OpenMed/multicare-articles huggingface dataset:
Diagnostic and Treatment Challenges of Paroxysmal Nocturnal Hemoglobinuria in Uganda
Authors: Boniface Amanee Elias Lumori, Daniel Muyanja
Journal: Case Rep Hematol (2019)
MeSH terms: Case Reports

Introduction:
Paroxysmal nocturnal hemoglobinuria (PNH) is a very rare disorder of the hematopoietic stem cells which is often underdiagnosed. Its incidence is about 5 cases per million inhabitants in a year, and currently, there are only 1610 patients in the International PNH Registry. In this report, we describe a case of PNH in southwestern Uganda.
Case presentation:
A 34-year-old man, subsistence farmer, with a history of multiple prior presentations with anemia, jaundice, and dark-colored urine requiring blood transfusions presented to us again in July 2018 with a week's history of palpitations, dizziness, and dark-colored urine. Investigations done suggested a direct antiglobulin test- (DAT-) negative hemolytic anemia, and subsequently, flow cytometry showed a large clone of PNH. He received many blood transfusions and hematinics on several occasions during the course of his admissions.
Conclusions:
Our report showed diagnostic and treatment challenges of PNH in health resource-limited setting.
Rhabdomyolysis and acute renal impairment in a patient with hypothyroidism: a case report
Authors: Arshi Naz, Mayada Issa
Journal: Case Rep Med (2014)

We report the case of a 33-year-old male with hypothyroidism who developed acute renal impairment with rhabdomyolysis after strenuous physical activity (snow shoveling). His thyroid function test confirmed marked hypothyroidism. Severe elevation of serum CK consistent with rhabdomyolysis was noted and an elevated creatinine indicated acute renal impairment. Patient's condition improved significantly after starting him on thyroid hormone replacement therapy and aggressive hydration. Acute renal impairment with rhabdomyolysis in patients with hypothyroidism is quite rare and we expect that this case report adds to the existing literature on this subject. We also emphasize that thyroid status should be evaluated in patients with unexplained acute renal impairment and presenting with the symptoms of muscle involvement.
Laparoscopic treatment of a rare right diaphragmatic rupture with small bowel herniation after blunt thoracic trauma
Authors: H Hoffmann, D Oertli, O Heizmann
Journal: Minim Invasive Surg (2010)
MeSH terms: Case Reports

Blunt traumatic diaphragmatic rupture (BTDR) is a life-threatening condition with an incidence from 0,8%-1,6% in blunt trauma, mostly located on the left side. The main prognostic factors are severe side injuries and the delay of diagnosis. We present a rare case of a 68-year-old female, with an isolated right diaphragm rupture. The diagnosis was done with a delay of 4 days by thoracic radiographs, which showed a herniation of small bowel into the right thoracic cavity. A reposition of the small bowel and a closure of the diaphragmatic defect by running suture were carried out laparoscopicly. Although large prospective studies concerning the outcome of laparoscopic approach to right BTDR are still missing, we could show, that laparoscopy can be performed safely in right traumatic diaphragm rupture.
Wolf in sheep's clothes: An uncommon case of pneumonic-type adenocarcinoma
Authors: S D Maasdorp
Journal: Afr J Thorac Crit Care Med (2021)
Keywords: adenocarcinoma, bronchioloalveolar carcinoma, lung cancer, non-resolving pneumonia
MeSH terms: Case Reports

We report a case of a patient who presented with clinical and radiological features of a non-resolving pneumonia. Special investigations and a poor response to antibiotic therapy excluded an infective aetiology. A diagnosis of invasive mucinous adenocarcinoma, previously termed bronchioloalveolar carcinoma, was made from lung biopsy. This case illustrates the challenges of establishing a timely diagnosis of an uncommon pneumonic-type of adenocarcinoma.
Case report of a type III endoleak presenting only decades after endovascular aortic repair
Authors: T S Q Lee, T T Chong, J C C Wang, T C E Choke, T Y Tang
Journal: Int J Surg Case Rep (2019)
Keywords: evar, endoleak, surveillance, type iii

