OpenMed/multicare-articles huggingface dataset:
Clinical features and management of atypical hemolytic uremic syndrome patient with DGKE gene variants: a case report
Authors: Xiaomei Dai, Yu Ma, Qiang Lin, Hanyun Tang, Ruyue Chen, Yun Zhu, Yunyan Shen, Ningxun Cui, Zhongqin Hong, Yanhong Li, Xiaozhong Li
Journal: Front Pediatr (2023)
Keywords: dgke gene, tma, atypical hemolytic uremic syndrome, chronic kidney disease (ckd), plasma therapy
MeSH terms: Review

Background:
Atypical hemolytic uremic syndrome (aHUS) with diacylglycerol kinase epsilon (DGKE) gene variant is a rare variant of thrombotic microangiopathy (TMA). The information on the clinical features, management and long-term outcomes of DGKE-aHUS patients have not yet been fully elucidated. The aim of this study was to report a novel variant of the DGKE gene in a Chinese population with aHUS.
Case presentation:
The present work reports a 7-month-old boy with aHUS, possibly triggered by gastrointestinal infection, without complement activation, with little response to plasma therapy and nephroprotective measures. The patient died during the 8th week of his hospital stay. The causes of death were intracranial hemorrhage and multiorgan dysfunction. Comprehensive WES of peripheral blood-derived DNA revealed two heterozygous variations in the DGKE exon region: NM_003647.2, c.610dup, p.Thr204Asnfs*4 and deletion of exons 4-6.
Conclusions:
This case suggest that atypical HUS with DGKE gene variant has a poor prognosis with a high mortality rate, which typically manifests in the first year of life and presents as a systemic disease with early-onset HUS with rapidly worsening renal function and chronic proteinuria. There is no specific treatment for DGKE-aHUS. There have an uncertain benefit of plasma therapy for DGKE-aHUS patients. The literature demonstrated that anti-complement therapy showed benefits for DGKE-aHUS with complement activation and autoantibodies during the overt TMA presentation but did not prevent TMA relapses. Early diagnosis and treatment may prevent complications and improve prognosis.
Desmoplastic Small Round Cell Tumors Presented With ST-Segment Elevation Myocardial Infarction and Cardiac Tamponade in a Young Adult Female: A Case Report
Authors: Kensuke Takaoka, Ashwin Venkataraman, Clarke Morihara, Arvin Tan, Witina Techasatian
Journal: Cureus (2024)
Keywords: aggressive sarcoma, desmoplastic small round cell tumors, mass lesion lung, pericardial effusion with cardiac tamponade, st-elevation myocardial infarction (stemi)
MeSH terms: Case Reports

Desmoplastic small round cell tumors (DSRCT) are very rare and aggressive diseases typically present with abdominal or retroperitoneal masses. We present a case of a young female who presented with ST-segment elevation myocardial infarction and cardiac tamponade and who was found to have DSRCT. The patient was coded at the emergency department. Left heart catheterization showed normal coronary arteries, and pericardiocentesis removed 1,260 mL of bloody pericardial effusions. The patient was stabilized, and a positron emission tomography scan revealed left intrahilar, hilar, and cardiophrenic masses with associated hypermetabolic right hilar, left hilar, subcarinal, costophrenic, aortopulmonary, paratracheal, and mediastinal lymphadenopathy. Cardiac magnetic resonance imaging showed multiple masses visualized in the pericardium, one mass anterior to the right ventricular outflow tract/pulmonary artery, and a second mass adjacent to the right ventricular apex. Computed tomography abdomen/pelvis showed no evidence of metastatic malignancy in the abdomen/pelvis. A biopsy of lung mass and lymph nodes showed desmoplastic small round cell tumors with sarcoma fusion gene detected (Ewing sarcoma RNA-binding protein 1-Wilms' tumor 1). We performed cycle 1 of chemotherapy, including doxorubicin, vincristine, and cyclophosphamide, and the patient was transferred to an oncology center for further care. This case suggested that one of the differential diagnoses of lung and pericardium masses at a young age can be desmoplastic small round cell tumors. This case also highlighted that ST-segment elevation myocardial infarction can be secondary to neoplasm, especially at a young age besides myocardial infarction.
The Use of Sucroferric Oxyhydroxide Prior to Sigmoidoscopy in Patients With End-Stage Kidney Disease: A Case Report
Authors: Jennifer Horwitz, Katelyn Roberts, Stephanie Canning, Douglas Mcintosh, Deborah Zimmerman
Journal: Can J Kidney Health Dis (2024)
Keywords: bowel preparation, hyperphosphatemia, kidney transplantation, phosphate binder, sucroferric oxyhydroxide
MeSH terms: Case Reports

