OpenMed/multicare-articles huggingface dataset:
Case report: Severe hypertension-induced priapism in an infant with unrecognized autosomal recessive polycystic kidney disease
Authors: Patrik Konopásek, Natálie Ptáčníková, Ledjona Toni, Jakub Zieg
Journal: Front Pediatr (2023)
Keywords: autosomal recessive polycystic kidney disease, hypertension, infant, priapism, sickle cell disease
MeSH terms: Case Reports

Priapism is a urologic emergency requiring prompt management. There are three types of priapism: stuttering (intermittent), non-ischemic (high-flow/arterial), and ischemic (low-flow/veno-occlusive). Here, we present the first case of an infant with recurrent non-ischemic priapism as the first sign of severe hypertension. An 11-month-old infant was admitted to the hospital for high-flow priapism. On admission, he was found to have severe hypertension that required a combination of five antihypertensive drugs; abdominal ultrasound showed polycystic kidneys, splenomegaly, and a parenchymal liver lesion. The priapism resolved spontaneously and did not recur again after the initiation of antihypertensive treatment. Genetic analysis confirmed autosomal recessive polycystic kidney disease (ARPKD). We found no other explanation for the priapism, such as genital trauma, hematologic disease, or anything else. Decreased nitric oxide (NO) bioavailability seen in patients with hypertension seems to be the principal mechanism of hypertension causing priapism. This hypothesis is supported by animal models of genetically modified mice lacking nitric oxide synthase. The same mechanism is thought to be the genesis of priapism and other complications, such as pulmonary hypertension, in patients with sickle cell disease. We present a case of severe hypertension-associated priapism in a child with unrecognized ARPKD. The endothelial dysfunction with decreased NO bioavailability seen in patients with hypertension may be the principal pathogenic mechanism.
A Rare Presentation of Collision Diffuse Large B-Cell Lymphoma and Hodgkin Lymphoma Treated with R-CHOP and Adjuvant Radiation Therapy
Authors: Batoul Mazraani, Batoul Nasser, Bailey Loving, Zachary N Awad, Thomas J Quinn
Journal: Cureus (2024)
Keywords: adjuvant radiation therapy, collision tumor, diffuse large b-cell lymphoma, hodgkin lymphoma, malignant lymphoma, non-hodgkin lymphoma, r-chop
MeSH terms: Case Reports

Collision tumors are rare neoplasms displaying two distinct cell populations developing in juxtaposition to one another without areas of intermingling. There are currently no guidelines for the recommended treatment for such rare collision cases. We herein report a unique case of a 45-year-old female who presented with a left-sided palpable inguinal lymph node. A subsequent excisional biopsy yielded a diagnosis of collision lymphoma (CL) of nodular sclerosing Hodgkin lymphoma (HL) and germinal center diffuse large B-cell lymphoma (DLBCL). This case report highlights the challenges in managing CL and the potential efficacy of cyclophosphamide, doxorubicin, vincristine, prednisone, and rituximab regimen (R-CHOP) and adjuvant radiation therapy (RT) in treating this rare condition. Our goal is to enrich the literature with our case on CL in an attempt to progress to a path of ultimately establishing a definitive treatment approach to CL of DLBCL and HL.
An early Indian experience with benralizumab - A compendium on severe asthma cases: a case series
Authors: Deepak Talwar, Manoj Yadav, Nagarjuna Maturu, Rahul Sharma, Priti Meshram, Soumya Das
Journal: F1000Res (2023)
Keywords: asthma, benralizumab, eosinophilia, interleukin-5, monoclonal antibodies
MeSH terms: Asthma / drug therapy, Quality of Life, Antibodies, Monoclonal, Antibodies, Monoclonal, Humanized / therapeutic use, Humans, benralizumab, Antibodies, Monoclonal, Humanized, Antibodies, Monoclonal

Background: Severe eosinophilic asthma (SEA), one of the phenotypes of asthma that is characterized by elevated blood eosinophil counts, is a common cause of uncontrolled asthma. Patients with SEA often experience severe persistent symptoms and have frequent exacerbations despite optimal inhaler therapy. They also have poor lung function and quality of life (QoL). Benralizumab (Fasenra), a monoclonal antibody, has been approved for managing cases of SEA. This series of six cases, the first of its kind from India, aims to add to the real-world evidence of benralizumab in India. Methods: Benralizumab 30 mg (once in four weeks for the first three doses followed by a dose every eight weeks for two years) was administered in six patients with symptoms of cough, breathlessness on exertion, and wheezing, diagnosed with SEA. The following were the endpoints assessed: (i) overlap between high immunoglobulin E (IgE) and eosinophilic asthma; (ii) reduction of exacerbations; (iii) withdrawal of oral corticosteroids; and (iv) improvement in lung function and QoL. Results: In all cases, management with benralizumab resulted in optimal clinical and functional improvement, a decline in systemic steroid use, and improved QoL. Conclusions: The cases presented here are the first of their kind in the Indian asthmatic population with all SEA patients demonstrating significant improvement in symptoms with the use of benralizumab.
Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series
Authors: Aysylu Murtazina, Artem Borovikov, Andrey Marakhonov, Artem Sharkov, Inna Sharkova, Alena Mirzoyan, Sviatlana Kulikova, Ralina Ganieva, Viktoriia Zabnenkova, Oksana Ryzhkova, Sergey Nikitin, Elena Dadali, Sergey Kutsev
Journal: Front Pediatr (2024)
Keywords: chat, cms, case report, congenital myasthenic syndrome, mild phenotype
MeSH terms: Case Reports