Introduction:
Type III endoleaks are a rare but potentially life-threatening complication post endovascular aortic aneurysm repair (EVAR).
Case report:
A 91-year-old Chinese female, presented to our accident and emergency department for severe back and abdominal pain. She had previously undergone an EVAR procedure twenty years ago for a 6.5 cm diameter infra-renal abdominal aortic aneurysm. A CT aortogram revealed a type III endoleak, with the contralateral limb found to be disconnected from the main graft body. She was successfully treated by relining the graft using an endovascular technique.
Discussion:
The case highlights the need for life-long stent-graft surveillance. We discuss early generation stent-grafts, type III endoleak treatment options and the current long-term data for late EVAR-related complications.
Conclusion:
For patients who had undergone EVAR, type III endoleaks can present only decades later and pose a significant risk of aneurysmal rupture.
Case Report: A Novel COL1A1 Missense Mutation Associated With Dentineogenesis Imperfecta Type I
Authors: Yuting Zeng, Yuhua Pan, Jiayao Mo, Zhiting Ling, Lifang Jiang, Fu Xiong, Wenjuan Yan
Journal: Front Genet (2021)
Keywords: case report, dentin, missense mutation, odontoblasts, type i collagen
MeSH terms: Case Reports

Background: Osteogenesis imperfecta (OI) is a clinical and genetic disorder that results in bone fragility, blue sclerae and dentineogenesis imperfecta (DGI), which is mainly caused by a mutation in the COL1A1 or COL1A2 genes, which encode type I procollagen. Case Report: A missense mutation (c.1463G > C) in exon 22 of the COL1A1 gene was found using whole-exome sequencing. However, the cases reported herein only exhibited a clinical DGI-I phenotype. There were no cases of bone disease or any other common abnormal symptom caused by a COL1A1 mutation. In addition, the ultrastructural analysis of the tooth affected with non-syndromic DGI-I showed that the abnormal dentine was accompanied by the disruption of odontoblast polarization, a reduced number of odontoblasts, a reduction in hardness and elasticity, and the loss of dentinal tubules, suggesting a severe developmental disorder. We also investigated the odontoblast differentiation ability using dental pulp stem cells (DPSCs) that were isolated from a patient with DGI-I and cultured. Stem cells isolated from patients with DGI-I are important to elucidate their pathogenesis and underlying mechanisms to develop regenerative therapies. Conclusion: This study can provide new insights into the phenotype-genotype association in collagen-associated diseases and improve the clinical diagnosis of OI/DGI-I.
Pathologic complete response to chemoimmunotherapy of an advanced gastric cancer patient with high PD-L1 expression, dMMR, and unique gut microbiota composition: A case report
Authors: Hongpeng Jiang, Junyun Wang, Wei Deng
Journal: Front Oncol (2023)
Keywords: mismatch-repair deficiency, advanced gastric cancer, camrelizumab, conversion therapy, pathologic complete response
MeSH terms: Case Reports

Background:
Advanced gastric cancer (AGC) is a malignant disease with limited therapeutic options and a poor prognosis. Recently, immune checkpoint inhibitors (ICIs), represented by inhibitors of programmed cell death 1 (PD-1)/programmed death-ligand 1 (PD-L1), have emerged as a potential gastric cancer (GC) therapy.
Case presentation:
This case study aimed to reveal the tumor response to neoadjuvant chemotherapy combined with camrelizumab in a patient with AGC based on the characteristics of the clinical pathology, genomics variation, and gut microbiome. Samples from a 59-year-old male patient diagnosed with locally advanced unresectable GC (cT4bN2M0, high grade) presenting PD-L1-positive, deficient mismatch repair (dMMR), and highly specific gut microbiota enrichment were subjected to target region sequencing, metagenomic sequencing, and immunohistochemistry staining. The patient received neoadjuvant therapy, including camrelizumab, apatinib, S-1, and abraxane, which eventually promoted dramatic tumor shrinkage without serious adverse effects and allowed subsequent radical gastrectomy and lymphadenectomy. Finally, the patient achieved pathologic complete response (pCR), and the recurrence-free survival time was 19 months at the last follow-up in April 2021.
Conclusions:
The patient with PD-L1-positive, dMMR, and a highly specific gut microbiota enrichment exhibited a pCR to neoadjuvant chemoimmunotherapy.
Bulbar Artery Injury With Bladder Hematoma and Severe Anemia Due to Traumatic Foley Catheter Removal
Authors: Dev P Patel, Guillermo Izquierdo-Pretel
Journal: Cureus (2023)
Keywords: bladder hematoma, bladder trauma, blood loss anemia, foley catheter injury, substance abuse, urological emergency
MeSH terms: Case Reports

