OpenMed/multicare-articles huggingface dataset:
Native Valve Endocarditis due to Veillonella Species: A Case Report and Review of the Literature
Authors: Lakshmi Saladi, Cosmina Zeana, Manisha Singh
Journal: Case Rep Infect Dis (2017)
MeSH terms: Case Reports

Veillonella species are fastidious bacteria that have been isolated from skin, dental, and respiratory tract infections and rarely have been implicated in serious infections like meningitis, endocarditis, and osteomyelitis. A 76-year-old woman presented to our hospital with fever, vomiting, and generalized weakness for 3 days. A transthoracic echocardiogram showed a mobile structure on anterior mitral valve leaflet measuring 0.9 cm suggestive of vegetation. Empiric therapy with vancomycin and piperacillin-tazobactam was started with clinical resolution of her symptoms. On day 6, the blood culture drawn at admission grew Veillonella species. A transesophageal echocardiogram confirmed a 1.2 × 0.4 cm echo dense structure attached to the left ventricular side of the anterior mitral leaflet. The patient was discharged home after 10 days of inpatient antibiotic therapy and completed 4 weeks of IV ceftriaxone at home without any adverse events. She was reevaluated in the clinic after completion of treatment and repeat blood cultures remained negative. We report the first case of successful treatment of endocarditis due to Veillonella species with once daily ceftriaxone.
Multiple Chromoanasynthesis in a Rare Case of Sporadic Renal Leiomyosarcoma: A Case Report
Authors: Kirill Igorevich Anoshkin, Kristina Olegovna Karandasheva, Kristina Mikhaylovna Goryacheva, Denis Valer'yevich Pyankov, Philipp Aleksandrovich Koshkin, Tatiana Vladimirovna Pavlova, Alexandr Nikolaevich Bobin, Evgeniy Valer'yevich Shpot, Yaroslav Nikolayevich Chernov, Andrei Zinov'yevich Vinarov, Dmitry Vladimirovich Zaletaev, Sergei Ivanovich Kutsev, Vladimir Viktorovich Strelnikov
Journal: Front Oncol (2020)
Keywords: mdm2, ngs, chromoanagenesis, chromoanasynthesis, chromosomal instability, leiomyosarcoma, microarray, renal
MeSH terms: Case Reports

We present the genetic profile of kidney giant leiomyosarcoma characterized by sequencing of 409 cancer related genes and chromosomal microarray analysis. Renal leiomyosarcomas are extremely rare neoplasms with aggressive behavior and poor survival prognosis. Most frequent somatic events in leiomyosarcomas are mutations in the TP53, RB1, ATRX, and PTEN genes, chromosomal instability (CIN) and chromoanagenesis. 67-year-old woman presented with a right kidney completely replaced by tumor. Immunohistochemical reaction on surgical material was positive to desmin and smooth muscle actin. Molecular genetic analysis revealed that tumor harbored monosomy of chromosomes 3 and 11, gain of Xp (ATRX) arm and three chromoanasynthesis regions (6q21-q27, 7p22.3-p12.1, and 12q13.11-q21.2), with MDM2 and CDK4 oncogenes copy number gains, whereas no copy number variations (CNVs) or tumor specific single nucleotide variants (SNVs) in TP53, RB1, and PTEN genes were present. We hypothesize that chromoanasynthesis in 12q13.11-q21.2 could be a trigger of observed CIN in this tumor.
Genetic polymorphisms of dihydropyrimidinase in a Japanese patient with capecitabine-induced toxicity
Authors: Masahiro Hiratsuka, Hiroshi Yamashita, Fumika Akai, Hiroki Hosono, Eiji Hishinuma, Noriyasu Hirasawa, Takahiro Mori
Journal: PLoS One (2015)
MeSH terms: Amidohydrolases / genetics, Antineoplastic Agents / adverse effects, Asian People / genetics, Capecitabine / adverse effects, Colonic Neoplasms / drug therapy, Polymorphism, Single Nucleotide, Case Reports, Research Support, Non-U.S. Gov't, Adult, Aged, Amidohydrolases / deficiency, Antineoplastic Agents / administration & dosage, Capecitabine / administration & dosage, Codon, Nonsense, Colonic Neoplasms / genetics, Colonic Neoplasms / surgery, Colonic Neoplasms / urine, Female, Humans, Japan, Male, Middle Aged, Mutation, Missense, Pedigree, Uracil / urine, Antineoplastic Agents, Codon, Nonsense, Uracil, Capecitabine, Amidohydrolases, dihydropyrimidinase

