OpenMed/multicare-articles huggingface dataset:
Therapeutic Effect of CAOLD Chemotherapy Regimen on Patients With Relapsed/Refractory Angioimmunoblastic T-Cell Lymphoma: A Case Study
Authors: Yu Liu, Pingping Li, Liren Qian
Journal: Front Oncol (2022)
Keywords: caold, chop, angioimmunoblastic t-cell lymphoma, chemotherapy, peripheral t-cell lymphoma
MeSH terms: Case Reports

Angioimmunoblastic T-cell lymphoma (AITL) is a kind of peripheral T-cell lymphomas (PTCLs) with a highly invasive feature. At present, patients are often treated with CHOP or CHOP-like regimens which is of poor prognosis whilst having high recurrence rate. Once the patient fails to achieve remission or relapse after the first-line treatment, many salvage chemotherapy regimens are always ineffective, and the long-term survival will be difficult to achieve for them. In this circumstance, more effective therapy methods are needed. In this study, two patients with relapsed/refractory AITL were treated with the CAOLD regimen [cyclophosphamide 400 mg/m2 qd d1, cytarabine 30 mg/m2 qd d1-d4, vindesine 2 mg/m2 qd d1, pegaspargase (PEG-ASP) 2,500 IU/m2 qd d2, dexamethasone 7.5 mg/m2 qd d1-d5], and long-term remission was achieved after chemotherapy. One is still alive after achieving complete remission (CR) after two cycles of chemotherapy, who has been followed up for 82 months. Besides, another patient achieved partial remission (PR) after the first course of chemotherapy. Then, CR was obtained after four courses of consolidation chemotherapy. The patient has been followed up for 63 months and is still alive. Both of them achieved long-time survival. These two successful cases demonstrated that the CAOLD regimen can be a better choice for relapsed/refractory AITL and offers hope of breakthrough in this medical field.
A case of adrenocortical oncocytic carcinoma arising in ectopic adrenal tissue: a multidisciplinary diagnostic challenge
Authors: Nikita Wadhwani, Daniel Mais, Dharam Kaushik, Mio Kitano
Journal: Ecancermedicalscience (2020)
Keywords: adrenal, ectopic adrenal, endocrine surgery
MeSH terms: Case Reports

Adrenocortical oncocytic neoplasm arising in ectopic adrenal tissue is a rare finding and presents as a unique diagnostic challenge. We report a case of a 26-year-old female who presented with vague left-sided abdominal pain and a large left retroperitoneal mass. She underwent exploratory laparotomy and resection of the mass and was diagnosed with extra-adrenal adrenocortical oncocytic carcinoma.
Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome
Authors: Catarina Silvestre, Juliette Dupont, Rosário Silveira Santos, Brígida Robalo, Carla Pereira, Maria Lurdes Sampaio
Journal: Case Rep Pediatr (2019)
MeSH terms: Case Reports

Mosaicism brings great variability into the clinical expression of numerical and structural chromosomal abnormalities. The phenotypic variability of 45,X/46,XY mosaicism extends from Turner syndrome to apparently physically normal males. We present a case of a 14-year-old adolescent with short stature and delayed puberty, who was admitted in a Paediatric Endocrinology outpatient clinic. After a careful investigation, he was found to have a 45,X/46,X,idic(Y)(p11.32) mosaicism. This case report emphasizes the wide range of etiologies that can be involved in short stature and that chromosomal study is an important tool when firstly approaching males with short stature, avoiding unnecessary tests. There is an important clinical need for gonadal follow-up in this situation and for support in the decision about sex of rearing and sex orientation, when justifiable.
Use of Thromboelastogram in Venovenous Extracorporeal Membrane Oxygenation for a Patient with Pulmonary Hemorrhage due to Microscopic Polyangiitis
Authors: Chak-Kwan Tong, Jun Jin, Qian Du
Journal: Case Rep Crit Care (2019)
MeSH terms: Case Reports

Systemic heparinisation is required for extracorporeal membrane oxygenation therapy, to prevent clotting of circuit and formation of thrombus in patient. Activated clotting time (ACT) or activated partial thromboplastin time (aPTT) has been the mainstay of monitoring of heparin dose. Thromboelastogram (TEG) is increasingly being used again in recent years with the advancement in technology. Its clinical usefulness in the monitoring of anticoagulation of ECMO therapy is demonstrated in the case presented. Our patient suffered from severe hemoptysis due to active microscopic polyangiitis and respiratory failure. Heparin infusion was given at the initiation of ECMO support without further aggravation of hemoptysis. Dose of heparin was adjusted successfully with the integration of the clotting profile and TEG results.
Suicide attempt by intravenous potassium self-poisoning: a case report
Authors: Florent Battefort, Emilie Dehours, Baptiste Vallé, Ahmed Hamdaoui, Vincent Bounes, Jean-Louis Ducassé
Journal: Case Rep Emerg Med (2012)
MeSH terms: Case Reports