This case is described with the aim of informing about the high-level suspicion of bladder or urethral injuries in patients with traumatic Foley removal and their prolonged bleeding that should alert clinicians for a prompt urological intervention. A patient was initially admitted to the ICU with delirium and organ dysfunction due to an overdose of drugs. On the second day of his admission, he unintentionally removed his Foley catheter, which led to a course of gross hematuria. He was managed conservatively. After three weeks of hospitalization and stabilization, his profuse, constant bleeding was finally addressed. CT and ultrasound imaging was performed and revealed that his bladder was at an abnormal size and filled with blood. A cystoscopy and a fulguration of the bulbar artery were completed. Quick relief and recovery were noted after the procedure was finalized.
Transvaginal Resection of a Bladder Leiomyoma Misdiagnosed with a Vaginal Mass: A Case Report and Literature Review
Authors: Fu-Fen Yin, Ning Wang, You-Lin Wang, Xiao-Ning Bi, Xiao-Hui Xu, Yan-Kui Wang
Journal: Case Rep Obstet Gynecol (2015)

Bladder leiomyoma is a rare benign tumor and it could be easily misdiagnosed with many other pelvic diseases, especially obstetrical and gynecological diseases; abdominal, laparoscopic, and transurethral resection of bladder leiomyoma have been reported. Herein, we present a case of bladder leiomyoma misdiagnosed with a vaginal mass preoperatively; the mass was isolated, enucleated from the bladder neck, and removed transvaginally; to the best of our knowledge, this is the first case of intramural leiomyoma of bladder neck that has been enucleated transvaginally only without cystotomy.
A Case Report of Suicide Attempt Caused by Acute and Transient Psychotic Disorder during the COVID-19 Outbreak
Authors: Kai Zhang, Yudong Shi, Huanzhong Liu, Kenji Hashimoto
Journal: Case Rep Psychiatry (2020)
MeSH terms: Case Reports

We reported a case of suicide attempt caused by acute and transient psychotic disorder during the COVID-19 outbreak, which broke out in December 2019 in Wuhan. An epidemic of infectious diseases brought great psychological pressure to the public. During this period, a 20-year-old man went to the hospital repeatedly because he suspected that he was infected, with suspicious auditory hallucinations, self-laughter, primary delusions, victimization delusions, relationship delusions, and suicide attempts. He was diagnosed with Acute Transient Psychotic Disorder. 0.1 g bid Quetiapine was given orally, then gradually increased to 0.4 g per day, supplemented by cognitive therapy. The patient was discharged from hospital in relief of symptoms on February 9th. Conclusion. During the epidemic period, in addition to strengthening the protection work, we should also monitor the mental and psychological state of the population to prevent mental illness caused by coronavirus.
CNS inflammatory demyelinating events after COVID-19 vaccines: A case series and systematic review
Authors: Virginia Rinaldi, Gianmarco Bellucci, Maria Chiara Buscarinu, Roberta Reniè, Antonio Marrone, Martina Nasello, Valeria Zancan, Riccardo Nistri, Roberto Palumbo, Antonio Salerno, Marco Salvetti, Giovanni Ristori
Journal: Front Neurol (2022)
Keywords: adem, covid-19, mogad, nmosd, multiple sclerosis, transverse myelitis, vaccines