Dihydropyrimidinase (DHP) is the second enzyme in the catabolic pathway of uracil, thymine, and chemotherapeutic fluoropyrimidine agents such as 5-fluorouracil (5-FU). Thus, DHP deficiency might be associated with 5-FU toxicity during fluoropyrimidine chemotherapy. We performed genetic analyses of the family of a patient with advanced colon cancer who underwent radical colectomy followed by treatment with 5-FU prodrug capecitabine and developed severe toxicity attributable to a lack of DHP. We measured urinary uracil and dihydrouracil, and genotyped DPYS in the patient and her family. We also measured the allele frequency of DPYS polymorphisms in 391 unrelated Japanese subjects. The patient had compound heterozygous missense and nonsense polymorphisms comprising c.1001A>G (p.Gln334Arg) in exon 6 and c.1393C>T (p.Arg465Ter) in exon 8, which are known to result in a DHP enzyme with little or no activity. The urinary dihydrouracil/uracil ratio in the patient was 17.08, while the mean ± SD urinary dihydrouracil/uracil ratio in family members who were heterozygous or homozygous for wild-type DPYS was 0.25 ± 0.06. In unrelated subjects, 8 of 391 individuals were heterozygous for the c.1001A>G mutation, while the c.1393C>T mutation was not identified. This is the first report of a DHP-deficient patient with DPYS compound heterozygous polymorphisms who was treated with a fluoropyrimidine, and our findings suggest that polymorphisms in the DPYS gene are pharmacogenomic markers associated with severe 5-FU toxicity in Japanese patients.
High-Energy Transsyndesmotic Ankle Fracture Dislocation: A Case Report and Systematic Literature Review
Authors: Yinshuan Deng, Chenhui Dong, Xiaojie Yang, Rui Liu, Feiyi Hou, Shensong Li, Kanglai Tang
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

High-energy trauma can cause transsyndesmotic ankle fracture dislocation. These fractures are quite rare. Here we present a clinical case of a male patient with this type of injury. A systematic review of PubMed, Ovid MEDLINE, and Embase electronic databases revealed only two prior publications on a similar topic. We discuss the typical clinical features of these injuries, the treatment of high-energy trauma which can cause transsyndesmotic ankle fracture dislocation, and its prognosis.
Heart Transplantation in a 14-Year-Old Boy in the Presence of Severe Out-of-Proportion Pulmonary Hypertension due to Restrictive Left Heart Disease: A Case Report
Authors: Martin Schwienbacher, Ulrich Schweigmann, Nikolaus Neu, Elisabeth Schermer, Corinna Velik-Salchner, Ina Michel-Behnke, Erentraud Irnberger, Christina Maria Steger, Jörg Ingolf Stein, Ralf Geiger
Journal: Case Rep Cardiol (2013)

A 14-year-old boy after balloon valvuloplasty of severe aortic valve stenosis in the neonatal period was referred for heart-lung transplantation because of high grade pulmonary hypertension and left heart dysfunction due to endocardial fibroelastosis with severe mitral insufficiency. After heart catheterization, hemodynamic parameters were invasively monitored: a course of levosimendan and initiation of diuretics led to a decrease of pulmonary capillary wedge pressure (from maximum 35 to 24 mmHg). Instead of an expected decrease, mean pulmonary artery pressures (mPAP) increased up to 80 mmHg with increasing transpulmonary pressure gradient (TPG) up to 55 mmHg. Oral bosentan and intravenous epoprostenol then led to a ~50% decrease of mPAP (TPG between 16 and 22 mmHg). The boy was listed solely for heart transplantation which was successfully accomplished 1 month later.
Gastroblastoma in Adulthood-A Rarity among Rare Cancers-A Case Report and Review of the Literature
Authors: Giovanni Centonze, Alessandro Mangogna, Tiziana Salviato, Beatrice Belmonte, Laura Cattaneo, Melissa Anna Teresa Monica, Giovanna Garzone, Cecilia Brambilla, Alessio Pellegrinelli, Flavia Melotti, Adele Testi, Valentina Monti, Ketevani Kankava, Patrizia Gasparini, Gianpaolo Dagrada, Vincenzo Mazzaferro, Christian Cotsoglou, Paola Collini, Giancarlo Pruneri, Massimo Milione
Journal: Case Rep Pathol (2019)
MeSH terms: Case Reports