Rationale:
Sucroferric oxyhydroxide is an iron-based phosphate-binding medication that has been approved for the treatment of hyperphosphatemia in patients with end-stage kidney disease. Given the low overall iron release from the polynuclear iron(III)-oxyhydroxide molecule, recommendations regarding its use prior to colonoscopy/sigmoidoscopy have not been developed.
Presenting concerns of the patient:
A 51-year-old male with a known history of end-stage renal disease treated with hemodialysis was referred to Gastroenterology for consideration of colonoscopy to rule out malignancy because of a history of rectal bleeding. This was to be completed prior to proceeding with a living-donor kidney transplant.
Diagnoses:
Flexible sigmoidoscopy done after non-diagnostic colonoscopy demonstrated diffuse "charcoal-like" material that prevented adequate visualization of the bowel despite standard bowel preparation. The findings were believed to be secondary to the use of sucroferric oxyhydroxide prescribed for hyperphosphatemia.
Interventions:
The patient was subsequently instructed to discontinue sucroferric oxyhydroxide for 2 weeks prior to his repeat sigmoidoscopy procedure.
Outcomes:
The patient's repeat sigmoidoscopy after discontinuing sucroferric oxyhydroxide allowed for adequate bowel visualization that revealed only a benign lipoma.
Teaching points:
This case demonstrates the potential for sucroferric oxyhydroxide use to result in poor bowel preparation and resulting inadequate visualization on lower gastrointestinal endoscopy. It serves to highlight the clinical implications leading to the need for repeated procedures, which contributes to resource waste and unnecessary costs to the healthcare system, as well as delays in diagnostic evaluation required for transplantation; patient frustration was evident.
Complete remission of depression and anxiety using a ketogenic diet: case series
Authors: Lori Calabrese, Rachel Frase, Mariam Ghaloo
Journal: Front Nutr (2024)
Keywords: kmt, anxiety, case report, depression, ketogenic diet (kd), ketogenic metabolic therapy, metabolic dysfunction
MeSH terms: Case Reports

Background:
There is little data that describe the use of ketogenic metabolic therapy to achieve full remission of major depression and generalized anxiety disorder in clinical practice. We present a retrospective case series of three adults with major depression and generalized anxiety disorder with complex comorbidity, treated with personalized ketogenic metabolic therapy, who achieved complete remission of major depression and generalized anxiety disorder and improvements in flourishing, self-compassion, and metabolic health.
Methods:
Three adults, ages 32-36, with major depression, generalized anxiety, other anxiety disorders, and comorbid psychiatric conditions were treated for 12-16 weeks with personalized whole food animal-based ketogenic metabolic therapy (1.5:1 ratio) in a specialized metabolic psychiatry practice. Interventions included twice-weekly visits with an experienced ketogenic registered dietitian; daily photo journaling and capillary blood BHB/glucose/GKI monitoring; virtual groups; family/friends support; nature walks and talks several times per week, and community building. Successful adoption of the ketogenic diet was defined as the achievement and maintenance of capillary BHB ≥ 0.8 mmol/L and GKI < 6. Remission was assessed by GAD-7 and PHQ-9, and quality of life was assessed subjectively and with validated scales for flourishing and self-compassion. Metabolic health was assessed by laboratories/biometric measures.
Results:
Two patients achieved remission of major depression (PHQ-9 ≤ 4) and generalized anxiety (GAD-7 ≤ 4) within 7 weeks of therapeutic nutritional ketosis; one required 12 weeks. Anxiety responded and remitted more quickly than major depression. Flourishing and self-compassion increased steadily. Patients lost 10.9 to 14.8% of their initial body weight within 12 weeks and improved metabolically; one achieved optimal metabolic health.
Conclusion:
Complete remission of major depression and generalized anxiety disorder occurred within 7-12 weeks of therapeutic nutritional ketosis during treatment with a personalized animal-based ketogenic diet (ratio 1.5:1) in adults with complex comorbid depression and anxiety engaged in a specialized metabolic psychiatry program.
Case report: Salivary duct carcinoma in a patient with a germline CDH1 pathogenic variant - expanding the spectrum of hereditary cancer predisposition syndromes
Authors: Nidhi Desai, Emilian Racila, Naomi Fujioka, Arjun Gupta, Emmanuel S Antonarakis
Journal: Front Oncol (2024)
Keywords: cdh1, cancer, germline, pathogenic variant, salivary duct carcinoma
MeSH terms: Case Reports