Introduction. Overdose of potassium is not as frequently encountered in clinical practice as hyperkalaemia due to acute or chronic renal disease. However, potassium overdoses leading to serious consequences do occur. Case Presentation. A 20-year-old nurse student presented with a cardiac arrest with asystole rhythm. Beside the patient were found four 50-mL syringes and empty vials of potassium chloride (20 mL, 10%). After initial resuscitation with epinephrine, 125 mL of a 4.2% intravenous solution of sodium bicarbonate were injected which resulted in the recovery of an effective cardiac activity. The patient recovered without sequelae. Conclusion. The difficulty in this case was to recognize the potassium poisoning. The advanced resuscitation with the use of a specific treatment helped to resuscitate the patient.
Liver transplantation in an adult with citrullinaemia type 2
Authors: Hui-Hui Tan, Wan-Cheng Chow, Kiat-Hon Lim, Wei-Keat Wan, Alexander Y F Chung, Peng-Chung Cheow, Chee-Kiat Tan
Journal: J Transplant (2011)
MeSH terms: Case Reports

Citrullinaemia is a urea cycle defect that results from a deficiency of the enzyme arginosuccinate synthetase. Type 1 disease is diagnosed in childhood, whereas Type 2 disease is adult onset. We report the outcome of a patient with citrullinemia Type 2 who received a liver transplant at our center and the implications of this diagnosis in liver transplantation.
Case report: long-term sustained remission in a case of metastatic colon cancer with high microsatellite instability and KRAS exon 2 p.G12D mutation treated with fruquintinib after local radiotherapy: a case report and literature review
Authors: Ruiqi Wang, Dan Cong, Yuansong Bai, Wenlong Zhang
Journal: Front Pharmacol (2023)
Keywords: kras exon 2 pg12d mutation, fruquintinib, metastatic colon cancer, microsatellite instability, radiotherapy
MeSH terms: Case Reports

To demonstrate the efficacy of fruquintinib administration after local radiotherapy in a patient with metastatic colon cancer with high microsatellite instability and the KRAS exon 2 p. G12D mutation. The patient was administered four cycles of pembrolizumab intravenous infusion and achieved stable disease as the best outcome. He was then underwent follow-up concurrent radiochemical therapy (local DT4600cGy/23f/32d radiotherapy, and S-1 to increase sensitivity to radiotherapy), but this had little efficacy. Following this, he was administered fruquintinib and achieved sustained partial remission. At the time of last follow-up, the patient was in continuous remission for 30 months. Administration of fruquintinib after local radiotherapy may be an effective treatment for specific populations with metastatic colorectal cancer.
Vitiligo Associated with Melanoma in a Malagasy Woman
Authors: I M Ranaivo, F A Sendrasoa, M Andrianarison, M Razakanaivo, L S Ramarozatovo, F Rafaramino, F Rapelanoro Rabenja
Journal: Case Rep Dermatol Med (2019)
MeSH terms: Case Reports

Malignant melanoma is the first fatal skin cancer. Vitiligo is a leukoderma or a multifactorial depigmentation acquired but especially of autoimmune origin. We report the first Malagasy case affected by both melanoma and Vitiligo. The appearance of Vitiligo during a melanoma could testify to an immunological response against melanocytes. Despite the association of melanoma and Vitiligo, the prognosis of melanoma is still fatal.
Recto-femoral fistula presenting as emphysematous cellulitis of the knee: a case report & literature review
Authors: P K Karampinas, D S Evangelopoulos, I S Benetos, E Kavroudakis, J Vlamis
Journal: Case Rep Emerg Med (2011)
MeSH terms: Case Reports

