OpenMed/multicare-articles huggingface dataset:
Chromothripsis: Basis of a Concurrent Unusual Association between Myelodysplastic Syndrome and Primary Ciliary Dyskinesia
Authors: Abhinav Agrawal, Anar Modi, Sayee Sundar Alagusundaramoorthy, Wael Ghali
Journal: Case Rep Hematol (2014)

A 20 year old male was initially diagnosed suffering from Primary ciliary dyskinesia with symptoms of bronchiectasis, severe frontal, maxillary and ethmoid sinus disease. At the age of 20, the patient was also diagnosed with Myelodysplastic syndrome requiring Bone marrow transplant due to the advanced stage at time of presentation. Primary ciliary dyskinesia and Myelodsyplastic syndrome are both rare clinical conditions found in the general population, especially in young adults. This rare combination of disorders has never been reported in literature to the best of the author's knowledge. The presence of an advanced cancer and a genetic abnormality due to two deletions occurring in two arms of the same chromosome can be explained on the base of chromothripsis. A number of evidences have been published in the literature, about multiple deletions in chromosome 5 and advanced stages of MDS being associated with chromothripsis however this is the first case report on two deletions in chromosome 7 giving rise to two different clinical entities requiring multiple modes of management.
Case report: Early-onset Parkinson's disease with initial spastic paraparesis and hyperreflexia caused by compound heterozygous PRKN-gene exon 2 and 4 deletions
Authors: Ida Jensen, Corinna Hendrich, Martin Klietz, Georg Berding, Günter U Höglinger, Florian Wegner
Journal: Front Neurol (2022)
Keywords: prkn-gene, prkn2, parkin, case report, early onset parkinson's disease (eopd), exon 2, exon 4, young onset parkinsonism
MeSH terms: Case Reports

Pathogenic variants in the Parkin-gene (PRKN) are among the most common genetic causes of early onset Parkinson's disease (EOPD). Patients with EOPD can present with atypical clinical features and misdiagnosis is frequent. Here, we report a clinical phenotype with atypical signs and symptoms of a 35-year-old male patient with EOPD caused by a compound heterozygous PRKN-gene deletion of exons 2 and 4. After the initial diagnosis of stiff person syndrome, the patient was admitted to our department for a second opinion after 8 years of untreated disease progression. The patient presented with prominent spastic paraparesis pronounced on the right side and hyperreflexia as well as Parkinsonism with rigidity predominantly affecting the upper limbs, bradykinesia, and resting tremor. In the diagnostic assessment, magnetic evoked potentials to the anterior tibial muscles showed a low amplitude on the right side, compatible with pyramidal tract disturbance. However, an MRI of the head and the spine did not show any pathologies or atrophy. A [123I] FP-CIT SPECT scan revealed profoundly and left-pronounced reduced striatal uptake suggesting a neurodegenerative Parkinson's syndrome. Even though an acute levodopa challenge did not show marked improvement of symptoms, the chronic levodopa challenge with up to 450 mg/day significantly reduced the rigidity and bradykinesia. Surprisingly, spastic paraparesis and hyperreflexia diminished under dopaminergic treatment. Finally, genetic analysis by next-generation sequencing via copy number variant analysis (CNV) and multiplex ligation-dependent probe amplification (MLPA) confirmed compound heterozygous deletions of exons 2 and 4 in the PRKN-gene. As presented in this case, the awareness of atypical clinical symptoms of EOPD is essential to prevent misdiagnosis in young patients.
Benign Multicystic Peritoneal Mesothelioma: A Rare Condition in an Uncommon Gender
Authors: Muhammad S Khurram, Hamadullah Shaikh, Uqba Khan, Jacob Edens, Warda Ibrar, Ameer Hamza, Awais Zaka, Roohi Bano, Tarik Hadid
Journal: Case Rep Pathol (2017)
MeSH terms: Case Reports

Benign Multicystic Peritoneal Mesothelioma (BMPM) is a rare condition that arises from the abdominal peritoneum. Fewer than 200 cases have been reported worldwide. BMPM usually affects premenopausal women and is extremely rare in men. Many factors are suspected to contribute to its development, such as previous surgery, endometriosis, and familial Mediterranean fever. The main management is surgical resection; however, it is estimated that the recurrence rate is up to 50%. Malignant transformation is rare. We report a case series of three male patients who were diagnosed with BMPM and were treated with cytoreductive surgery and hyperthermic intraperitoneal chemotherapy (HIPEC).
Local recurrence of renal cell carcinoma successfully treated with fusion imaging-guided percutaneous thermal ablation
Authors: Nicola Camisassi, Giovanni Mauri, Paolo Della Vigna, Guido Bonomo, Gianluca Maria Varano, Daniele Maiettini, Franco Orsi
Journal: Ecancermedicalscience (2020)
Keywords: fusion imaging, imaging-guided ablation, radiofrequency ablation, renal cell carcinoma recurrence
MeSH terms: Case Reports