Background:
Vaccinations provided the most effective tool to fight the SARS-CoV-2 pandemic. It is now well established that COVID-19 vaccines are safe for the general population; however, some cases of rare adverse events following immunization have been described, including CNS Inflammatory Demyelinating Events (CIDEs). Although observational studies are showing that these events are rare and vaccines' benefits highly outweigh the risks, collecting and characterizing post-COVID-19 vaccine CIDEs might be relevant to single out potential risk factors and suggest possible underlying mechanisms.
Methods:
Here we describe six CIDEs, including two acute transverse myelitis (ATM), three multiple sclerosis (MS), and one neuromyelitis optica spectrum disorder (NMOSD), occurring between 8 and 35 days from a COVID-19 vaccine. Moreover, we performed a systematic literature search of post-COVID-19 vaccines CIDEs, including ATM, ADEM, MS, and NMOSD/MOGAD, published worldwide between December 2020 and December 2021, during 1 year of the vaccination campaign. Clinical/MRI and CSF/serum characteristics were extracted from reviewed studies and pooled-analyzed.
Results:
Forty-nine studies were included in the systematic review, reporting a total amount of 85 CIDEs. Considering our additional six cases, 91 CIDEs were summarized, including 24 ATM, 11 ADEM, 47 MS, and nine NMOSD/MOGAD. Overall, CIDEs occurred after both mRNA (n = 46), adenoviral-vectored (n = 37), and inactivated vaccines (n = 8). Adenoviral-vectored vaccines accounted for the majority of ADEM (55%) and NMOSD/MOGAD (56%), while mRNA vaccines were more frequent in MS new diagnoses (87%) and relapses (56%). Age was heterogeneous (19-88) and the female sex was prevalent. Time from vaccine to symptoms onset was notably variable: ADEM and NMOSD/MOGAD had a longer median time of onset (12.5 and 10 days) compared to ATM and MS (6 and 7 days) and further timing differences were observed between events following different vaccine types, with ATM and MS after mRNA-vaccines occurring earlier than those following adenoviral-vectored ones.
Conclusion:
Both the prevalence of vaccine types for certain CIDEs and the heterogeneity in time of onset suggest that different mechanisms-with distinct dynamic/kinetic-might underly these events. While epidemiological studies have assessed the safety of COVID-19 vaccines, descriptions and pooled analyses of sporadic cases may still be valuable to gain insights into CIDE's pathophysiology.
Treatable brain network biomarkers in children in coma using task and resting-state functional MRI: a case series
Authors: Varina L Boerwinkle, Bethany L Sussman, Jordan Broman-Fulks, Emilio Garzon-Cediel, Kirsten Gillette, William R Reuther, Mark S Scher
Journal: Front Neurol (2023)
Keywords: acute brain injury, case report, cognitive motor dissociation, coma, disorders of consciousness, pediatric, resting state functional mri
MeSH terms: Case Reports

The withdrawal of life-sustaining therapies is frequently considered for pediatric patients with severe acute brain injuries who are admitted to the intensive care unit. However, it is worth noting that some children with a resultant poor neurological status may ultimately survive and achieve a positive neurological outcome. Evidence suggests that adults with hidden consciousness may have a more favorable prognosis compared to those without it. Currently, no treatable network disorders have been identified in cases of severe acute brain injury, aside from seizures detectable through an electroencephalogram (EEG) and neurostimulation via amantadine. In this report, we present three cases in which multimodal brain network evaluation played a helpful role in patient care. This evaluation encompassed various assessments such as continuous video EEG, visual-evoked potentials, somatosensory-evoked potentials, auditory brainstem-evoked responses, resting-state functional MRI (rs-fMRI), and passive-based and command-based task-based fMRI. It is worth noting that the latter three evaluations are unique as they have not yet been established as part of the standard care protocol for assessing acute brain injuries in children with suppressed consciousness. The first patient underwent serial fMRIs after experiencing a coma induced by trauma. Subsequently, the patient displayed improvement following the administration of antiseizure medication to address abnormal signals. In the second case, a multimodal brain network evaluation uncovered covert consciousness, a previously undetected condition in a pediatric patient with acute brain injury. In both patients, this discovery potentially influenced decisions concerning the withdrawal of life support. Finally, the third patient serves as a comparative control case, demonstrating the absence of detectable networks. Notably, this patient underwent the first fMRI prior to experiencing brain death as a pediatric patient. Consequently, this case series illustrates the clinical feasibility of employing multimodal brain network evaluation in pediatric patients. This approach holds potential for clinical interventions and may significantly enhance prognostic capabilities beyond what can be achieved through standard testing methods alone.
Necrobiosis lipoidica diabeticorum
Authors: Andrea Scaramuzza, Maddalena Macedoni, Gian Luca Tadini, Laura De Angelis, Francesca Redaelli, Alessandra Gazzarri, Valentina Comaschi, Elisa Giani, Gian Vincenzo Zuccotti
Journal: Case Rep Pediatr (2012)
MeSH terms: Case Reports