Purpose. The rectofemoral fistula represents a devastating complication of colorectal surgery. Its early diagnosis and treatment are critical to obtain a good patient outcome. Case Presentation. A 75-year-old Caucasian female patient presented with high fever, ileus, low back pain, sciatic nerve palsy, and infection of the right knee. After numerous surgical debridements and antibiotic therapies, a rectofemoral fistula was diagnosed. Conclusion. Increased doctors' alertness is mandatory for the early identification and surgical treatment of patients suffering from a rectofemoral fistula before the stage of diffuse infection has significantly decreases their postoperative morbidity and mortality.
A Rare Cause of Upper Airway Obstruction in a Child
Authors: H Ahmed, C Ndiaye, M W Barry, Aliou Thiongane, A Mbaye, Y Zemene, I C Ndiaye
Journal: Case Rep Otolaryngol (2017)
MeSH terms: Case Reports

Ventricular band cyst is a rare condition in children but can result in severe upper airway obstruction with laryngeal dyspnea or death. The diagnosis should be considered in any stridor in children with previous history of intubation or respiratory infections. We report a case of a 4-year-old girl, received in an array of severe respiratory distress, emergency endoscopy was done, and a large ventricular tape band cyst obstructing the air way was found. Complete excision was made, and postoperative prophylaxis tracheotomy was done. The postoperative course was uneventful with improvement of clinical and endoscopic signs.
Homozygous PIGT Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3
Authors: Li Yang, Jing Peng, Xiao-Meng Yin, Nan Pang, Chen Chen, Teng-Hui Wu, Xiao-Min Zou, Fei Yin
Journal: Front Genet (2018)
Keywords: gpi-anchored proteins, mcahs3, pigt, epilepsy, global developmental delay, hypotonia, multi-malformations
MeSH terms: Case Reports

PIGT encodes a subunit of the glycosylphosphatidylinositol transamidase complex, which catalyzes the attachment of proteins to GPI-anchors. A homozygous PIGT variant c.550G>A (p. E184K) in a Chinese boy with multiple malformations, hypotonia, seizure and profound development delay was identified by panel sequencing. Pathogenicity of the variant was confirmed by flow cytometry. The expression of CD16 and CD24 of this proband reduced to 16.92 and 22.16% compare with normal control respectively while which of his parents and sister were normal. This mutation raised the mRNA level on the peripheral blood mono nuclear cells of this patient. This study expanded the variant spectrum of MCAHS3, and CD16 could be an effective marker to evaluate the pathogenicity of PIGT mutation.
A lifelong smoker with hypopituitarism: rethinking the hypothesis of a tumor in the hypophysis
Authors: Nestoras Mathioudakis, Alfredo Quinones-Hinojosa, Roberto Salvatori, Shehzad Basaria
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Pituitary adenomas are the most common cause of a sellar mass. Metastases to the pituitary gland, a rare occurrence, may mimic benign pituitary adenomas. We report here a case of a 61-year-old woman with an 80-pack-year smoking history who presented with headache and diplopia. Visual field testing demonstrated bitemporal hemianopsia. Pituitary MRI revealed a 2.0 cm sellar mass impinging upon the optic chiasm. Hypopituitarism was present, with no evidence of diabetes insipidus. The patient was referred to our service for transsphenoidal resection of a presumed pituitary macroadenoma. As part of her preoperative evaluation, a chest radiograph was obtained, which showed a large hilar mass. In light of the patient's extensive smoking history, the differential diagnosis was expanded to include metastatic lesion to the sella. Transsphenoidal resection of the tumor was performed and histopathology revealed small cell carcinoma. The patient received chemotherapy, but died 18 months later due to widespread brain metastases. Although the presence of diabetes insipidus may help to discriminate between pituitary adenomas and metastatic lesions, this is not a sensitive finding. This case illustrates the need for maintaining a high index of suspicion for pituitary metastasis in patients with known risk factors for malignancy.
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity
Authors: Guido Jeannin, Nicola Chiarelli, Mario Gaggiotti, Marco Ritelli, Paolo Maiorca, Stefano Quinzani, Federica Verzeletti, Stefano Possenti, Marina Colombi, Giovanni Cancarini
Journal: BMC Med Genet (2014)
MeSH terms: Acute Kidney Injury / etiology, Asian People / genetics, Exercise, Glucose Transport Proteins, Facilitative / genetics, Heterozygote, Renal Tubular Transport, Inborn Errors / complications, Renal Tubular Transport, Inborn Errors / genetics, Urinary Calculi / complications, Urinary Calculi / genetics, Case Reports, Research Support, Non-U.S. Gov't, Acute Kidney Injury / complications, Adolescent, Adult, Aged, Base Sequence, Child, Child, Preschool, Female, Genotype, Humans, Male, Middle Aged, Mutation, Organic Anion Transporters / genetics, Organic Cation Transport Proteins / genetics, Pakistan, Phenotype, Recurrence, Renal Dialysis, Renal Tubular Transport, Inborn Errors / diagnosis, Renal Tubular Transport, Inborn Errors / therapy, Uric Acid / blood, Urinary Calculi / diagnosis, Urinary Calculi / therapy, Young Adult, Glucose Transport Proteins, Facilitative, Organic Anion Transporters, Organic Cation Transport Proteins, SLC22A12 protein, human, SLC2A9 protein, human, Uric Acid, Renal hypouricemia

