OpenMed/multicare-articles huggingface dataset:
Clinical and Diagnostic Considerations for Atypical, Adult Onset Presentation of Chronic Recurrent Multifocal Osteomyelitis (CRMO)
Authors: Stacey Mahady, Amit Ladani
Journal: Case Rep Rheumatol (2019)
MeSH terms: Case Reports

Chronic recurrent multifocal osteomyelitis (CRMO) is the most severe form of chronic nonbacterial osteomyelitis (CNO) and is a rare autoinflammatory bone disorder that mostly affects children and adolescents. CRMO is a diagnosis of exclusion, resulting in often-delayed diagnosis with over one year on average from onset of symptoms to time of diagnosis. Initial diagnosis is rare in adults and previously undocumented in the elderly (age greater than 65). We highlight a case of a 74-year-old elderly Caucasian female with a history of palmoplantar pustular psoriasis who presented with pelvic and hip pain. Imaging findings included multiple bony lesions on x-rays, increased uptake in the left side of the pelvis, ileum, proximal sternum, and bilateral medial clavicles on nuclear bone scan. Bone biopsy histologic results of marrow fibrosis and plasma cell infiltrate indicative of chronic inflammation lead to the diagnosis of CRMO. This case highlights that while CRMO is typically a disease with childhood onset, it, while rare, can also present in adults and now has presented in the elderly, remaining an important part of the differential diagnosis of bone pain in adults and the elderly in addition to infectious osteomyelitis and malignancy when imaging reveals multiple bony lesions. This in turn will facilitate the reduction of unnecessary medical treatment and antibiotics.
Patient-Matched 3-D-Printed Guides for the Insertion of Cervical Pedicle Screws in Tumor Surgery
Authors: C-E Heyde, G Osterhoff, Spiegl Uja, A Völker, N H von der Höh, J S Jarvers
Journal: Case Rep Surg (2021)
MeSH terms: Case Reports

Background:
Pedicle screw fixation in the cervical spine provides biomechanical advantages compared to other stabilization techniques. However, pedicle screw insertion in this area is challenging due to the anatomical conditions with a high risk of breaching the small pedicles and violating the vertebral artery or neural structures. Today, several techniques to facilitate screw insertion and to make the procedure safer are used. 3-D-printed patient-matched guides based on a CT reconstruction are a helpful technique which allows to reduce operation time and to improve the safety of pedicle screw insertion at the cervical spine.
Cases:
3-D-printed patient-matched drill guides based on a CT scan with a 3-D reconstruction of the spine were used in two challenging cervical spine surgical tumor cases to facilitate the implantation of the pedicle screws. The screw position was controlled postoperatively by means of the routinely performed CT scan.
Results:
Postoperative imaging (conventional radiographs and CT scan) revealed the correct position of the pedicle screws. The time needed for screw insertion was short, and the need for intraoperative fluoroscopy could be reduced. There was no intra- or postoperative complication related to the pedicle screw implantation. Both tumors could be removed completely.
Conclusion:
These preliminary results show that 3-D-printed patient-specific guides are a promising tool to support and facilitate the implantation of cervical pedicle screws. The time needed for insertion is short, and intraoperative fluoroscopy time can be reduced. This technique allows for both a meticulous preoperative planning and a correct and therefore safe intraoperative positioning of cervical spine pedicle screws.
Inverted Papilloma Originating Primarily from the Nasolacrimal Duct: A Case Report and Review of the Pertinent Literature
Authors: Hussein Z Walijee, Sandeep Berry, Stuart Quine, Carol Lane, Daniel S Morris, Benedict Bowman
Journal: Case Rep Otolaryngol (2015)

Introduction. Inverted papilloma (IP) is an uncommon, benign yet aggressive neoplasm characterised by high recurrence rates and tendency towards malignant transformation. The majority of IP cases originate in the ethmoid region, lateral wall of the nasal fossa, and maxillary sinus. The authors report a case of an IP originating primarily from the nasolacrimal duct (NLD). Case. A 69-year-old Caucasian gentleman presented with a lump in his right medial canthal region, epiphora, and discharge bilaterally. Radiological investigation revealed a well-defined, heterogeneous mass within the proximal NLD eroding the bony canal, protruding into the middle meatus and into the right orbit. The tumour was excised en bloc utilizing a combined external and endoscopic approach based on its location. Histology revealed hyperplastic ribbons of basement membrane-enclosed epithelium growing endophytically into the underlying stroma with no evidence of invasive malignancy. The patient made an uneventful recovery with unchanged visual acuity and normal extraocular movements. Conclusion. The case demonstrates variability within the sinonasal tract that IP can develop and the individuality of each case necessitating tailored operative techniques for complete excision whilst minimising recurrence rates. We also present a combined endoscopic approach for the en bloc resection of a NLD IP with no clinical recurrence at 15-month follow-up.
Stevens-Johnson Syndrome following Failure of Genetic Screening prior to Carbamazepine Prescription
Authors: Suraya Ahmad Nasir, Huann Lan Tan, Hui Jan Tan, Haizal Mohd Hussaini, Roszalina Ramli
Journal: Case Rep Dent (2017)
MeSH terms: Case Reports

