OpenMed/multicare-articles huggingface dataset:
Upper gastrointestinal bleeding due to Dieulafoy's lesion of the stomach: a rare case report
Authors: Alsalt Al-Busaidi, Jaifar Alomairi, Omer Alabri, Eissa Alwheibi, Alazhar Almaghadari, Mhmod R Kadom, P Ronan O'Connell
Journal: EXCLI J (2023)
Keywords: dieulafoy's lesion, exulceratio simplex, hematemesis, pulsatile bleeding, upper gastrointestinal bleeding
MeSH terms: Case Reports

Dieulafoy's lesion is a life-threatening and rare vascular malformation of the submucosal vessel that protrudes to the mucosa of the gastrointestinal tract. The vessel is abnormally dilated, and if it ruptures, it can cause severe acute gastrointestinal bleeding. We report an upper GI bleeding case due to Dieulafoy's lesion in the gastric fundus of the stomach in a 76-year-old female. The patient presented with hematemesis and melena associated with anemia. An esophagogastroduodenoscopy (OGD) was performed which showed profuse pulsatile bleeding at the gastric fundus. Following that, gastrotomy confirmed the diagnosis of Dieulafoy's lesion. Endoscopy is the main diagnostic and therapeutic tool for Dieulafoy's lesion. Endoscopic treatment includes injective, ablative and mechanical therapies. The majority of cases are treated endoscopically, while in some cases, surgical intervention is deemed to be necessary as it is currently the only definitive treatment of Dieulafoy's lesion.
Case Report: Whole exome sequencing identifies compound heterozygous variants in the TRAPPC9 gene in a child with developmental delay
Authors: Bingxuan Yu, Jing Chen, Shuo Yang, He Wang, Yuanyuan Xiao, Shanling Liu
Journal: Front Genet (2024)
Keywords: trappc9, developmental delay, frame shift, variants, whole exome sequencing
MeSH terms: Case Reports

Background:
Developmental delay in children under 5 years old, which occurs globally with an incidence of 10%-15%, is caused by multiple factors including genetics, prenatal conditions, perinatal complications, postnatal influences, social factors, and nutritional deficiencies. Gene variants such as EFNB1, MECP2 and TRAPPC9 play a significant role in protein deformation and downregulation of nuclear factor κB (NF-κB) activity.
Methods:
A 3-year-old girl, who exhibits poor gross motor skills, personal-social development, auditory language, hand-eye coordination, and visual performance, was diagnosed with global developmental delay. Trio whole exome sequencing was conducted to identify the genetic etiology of her condition. The identified genetic etiology was then validated through Sanger sequencing and quantitative polymerase chain reaction (qPCR).
Results:
Genetic analysis revealed that the patient had compound heterozygous variants in the TRAPPC9 gene. These include a c.1928del frameshift variant inherited from the unaffected father and a deletion in exon 12 inherited from the unaffected mother. According to the American College of Medical Genetics (ACMG) guidelines, these variants were classified as "likely pathogenic".
Conclusion:
The study revealed that compound heterozygous TRAPPC9 gene variants cause developmental delay in a Chinese girl. These variants have been classified as having significant pathogenic effect according to the ACMG criteria, suggesting a recessive genetic pattern and highlighting the importance of prenatal testing for future offspring. Furthermore, our findings expand the genotype spectrum of the TRAPPC9 gene, and provide more comprehensive information regarding genetic counseling for children experiencing developmental delay.
Case report: Substantial improvement of autism spectrum disorder in a child with learning disabilities in conjunction with treatment for poly-microbial vector borne infections
Authors: Amy Offutt, Edward B Breitschwerdt
Journal: Front Psychiatry (2023)
Keywords: adhd, bartonella, lyme, ocd, pans, autism, infections, tics
MeSH terms: Case Reports

Poly-microbial vector-borne infections may have contributed to neuropsychiatric symptoms in a boy diagnosed with autism spectrum disorder. Targeted antimicrobial treatment resulted in substantial improvement in cognitive (such as learning disabilities, focus, concentration) and neurobehavioral (such as oppositional, defiant, anti-social, disordered mood, immaturity, tics) symptoms.
A Rare Case of Richter Transformation to Both Clonally Unrelated and Clonally Related Diffuse Large B-Cell Lymphoma in the Same Patient
Authors: Michelle D Don, Carlos Casiano, Huan-You Wang, Mikhail Gorbounov, Wei Song, Edward D Ball
Journal: Case Rep Hematol (2024)
MeSH terms: Case Reports