Background:
Familial renal hypouricemia (RHUC) is a hereditary disease characterized by hypouricemia, high renal fractional excretion of uric acid (FE-UA) and can be complicated by acute kidney failure and nephrolithiasis. Loss-of-function mutations in the SLC22A12 gene cause renal hypouricemia type 1 (RHUC1), whereas renal hypouricemia type 2 (RHUC2) is caused by mutations in the SLC2A9 gene.
Case presentation:
We describe a 24-year-old Pakistani man who was admitted twice to our hospital for severe exercise-induced acute renal failure (EIARF), abdominal pain and fever; he had very low serum UA levels (0.2 mg/dl the first time and 0.09 mg/dl the second time) and high FE-UA (200% and 732% respectively), suggestive of RHUC. Mutational analyses of both urate transporters revealed a new compound heterozygosity for two distinct missense mutations in the SLC2A9 gene: p.Arg380Trp, already identified in heterozygosity, and p.Gly216Arg, previously found in homozygosity or compound heterozygosity in some RHUC2 patients. Compared with previously reported patients harbouring these mutations, our proband showed the highest FE-UA levels, suggesting that the combination of p.Arg380Trp and p.Gly216Arg mutations most severely affects the renal handling of UA.
Conclusions:
The clinical and molecular findings from this patient and a review of the literature provide new insights into the genotype-phenotype correlation of this disorder, supporting the evidence of an autosomal recessive inheritance pattern for RHUC2. Further investigations into the functional properties of GLUT9, URAT1 and other urate transporters are required to assess their potential research and clinical implications.
Metastatic seeding of glioblastoma along image-guided biopsy tract with successful treatment with re-irradiation: a case report
Authors: A Pascoe, R Vijayan, M Kumar, G Dow
Journal: Ecancermedicalscience (2012)
Keywords: glioblastoma, image-guided brain biopsy tract, metastatic seeding, re-irradiation

Metastatic seeding along image-guided brain biopsy tracts is an uncommon phenomenon. We report a case of meningeal glioblastoma (GBM) metastasis at the site of a previous image-guided biopsy site, which developed 14 months after completing concurrent chemo-radiotherapy. This is the first reported case of successful treatment of an intracranial GBM metastasis with resection followed by radiotherapy.
Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus
Authors: Gustavo Perez-Nanclares, Teresa Velayos, Amaya Vela, Manuel Muñoz-Torres, Luis Castaño
Journal: PLoS One (2015)
MeSH terms: GTP-Binding Protein alpha Subunits, Gs / genetics, Gene Duplication, Pseudohypoparathyroidism / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Adult, Chromogranins, Female, Humans, Male, Chromogranins, GNAS protein, human, GTP-Binding Protein alpha Subunits, Gs

Context:
Pseudohypoparathyroidism type 1b (PHP-Ib) is characterized by renal resistance to PTH (and, sometimes, a mild resistance to TSH) and absence of any features of Albright's hereditary osteodystrophy. Patients with PHP-Ib suffer of defects in the methylation pattern of the complex GNAS locus. PHP-Ib can be either sporadic or inherited in an autosomal dominant pattern. Whereas familial PHP-Ib is well characterized at the molecular level, the genetic cause of sporadic PHP-Ib cases remains elusive, although some molecular mechanisms have been associated with this subtype.
Objective:
The aim of the study was to investigate the molecular and imprinting defects in the GNAS locus in two unrelated patients with PHP-Ib.
Design:
We have analyzed the GNAS locus by direct sequencing, Methylation-Specific Multiplex Ligation-dependent Probe Amplification, microsatellites, Quantitative Multiplex PCR of Short Fluorescent fragments and array-Comparative Genomic Hybridization studies in order to characterize two unrelated families with clinical features of PHP-Ib.
Results:
We identified two duplications in the GNAS region in two patients with PHP-Ib: one of them, comprising ∼ 320 kb, occurred 'de novo' in the patient, whereas the other one, of ∼ 179 kb in length, was inherited from the maternal allele. In both cases, no other known genetic cause was observed.
Conclusion:
In this article, we describe the to-our-knowledge biggest duplications reported so far in the GNAS region. Both are associated to PHP-Ib, one of them occurring 'de novo' and the other one being maternally inherited.
Anesthetic management of direct laryngoscopy and dilatation of subglottic stenosis in a patient with severe myasthenia gravis
Authors: Hesham A Elsharkawy, Ursula Galway
Journal: Case Rep Anesthesiol (2012)
MeSH terms: Case Reports