Introduction:
Recently, an entity known as salivary duct carcinoma with rhabdoid features (SDC-RF) has been associated with somatic CDH1 mutations. Here we present the first known case report of conventional SDC occurring in the setting of a germline CDH1 pathogenic variant accompanied by a somatic loss of heterozygosity at the CDH1 locus.
Case discussion:
A 67-year-old man presented with chest and back pain and was found to have osteolytic lesions in the sternum and lumbar spine. Vertebral bone biopsies were positive for metastatic carcinoma of unknown primary. A molecular profiling assay consisting of both whole-exome next-generation sequencing (NGS) as well as immunohistochemistry (IHC) for select clinically-relevant proteins performed on the bone biopsy suggested a triple-negative (ER/PR/ERBB2 negative, by IHC), androgen receptor (AR IHC) positive tumor profile. Additionally, the assay uncovered a coding mutation in the CDH1 gene (c.1792C>T, p.R598*) with genomic loss of the second CDH1 allele. Germline testing returned positive for a heterozygous CDH1 pathogenic variant. PET-CT revealed a tumor in the neck suggestive of the primary malignancy consistent with that of salivary gland origin. The patient was initially treated with carboplatin and paclitaxel, then pembrolizumab, and finally with AR-directed therapy using leuprolide and enzalutamide. These treatments were not successful, and the patient eventually succumbed to his disease.
Conclusion:
Molecular testing revealed that our patient had bi-allelic inactivation of the CDH1 gene. We believe our patient developed a somatic mutation in addition to his preexisting germline CDH1 mutation that ultimately predisposed him to SDC. While previous studies have found somatic CDH1 pathogenic variants in SDC-RF, our patient was found to have a germline CDH1 pathogenic variant in the setting of conventional SDC, without rhabdoid features. This case provokes questions regarding tumor genetics and molecular profiling of SDC in patients with germline CDH1 pathogenic variants. Moreover, this case supports the notion that SDC may be the salivary counterpart of other malignancies associated with germline CDH1 pathogenic variants and may possibly expand the spectrum of tumors that arise in this familial cancer-predisposition syndrome.
Case report: Thrombolysis in patients with acute ischemic stroke and cerebral cavernous malformation
Authors: Jie Lin, Xiongpeng Weng, Jing Zheng, Saizhen Wu, Qiongqiong Bao, Feifei Peng, Yanbin Huang
Journal: Front Neurol (2023)
Keywords: acute stroke, case series, cerebral cavernous malformation, intravenous tissue plasminogen activator, literature review, thrombolysis
MeSH terms: Case Reports