Gastroblastoma (GB) is a rare gastric epithelial-mesenchymal neoplasm, first described by Miettinen et al. So far, all reported cases described the tumor in children or young adults, and similarities with other childhood blastomas have been postulated. We report a case of GB in a 43-year-old patient with long follow up and no recurrence up to 100 months after surgery. So far, this is the second case of GB occurring in the adult age >40-year-old. Hence, GB should be considered in the differential diagnosis of microscopically comparable conditions in adults carrying a worse prognosis and different clinical approach.
Bone marrow transplant-associated thrombotic microangiopathy without peripheral blood schistocytes: a case report and review of the literature
Authors: Eric Wirtschafter, Christine VanBeek, Yuliya Linhares
Journal: Exp Hematol Oncol (2018)
Keywords: allogeneic hematopoietic stem cell transplant (hsct), case report, eculizumab, thrombotic microangiopathy (tma), transplant-associated thrombotic microangiopathy (ta-tma)
MeSH terms: Case Reports

Background:
Bone marrow transplant-associated thrombotic microangiopathy (TA-TMA) is a relatively frequent but under-recognized and under-treated hematopoietic stem cell transplant (HSCT) complication that leads to significant post-transplant morbidity and mortality. Classic TMA-defining laboratory abnormalities appear at different times in the course of TA-TMA development, with schistocytes often appearing later in the disease course. In some severe TMA cases, schistocytes may be absent due to increased endothelial permeability. Unfortunately, many clinicians continue to perceive the presence of schistocytes as an absolute requirement for TA-TMA diagnosis, which leads to delayed recognition and treatment of this potentially fatal transplant complication.
Methods:
Patient chart review and PubMed literature search using the term, "transplant-associated thrombotic microangiopathy".
Case presentation:
A 54-year-old male IgG kappa multiple myeloma underwent a reduced intensity allogeneic HSCT from a 9/10 HLA-matched unrelated donor after conditioning with fludarabine and melphalan. On day + 27, the patient developed acute kidney injury followed by repeated episodes of diarrhea and gastrointestinal bleeding attributed to graft versus host disease (GVHD) and cytomegalovirus (CMV) colitis. Repeated colonic biopsies suggested CMV infection and GVHD. Despite appropriate treatment with antiviral therapy and immunosuppressants, the patient's condition continued to deteriorate. He experienced concomitant anemia and thrombocytopenia as well as elevated lactate dehydrogenase and low haptoglobin levels, but a TA-TMA diagnosis was not made due to an absence of schistocytes on peripheral smear. The patient expired secondary to uncontrolled gastrointestinal bleeding. A post-mortem analysis of the resection specimen revealed extensive TMA involving numerous arteries and arterioles in the ileal and colonic submucosa as well as in the muscularis propria and deep lamina propria of the mucosa.
Conclusions:
TA-TMA can occur in the absence of peripheral blood schistocytes. Our experience underscores the importance of considering the diagnosis of intestinal TA-TMA in patients with refractory post-transplant diarrhea and GI bleeding, even if all classic features are not present.
An Unexpected Case of Black Mamba ( Dendroaspis polylepis) Bite in Switzerland
Authors: Verena Quarch, Lukas Brander, Luca Cioccari
Journal: Case Rep Crit Care (2017)
MeSH terms: Case Reports

Mambas (genus Dendroaspis) are among the most feared venomous African snakes. Without medical treatment, mamba bites are frequently fatal. First-aid treatment includes lymphatic retardation with the pressure immobilization technique. Medical management comprises continuous monitoring, securing patency of the airway, ensuring adequate ventilation, symptomatic measures, and administration of specific antivenin. We report an unusual case of a snake breeder bitten by a black mamba in Switzerland, report the clinical course, and review the lifesaving emergency management of mamba bites. This case highlights the importance of early antivenin administration and suggests that emergency and critical care physicians as well as first responders all around the world should be familiar with clinical toxinology of exotic snake bites as well as with the logistics to most rapidly make the specific antivenin available.
Community-acquired Escherichia coli meningitis with ventriculitis in an adult-a rare case report
Authors: Rajesh Kasimahanti, Sai Kandraju Satish, Mridu Anand
Journal: J Intensive Care (2018)
Keywords: csf leak, community-acquired meningitis, e coli, ventriculitis
MeSH terms: Case Reports