Image-guided thermal ablations are increasingly applied in the treatment of renal cancers, under the guidance of ultrasound (US) or computed tomography (CT). Fusion imaging allows exploitation of the strengths of all imaging modalities simultaneously, eliminating or minimising the weaknesses of every single modality. We present a case of a 68-year-old patient treated using US/CT fusion imaging to guide radiofrequency ablation for local recurrence of renal cell carcinoma undetectable by ultrasound.
Peritonitis caused by rupture of infected retroperitoneal teratoma
Authors: Yogesh Kumar Sarin
Journal: APSP J Case Rep (2012)
Keywords: infected teratoma, mature teratoma, peritonitis, retroperitoneal teratoma
MeSH terms: Case Reports

Retroperitoneal teratomas are usually asymptomatic, though there have been isolated reports of retroperitoneal teratomas presenting as intra-abdominal abscesses and peritonitis in adults. A 7-year-old girl who had presented with acute abdomen due to ruptured retroperitoneal teratoma is reported.
Adenocarcinoma arising from chronic perianal crohn's disease: a case report
Authors: Hanane Massit, Meryem Edderai, Rachida Saouab, Hassan Seddik, Jamal El Fenni, Ahmed Benkirane
Journal: Pan Afr Med J (2015)
Keywords: crohn′s disease, perianal disease, perineal adenocarcinoma
MeSH terms: Adenocarcinoma / etiology, Crohn Disease / complications, Rectal Fistula / etiology, Rectal Neoplasms / etiology, Case Reports, Adenocarcinoma / pathology, Adenocarcinoma / therapy, Adult, Chemoradiotherapy, Adjuvant / methods, Fatal Outcome, Humans, Male, Rectal Fistula / pathology, Rectal Neoplasms / pathology, Rectal Neoplasms / therapy, Recurrence, Time Factors

Malignant transformation of perineal fistula in Crohn's disease has rarely been reported. We report a case of Crohn's disease with recurrent perineal fistulas. A 36-year-old male, diagnosed with Crohn's disease at the age of 24, developed adenocarcinoma in an anorectal fistula that had existed for years. He was treated with adjuvant chemoradiotherapy but died. A high index of suspicion and regular surveillance is recommended in chronic anorectal fistulas in Crohn's disease. The shorter duration of Crohn's fistulas prior to malignant degeneration necessitates an aggressive approach to rule out cancer.
Case report: Rosai-Dorfman disease with rare extranodal lesions in the pelvis, heart, liver and skin
Authors: Misaki Yoshida, Takeshi Zoshima, Satoshi Hara, Yoshinori Takahashi, Ryo Nishioka, Kiyoaki Ito, Ichiro Mizuhima, Dai Inoue, Satoko Nakada, Mitsuhiro Kawano
Journal: Front Oncol (2023)
Keywords: rosai-dorfman disease, cervical lymphadenopathy, extranodal lesion, fever of unknown origin, histiocytosis
MeSH terms: Case Reports

Rosai-Dorfman disease (RDD), a rare form of non-Langerhans cell histiocytosis, can involve systemic extranodal lesions. Skin lesions are the most common, whereas intrapelvic, cardiac, and hepatic lesions are infrequent. The present study describes a 74-year-old woman with multiple extranodal lesions in the pelvis, heart, liver, and skin that were successfully treated with glucocorticoid therapy. She had experienced fever and persistent inflammation without cervical lymphadenopathy for several months and 18F-fluorodeoxyglucose (FDG) positron emission tomography (PET) showed abnormal FDG uptake in the left cheek; cervical, axillary, inguinal lymph nodes; periatrium; and pelvis. She was diagnosed with RDD based on skin and pelvic biopsies. Although this was an atypical case without bilateral cervical lymphadenopathy, the FDG-PET detection of inflammatory lesions led to selection of suitable biopsy sites, and pathological examination led to a correct diagnosis. Findings in this patient indicate that RDD can present with an atypical distribution of infrequent extranodal lesions, with attention required to prevent a delayed diagnosis.
Cell-Free DNA Profiling to Discover Mechanisms of Exceptional Response to Cabozantinib Plus Panitumumab in a Patient With Treatment Refractory Metastatic Colorectal Cancer
Authors: Jingquan Jia, Michael A Morse, Rebecca J Nagy, Richard B Lanman, John H Strickler
Journal: Front Oncol (2018)
Keywords: met amplification, cabozantinib, cell-free dna, ctdna, metastatic colorectal cancer
MeSH terms: Case Reports