Richter transformation (RT) is a rare sequelae of chronic lymphocytic leukemia (CLL)/small lymphocytic lymphoma (SLL). The clonal relationship of the RT to the underlined CLL/SLL is an important prognostic factor as clonally related RT has a worse prognosis than that of clonally unrelated RT. The development of more than one RT in the same patient is exceedingly rare and prior reports have shown cases consisting of RT to diffuse large B-cell lymphoma (DLBCL) and a subsequent or synchronous Hodgkin lymphoma. Here, we present a rare case of RT first to a clonally unrelated DLBCL and subsequently a clonally related DLBCL. Additionally, we retrospectively conducted next-generation sequencing studies of both RT's and found different mutational landscapes, including more clinically aggressive mutations identified in the clonally related RT. To our knowledge, this is the first reported case of clonally related and clonally unrelated RT, both of which are DLBCL, in the same patient.
Graded exercise with motion style acupuncture therapy for a patient with failed back surgery syndrome and major depressive disorder: a case report and literature review
Authors: Do-Young Kim, In-Hyuk Ha, Ju-Yeon Kim
Journal: Front Med (Lausanne) (2024)
Keywords: failed back surgery syndrome, graded exercise therapy, major depressive disorder, motion-style acupuncture therapy, rehabilitation therapy
MeSH terms: Case Reports

Effective treatment of failed back surgery syndrome (FBSS) remains challenging despite urgent medical attention requirements. Depression is a contributing factor to the development and poor prognosis of FBSS, and vice versa. We report the case of a patient with FBSS and major depressive disorder (MDD) treated with graded exercise combined with motion-style acupuncture therapy (MSAT). A 53-year-old male veteran who had undergone lumbar discectomy and laminectomy with instrumented fusion was admitted to the hospital with re-current back pain and radiative pain in the left leg. The effects of failed surgery triggered MDD as a comorbidity. After a six-week routine treatment without remarkable improvement, a three-week program of graded exercise with MSAT was applied. The numeric rating scale (NRS) and short form-36 (SF-36) were used to assess low back pain with radiating leg pain, and daily functioning levels, respectively. The voluntary walking distance of the patients was measured. To analyze the therapeutic effects and other applications of the intervention, we surveyed clinical trials using MSAT or graded exercise therapy (GET). Three weeks of graded exercise with MSAT reduced physical and mental functional disabilities (SF-36, physical component: 15.0 to 37.2, mental component: 21.9 to 30.1) as well as the intensity of low back pain and/or radiative leg pain (NRS: 50 to 30). Furthermore, as the therapeutic intensity gradually increased, there was a significant corresponding increase in daily walking distance (mean daily walking distance, the first week vs. baseline, second, and third week, 3.05 ± 0.56: 2.07 ± 0.79, 4.27 ± 0.96, and 4.72 ± 1.04 km, p = 0.04, p = 0.02, and p = 0.003, respectively). Three randomized controlled trials of GET were included, all showing statistically significant antidepressant effects in the diseased population. Graded exercise with MSAT may be an effective rehabilitative therapy for patients with FBSS and MDD who have impaired daily routines.
Acute Coronary Syndrome as an Unusual Initial Presentation of T-Prolymphocytic Leukemia: A Case Report and Review of the Literature
Authors: Christian R Klein, Felix Jansen, Peter Brossart, Marco Herling, Georg Feldmann
Journal: Case Rep Hematol (2024)
MeSH terms: Case Reports

T-prolymphocytic leukaemia (T-PLL) is the most common mature T-cell leukaemia in Central Europe and is often manifested by rapidly increasing lymphocytosis, marked bone marrow infiltration and splenomegaly. In 10-15% of cases, the diagnosis is made by incidental findings in otherwise asymptomatic patients. Here we report a case of T-PLL that initially became symptomatic due to the presence of acute coronary syndrome (ACS). Initially, emergency coronary angiography with consecutive emergency 5-coronary artery bypass grafting (CABG) was performed. Leukocytosis was found perioperatively and T-PLL (with TCL1 rearrangement) was subsequently diagnosed. Despite known potential cardiotoxicity, the patient was treated with the anti-CD52 antibody alemtuzumab with a gradual dose increase from 3 mg to 30 mg per day. Systemic alemtuzumab therapy resulted in the complete remission of T-PLL in the bone marrow without any impairment to cardiac function. The patient was then eligible to undergo a consolidating allogeneic stem cell transplant (alloSCT). The reported case shows that T-PLL can also become initially symptomatic through an acute coronary syndrome on the basis of complex coronary heart disease. Targeted antileukaemic therapy with the monoclonal antibody alemzutumab can lead to effective systemic cytoreduction without cardiac dysfunction even in patients with severe cardiac disease, although cases of cardiotoxicity have been reported.
Remission of necrobiotic xanthogranuloma after intravenous immunoglobulin interruption: A case report
Authors: Amélie Gilbert-Falardeau, Anne-Marie Drolet
Journal: SAGE Open Med Case Rep (2024)
Keywords: necrobiotic xanthogranuloma, intravenous immunoglobulin, non-langerhans cell histiocytosis, systemic therapy
MeSH terms: Case Reports

