OpenMed/multicare-articles huggingface dataset:
Genetic Testing Distinguishes Multiple Chondroid Chordomas with Neuraxial Bone Metastases from Multicentric Tumors
Authors: Hiroshi Kobayashi, Masahiro Shin, Naohiro Makise, Aya Shinozaki-Ushiku, Masachika Ikegami, Yuki Taniguchi, Yusuke Shinoda, Shinji Kohsaka, Tetsuo Ushiku, Katsutoshi Oda, Kiyoshi Miyagawa, Hiroyuki Aburatani, Hiroyuki Mano, Sakae Tanaka
Journal: Case Rep Genet (2020)
MeSH terms: Case Reports

Background:
Chordomas are rare malignant bone tumors preferentially forming in neuraxial bones. Chondroid chordoma is a subtype of chordoma. Chordomas reportedly present as synchronous multiple lesions upon initial diagnosis. However, it remains unknown whether these lesions are multicentric or metastatic multiple chordoma tumors. Case Presentation. Here, we present the case of a 57-year-old woman with multiple chordomas at the clivus, C6, and T12 upon initial presentation. Sequential surgeries and radiotherapy were performed for these lesions, and postoperative histological diagnosis revealed that all lesions were chondroid chordomas. Next-generation sequencing revealed that these lesions harbored a common somatic mutation in epidermal growth factor receptor (EGFR), c.3617A>C, which is not considered a pathogenic chordoma mutation, thus indicating that these lesions were not multicentric but rather multiple metastatic tumors. Subsequent multiple metastases to the lung and appendicular and axial bones were detected 15 months after the initial surgery. Recurrent lesions at the clivus progressed despite EGFR-targeted therapy, surgery, and radiotherapy.
Conclusion:
The present evidence indicates that multiple chordomas in this case were caused by multiple metastases rather than multicentric lesions. Multiple presentations of chordoma imply systemic dissemination of tumor cells, and novel efficient systemic therapy is required to treat this disease.
De novo Balanced Robertsonian Translocation rob(22;22)(q10;q10) in a Woman with Recurrent Pregnancy Loss: A Rare Case
Authors: Nawras Alhalabi, Walid Al-Achkar, Abdulsamad Wafa, Mazen Kenj, Marwan Alhalabi
Journal: J Reprod Infertil (2018)
Keywords: assisted reproduction techniques, recurrent pregnancy loss, robertsonian translocation, syria
MeSH terms: Case Reports

Background:
Recurrent pregnancy loss (RPL), one of the most common complications of pregnancy, is responsible for significant emotional distress to the couple desiring to conceive. In almost 50% of the cases, the etiology remains unknown. The frequency of chromosomal structural rearrangements associated with a history of RPL in couples varies between 2% to 8%. Robertsonian translocations (ROBs) have an estimated incidence rate of 1/1000 births, making this type of rearrangement the most common structural chromosomal abnormalities seen in the general population. According to the literature, there are few RPL cases with rob (22;22).
Case presentation:
This case is a Syrian female offered to the Orient Hospital (Damascus, Syria), having RPL in the first trimester, no fetal malformations, and/or no neonatal death. She had a balanced chromosomal translocation involved the both short arms of chromosome 22. Banding cytogenetics, refined by array-proven multicolor banding (aMCB) revealed a rob (22; 22)(q10;q10). Her husband had a normal karyotype. Interestingly, chromosomal analysis was performed for her other family members and it revealed normal karyotype for all people, which indicates that translocation is of de novo origin. However, the couple did not have any living offspring after seven years of marriage.
Conclusion:
The present case was a case of RPL occurring due to rob (22;22). However, the rob(22;22)(q10;10) is the cause of recurrent abortions. Couples with the history of RPL should be suggested to do cytogenetic analysis in order to estimate whether they have chromosomal rearrangement. This diagnostic approach is of great significance to figure out what causes RPL.
Deep Brain Stimulation Surgery for Parkinson Disease Coexisting With Communicating Hydrocephalus: A Case Report
Authors: Carlos Guevara, Jose de Grazia, Pedro Vazquez, Pablo Baabor, Cristián Garrido, Melissa Martinez, Jaime Fuentes, Fabian Piedimonte, Marcos Baabor
Journal: Front Neurol (2018)
Keywords: communicating hydrocephalus, deep brain stimulation (dbs), globus pallidus internus (gpi), idiopathic normal pressure hydrocephalus (inph), parkinson disease, ventriculomegaly
MeSH terms: Case Reports