We describe the anesthetic management of a patient with severe myasthenia gravis and tracheal stenosis; the patient was scheduled for direct laryngoscopy and dilatation. The combination of myasthenia gravis and tracheal obstruction presents several difficulties for anesthetic management. The airway is shared; therefore, any complications are also shared by the anesthesiologist and bronchoscopists. The potential for respiratory compromise in patients undergoing the two procedures requires that anesthesiologists be familiar with the underlying disease state, as well as the interaction of anesthetic and nonanesthetic drugs in a case involving myasthenia gravis. We reviewed the literature and report our experience in this case. There is no strong evidence for choosing one approach to general anesthesia over another for bronchoscopy. Careful preoperative planning and experience in airway management and jet ventilation are crucial to prevent an adverse outcome and obtain favorable results.
EGFR Inhibition in a Pretreated Sacral Chordoma: A Role for Erlotinib? Case Report and a Brief Review of Literature
Authors: D Trapani, F Conforti, T De Pas
Journal: Transl Med UniSa (2017)
Keywords: imatinib refractory, chordoma, erlotinib, sacral tumor

We describe the case of a 69-year old male with an EGFR- positive Imatinib refractory sacral chordoma with synchronous lung metastases, treated with erlotinib, a first-generation EGFR inhibitor. After disease progression following first-line Imatinib and a combination therapy with everolimus plus metformin, we made a challenge with an EGFR tyrosine kinase inhibitor (EGFR TKI), erlotinib. Despite a brief clinical benefit, the patient presented a rapid clinical deterioration leading to death, after 8 weeks of treatment.
Can Primary Cardiac Myxofibrosarcoma Grow Quickly from Zero to a Size Leading to Left-Sided Heart Failure within 9 Months?
Authors: Levan Karazanishvili, Eduard Limonjiani
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Malignant cardiac tumors are extremely rare, representing only 25% of all cardiac tumors, and angiosarcoma is the most common subtype. Myxofibrosarcomas are one of the rarest forms of cardiac malignant tumors. These tumors can silently grow and produce no or few symptoms until the tumor is large enough to obstruct blood flow. The definitive treatment is negative margin resection, if possible. Most cardiac tumors have a limited response to chemotherapy and radiotherapy. Therefore, surgical treatment is considered the best option. Our patient is a 57-year-old Caucasian postmenopausal female who presented with dyspnea, shortness of breath, and fatigue. Echocardiography confirmed the presence of a mass in the left atrium. A median sternotomy was performed with aortic and bicaval cannulation. Right atriotomy was performed, and the left atrium was exposed through the transseptal approach. A rounded smooth-surfaced mass was found in the left atrium that was 3.5 × 4.5 cm in size. The mass had a prominent and firm attachment point with a wide-based stalk in the pulmonary vein-right atrium border area. The tumor was completely excised, and the excision point was strengthened with a running suture. The following pathologic diagnosis was finally made: myxofibrosarcoma, FNCLCC (National Federation of Cancer Centres) Grade 2. Immunohistochemistry showed positivity for Epithelial membrane antigen (EMA), desmin, calretinin, Ki67, Smooth Muscle Actin (SMA), and S100. Given the rarity of cardiac malignant tumors, we thought preoperatively that this particular tumor could be a myxoma although it did not have the classical attachment point with a stalk at the interatrial septum. Our case is an example of how fast a cardiac sarcoma can grow. Nine months before the presentation, the patient underwent an echocardiography that did not show any signs of tumor growth. The estimated time of growth was 9 months or less. We followed our patient, performing a computer tomography scan and echocardiography 1 month after surgery, and these did not show any signs of tumor growth.
Williams syndrome with a "twist"
Authors: Despoina Maritsi, Lydia Kossiva, George Vartzelis
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Williams syndrome is a rare genetic condition with multisystemic involvement, caused by a microscopic deletion in the chromosome band 7q11.23. We describe the first case of a toddler with Williams syndrome who developed Benign Paroxysmal Torticollis (BPT), a benign dystonic disorder of unknown aetiology.