Necrobiotic xanthogranuloma is a rare non-Langerhans cell histiocytosis with the potential for multisystemic involvement. It's a challenging disease to treat and multiple treatments have been reported in the literature with variable results. We present the case of a 92-year-old woman with multiple orange-brown papules and plaques on her face progressing for several years. The biopsy showed dermal xanthogranulomatous infiltration with multinucleated giant cells and necrobiosis, and she was diagnosed with necrobiotic xanthogranuloma. A complete response was obtained with intravenous immunoglobulins and she remained in remission despite treatment discontinuation.
Angiomatosis Occurring in an Uncommon Location and Age Group: A Case Report and Literature Review
Authors: Ebenezer O Fatunla, Babatope L Awosusi, Francis A Onakpoma
Journal: Cureus (2024)
Keywords: angiomatosis, diffuse haemangioma, upper back, vascular lesion, vascular neoplasm
MeSH terms: Case Reports

Angiomatosis is a rare benign vascular malformation. The lesion has a highly infiltrative nature and a high recurrence rate, making it easily misdiagnosed as malignancy. Therefore, diagnosis is best made based on a combination of clinical, radiological, and histological features. This case presentation is unique because aside from the fact that the lesion is rare, it was seen in an uncommon age and location. Occurrence in such location has not been documented, making this presentation the first of its kind. A 29-year-old male presented with a swelling on the right side of the back, reportedly present for the past six years. The swelling was painless, with a history of progressive increase in size. Examination at presentation revealed a fairly round mass located on the back, 5 cm below the right scapula. He underwent a wide local surgical excision with the material sent for histopathological evaluation. Based on the morphologic features, a definitive angiomatosis diagnosis was made. Our patient had complete surgical excision with histologically confirmed free margins and no recurrence after eight months of post-operative follow-up.
Case report: Extracorporeal life support as a successful bridge to recovery in an incident case of pulmonary arterial hypertension
Authors: Benjamin Pequignot, Ari Chaouat, François Chabot, Bruno Levy, Simon Valentin
Journal: Front Med (Lausanne) (2024)
Keywords: ecls, ecmo, pah, cardiac failure, prostacyclin, pulmonary hypertension
MeSH terms: Case Reports

Pulmonary arterial hypertension (PAH) is characterized by a progressive increase in pulmonary vascular resistance (PVR) due to vascular remodeling of the small pulmonary arteries. In advanced RV failure or severe hypoxemia, extra corporeal life support (ECLS) is now to be considered, with the objective to bridge patients back to their baseline clinical state while waiting or right after lung transplantation, or bridge to pharmacological optimization of PAH (i.e., bridge to recovery). We describe herein a case of a 30-year-old woman (gravida 6, para 6) with an incident case of heritable PAH revealed by refractory hypoxemia. Despite the use of mechanical ventilation and fluid optimization, the patient remained profoundly hypoxemic. ECLS was then initiated to avoid tissue hypoxia. The mechanical option chosen was peripheral femoro-femoral venoarterial extracorporeal membrane oxygen (VA-ECMO), percutaneously implanted. Due to the absence of evidence of chronic respiratory disease or chronic thromboembolic pulmonary hypertension, this severe pre-capillary pulmonary hypertension was attributed to PAH. Therefore, epoprostenol infusion and an association of oral treatments (bosentan and tadalafil) were administered. A dramatic improvement was observed, allowing decannulation 7 days after the initiation of pharmacological treatment. After 29 days, the patient was discharged from the hospital with epoprostenol, bosentan, and tadalafil. The assessment has been completed by positive research on mutations (c.741C > G, p.Tyr247) corresponding to a loss of function of the bone morphogenetic protein receptor 2 (BMPR2) gene. The final diagnosis was heritable PAH. The use of ECLS has been well demonstrated in patients with PAH complicated by acute RV failure or refractory hypoxemia in the "bridge-to-transplantation" strategy. Only a few reports have described the use of ECLS as a "bridge-to-recovery" with PAH drugs in untreated or undertreated PAH patients, but none has described such a rapid improvement with resolution of refractory hypoxemia. More studies are needed to assess the benefits and limitations of the "bridge-to-recovery" strategy and to identify the patients most likely to benefit from it.
Case report: Abomasal ulcer secondary to congenital pyloric and duodenal stenosis in a 3-day-old heifer
Authors: Fatima Zahra Laabouri, Chelsea Folmar, Vicente Avila Reyes, Erin Beasley, Clare Ryan, Corrie Brown
Journal: Front Vet Sci (2023)
Keywords: abomasal ulcer, congenital abnormality, duodenum, heifer, peritonitis
MeSH terms: Case Reports

