance of clinicians being able to promptly recognize and treat concurrent bacterial infections in Crohn's disease exacerbations.
Anomalous Left Main Coronary Artery Arising from the Right Sinus of Valsalva in a Young Man Presenting with Recurrent Syncope and Myocardial Infarction
Authors: Koroush Khalighi, Munish Sharma, Amit Toor, Rubinder S Toor, Gary Costacurta
Journal: Case Rep Cardiol (2018)
MeSH terms: Case Reports

A 19-year-old man with the left main coronary artery (LMCA) arising from the right sinus of Valsalva presented with recurrent episodes of syncope and myocardial infarction (MI). Anomalous aortic origin of a coronary artery (AAOCA) is an uncommon but extremely important differential diagnosis that should not be missed in patients presenting with syncope, MI, ventricular arrhythmias, or cardiac arrest. A definitive diagnosis with coronary angiography and prompt surgical intervention is imperative in such symptomatic patients.
Complete Transperitoneal Laparoscopic Nephroureterectomy in Circumcaval Ureter with Upper Tract TCC: Initial Case Report
Authors: Jaspreet Singh Chhabra, Shashikant Mishra, S B Sudharsan, Arvind P Ganpule, Ravindra B Sabnis, Mahesh R Desai
Journal: J Endourol Case Rep (2015)
MeSH terms: Case Reports

Transitional-cell carcinoma (TCC) of the upper tract in a case of circumcaval ureter (CCU) is a rare entity. Laparoscopic transperitoneal nephroureterectomy in such case represents a unique challenge in the era of minimally invasive surgery. We report a case of complete transperitoneal laparoscopic nephroureterectomy with bladder cuff excision done for TCC in a case of CCU. This case report describes the first point of technique of the procedure done for this rare entity. A 38-year-old male patient underwent the procedure for high-grade TCC of right lower calix. The essential tenets of the procedure included performance of the technique in a manner contrary to the conventional nephroureterectomy. The case report describes the procedure in the following steps: management of lower ureter and bladder cuff followed upper tract procedure after transposition of bladder cuff posterior to inferior vena cava. The procedure was accomplished utilizing four ports and a 6 cm Pfannenstiel incision with operative time of 220 minutes and blood loss of 50 mL.
Alleviation of brain hypoperfusion after preventative treatment with lomerizine in an elderly migraineur with aura
Authors: Joe Aoyagi, Ken Ikeda, Tetsuhito Kiyozuka, Takehisa Hirayama, Yuichi Ishikawa, Ryuta Sato, Yasuhiro Yoshii, Kiyokazu Kawabe, Yasuo Iwasaki
Journal: Int J Mol Imaging (2011)
MeSH terms: Case Reports

Previous studies of brain single-photon emission tomography (SPECT) showed changes of regional cerebral blood flow (rCBF) in migraineurs during prodromes or headache attacks. Little is known about how successful medication of migraine prevention can reflect rCBF in migraineurs. We highlighted alternation of brain SPECT findings in a migraineur with aura before and after prophylactic treatment with lomerizine, a calcium channel blocker. A 70-year-old man with migraine developed visual disturbance frequently at walking exercise for the recent 3 months. After this visual attack, a mild-degree of throbbing headache occured occasionally. Brain SPECT using (99m)Tc-ethyl cysteinate dimer was performed at interictal time of migraine. Brain SPECT before lomerizine treatment revealed hypoperfusion in the frontal, parietal, and occipital regions. He was diagnosed with recurrence of migraine with aura (MA). Lomerizine (10 mg/day, po) was administered for 3 months. MA and visual aura without headache were dramatically improved. Migraine attacks and visual disturbance were not induced at exercise. At 3 months after lomerizine medication, brain SPECT showed remarkable increase of rCBF. These SPECT changes of our patient indicated that antimigraine mechanism of lomerizine could contribute to restoration of cerebral hypoperfusion.
Trans-styloid, trans-hamate dorsal lunate dislocation: A case report
Authors: Anas M Alyamani, Mohammed F Alfawzan, Turki S Alhassan, Obaid M Almeshal
Journal: Int J Surg Case Rep (2019)
Keywords: carpal fracture, case report, dislocation, lunate, perilunate injury

Introduction:
Lunate dislocation is a rare and serious injury, frequently due to high-energy trauma such as a fall from height or a motor vehicle accident. Lunate dislocation is usually in the volar direction; however, dorsal dislocation of the lunate is extremely rare.
Presentation of case:
We report a case of 55-year-old male who sustained a high-energy trauma; he was hit by a car while crossing the street. The patient was referred to department of Plastic Surgery for left wrist dorsal dislocation of the lunate and bilateral multiple carpal bone fractures. He was managed by open reduction and internal fixation with scapholunate ligament repair for the left wrist, while the right wrist was treated conservatively.
Discussion:
Such cases must be treated urgently to avoid complications such as avascular necrosis of the lunate, median nerve injury, complex regional pain syndrome, and chronic carpal instability.
Conclusion:
This case is one of few cases reported in the literature highlighting the rarity of this injury pattern.