MET amplification is rare in treatment-naïve metastatic colorectal cancer (CRC) tumors, but can emerge as a mechanism of resistance to anti-EGFR therapies. Preclinical and clinical data suggest that patients with MET amplified tumors benefit from MET-targeted therapy. Cabozantinib is an inhibitor of multiple tyrosine kinases, included c-MET. Panitumumab is an inhibitor of EGFR. This report describes a patient with KRAS, NRAS, and BRAF wild-type metastatic CRC who experienced disease progression on all standard chemotherapy and anti-EGFR antibody therapy. The patient was enrolled in a clinical trial evaluating the combination of cabozantinib plus panitumumab. After only 6 weeks of treatment, the patient experienced a significant anti-tumor response. Although tumor tissue was negative for MET amplification, molecular profiling of cell-free DNA (cfDNA) revealed MET amplification. This case represents the first report showing the activity of cabozantinib in combination with panitumumab in a patient with metastatic CRC, and suggests that MET amplification in cfDNA may be a biomarker of response. A clinical trial targeting MET amplified metastatic CRC is currently underway.
Use of right ventricular support with a centrifugal pump in post-valve surgery right ventricular failure: a case series
Authors: Abdol Rasoul Moulodi, Gholam Reza Sheibat Zadeh, Feridoun Sabzi
Journal: J Tehran Heart Cent (2014)
Keywords: cardiac surgical procedures • ventricular dysfunction, left • heart-assist devices
MeSH terms: Case Reports

The optimal treatment method for right ventricular failure after valve surgery complicated by a low cardiac output has not been determined, although several case reports have been published on patients with ventricular failure and arrhythmia who were bridged to cardiac transplantation using biventricular or left ventricular assist devices. This case series illustrates successful circulatory support of 4 patients with prolonged low cardiac outputs and right ventricular failure and arrhythmias after valvular heart surgery with or without severe pulmonary hypertension. In-hospital death occurred in one patient and 3 patients were discharged from the hospital with good general condition. At two years' follow-up, 2 patients were in functional class one but another patient underwent laparotomy for multiple splenic abscesses and died from multiple organ failure.
ORBITAL CELLULITIS IN PULMONARY TUBERCULOSIS: A CASE REPORT
Authors: Ni Made Inten Lestari, Susy Fatmariyanti, Hendrian D Soebagjo, Neneng Dwi Kurniati, Delfitri Lutfi
Journal: Afr J Infect Dis (2020)
Keywords: extended spectrum β-lactamases, orbital cellulitis, pulmonary tuberculosis

Background:
Orbital cellulitis in immunocompetent patients with pulmonary tuberculosis (TB) is rare or unheard of. If left untreated, patients might lose their sight and potentially their life. This case describes orbital cellulitis due to extended spectrum β-lactamases (ESBLs)-producing bacteria in a patient with pulmonary tuberculosis.
Materials and methods:
We report the case of a 47-year-old man referred to the emergency room in our hospital with swollen and painful right eye and face for 8 days. On admission, the patient condition was drowsy, pale, and feverish. Visual acuity of the right eye was only light perception with limited eye movement in all directions. The CT scan showed orbital sub-tissue swelling and sub-periosteal abscess on the upper lateral orbital wall. On day 5, pus culture was confirmed as extended spectrum β-lactamases (ESBLs) producing bacteria and Ziehl-Neelson staining test revealed acid fast bacillus with pulmonary inflammation highly pathognomonic of tuberculosis.
Results:
The patient showed significant clinical improvement on day 11. The patient was discharged on the day 15 in stable general condition with improved visual acuity on the right eye (capable of capturing hand movement).
Conclusion:
ESBL producing bacteria associated orbital cellulitis in tuberculosis patient potentially elevated the morbidity and possibly result in severe loss of visual acuity. Early diagnosis and treatment could reverse this comorbidity and produce a better outcome for affected patients.
Melanotic medullary carcinoma of thyroid--report of a rare case with brief review of literature
Authors: Kamaljeet Singh, Mehar C Sharma, Deepali Jain, Rajinder Kumar
Journal: Diagn Pathol (2008)