Abomasal ulcers, an economic concern for all calf-raising farms, are usually silent until perforation occurs, at which time management is complicated and often unrewarding. This case study describes perforating ulcer in a 3-day-old Brahman heifer, occurring secondary to a congenital narrowing of the pylorus and proximal duodenum and leading to marked abomasal distention, leakage, and eventual peritonitis and sepsis.
Satralizumab as an add-on treatment in refractory pediatric AQP4-antibody-positive neuromyelitis optica spectrum disorder: a case report
Authors: Xiaojing Li, Wenlin Wu, Yiru Zeng, Wenxiao Wu, Chi Hou, Haixia Zhu, Yinting Liao, Yang Tian, Zongzong Chen, Bingwei Peng, Wen-Xiong Chen
Journal: Front Immunol (2023)
Keywords: aqp4, nmosd, pediatric, relapse, satralizumab
MeSH terms: Neuromyelitis Optica / drug therapy, Case Reports, Research Support, Non-U.S. Gov't, Antibodies, Monoclonal / therapeutic use, Autoantibodies, Child, Female, Humans, Immunoglobulins, Intravenous / therapeutic use, Mycophenolic Acid / therapeutic use, Prednisone / therapeutic use, Recurrence, satralizumab, Prednisone, Autoantibodies, Mycophenolic Acid, Immunoglobulins, Intravenous, Antibodies, Monoclonal

Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune disease of the central nervous system. Relapse and incomplete recovery from relapse are common in NMOSD. Most patients with NMOSD have IgG to aquaporin-4 (AQP4-IgG). New biological agents for AQP4-IgG-seropositive NMOSD, such as satralizumab, have become available for maintenance therapy. Satralizumab is an anti-interleukin-6 receptor monoclonal antibody. To date, few studies have evaluated satralizumab as an add-on treatment in pediatric NMOSD patients. Here, we report an 11-year-old girl with NMOSD who frequently relapsed under long-term treatment, including oral prednisone, rituximab, mycophenolate mofetil (MMF), and maintenance intravenous immunoglobulin treatment even with B-cell depletion. For the poor treatment response and to improve the efficacy of relapse prevention further, the patient received satralizumab treatment as an add-on therapy to MMF plus oral prednisone, with a dose of 120 mg administered subcutaneously at weeks 0, 2, and 4 and every 4 weeks after that. After initiating satralizumab, the patient remained relapse-free for 14 months at the last follow-up. Satralizumab might be effective and safe as an add-on treatment in refractory pediatric AQP4-IgG-seropositive NMOSD under B-cell depletion.
Potential therapeutic option for EGFR-mutant small cell lung cancer transformation: a case report and literature review
Authors: Xiaoxuan Li, Xinchi Luan, Mengqi Zhang, Rui Wang, Jing Guo, Jing Lv, Wensheng Qiu, Shufen Zhao
Journal: Front Immunol (2024)
Keywords: egfr exon 19 deletion (19 del), case report, combination therapy, non-small cell lung cancer (nsclc), pathological transformation, small cell lung cancer (sclc)
MeSH terms: Antineoplastic Combined Chemotherapy Protocols / therapeutic use, ErbB Receptors / genetics, Lung Neoplasms / drug therapy, Lung Neoplasms / genetics, Mutation, Small Cell Lung Carcinoma / drug therapy, Small Cell Lung Carcinoma / genetics, Small Cell Lung Carcinoma / pathology, Case Reports, Review, Acrylamides, Aged, Aniline Compounds, Cell Transformation, Neoplastic / genetics, Etoposide / administration & dosage, Etoposide / therapeutic use, Humans, Indoles, Male, Middle Aged, Pyrimidines, ErbB Receptors, EGFR protein, human, osimertinib, Etoposide, Acrylamides, Aniline Compounds, Indoles, Pyrimidines