We report a successful bilateral globus pallidus internus-deep brain stimulation (GPi-DBS) for a Parkinson disease (PD) patient with idiopathic normal pressure hydrocephalus (INPH) and an unusually long anterior commissure-posterior commissure (AC-PC) line. A 54-year-old man presented with a history of 3 months of severe shuffling gait, rigidity, slow movements of the left side limbs, and difficulty managing finances. A brain MRI revealed marked ventriculomegaly (Evans index = 0.42). The patient was diagnosed with INPH and a ventriculoperitoneal shunt was placed. Cognitive impairment improved, but walking disturbances, slowness, and rigidity persisted. Then treatment with levodopa was added, and the patient experienced a sustained improvement. He was diagnosed with PD. After 7 years, the patient developed gait freezing and severe levodopa-induced dyskinesia. The patient underwent bilateral GPi-DBS. We used MRI/CT fusion techniques for anatomical indirect targeting. Indirect targeting is based on standardized stereotactic atlas and on a formula-derived method based on AC-PC landmarks. The AC-PC line was 40 mm (the usual length is between 19 and 32 mm). Intraoperative microelectrode recording was a non-expendable test, but multiple recordings were avoided to reduce the surgical risk of ventricular involvement. There was a 71% decrease in the UPDRS III score during the on-stimulation state (28 to 8). The patient's dyskinesias resolved dramatically with a UdysRS of 15 (88% improvement) during the on-stimulation condition. The observed motor benefits and the improvement of his daily activities have persisted 6 months after surgery. Deep brain stimulation surgery in PD with ventriculomegaly is a challenge. This procedure can result in a greater chance of breaching the ventricle, with risks of intraventricular hemorrhage and migration of cerebrospinal fluid into the brain parenchyma with target displacement. Furthermore, clinical judgment is paramount when recent onset of shuffling gait coexists with ventriculomegaly because the most common dilemma is differentiating between PD and INPH. For these reasons, neurologists and surgeons may refuse to operate on PD patients with ventriculomegaly. However, DBS should be considered for PD patients with motor complications when responsiveness to levodopa is demonstrated, even in the context of marked ventriculomegaly.
Malassezia species infection of the synovium after total knee arthroplasty surgery
Authors: Hamed Ebrahimzadeh Leylabadlo, Elham Zeinalzadeh, Najibeh Asl Rahnemaii Akbari, Hossein Samadi Kafil
Journal: GMS Hyg Infect Control (2016)
Keywords: malassezia, arthroplasty, infection, knee
MeSH terms: Case Reports

Infection is a serious complication after implantation of total knee-prostheses. However, fungal infection is rarely found in periprosthetic joints, and in most reports, the infecting organism is a Candida species. This is a case report of infection after left knee total arthroplasty caused by Malassezia species. The patient is still undergoing antifungal therapy with voriconazole and is still being followed-up. To the authors' knowledge, the present case is the first report of Malassezia species in a patient after total knee arthroplasty.
Successful Treatment of a Single Giant Renal Cyst in a Newborn with Drainage and Sclerotherapy
Authors: Adriana Koenig, Anika Ménétrey, Tobias Jhala, Vincent Uerlings, Philipp O Szavay
Journal: European J Pediatr Surg Rep (2022)
Keywords: renal cyst, sclerotherapy, single giant renal cyst
MeSH terms: Case Reports

Simple renal cysts are a scarce entity in pediatric patients and their etiology is unknown in most cases. Usually, they are monitored with ultrasound and regular follow-up of renal function. Surgical treatment is rarely indicated. We report the case of a newborn with a single giant renal cyst that could be treated successfully with drainage and sclerotherapy. Single giant renal cysts require careful investigation and monitoring. In cysts without communication to the pelvico-caliceal system, sclerotherapy by instillation of doxycycline is a therapeutic option.
Case report: Improving quality of care in Kazakhstan institutions
Authors: Robert B McCall, Christina J Groark, Akbota Jappar, Rifkat J Muhamedrahimov, Oleg I Palmov, Brandi N Hawk, Abigail P Chen, Caitlin F Spear, Larisa Mason
Journal: Front Psychol (2022)
Keywords: kazakhstan, community case study, development, improve caregiving, infants, institutions
MeSH terms: Case Reports