Failure to screen susceptible individuals for human leucocyte allele B∗1502 leads to the onset of Stevens-Johnson syndrome (SJS). We report a case of a 27-year-old Malay female who was treated with carbamazepine following the diagnosis of trigeminal neuralgia without a genetic screening. She was prescribed 150 mg of carbamazepine initially and the dose was increased to 300 mg following the initial dose. A sudden development of skin and mucous membrane ulcers was observed and this warranted immediate hospitalization. A diagnosis of SJS was made and she was treated immediately with intravenous corticosteroids. Genetic screening prior to carbamazepine prescription is essential especially in susceptible populations.
Hypertrophic Osteoarthropathy Associated with Probable Smear-Negative Pulmonary Tuberculosis
Authors: Mohamed Ahmed Ghassem, Abdelhamid Biyi, Julien H Djossou, Toufik Hamza, Abderrahim Majjad, Lahsen Achemlal
Journal: Case Rep Rheumatol (2022)
MeSH terms: Case Reports

Association of hypertrophic osteoarthropathy (HOA) with pulmonary tuberculosis is rarely reported, especially with smear-negative pulmonary tuberculosis (SNPT), in which its diagnosis is a challenge. We used a systematic approach to analyze all relevant literature reviews, and we identified only two cases of HOA associated with pulmonary tuberculosis in the last 10 years. We report the case of a 36-year-old man who presented with bilateral symmetric polyarthralgia and digital clubbing. Laboratory exams associated elevated acute phase reactants with negative immunological examinations. Two series of three acid-fast Bacillus (AFB) smear microscopy in sputum, separated by 15 days of broad-spectrum antibiotic therapy, were negative. A sputum culture was negative for Mycobacterium tuberculosis. A chest X-ray and computed tomography (CT) showed an apical pulmonary cavity. Plain X-ray and bone scintigraphy revealed periostosis of the tubular bones. Therefore, the diagnosis of HOA associated with probable SNPT was made. HOA symptoms had remitted after 3 months of antitubercular therapy. After 7 months of treatment, chest CT and bone scintigraphy showed a regression of the pulmonary cavity and disappearance of periostosis. The search for tuberculosis in front of any HOA seems to be justified in our epidemiological context.
The Occurrence of Richter's Syndrome during Treatment with Obinutuzumab and Chlorambucil
Authors: Teng Fong Ng, Benedict Carnley, Celia Green, Dominic Spagnolo, Michael F Leahy
Journal: Case Rep Hematol (2020)
MeSH terms: Case Reports

Chronic lymphocytic leukaemia is a slow-growing leukaemia of developing B-lymphocytes, which may transform to an aggressive lymphoma known as Richter's syndrome. While Richter's syndrome can present in untreated or relapsed-refractory cases, it may occur upon the commencement of less intensity treatment regimens. We present a case of Richter's syndrome following treatment with chlorambucil and obinutuzumab and review of available literature on the topic.
Erdheim-Chester disease presenting at the central nervous system
Authors: Sydney Fasulo, Mina Fransawy Alkomos, Rovena Pjetergjoka, Erinie M Mekheal, Sharon Awasthi, Sahithi Chittamuri, Vinod Kumar, Mehandar Kumar, Amer Akmal, Michael Maroules
Journal: Autops Case Rep (2021)
Keywords: erdheim-chester disease, and cerebellar neoplasms, non-langerhans cell histiocytosis
MeSH terms: Case Reports

Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis (LCH) that affects different body systems. It was recently recognized as a neoplastic disorder after identifying an activating mutation of the MAPK pathway. Neurological presentations of ECD are rare. We present a case of a 35-year-old male who presented to the emergency department with neck pain, headache and vomiting for 2 months; MRI showed multiple heterogeneous intracranial masses. Neurosurgery performed a suboccipital craniotomy, partially resected the cerebellar mass, and placed a parietal to frontal shunt catheter. Biopsy results from the cerebellar mass demonstrated cerebellar tissue involved by a diffuse proliferation of foamy histiocytes and spindle cells admixed with prominent lymphoplasmacytic infiltrate and positive for CD68, CD163, Factor XIIIa and Fascin. PET scan showed hypermetabolic uptake within the medullary portions of the diffuse abnormal lesions of the distal femurs, tibias, and fibulas, and cardiac MRI was nonsignificant. The patient was started on vemurafenib and continued to show improvement in a 3-month outpatient follow-up.
Synchronous Gastric Adenocarcinoma and Diffuse Large B-Cell Lymphoma in the Pelvis: A Rare Case Presentation
Authors: Evangelia Pliakou, Dimitra-Ioanna Lampropoulou, Nikolaos Soupos, Gerasimos Aravantinos
Journal: Case Rep Gastrointest Med (2022)
MeSH terms: Case Reports

Multiple primary cancer (MPC) is defined as more than one primary tumour diagnosed at the same patient, either simultaneously or sequentially. Its incidence is low and varies in reporting among medical centers. Diffuse large B-cell lymphoma (DLBCL) is the most common subtype of non-Hodgkin lymphoma (NHL) while gastric cancer (GC) is the fifth most frequently diagnosed malignancy. The aim of this article is to present a rare case of a female patient who was diagnosed with two synchronous malignancies, an adenocarcinoma of the stomach (SRCC) and an aggressive extranodal NH lymphoma (DLBCL) within 2 months. Given the fact that there is an expanding availability of more sensitive diagnostic and screening methods, we aim to increase surveillance amongst medical doctors and provide valuable information for further systematic analysis and identification of such rare cases of concurrent malignancies.
Neoplasm of a supernumerary undescended testis: A case report and review of the literature
Authors: Hamza Boussaffa, Sahbi Naouar, Nidhal Ati, Mohamed Amri, Badereddine Ben Khelifa, Braiek Salem, Rafik El Kamel
Journal: Int J Surg Case Rep (2018)
Keywords: case report, neoplasm, supernumerary testis, undescended testis

Introduction:
Polyorchidism, defined as the presence of more than two testicles, is a rare congenital abnormality of the male genital tract. There is no consensus regarding the management of supranumerary testis (SNT) due to its rareness. To the best of our knowledge, this is the first report of leiomyoma in SNT.
Presentation of case:
We report the case of a 41-year-old man with two right testes sharing a common vas deferens and separate epididymides. Orchiectomy of right testes was performed. Pathology examination found that the superior testis was the site of a leiomyoma and the lower tesits was the site of an intratubular germ cell neoplasia (IGCN). Orchiopexy and biopsy were later performed for the left testis. Histology was compatible with IGCN. We opted for follow-up to avoid risks of hypogonadism.
Discussion:
Polyorchidism is usually asymptomatic and found incidentally during surgery for inguinal hernia, undescended testes as in our case, torsion, hydrocele or testicular tumor. If the SNT is scrotal, and there is no other indication for surgery, most authors recommend conservative management with regular ultrasound follow-up. If nonscrotal SNT is found incidentally during surgery, orchiectomy could be performed because of increased risk of malignancy. Treatment of IGCN includes surveillance, orchiectomy, or low-dose external radiation.
Conclusion:
Different factors come into account for polyorchidsm management: the drainage system, the fertile potential of the supernumerary gonad, and its localization. In cases of uncomplicated polyorchidism, a conservative treatment, with US or MRI follow-up seems to be a rational choice without surgical complications.
Diagnosis and Management of Cornu Cutaneum of Nasal Vestibule: A Rare Case Report
Authors: Hande Ezerarslan, Mustafa Mert Basaran, Sefik Halit Akmansu
Journal: Case Rep Med (2015)

Cornu cutaneum is a relatively uncommon projectile, irregular, hyperkeratotic nodule that can be seen in places such as scalp, forehead, eyelids, ear, nose, lips, and upper extremities which are subjectable to sunlight. Treatment is surgery with radical margins. Excisional biopsy is enough for treatment of the lesion on head and face. However, there is only little literature about cornu cutaneum on the nasal vestibule. We present an 82-year-old male patient with a necrotic, irregular shaped lesion with pedicle on the left nasal vestibule excised and diagnosed as cornu cutaneum.
Diagnostic Dilemma in Appendiceal Mucormycosis: A Rare Case Report
Authors: Sali Priyanka Akhilesh, Yadav Kamal Sunder, Pande Prasad, George Mary Asha, Agarwal Mohan, Mehta Hitesh
Journal: Case Rep Surg (2016)