Necrobiosis lipoidica is a rare disorder that usually appears in the lower extremities and it is often related to diabetes mellitus. There are few reported cases of necrobiosis lipoidica in children. We present an interesting case in that the patient developed lesions on the abdomen, which is an unusual location.
Embolization of a Superior Thyroid Artery Hemorrhage after Fine-Needle Aspiration Biopsy of a Thyroid Nodule
Authors: Christopher Gates, Maxwell Newby, William Stokes, SoHyun Boo, Michele Carr
Journal: Case Rep Otolaryngol (2020)
MeSH terms: Case Reports

Fine-needle aspiration biopsy (FNAB) is a procedure completed thousands of times daily across the world as an efficacious and safe way to evaluate thyroid nodules. Complications of an FNAB typically range from patient intolerance to small intrathyroidal hematomas. In rare situations, an FNA may result in significant bleeding leading to airway compromise or significant blood loss. In this case report, a patient underwent an FNAB and developed an arterial bleed leading to an intrathyroidal hematoma and airway compromise requiring intubation. This case report is unique in that it identifies the source of bleeding, exemplifies the complications of a large intrathyroidal hematoma, and describes subsequent treatment of both the arterial bleed and the hematoma.
A Rare Case of Complicated Emphysematous Pyelonephritis
Authors: Solabomi O Ojeniyi, Sai Phani Sree Cherukuri, Olubunmi M Akharume, Philip Kanemo
Journal: Cureus (2023)
Keywords: ct abdomen and pelvis with iv contrast, diabetes, emphysematous pyelonephritis, nephrectomy, nephrostomy tube
MeSH terms: Case Reports

Emphysematous pyelonephritis is an acute severe necrotizing infection of the renal parenchyma and its surrounding tissues that results in the presence of gas in the renal parenchyma, collecting system, or perinephric tissue. The management of emphysematous pyelonephritis mainly depends on the extent of the disease. In this report, we present the case of a 48-year-old male who presented with left flank pain and imaging findings of left-sided emphysematous pyelonephritis with extensions of air into the pararenal space as well as a 5.6 cm bladder stone and severe right-sided hydroureteronephrosis. He initially received bilateral nephrostomy tubes, a left-sided perinephric draining tube, and intravenous antibiotics; however, his symptoms persisted. Ultimately, the patient underwent open cystolitholapaxy and left nephrectomy, with eventual resolution of symptoms.
Segmental Arterial Mediolysis of Omental Arteries with Haemoperitoneum: Case Report with Embolization of the Left Omental Artery and Brief Review of Literature
Authors: Gernot Rott, Frieder Boecker
Journal: Case Rep Radiol (2018)
MeSH terms: Case Reports

Segmental arterial mediolysis of an omental artery is an exceptionally rare condition. A 69-year-old man presented with haemoperitoneum six days after being hospitalized due to pneumogenic sepsis. Computed tomography of the abdomen showed a short segment dilatation of an omental artery in the left upper abdomen, compatible with segmental arterial mediolysis. Angiographic examination revealed alterations of omental branches of the right gastroepiploic artery and an aneurysm of the left omental artery, both characteristic of segmental arterial mediolysis. Embolization of the left omental artery with use of N-butyl-2-cyanoacrylate was performed. The postinterventional course was uneventful with increase of haemoglobin levels and without symptoms of omental infarction. Transcatheter embolization in the setting of haemoperitoneum due to segmental arterial mediolysis of an omental branch is technically feasible and a valuable alternative to emergency operation.
ALK-Positive Anaplastic Large Cell Lymphoma: A Diagnostic Dilemma for the Otolaryngologist in a Resource Poor Setting
Authors: Nicholas Figaro, Rickhi Ramoutar, Rodolfo Arozarena, Dawn Meyers, Solaiman Juman
Journal: Case Rep Otolaryngol (2021)
MeSH terms: Case Reports

Anaplastic large cell lymphoma is a rare subtype of non-Hodgkin's lymphoma. The morphological diversity with which its anaplastic cells confer make the diagnosis of this hematological entity extremely challenging to the pathologist in a resource poor setting. We present a case of a 35-year-old male with a nasopharyngeal mass and cervical lymphadenopathy and the adversities faced by out otolaryngology department with obtaining the diagnosis of ALK-positive anaplastic large cell lymphoma.