Background:
Melanin production in medullary carcinoma is extremely uncommon.
Case presentation:
We report a rare variant of medullary carcinoma of thyroid with melanin production in a 52-year-old woman who presented with swelling in the thyroid of 3 months duration. This tumor recurred thrice in two years after surgery and patient died with metastasis. Microscopic examination showed typical morphology of medullary carcinoma with numerous cells loaded with melanin pigment as confirmed by bleached Fontana-Masson, negative iron and immunohistochemical stains. Tumor cells were diffusely immunopositive for calcitonin, HMB-45, chromogranin, synaptophysin, CEA but showed focal paranuclear dot positivity for cytokeratin. No C-cell hyperplasia was seen in the adjacent thyroid gland. Nature of the pigment was further confirmed on ultra structural examination.
Conclusion:
Melanotic medullary carcinoma is an extremely uncommon entity. There is a need to report more number of cases in the literature for exact categorization and prognostication of this subtype of medullary carcinoma.
International public health research involving interpreters: a case study from Bangladesh
Authors: Emma Pitchforth, Edwin van Teijlingen
Journal: BMC Public Health (2005)
MeSH terms: Emergency Service, Hospital / standards, Obstetrics / standards, Patient Acceptance of Health Care / psychology, Qualitative Research, Researcher-Subject Relations, Translating, Research Support, Non-U.S. Gov't, Adolescent, Adult, Bangladesh, Communication Barriers, Female, Hinduism, Humans, Interviews as Topic, Islam, Organizational Case Studies, Patient Acceptance of Health Care / ethnology, Public Health

Background:
Cross-cultural and international research are important components of public health research, but the challenges of language barriers and working with interpreters are often overlooked, particularly in the case of qualitative research.
Methods:
A case-study approach was used to explore experiences of working with an interpreter in Bangladesh as part of a research project investigating women's experiences of emergency obstetric care.
The case study:
Data from the researcher's field notes provided evidence of experiences in working with an interpreter and show how the model of interviewing was adapted over time to give a more active role to the interpreter. The advantages of a more active role were increased rapport and "flow" in interviews. The disadvantages included reduced control from the researcher's perspective. Some tensions between the researcher and interpreter remained hard to overcome, irrespective of the model used. Independent transcription and translation of the interviews also raised questions around accuracy in translation.
Conclusion:
The issues examined in this case study have broader implications for public health research. Further work is needed in three areas: 1) developing effective relationships with interpreters; 2) the impact of the interpreter on the research process; and 3) the accuracy of the translation and level of analysis needed in any specific public health research. Finally, this paper highlights the importance to authors of reflecting on the potential impact of translation and interpretation on the research process when disseminating their research.
Managing Recurrent Clozapine-Induced Constipation in a Patient with Resistant Schizophrenia
Authors: Silviu Tomulescu, Kim Uittenhove, Reda Boukakiou
Journal: Case Rep Psychiatry (2021)
MeSH terms: Case Reports

Clozapine is an effective antipsychotic for the treatment of resistant schizophrenia. However, clozapine can lead to serious side effects. One of the most common side effects is constipation and in rare cases ileus, which is associated with a considerable case fatality rate. Our patient exhibited repeated episodes of ileus while being treated with clozapine. We adapted the treatment of the patient in several ways to manage these severe side effects. First, we reduced clozapine dosage by opting for an augmentation strategy of clozapine through paliperidone. Then, we added linaclotide as a nonconventional laxative. We further adapted treatment after the occurrence of a volvulus prompting surgical intervention which revealed a malformation of the intestines' peritoneal attachment. A gastrostomy to facilitate the treatment of any further episode was performed and bethanechol was introduced alongside linaclotide. Follow-up revealed the efficacy of our strategy involving the use of linaclotide in managing the side effects of clozapine in this patient.
Prenatal Diagnosis of Pulmonary Atresia With Ventricular Septal Defect and an Aberrant Ductus Arteriosus in a Dextrocardia by Two- and Three-Dimensional Echocardiography: A Case Report
Authors: Lulu Liang, Yu Wang, Ying Zhang
Journal: Front Med (Lausanne) (2022)
Keywords: 3d, aberrant ductus arteriosus, dextrocardia, fetus, pulmonary atresia with ventricular septal defect
MeSH terms: Case Reports