Background:
Community-acquired gram-negative bacillary meningitis is rare to occur without preexisting conditions like trauma, organ dysfunction, and immunocompromised state, and very few case reports with Escherichia coli have been described in literature till now. Presence of ventriculitis along with meningitis makes the incidence further sparse.
Case presentation:
A review of literature identified a total of only 45 community-acquired E. coli meningitis from 1945 till to date. Here, we have described a case of community-acquired E. coli meningitis with ventriculitis in an adult with past history of completely repaired CSF leak secondary to trauma nearly 23 years ago, without current radiological evidence of persistent CSF leak and therefore described as spontaneously acquired. Post-contrast T1 images of MRI were suggestive of subtle ependymal enhancement of ventricles, and patient was treated in lines of ventriculitis. Initial CSF was suggestive of acute pyogenic meningitis, and the organism grown was pan-sensitive E. coli. Patient was treated with antibiotics according to the culture sensitivity pattern and was given a prolonged course of 6 weeks of antibiotic therapy in view of ventriculitis.
Conclusion:
Community-acquired E. coli meningitis with possible ventriculitis in adults is described as a rare entity and is likely to be underrated and under-recognized.
Why Is Rehabilitation Assistance Policy for Children With Disabilities Deviated in Supply-Demand? A Case Study in Mainland China
Authors: Cai Yun Qi, Yuan Wang
Journal: Front Public Health (2021)
Keywords: exclusion error, inclusion error, policy context, rehabilitation assistance system for disabled children, supply-demand deviation
MeSH terms: Disabled Children, Research Support, Non-U.S. Gov't, Child, China, Humans, Policy, Rehabilitation Centers

Children with disabilities have most potential for salvage rehabilitation, and their rehabilitation results are concerned with their entire life process. Although, the Chinese state has established a targeted Rehabilitation Assistance System for Disabled Children and has expanded the provision of rehabilitation services, a severe deviation between supply and demand remains. Existing studies have focused relatively more on policy content and less on the policy context, at the macro-structural level. However, using the case of the ZW Rehabilitation Center in City J, this study divided the deviation into exclusion errors and inclusion errors, and used the policy context approach to explore the reasons for the deviation. We found that the behaviors of the participants in rehabilitation services exist in a dynamic interaction between the regulatory context, the normative context, and the cognitive context. The joint forces of the three contexts produce both exclusion errors and inclusion errors, which are the underlying reasons for the inaccurate execution of the targeted policy. The results of this research can provide enlightenment for improving rehabilitation policy.
De Novo Collapsing Glomerulopathy: An Unusual Cause of Early Graft Failure following Kidney Transplantation
Authors: Kalathil K Sureshkumar, Imran Dosani, Katherine M Jasnosz, Swati Arora
Journal: Case Rep Transplant (2011)
MeSH terms: Case Reports

Collapsing glomerulopathy (CG) is a variant of focal segmental glomerulosclerosis (FSGS) characterized histologically by prominent glomerular capillary tuft collapse with hypertrophy and hyperplasia of podocytes and tubulointerstitial damage. Patients usually present with heavy proteinuria and rapidly progressive renal failure. We report a patient who developed de novo CG with severe clinical manifestations including worsening renal failure and nephrotic syndrome within six months of receiving deceased donor kidney transplant. Secondary work-up was negative, and despite therapy with high-dose steroids and plasmapheresis, allograft function rapidly deteriorated with the need for dialysis. Theories about the pathogenesis of this entity as well as treatment modalities are discussed.
Case Report: Nine-year-old with parathyroid adenoma within the piriform sinus
Authors: Anna Zenno, Bhavishya Ramamoorthy, Dima A Hammoud, Martha Quezado, Martha A Zeiger, Smita Jha
Journal: Front Endocrinol (Lausanne) (2023)
Keywords: heritable hyperparathyroidism, hypercalcemia, hyperparathyroidism in children, parathyroid adenomas, parathyroid hormone
MeSH terms: Hypercalcemia / diagnosis, Hyperparathyroidism, Parathyroid Neoplasms / complications, Parathyroid Neoplasms / diagnostic imaging, Parathyroid Neoplasms / surgery, Pyriform Sinus / pathology, Case Reports, Research Support, N.I.H., Intramural, Calcium, Child, Female, Humans, Parathyroid Glands / diagnostic imaging, Parathyroid Glands / pathology, Parathyroid Glands / surgery, Calcium