This project is a community case study implemented by local professionals and caregivers to improve the quality of caregiving in two Kazakhstan institutions for infants and toddlers. Local professionals first received comprehensive training by an international team experienced in relevant research-based practices, and then the locals trained institutional staff. Over nearly 2 years, one institution progressively implemented changes in three wards and the other institution in one ward. The changes attempted to make the institution more family-like (e.g., smaller groups and fewer and more consistent caregivers) and caregivers behave more parent-like (e.g., more warm, sensitive, responsive interactions and relationships) without changing nutrition or medical care. Of the 45 children given some exposure to the emerging new wards, 11 experienced the fully revised wards for at least 4 months during their first 2 years of life. They displayed substantial increases in their physical growth, especially those entering in their first year of life, in contrast to the unchanging developmental patterns of 165 children who were reared in the two institutions before the ward changes were made. Physical growth is a commonly used standard of developmental well-being in institutions. Research shows it is sensitive to infants' psychosocial environment, and improvements in physical growth are related to children's cognitive and social-emotional development. Although this pilot community case study had only a few infants fully exposed to the complete ward changes and lacked characteristics of a research experiment, these results are consistent with children's developmental improvements reported in larger scientific studies of similar interventions. This project is an example of how some research-based practices are likely to be implemented in communities in the future. Specifically, it shows that local communities can successfully improve the rearing conditions within institutions, which improve the children's development, and may contribute to the success of their subsequent foster placement and adoption.
Cyclosporine for the treatment of HLTV-1-induced HAM/TSP: an experience from a case report
Authors: Adrián Sánchez-Montalvá, Fernando Salvador, Estrella Caballero, Israel Molina
Journal: Medicine (Baltimore) (2015)
MeSH terms: Cyclosporine / therapeutic use, Immunosuppressive Agents / therapeutic use, Paraparesis, Tropical Spastic / drug therapy, Case Reports, Adult, Female, Humans, Immunosuppressive Agents, Cyclosporine

HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) remains a challenging disease. Treatment options are scarce, and their safety and efficacy are currently a matter of concern.We present a case report describing our experience using cyclosporine in a patient with early HAM/TSP who started with a gait disturbance at Vall d'Hebron University Hospital (Barcelona) from August 2012 to October 2013. After 62 weeks of treatment, clinical improvement was observed and proviral load diminished. No safety concerns were observed.Cyclosporine seems to be effective in new-onset HAM/TSP or in chronic HAM/TSP that develops a relapse. However, the duration and safety profile of this steroid-sparing therapy remain unknown and should be further investigated.
Intravoxel incoherent motion magnetic resonance imaging findings in the acute phase of MELAS: a case report
Authors: Ryuji Uehara, Koji Yamashita, Akio Hiwatashi, Osamu Togao, Kazufumi Kikuchi, Jun Yokoyama, Dai Matsuse, Takashi Yoshiura, Hiroshi Honda
Journal: Brain Behav (2014)
Keywords: diffusion mri, ivim, melas, perfusion mri
MeSH terms: MELAS Syndrome / diagnosis, MELAS Syndrome / pathology, Magnetic Resonance Imaging / methods, Occipital Lobe / pathology, Temporal Lobe / pathology, Case Reports, Research Support, Non-U.S. Gov't, Acute Disease, Cerebrovascular Circulation, Humans, Male, Young Adult

Objective:
We report the clinical application of intravoxel incoherent motion (IVIM) magnetic resonance (MR) imaging to diagnose a case of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) in the acute phase.
Results:
On IVIM MR Images of this patient, higher perfusion (f) and diffusion (D) values in the left occipital and temporal lobes were found compared to the contralateral areas.
Conclusion:
These findings imply a breakdown of autoregulation with hyperperfusion and vasogenic edema during the acute phase of MELAS, as described in previous reports. IVIM imaging is a valuable, noninvasive tool that simultaneously quantifies perfusion and diffusion parameters.
Case Report: Male Lobular Breast Cancer in Hereditary Cancer Syndromes
Authors: Ileana Carnevali, Gianluca Tedaldi, Valeria Pensotti, Nora Sahnane, Donata Micello, Francesca Rovera, Fausto Sessa, Maria Grazia Tibiletti
Journal: Front Oncol (2022)
Keywords: brca, cdh1, case report, inherited cancer syndromes, male lobular breast cancer
MeSH terms: Case Reports

Background:
Lobular breast carcinoma (LBC) is considered an exceptionally rare disease in men, including only 1% of all male breast malignancies. The majority of LBCs have negative immunohistochemical staining for E-cadherin (CDH1) expression, and the loss of CDH1 function was traditionally implicated in the tumorigenesis of diffuse gastric cancer as well as LBC. It is well recognized that LBC in women could be involved in both hereditary breast and ovarian cancer (HBOC) and hereditary diffuse gastric cancer (HDGC) syndromes; however, there are no data present in literature about the involvement of male LBC in these inherited conditions.
Methods:

BRCA1, BRCA2, and CDH1 genes were performed on DNA from peripheral blood using next-generation sequencing (NGS), Sanger sequencing, and multiplex ligation-dependent probe amplification analyses. BRCA2 and CDH1 somatic gene analyses were performed on breast tumoral DNA using the NGS sequencing approach.
Results and conclusions:
Here, we describe two men affected by LBC, the carriers of a pathogenic variant of BRCA2 and CDH1 genes, respectively. Our data, including somatic and germline results, demonstrate a strong relationship between male LBC and HBOC/HDGC syndromes, excluding a sporadic origin of LBC in these two patients. Male LBC could represent a sentinel cancer for inherited syndrome identification, and early identification of cancer susceptibility could improve cancer prevention both for men and women in these families. The history of the LBC patient carrier of the CDH1 variant suggests to include male LBC genetic testing criteria and male breast surveillance in HDGC guidelines.
Manic episode after ventricular-peritoneal shunt replacement in a patient with radiation-induced hydrocephalus: the role of lifetime subthreshold bipolar features
Authors: Antonio Callari, Valentina Mantua, Mario Miniati, Antonella Benvenuti, Mauro Mauri, Liliana Dell'osso
Journal: Case Rep Psychiatry (2014)

We present a case report of a woman hospitalized for a ventricular-peritoneal shunting replacement, who developed a manic episode with psychotic symptoms after hydrocephalus resolution. We have no knowledge of cases of manic episodes due to hydrocephalus resolution by ventricular-peritoneal shunt replacement, although previous case reports have suggested that hydrocephalus might induce rapid-onset affective episodes or mood cycles. The patient's history revealed the lifetime presence of signs and features belonging to the subthreshold bipolar spectrum, in absence of previous full-blown episodes of a bipolar disorder. Our hypothesis is that such lifetime sub-threshold bipolar features represented precursors of the subsequent full-blown manic episode, triggered by an upregulated binding of striatum D2 receptors after the ventricular-peritoneal shunt replacement.
Inflammatory Myofibroblastoma of the Breast: A Case Report
Authors: Ling Wei, Guoyuan Jiang, Lala Bai, Tingchao Li, Xuejin Ma, Lin Jiang, Jie Wang, Shiguang Li
Journal: Front Oncol (2021)
Keywords: mri, breast, case report, inflammatory myofibroblastoma, mammography
MeSH terms: Case Reports

Inflammatory myofibroblastic tumor (IMT) is a rare tumor with low-grade malignant risk mainly occurring in soft tissues and lungs, and it is extremely rare in the breast. Meanwhile, imaging findings of the tumor often present with non-specific features that lead to misdiagnosis and delayed treatment. Here, we report a case of inflammatory myofibroblastic tumor in the breast with the imaging findings of mammography, magnetic resonance imaging (MRI), and pathologic findings to improve the understanding of the disease. The patient was treated by surgical operation, and was followed up for 44 months, no local recurrence and distant metastasis.
Multimodality imaging evaluation of primary testicular extranodal natural killer/T-cell lymphoma: two case reports
Authors: Wenpeng Huang, Xiaonan Liu, Liming Li, Yongbai Zhang, Yuan Gao, Jianbo Gao, Lei Kang
Journal: Front Med (Lausanne) (2023)
Keywords: 18f-fdg pet/ct, case report, computed tomography, magnetic resonance imaging, natural killer/t-cell lymphoma, testis
MeSH terms: Case Reports