Appendiceal mucormycosis is a rare life-threatening infection seen in immunocompromised patients. It is usually seen in chemotherapy induced neutropenia in patients with hematological malignancies. Clinically, the symptoms and signs may be masked due to ongoing corticosteroids. The condition may mimic bacterial appendicitis and the less serious condition, typhlitis. The disease demands prompt surgical debulking and aggressive antifungal treatment. However, surgery is delayed due to the poor performance status and severe neutropenia. This may lead to perforative peritonitis and further dissemination. The survival rates of such disease are dismal. Unfortunately, the diagnosis may be confirmed only on histological examination of the surgically excised tissue. Very few cases have been reported so far. We present here once such a fatal case of appendiceal mucormycosis in a 14-year-old boy who was immunosuppressed due to intensive induction therapy for Acute Myeloblastic Leukemia.
Successful COVID-19 rescue therapy by extra-corporeal membrane oxygenation (ECMO) for respiratory failure: a case report
Authors: Michael S Firstenberg, Philip F Stahel, Jennifer Hanna, Chakradhar Kotaru, Joseph Crossno Jr, Joseph Forrester
Journal: Patient Saf Surg (2020)
Keywords: covid-19, coronavirus, extra-corporeal membrane oxygenation, lung injury, remdesivir treatment, sars-cov-2
MeSH terms: Case Reports

Background:
The value of extracorporeal membrane oxygenation (ECMO) for patients suffering from novel coronavirus disease 2019 (COVID-19) as a rescue therapy for respiratory failure remains controversial and associated with high mortality rates of 50 to 82% in early reports from Wuhan, China. We hypothesized that patient outcomes would be improved at our tertiary cardiothoracic surgery referral center with a protocolized team-approach for ECMO treatment of patients with severe COVID-19 disease.
Case presentation:
A 51-year-old healthy female developed severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) bilateral pneumonia while vacationing in Colorado with her family. She was transferred to our facility for a higher level of care. Her respiratory status continued to deteriorate despite maximized critical care, including prone positioning ventilation and nitric oxide inhalation therapy. Veno-venous ECMO was initiated on hospital day 7 in conjunction with a 10-day course of compassionate use antiviral treatment with remdesivir. The patient's condition improved significantly and she was decannulated from ECMO on hospital day 17 (ECMO day 11). She was successfully extubated and eventually discharged to rehabilitation on hospital day 28.
Conclusion:
This case report demonstrates a positive outcome in a young patient with COVID-19 treated by the judicious application of ECMO in conjunction with compassionate use antiviral treatment (remdesivir). Future prospective multi-center studies are needed to validate these findings in a larger cohort of patients.
Validity Beyond Measurement: Why Psychometric Validity Is Insufficient for Valid Psychotherapy Research
Authors: Femke L Truijens, Shana Cornelis, Mattias Desmet, Melissa M De Smet, Reitske Meganck
Journal: Front Psychol (2019)
Keywords: empirical case study, epistemic validity, evidence-based case study, evidence-based treatment, psychotherapy research, validity, validity or research

In psychotherapy research, "validity" is canonically understood as the capacity of a test to measure what is purported to measure. However, we argue that this psychometric understanding of validity prohibits working researchers from considering the validity of their research. Psychotherapy researchers often use measures with a different epistemic goal than test developers intended, for example when a depression symptom measure is used to indicate "treatment success" (cf. outcome measurement for evidence-based treatment). However, the validity of a measure does not cover the validity of its use as operationalization of another target concept within a research procedure, nor the validity of its function toward an epistemic goal. In this paper, we discuss the importance of considering validity of the epistemic process beyond the validity of measures per se, based on an empirical case example from our psychotherapy study ("SCS", Cornelis et al., 2017). We discuss why the psychometric understanding of validity is insufficient in covering epistemic validity, and we evaluate to what extent the available terminology regarding validity of research is sufficient for working researchers to accurately consider the validity of their overall epistemic process. As psychotherapy research is meant to offer a sound evidence-base for clinical practice, we argue that it is vital that psychotherapy researchers are able to discuss the validity of the epistemic choices made to serve the clinical goal.
Postpartum pneumomediastinum: an uncommon cause for chest pain
Authors: Vladimir Revicky, Paul Simpson, David Fraser
Journal: Obstet Gynecol Int (2010)
MeSH terms: Case Reports