Background:
Cerebral cavernous malformation (CCM) is a rare disease associated with a latent risk of intracranial hemorrhage. However, due to limited evidence, the safety of recommending intravenous tissue plasminogen activators for patients with acute stroke and CCM remains uncertain.
Methods:
Our study identified five patients with acute stroke and CCM treated between 2017 and 2023 across two hospitals. A comprehensive literature review was conducted, incorporating three similar case reports and two retrospective studies.
Results:
Among 30 patients reviewed, three exhibited symptomatic intracranial hemorrhage, two of whom were women. Additionally, three patients presented with calcification in their CCM, with two experiencing symptomatic intracranial hemorrhage.
Conclusion:
The observed incidence of symptomatic intracranial hemorrhage following intravenous tissue plasminogen activator administration appears to be elevated in patients with CCM. Therefore, before thrombolysis, a thorough evaluation of personalized risk-benefit ratios is crucial. Furthermore, conducting further research involving multiple centers and larger sample sizes is imperative to advance our understanding in this area, especially in identifying hemorrhage risk factors.
A Rare Case of Acute Esophageal Necrosis Precipitated by Klebsiella Pneumoniae
Authors: Lekha Yadukumar, Hunain Aslam, Khalid Ahmed, Peter Iskander, Khadijah Sajid, Omar Syed, Mark M Aloysius, Simin Nasr, Vikas Khurana
Journal: Gastro Hep Adv (2023)
Keywords: acute esophageal necrosis, coffee-ground vomitus, esophagoduodenoscopy, gastrointestinal bleed, klebsiella pneumonia
MeSH terms: Case Reports

Acute esophageal necrosis is a rare condition; visualization of necrosis on esophagoduodenoscopy can help establish the diagnosis. Due to variations in blood supply, there is a higher propensity for ischemic episodes to occur along the lower esophagus; these can be of particular importance during times of hypotension. Underlying infections and atherosclerosis can further exacerbate blood supply leading to ischemia in these watershed zones. We present a case of a patient with Klebsiella pneumonia who was found to have "coffee-ground" output on nasogastric tube suctioning. Esophagoduodenoscopy was performed, which showed evidence of circumferential esophageal necrosis. Unfortunately, despite antibiotic and vasopressor support, the patient ultimately passed away.
Amyloid Light-Chain (AL) Amyloidosis of the Trachea Associated With an Indolent B-cell Neoplasm
Authors: Anup Kumar Trikannad, Asis Shrestha, Sruthi Vellanki, Hira I Cheema, Tanvi H Patel, Ramya Bachu, Shobhit Sharma, Susanne K Jeffus, Sharmilan Thanendrarajan
Journal: Cureus (2024)
Keywords: amyloidosis (al), b cell neoplasm, localized tracheal al amyloidosis, small cd5-positive monotypic b-cell population, tracheal stenosis
MeSH terms: Case Reports

We report the case of a 66-year-old woman who was diagnosed with localized tracheal amyloid light-chain (AL) amyloidosis caused by an underlying B-cell neoplasm. The diagnosis was confirmed through subsequent bronchoscopy and biopsies; however, she experienced a challenging episode of hypoxic respiratory failure that required intervention. Repeat bronchoscopies showed persistent subglottic stenosis and tracheobronchomalacia, which led to tracheal debulking surgery and additional interventions. The patient's treatment began with rituximab, zanubrutinib, and dexamethasone with outpatient follow-up. The rarity of tracheobronchial amyloidosis and its connection to B-cell malignancies are highlighted, emphasizing the challenges in diagnosis and the importance of tailored treatment strategies. The patient's clinical course, characterized by atypical respiratory symptoms, delayed diagnosis, and an evolving treatment approach, underscores the complexities of managing such a rare and intricate case.
Histopathological Insight of a Case of Adenoid Ameloblastoma: A Rare Odontogenic Tumor
Authors: Shashi Keshwar, Toniya Raut, Neetu Jain, Ashish Shrestha, Mehul Rajesh Jaisani
Journal: Case Rep Dent (2024)
MeSH terms: Case Reports