Background:
Extranodal natural killer/T-cell lymphoma (ENKTCL) is a distinct pathological entity and accounts for ~10% of T-cell lymphomas. The histological features of ENKTCL include angiodestruction and coagulative necrosis and the association with EBV infection. ENKTCL is typically aggressive and mainly affects the nasal cavity and nasopharyngeal region. However, some patients can present with distant nodal or extranodal involvement such as the Waldeyer ring, gastrointestinal tract, genitourinary organs, lung, thyroid, skin, and testes. Compared to ENKTCL of nasal type, primary testicular ENKTCL is very rare and has a lower age of onset and faster clinical progression, with tumor cell dissemination occurring early in the disease.
Case report:
Case 1: A 23-year-old man presented with 1 month of right testicular pain and swelling. Enhancement CT revealed increased density in the right testis, uneven increased enhancement, discontinuity of the local envelope, and multiple trophoblastic vessels in the arterial phase. Testicular ENKTCL was diagnosed by post-operative pathology. The patient underwent a follow-up 18F-FDG PET/CT imaging 1 month later and found elevated metabolism in the bilateral nasal, left testicular, and right inguinal lymph nodes. Unfortunately, the patient received no further treatment and died 6 months later. Case 2: A 2-year-old male child presented with an enlarged right testicle, MRI showed a mass in the right epididymis and testicular area, which showed low signal on T1WI, high signal on T2WI and DWI, and low signal on ADC. Meanwhile, CT showed soft tissue in the lower lobe of the left lung and multiple high-density nodules of varying sizes in both lungs. Based on the post-operative pathology, the lesion was diagnosed with primary testicular ENKTCL. The pulmonary lesion was diagnosed as hemophagocytic lymphohistiocytosis associated with EBV infection. The child was given SMILE chemotherapy, but pancreatitis was induced during chemotherapy, then he died 5 months later after chemotherapy.
Conclusion:
Primary testicular ENKTCL is very rare in clinical practice, typically presenting as a painful testicular mass, which can mimic inflammatory lesions and cause diagnostic challenges. 18F-FDG PET/CT plays pivotal roles in the diagnosis, staging, evaluation of treatment outcomes and prognosis evaluation in patients with testicular ENKTCL, and it is helpful to assist clinical practice to better formulate individualized treatment plans.
Pericardial Relapse of Acute Lymphoblastic Leukemia (ALL)
Authors: Diana V Maslov, Ambuga Badari
Journal: Case Rep Oncol Med (2021)
MeSH terms: Case Reports

Acute lymphoblastic leukemia (ALL) is a neoplasm of the B cell or T cell. Diagnosis is made by peripheral blood smear and bone marrow biopsy. Those with relapse/measurable residual disease (MRD) present with fever, weakness, fatigue, and easy bruising due to bone marrow infiltration (Kantarjian et al., 2017). A 59-year-old male with history of relapsed acute lymphoblastic leukemia and allogeneic stem cell transplant presented to the Emergency Department (ED) multiple times with shortness of breath. 2D Echo revealed recurrent pericardial effusion. His MRD was discovered in the pericardium. He underwent the creation of a pericardial window with cytology and culture which confirmed B cell lymphoblastic leukemia/lymphoma, consistent with relapsed disease. We present a case of a patient with B-ALL and MRD who presented with symptoms of shortness of breath. His MRD was discovered not in the bone marrow, but in the pericardium.
Co-registration of Sequential Multidetector Computed Tomography Studies for the Evaluation of Surgical Instrumentation following Resection of Spinal Tumors
Authors: J Matthew Debnam, T Linda Chi, Leena Ketonen, Yasser M M Mahfouz, Nandita Guha-Thakurta
Journal: Case Rep Radiol (2011)
MeSH terms: Case Reports

Surgical resection of spinal tumors involves complex reconstructive procedures. The stability and integrity of the surgical construct are evaluated with multidetector computed tomography (MDCT). As coregistration, or fusion, of different imaging modalities, especially positron emission tomography/computed tomography (PET/CT), is common practice, we sought to determine if this technique could be applied to sequential, postoperative MDCT studies of the spine. Herein, we demonstrate that by utilizing the Hermes workstation, co-registration of MDCT spine studies can be performed. This technique allows sequential MDCT examinations of the post-operative spine to be viewed together as one study and may aid in evaluation of the position and integrity of the surgical construct over time. Further study and refinement of this technique will be necessary before clinical implementation.
Group A Streptococcus Septic Shock after Surgical Abortion: A Case Report and Review of the Literature
Authors: Stephanie C Tardieu, Elizabeth Schmidt
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

Group A Streptococcus (GAS) causing puerperal sepsis is a leading cause of maternal mortality worldwide. Although rare, GAS infection is a relatively significant public health concern because of its propensity to evolve rapidly into septic shock, streptococcal toxic shock syndrome, and death. We report the case of a 27-year-old patient who presented with GAS septic shock after undergoing a surgical termination of pregnancy and was treated successfully and recovered without sequelae. GAS septic shock should always be included in the differential diagnosis of any patient who develops sepsis after a surgical abortion. Patients with GAS septic shock have a rapid clinical decline and need aggressive fluid management, early initiation of broad-spectrum antibiotics, and rapid surgical intervention.