This case report refers to a 32-year-old primiparous woman with a mild asthma, who had a normal vaginal delivery in a birthing pool and developed an acute postpartum chest pain due to pneumomediastinum and subcutaneous chest emphysema. After 72 hours of observation, she was discharged home without any residual symptoms.
Recurrence of Left Ventricular Outflow Tract Obstruction Requiring Alcohol Septal Ablation after Transcatheter Aortic Valve Implantation
Authors: Hideki Kitahara, Kaoru Mastuura, Atsushi Sugiura, Akiko Yoshimura, Takahiro Muramatsu, Yusaku Tamura, Takashi Nakayama, Yoshihide Fujimoto, Goro Matsumiya, Yoshio Kobayashi
Journal: Case Rep Cardiol (2018)
MeSH terms: Case Reports

Left ventricular outflow tract (LVOT) obstruction is sometimes observed in patients with severe aortic stenosis (AS). It is still controversial how to manage the remaining severe AS, when LVOT obstruction is well-controlled by medical therapy. We report a case with acute recurrence of LVOT obstruction requiring emergent alcohol septal ablation (ASA) after transcatheter aortic valve implantation (TAVI), even in a stable state on beta-blockers. For the ASA procedure, transesophageal echocardiography was useful to clearly observe the perfusion area of the target septal branch by injecting microbubble contrast. Since it took some time to cause the recurrence of LVOT obstruction in this case, careful evaluation should be done after TAVI in high-risk patients for LVOT obstruction before terminating the TAVI procedure.
Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene
Authors: Magdalena Klaniewska, Maria Jedrzejowska, Malgorzata Rydzanicz, Justyna Paprocka, Mateusz Biela, Ewelina Wolanska, Agnieszka Pollak, Emilia Debek, Maria Sasiadek, Rafal Ploski, Monika Gos, Robert Smigiel
Journal: Front Genet (2021)
Keywords: daipt, piezo2, arthrogryposis, heterozygous mutation, impaired proprioception and touch
MeSH terms: Case Reports

PIEZO2 protein is a unique ion channel that converts mechanical impulses into cellular signals in somatosensory neurons and is involved in various mechanotransduction pathways. The recessive PIEZO2 loss-of-function pathogenic variants are associated with distal arthrogryposis with impaired proprioception and touch (DAIPT). Here we present three new DAIPT patients. The genetic diagnosis was established by exome sequencing and let us to identify 6 novel loss-of-function PIEZO2 variants: four splicing (c.1080+1G>A, c.4092+1G>T, c.6355+1G>T, and c.7613+1G>A), one nonsense (c.6088C>T) and one frameshift variant (c.6175_6191del) for which mosaic variant was identified in proband's mother. All patients presented typical symptoms at birth, with congenital contractures, bilateral hip dislocation/dysplasia, generalized hypotonia, transient feeding and difficulties. Two were afflicted by transient respiratory insufficiency. In all children motor development was severely delayed. In one patient, severe cognitive delay was also observed. Moreover, among the cases described by us there is the youngest diagnosed child to date.
Primary Adenosquamous Carcinoma of the Prostate with Rectal Invasion
Authors: Pierre Azzi, Dominique Bossé, Ilias Cagiannos, Paul Borowy-Borowski, David Tiberi
Journal: Case Rep Urol (2022)
MeSH terms: Case Reports

Prostate adenosquamous carcinoma (pASC) is a rare form of prostate cancer accounting for <1% of all cases. It is generally considered an aggressive variant often presenting with significant symptom burden and/or metastatic disease. Given its rarity, optimal management of this cancer is unknown. We present a case of a patient with pASC treated with radiotherapy and chemotherapy with excellent symptomatic improvement and local control.
Posterior reversible encephalopathy syndrome in the emergency department: case series and literature review
Authors: Ryan J Thompson, Brian Sharp, Jeffery Pothof, Azita Hamedani
Journal: West J Emerg Med (2015)
MeSH terms: Emergency Service, Hospital, Magnetic Resonance Imaging, Posterior Leukoencephalopathy Syndrome / diagnosis, Case Reports, Review, Aged, Fatal Outcome, Female, Humans, Middle Aged

Introduction:
Posterior Reversible Encephalopathy Syndrome (PRES) often has variable presentations and causes, with common radiographic features-namely posterior white matter changes on magnetic resonance (MRI). As MRI becomes a more frequently utilized imaging modality in the Emergency Department, PRES will become an entity that the Emergency Physician must be aware of and be able to diagnose.
Case report:
We report three cases of PRES, all of which presented to the emergency department of a single academic medical center over a short period of time, including a 53-year-old woman with only relative hypertension, a 69-year-old woman who ultimately died, and a 46-year-old woman who had a subsequent intraparenchymal hemorrhage.
Conclusion:
PRES is likely much more common than previously thought and is a diagnosis that should be considered in a wide variety of emergency department patient presentations.