Congenital myasthenic syndrome with episodic apnea is associated with pathogenic variants in the CHAT gene. While respiratory disorders and oculomotor findings are commonly reported in affected individuals, a subset of patients only present with muscle weakness and/or ptosis but not apneic crises. In this case series, we describe five individuals with exercise intolerance caused by single nucleotide variants in the CHAT gene. The age of onset ranged from 1 to 2.5 years, and all patients exhibited a fluctuating course of congenital myasthenic syndrome without disease progression over several years. Notably, these patients maintained a normal neurological status, except for the presence of abnormal fatigability in their leg muscles following prolonged physical activity. We conducted a modified protocol of repetitive nerve stimulation on the peroneal nerve, revealing an increased decrement in amplitude and area of compound muscle action potentials of the tibialis anterior muscle after 15-20 min of exercise. Treatment with 3,4-diaminopyridine showed clear improvement in two children, while one patient experienced severe adverse effects and is currently receiving a combination of Salbutamol Syrup and pyridostigmine with slight positive effects. Based on our findings and previous cases of early childhood onset with muscle fatigability as the sole manifestation, we propose the existence of a mild phenotype characterized by the absence of apneic episodes.
Case report: A pediatric case of repeated false-positive urea breath test for Helicobacter pylori without decreased gastric acid secretion
Authors: Masafumi Nishino, Toshihiko Kakiuchi, Kayoko Fukuda, Masato Yoshiura
Journal: Front Med (Lausanne) (2023)
Keywords: helicobacter pylori, autoimmune gastritis, child, urea breath test, urease activity
MeSH terms: Case Reports

The urea breath test (UBT) is often used to diagnose Helicobacter pylori infection and for its eradication. However, this text can give positive results even for other urease-active bacteria other than H. pylori. Even after the successful eradication of H. pylori, the presence of other urease-active bacteria in the gut and oral cavity can lead to positive UBT results in patients with decreased gastric acid secretion. Herein, a 15-year-old boy was diagnosed with H. pylori infection through the testing and treatment program for H. pylori for third-year junior high-school students in Saga Prefecture initiated in 2016. He underwent triple therapy comprising vonoprazan; however, UBT was found to be positive even after therapy. The results remained positive even after fourth-line eradication therapy. Stool antigen, PCR using gastric fluid, microscopy, culture, and rapid urease tests were all negative. Pepsinogen levels were normal, and none of the findings suggested autoimmune gastritis. Gastric microflora analysis revealed oral flora showing urease activity. UBT is considered useful for determining the successful eradication of H. pylori; however, it may give false-positive results for both H. pylori infection and eradication judgment. Although the patient did not have autoimmune gastritis or decreased gastric acid secretion, it is presumed that oral commensal bacteria showing urease activity inhabited the stomach, resulting in the persistently positive UBT results. In conclusion, repeated false-positive UBT results for H. pylori may occur even without gastric acid hyposecretion. If H. pylori eradication is unsuccessful based on UBT, additional test by stool H. pylori antigen tests should be considered.
Primary extraskeletal osteosarcoma of the post-hepatic caudal vena cava in a dog-Case report
Authors: Giovanni Tremolada, Lynn Griffin, Alison C Manchester, Tawfik Aboellail, Janis M Lapsley, Laura E Selmic
Journal: Front Vet Sci (2023)
Keywords: canine, dog, extraskeletal osteosarcoma, osteosarcoma, vena cava
MeSH terms: Case Reports