We present the case of a 9-year-old girl who presented with symptomatic hypercalcemia from primary hyperparathyroidism (PHPT). Laboratory results revealed elevated serum calcium 12.1 mg/dl (ref: 9.1-10.4), elevated ionized calcium 6.8 (ref: 4.5-5.6) mg/dl, phosphorus 3.8 (ref: 3.3-5.1) mg/dl, 25-OH vitamin D 20.1 (30-100) ng/ml, and elevated intact PTH 70 (15-65) pg/ml, consistent with the diagnosis of PHPT. She had persistent hyperparathyroidism after bilateral neck exploration, left thyroid lobectomy, and transcervical thymectomy. Neither inferior gland was identified. No parathyroid tissue was seen on histology. Repeat preoperative imaging identified a 7-mm × 5-mm adenoma on 4DCT not seen on 99Tc-sestamibi parathyroid scan. The patient then underwent a successful redo parathyroidectomy with removal of a submucosal left parathyroid adenoma at the superior aspect of the thyroid cartilage in the piriform sinus. Her biochemical work-up remains consistent with surgical cure 6 months after surgery. Herein, we also review common locations for ectopic parathyroid adenomas.
Clinical trial registration:

NCT04969926.
Atypical Case of VV1 Creutzfeldt-Jakob Disease Subtype: Case Report
Authors: Adrianna E Carrasco, Brian S Appleby, Ignazio Cali, Hamid R Okhravi
Journal: Front Neurol (2022)
Keywords: creutzfeldt-jakob disease, hashimoto's thyroiditis, vv1 type, dementia, real-time quaking-induced conversion
MeSH terms: Case Reports

Creutzfeldt-Jakob disease (CJD) is a rare form of rapidly progressive, neurodegenerative disease that results from the misfolding and accumulation of an aberrant, disease-associated prion protein (PrPD). CJD affects 1-1.5 cases per million per year with the sporadic-type accounting for an estimated 85% of these cases. Sporadic CJD (sCJD) is further subdivided into five subtypes based on genetic polymorphisms; the rarest subtype, sCJDVV1, occurs at a rate of 1 case per one-hundredth million population per year. Clinical characteristics of the sCJDVV1 subtype have been reported to show, early age of onset (44 years), average disease duration of 21 months, absent PSWCs on electroencephalography (EEG), and MRI hyperintensities in the cerebral cortex with usual negative signal in the basal ganglia or thalamus. We present a case of the sCJDVV1 subtype with uncommon features. Contrary to current data on sCJDVV1, our patient presented with an unusual age at onset (61 years) and longer disease duration (32 months). The highly sensitive and specific real-time quaking-induced conversion (RT-QuIC) assay was negative. Presenting clinical symptoms included paranoid thoughts and agitation, rapidly progressive memory decline, prosopagnosia, and late development of myoclonus and mutism. Other findings showed positive antithyroid peroxidase antibodies (anti-TPO), and absent PSWCs on EEG. High-dose steroid therapy treatment was administered based on positive anti-TPO findings, which failed to elicit any improvement and the patient continued to decline. To our knowledge, only four cases with the sCJDVV1 subtype, including our patient, have been reported to have a negative result on RT-QuIC. This may suggest varied sensitivity across sCJD subtypes. However, given the rarity of our patient's subtype, and the relatively novel RT-QuIC, current data are based on a small number of cases and larger cohorts of confirmed VV1 cases with RT-QuIC testing need to be reported.
Biopsychosocial approaches to a patient with vomiting of 10 years' duration--a case of temporal lobe epilepsy
Authors: Hiromi Mutsuura, Mikihiko Fukunaga, Kenji Kanbara, Takami Yagyu, Kazumi Yamamoto, Kana Kitamura, Ikumi Ban, Yoshihide Nakai
Journal: Biopsychosoc Med (2009)

Background:
Vomiting is commonly encountered in clinical medicine. When organic gastrointestinal, metabolic, and brain diseases are ruled out, many cases are considered to be functional. We experienced an adult patient with epilepsy whose main symptom was vomiting. Biopsychosocial approaches were needed to control the symptoms.
Case presentation:
A 26-year-old female with a 10-year history of persistent vomiting was found to have temporal lobe epilepsy (TLE). Throughout this time, during which the vomiting had become part of a vicious cycle, her epilepsy was poorly controlled by medication. Biopsychosocial approaches were employed successfully and the patient subsequently undertook training to become a home-helper, started a job, and was able to leave her parents' house and live independently. All of her symptoms resolved after she became self-sufficient.
Discussion:
Vomiting without impaired consciousness is seldom considered to be a manifestation of epilepsy. Difficulty in recording an electroencephalogram (EEG) because of the presence of persistent vomiting delayed the diagnosis. The improvement of symptoms was thought to have been due to the patient's emotional stabilization and physical improvement, which may have stabilized the limbic system.
Conclusion:
When an illness persists for many years and conditioning and a vicious cycle occur secondarily, systematic biopsychosocial approaches are needed in addition to general treatment. Also, secondary symptoms make the diagnosis more difficult when efforts at treatment are ineffective.