Adenoid ameloblastoma with dentinoid had been perceived as a rare odontogenic tumor with bridging histopathological features between ameloblastoma and adenomatoid odontogenic tumor. Due to the mixture of histopathological features of two separate and well-recognized entities, adenoid ameloblastoma was also regarded as a hybrid lesion. The diversity in the histopathological presentation among the cases has disaccorded the nature, behaviour, and prognosis of this pathology. Despite the literature acknowledging the histopathological diversity, categorizing all these variations into one and addressing them as a single entity was lagging till the 5th edition of the odontogenic tumor classification by the WHO was forwarded. With the establishment of the new terminology of adenoid ameloblastoma and the enlistment of its diagnostic criteria, the scientific literature has advocated updating, contributing, and redefining the various aspects of this pathology. Here, we present a case of a 34-year-old male who presented with a chief complaint of swelling in the lower front region of his jaw in the past one month. The swelling was associated with pain that was sudden in onset with a progressive increase in size. The swelling was also associated with discharge that resembled pus. A panoramic radiograph showed a mixed radiopaque and radiolucent area, extending from the distal aspect of 32 up to the distal aspect of 43. The entire cystic lining along with the growth was excised and sent for histopathological examination. Correlating clinically, the histopathological features are suggestive of adenoid ameloblastoma. Scientific literature has stood as a boon to evidence-based practice. The diagnosis for the present case report is truly an outcome of the literature-based update which helped the diagnosis of the case as a separate entity rather than as a hybrid pathology. The goal was to enhance the understanding of the lesions in terms of their clinical characteristics and diverse histopathological morphology.
Same duodenal neuroendocrine tumors, different endoscopic resection methods: a case report and literature review
Authors: Jinguo Liu, Liangliang Yu
Journal: Front Med (Lausanne) (2024)
Keywords: esd, ster, duodenal bulb, endoscopic resection, neuroendocrine tumor
MeSH terms: Case Reports

Duodenal neuroendocrine tumors (NETs), comprising 2-3% of all gastrointestinal NETs and 1-3% of all duodenal tumors, are remarkably uncommon. In this report, we described a patient diagnosed with two submucosal tumors in the duodenal bulb. We used two distinct endoscopic resection methods, including endoscopic submucosal dissection (ESD) and submucosal tunneling endoscopic resection (STER), to achieve en bloc resection of the lesions without complications. Pathological evaluation, involving hematoxylin-eosin staining and immunohistochemistry, confirmed the diagnosis of NET. Given the limited operative field and space in the duodenal bulb, STER proved to be a viable endoscopic resection technique.
Road Traffic Accident Traumatic Vehicle Seat Belt Abdominal Wall Hernia
Authors: Mahmoud R Manasra, Roua E Farah, Arein A Abufara, Bara M AbuIrayyeh, Rahaf E Farah, Mohammed A Maraqa
Journal: Case Rep Surg (2024)
MeSH terms: Case Reports

Traumatic abdominal wall hernia (TAWH) is a rare type of hernia with an incidence of about <1.5%, resulting from blunt abdominal trauma, which leads to an increase in the intra-abdominal pressure and rupture in the abdominal musculature and fascia with herniation of the abdominal organs into the defect. Most TAWH contained either a small bowel (69%) or a large bowel (36%), with 16% containing both. This condition is often not present as an isolated case, as 30% to 60% of the cases are accompanied by other intra-abdominal injuries. The typical manner of presentation is a tender subcutaneous swelling across the abdomen wall with overlaying bruising and ecchymosis. The radiological investigative modality of CT scan has the highest index of diagnosing accompanied intra-abdominal visceral injuries. We present a rare case of a 23-year-old male patient diagnosed with TAWH containing both small bowel and sigmoid colon associated with psoas hematoma caused by a seat belt postroad traffic accident (RTA).
Leptomeningeal Carcinomatosis From Primary Mucinous Carcinoma of the Ovary
Authors: Alexander Dye, Rachel Stein, Gregory Lewis, Karina Hew
Journal: Cureus (2024)
Keywords: brain metastases, leptomeningeal carcinomatosis, management, ovarian cancer, surgery, treatment
MeSH terms: Case Reports

Leptomeningeal carcinomatosis (LMC) is an extremely rare site for metastasis from a primary ovarian cancer. LMC occurs when the thin layers of tissue that surround the brain and spinal cord are infiltrated by ovarian cancer metastasis. We present a case of a 63-year-old female with recurrent metastatic mucinous adenocarcinoma of the ovary who was diagnosed with LMC. While undergoing sixth-line chemotherapy, she presented with debilitating headaches and gait instability. Brain MRI revealed subarachnoid enhancement and other findings diagnostic of LMC. Given the rarity of this disease, treatment protocols have yet to be established. In patients with primary ovarian cancer that present with new onset neurological complaints, LMC should be suspected and appropriate imaging obtained.