Transformation from non-small cell lung cancer (NSCLC) to small cell lung cancer (SCLC) is rare and is associated with poor prognosis. However, the standard treatment protocols for patients with SCLC transformation remain unknown. Here, we report the case of a patient with advanced EGFR exon 19 deletion (19del) NSCLC who underwent SCLC transformation during targeted therapy. Biopsies and genetic testing were performed to adjust treatment regimens accordingly. The patient responded favorably to a combined treatment regimen comprising etoposide plus cisplatin chemotherapy and adebrelimab plus osimertinib. This case highlights the critical importance of acknowledging tumor heterogeneity in clinical decision-making and identifying potentially effective treatment options for patients with SCLC transformation. Additionally, we reviewed cases of the transformation of NSCLC to SCLC from 2017 to 2023.
Beyond the Neonate: A Delayed Presentation of Congenital Diaphragmatic Hernia in a 17-Year-Old
Authors: Vivienne Vinton, Molly Posa, Maria N Kelly, Janice A Taylor, Jaclyn Otero
Journal: Case Rep Pediatr (2024)
MeSH terms: Case Reports

Congenital diaphragmatic hernia (CDH) is a rare anomaly resulting from incomplete closure of pleuroperitoneal canals during fetal development, often presenting with acute respiratory distress in neonates. This case report highlights a 17-year-old female with recurrent episodes of acute left upper quadrant (LUQ) pain and no history of trauma or dietary change. A computerized tomography (CT) scan taken during her second presentation to the emergency department led to a diagnosis of left-sided CDH. She later had a successful laparoscopic diaphragmatic repair surgery and has remained symptom-free for over a year. Late-presenting CDH indicates a rare subset of cases diagnosed after one month of age. Late presentations comprise 5-25% of cases and become increasingly rare with age. Unlike neonatal CDH, which is associated with several comorbidities, late presentations often manifest as a standalone anomaly. When the correct diagnosis is made, uncomplicated surgical repair yields excellent long-term outcomes. However, delayed and incorrect diagnoses can result in serious morbidity. Late-presenting CDH has diverse clinical presentations and can elude diagnostic imaging. As a result, there is a need for heightened clinical suspicion. This report aims to enhance awareness of late-presenting CDH and explore challenges to prompt, accurate diagnosis. Ultimately, this study implores clinicians to consider this condition in patients with unexplained respiratory or gastrointestinal symptoms.
Rare association between giant-cell aortitis and giant-cell aortic valvulitis
Authors: Georgina Del Cisne Jadán Luzuriaga, Ricardo Ribeiro Dias, José Augusto Duncan Santiago, Vagner Madrini, Walther Yoshiharu Ishikawa, Fabio Fernandes, Vera Demarchi Aiello
Journal: Autops Case Rep (2023)
Keywords: aorta, thoracic, aortic aneurysm, aortic diseases, aortic valve, aortic valve insufficiency
MeSH terms: Case Reports

Giant cell arteritis (GCA) is a type of chronic vasculitis that affects medium and large-caliber arteries, frequently related to aortic involvement and, consequently, to aneurysm formation. However, associated valvulitis with giant cells is uncommon. We describe the case of a 50-year-old female patient with aortic aneurysm and valvular insufficiency, whose anatomopathological examination revealed giant-cell aortic valvulitis associated with giant cell aortitis.
Renal Cell Carcinoma Metastasis to the Small Bowel: A Rare Finding 10 Years After Nephrectomy
Authors: David Toro Tole, Jonathon Bowden, Sheshang Kamath, Manmeet Kaur, Domenic LaPaglia
Journal: Cureus (2024)
Keywords: case report, ileum, metastasis, renal cell carcinoma, small bowel
MeSH terms: Case Reports

Renal cell carcinoma (RCC) most commonly metastasizes to the lung, lymph nodes, bone, and liver. RCC metastasizing to the small bowel is exceedingly rare (0.7%), and the ileum is the least likely site. We discuss the case of a 63-year-old male patient who presented with melena and a 10-kg unintentional weight loss in the preceding month 10 years after undergoing curative nephrectomy for RCC; he was found to have an ileal mass on CT imaging. He subsequently underwent a diagnostic gastroscopy and laparoscopy, later converted to a laparotomy, with bowel resection and anastomosis. The immunohistochemistry was consistent with RCC. This case report highlights the need for awareness about this rare but potential site of metastasis, which may present with gastrointestinal bleeding.