Extraskeletal osteosarcoma (EOSA) in dogs is a rare malignant mesenchymal tumor of somatic soft tissues or more commonly visceral organs with a poor prognosis. In dogs, EOSAs have been described as arising from multiple locations, but differently from humans, never from a main vessel. In this report, we describe the first case of an EOSA arising from the post-hepatic caudal vena cava in a 7-year-old male neutered mix breed dog. This report focuses on the description of the diagnostic challenges to obtain a preoperative diagnosis, highlights the importance of histopathology for a correct diagnosis, and introduces a new differential diagnosis for an animal presenting with a suspected thrombus of the vena cava.
Language lateralization mapping (reversibly) masked by non-dominant focal epilepsy: a case report
Authors: Belén Abarrategui, Valeria Mariani, Michele Rizzi, Luca Berta, Pina Scarpa, Flavia Maria Zauli, Silvia Squarza, Paola Banfi, Piergiorgio d'Orio, Francesco Cardinale, Maria Del Vecchio, Fausto Caruana, Pietro Avanzini, Ivana Sartori
Journal: Front Hum Neurosci (2023)
Keywords: case report, epilepsy, functional mri, language mapping, stereo-eeg
MeSH terms: Case Reports

Language lateralization in patients with focal epilepsy frequently diverges from the left-lateralized pattern that prevails in healthy right-handed people, but the mechanistic explanations are still a matter of debate. Here, we debate the complex interaction between focal epilepsy, language lateralization, and functional neuroimaging techniques by introducing the case of a right-handed patient with unaware focal seizures preceded by aphasia, in whom video-EEG and PET examination suggested the presence of focal cortical dysplasia in the right superior temporal gyrus, despite a normal structural MRI. The functional MRI for language was inconclusive, and the neuropsychological evaluation showed mild deficits in language functions. A bilateral stereo-EEG was proposed confirming the right superior temporal gyrus origin of seizures, revealing how ictal aphasia emerged only once seizures propagated to the left superior temporal gyrus and confirming, by cortical mapping, the left lateralization of the posterior language region. Stereo-EEG-guided radiofrequency thermocoagulations of the (right) focal cortical dysplasia not only reduced seizure frequency but led to the normalization of the neuropsychological assessment and the "restoring" of a classical left-lateralized functional MRI pattern of language. This representative case demonstrates that epileptiform activity in the superior temporal gyrus can interfere with the functioning of the contralateral homologous cortex and its associated network. In the case of presurgical evaluation in patients with epilepsy, this interference effect must be carefully taken into consideration. The multimodal language lateralization assessment reported for this patient further suggests the sensitivity of different explorations to this interference effect. Finally, the neuropsychological and functional MRI changes after thermocoagulations provide unique cues on the network pathophysiology of focal cortical dysplasia and the role of diverse techniques in indexing language lateralization in complex scenarios.
Optimizing Care for High-Risk Multiple Pregnancy with POCUS - A Case of Quadruplet Pregnancy Early Diagnosis
Authors: Bernardo Vidal Pimentel, Christopher Tsoutsoulas, Kristin Lythgoe, Frank Myslik
Journal: POCUS J (2023)
Keywords: in vitro fertilization, multiple pregnancy, obstetrics and gynecology, point-of-care ultrasound (pocus), quadruplet pregnancy
MeSH terms: Case Reports

Managing multiple pregnancies is challenging and requires careful evaluation. Point of care ultrasound (POCUS) has emerged as a potentially crucial tool in assessing suspected first-trimester pregnancies. However, its role in evaluating multiple pregnancies remains uncertain. We present the case of a 36-year-old Ghanaian female who presented with acute vaginal bleeding after undergoing in vitro fertilization. A bedside transabdominal POCUS identified four intrauterine gestations with fetal poles and cardiac activity, suggesting a quadruplet viable pregnancy. A subsequent transvaginal ultrasound confirmed the findings. The patient was discharged with a follow-up appointment with an Obstetrician-Gynecologist. This case highlights the significance of POCUS in early pregnancy diagnosis, facilitating accurate identification and appropriate referral for further management. It also demonstrates the utility of POCUS in determining gestational age and viability. To our knowledge, no published case reports specifically address the diagnosis of a quadruplet pregnancy, emphasizing the role of POCUS in optimizing care for high-risk multiple pregnancies.
Fiducial markers in adjuvant setting for a patient affected by endometrial cancer: a case report
Authors: Francesca Titone, Stefano Restaino, Eugenia Moretti, Gianluca Vullo, Alice Poli, Martina Arcieri, Chiara Paglietti, Fabrizio Tonetto, Giuseppe Parisi, Elisa Barbui, Marco Trovò, Giovanni Scambia, Lorenza Driul, Giuseppe Vizzielli
Journal: Front Oncol (2023)
Keywords: igrt (image guided radiation therapy), adjuvant treatment, endometrial cancer, fiducial marker (fm), radiotherapy
MeSH terms: Case Reports