Introduction:
Prenatal diagnosis of pulmonary atresia is difficult in relative, especially when the pulmonary artery is slim and hypoplastic in development. It is of great importance to search for the blood supply to the pulmonary artery in those fetuses while it challenges most screening sonographers, even fetal echocardiography specialists. We herein report a rare case of pulmonary atresia with ventricular septal defect, complicated with an aberrant ductus arteriosus which provides the blood supply to the pulmonary artery. Besides, the case was also accompanied by cardiac malposition, dextrocardia with situs solitus. The echocardiographic characteristics and autopsy findings are also presented to approach the skill of fetal diagnosis.
Case presentation:
A 30-year-old primigravida woman was referred to our center at gestational age of (24 ± 3) weeks for further fetal cardiac examination for suspected fetal cardiac anomalies. Fetal echocardiography revealed dextrocardia, situs solitus of the atria, an L-ventricular loop, a ventricular septal defect, an enlarged coronary sinus, and pulmonary atresia by transverse scanning. The ductus arteriosus was not present at the three-vessel trachea view with the retrograde flow showing in the pulmonary artery trunk, which suggested the possibility of an aberrant ductus arteriosus. Sagittal and coronal scanning was attempted to find that the pulmonary artery connected with the innominate artery via the aberrant ductus arteriosus. Three-dimensional echocardiography with spatio-temporal image correlation and high-definition flow imaging technique was performed to obtain the three-dimensional rendered image, which clearly showed the malformation in space. The pregnancy was terminated and the gross findings confirmed the prenatal diagnosis.
Conclusion:
A detailed evaluation of fetal cardiac anatomy and hemodynamics is crucial for the detection of an aberrant ductus arteriosus, which plays an important role in the diagnosis of pulmonary atresia with ventricular septal defect. Sagittal and coronal scanning is useful to find the course of this aberrant ductus arteriosus. The three-dimensional echocardiography with spatio-temporal image correlation technique could provide additional spatial information to show great arteries in detail, which can serve as a supplement to traditional two-dimensional modality and benefit examiners to make an accurate diagnosis.
Improving brain computer interface research through user involvement - The transformative potential of integrating civil society organisations in research projects
Authors: Bernd Carsten Stahl, Kutoma Wakunuma, Stephen Rainey, Christian Hansen
Journal: PLoS One (2017)
MeSH terms: Brain-Computer Interfaces, Community Participation, Organizations, Humans, Public Health, Qualitative Research, Research Design

Research on Brain Computer Interfaces (BCI) often aims to provide solutions for vulnerable populations, such as individuals with diseases, conditions or disabilities that keep them from using traditional interfaces. Such research thereby contributes to the public good. This contribution to the public good corresponds to a broader drive of research and funding policy that focuses on promoting beneficial societal impact. One way of achieving this is to engage with the public. In practical terms this can be done by integrating civil society organisations (CSOs) in research. The open question at the heart of this paper is whether and how such CSO integration can transform the research and contribute to the public good. To answer this question the paper describes five detailed qualitative case studies of research projects including CSOs. The paper finds that transformative impact of CSO integration is possible but by no means assured. It provides recommendations on how transformative impact can be promoted.
Neoplasia in Cri du Chat Syndrome from Italian and German Databases
Authors: Andrea Guala, Marianna Spunton, Silvia Kalantari, Ingo Kennerknecht, Cesare Danesino
Journal: Case Rep Genet (2017)
MeSH terms: Case Reports

Cri du Chat syndrome (CdC) is a chromosomal abnormality (deletion of short arm of chromosome 5) associated with intellectual disability and typical anatomical abnormalities. Research up to now focuses on the management of the disease during childhood. The longer lifespan of these patients warrants deeper investigations of how and if aging could be affected by the syndrome. We decided to focus on the association of the disease with proliferative disorders. Data on proliferative disorders in a cohort of 321 patients from Italian and German Cri du Chat databases were collected. A neoplasia was present in four patients (age 10-50 yrs), and a fifth patient developed a cholesteatoma during childhood. It is of interest that two cases had an early onset of the neoplasia as compared to the expected age of development in the general population. The chromosome region deleted in 5p does not contain genes whose haploinsufficiency is a well-known main cause of the proliferative disorders observed. We nonetheless believe that reporting even sporadic cases of proliferative disorders in CdC patients may increase our knowledge as to the natural history of the disease. In conclusion, available information suggests that surveillance for cancer development in CdC can follow the guidelines for the general population.