Introduction:
Intermediate-high and high-risk endometrial cancer often require adjuvant treatments such as radiotherapy (RT) or brachitherapy (BT) to reduce the risk of loco-regional relapse. Inter- and intra-fraction variability of internal pelvic anatomy are possibly the largest source of error affecting pelvic RT. The implantation of Fiducial Makers (FMs) in the vaginal cuff of patients receiving RT or BT could help patient daily setup, image guidance and intra-fraction detection of the radiation targets.
Clinical case:
We have evaluated the case of an 80-year-old woman treated with surgery for endometrioid adenocarcinoma G2 (stage pT1b Nx LVSI+) who underwent adjuvant pelvic IMRT after the implantation of vaginal cuff FMs.
Ct-simulation treatment planning and igrt strategy:
Patient underwent planning CT scan 10 days after FMs implantation. RT consisted of 45Gy in 25 daily fractions to pelvic lymph nodes and surgical bed with simultaneous integrated boost up to 52.5Gy to the vaginal cuff and the upper two-thirds of the vagina. Cone beam Computed Tomography (CBCT) was acquired prior to every RT fraction for IGRT. Bladder and rectum were re-contoured on every CBCTs. Bladder and rectal volumes and median shifts were reported on a prospective database to quantify the impact of the pelvic organ variations.
Results:
The patient reported no discomfort during the FMs implantation, and no complications were seen. No evidence of FMs migration was reported. Bladder and rectal volumes planned contours were 245 and 55.3cc. Median bladder volumes for approved and "not acceptable" CBCTs were 222cc (range: 130-398) and 131cc (range: 65-326), respectively. Median rectal volumes for approved and "not acceptable" CBCTs were 75cc (range: 58-117) and 90cc (range: 54-189), respectively. The median values of the anterior-posterior, superior-inferior, lateral direction shifts were 3.4, 1.8 and 2.11 mm, respectively.
Conclusion:
In our clinical case, the implantation of FMs in the vaginal cuff of a patient who underwent pelvic adjuvant RT was well tolerated and reported no complications. The use of IGRT procedures based on FMs surrogating the vaginal vault may reduce inter-observer variability and pave the way for adaptive strategies or stereotactic treatments as external beam pelvic boost in gynecological field.
Physiotherapeutic Approach for Paraparesis Resulting From L2-S1 Disc Bulge Along With Diabetic Neuropathy: A Case Report
Authors: Reva Rajurkar, Pallavi Harjpal, Priya Tikhile
Journal: Cureus (2024)
Keywords: diabetic neuropathy, disc bulge, paraparesis, rehabilitation, sensory reeducation
MeSH terms: Case Reports

A degenerative disc disease is characterized by osteophytes, disc space reduction, nerve compression and discomfort are all symptoms of disc bulging. Diabetic neuropathy, a condition leading to significant health issues, involves a sensory dysfunction initiating in the lower extremities and progressing to pain. In the present case, a 61-year-old retired physical training teacher came to the hospital with complaints of difficulty in walking, sitting, and standing in the past two years. The patient also complained of a tingling sensation in the upper and lower limbs, low back pain, and body stiffness. The patient has a known case of intervertebral disc prolapse at L2-S1 level, two years back. Patient had a history of diabetes mellitus type 2, hypertension, and hypothyroidism for the past three years. The study delves into the detailed evaluation, customized treatment plan, and rehabilitation strategies employed to meet the patient's condition. It emphasizes the value of a multidisciplinary approach, including physical therapy, in the treatment of complicated musculoskeletal and neurological illnesses, intending to improve the patient's mobility, functionality, and overall quality of life.
Case Report: unexpected cause of cyanosis in an infant after acute exposure to high altitude-severe tricuspid regurgitation secondary to tricuspid valve prolapse
Authors: Yaru Cui, Lixia Yang, Ping Wu, Shuran Shao, Shuhua Luo, Kaiyu Zhou, Xiaoliang Liu, Chuan Wang, Hongyu Duan
Journal: Front Cardiovasc Med (2024)
Keywords: chordae tendinea, high altitude, infant, rupture, surgery, tricuspid regurgitation, tricuspid valve prolapse
MeSH terms: Case Reports

Background:
Severe tricuspid regurgitation (TR) causing cyanosis with patent foramen ovale (PFO) and right-to-left atrial shunting requires a precise diagnosis for optimal therapy. Tricuspid valve prolapse (TVP) can lead to TR and is sometimes overlooked, especially in complex cases with factors like pulmonary hypertension (PH). We present an infant with cyanosis and profound TR after high-altitude exposure, initially misattributed to PH but found to be primarily due to spontaneous chordae tendineae rupture and TVP. This case underscores the challenges in diagnosing TR-induced cyanosis.
Case presentation:
The 3-month-old infant rapidly developed cyanosis, hypoxemia, right atrial enlargement, severe tricuspid regurgitation (TR), and patent foramen ovale (PFO) shunting after high-altitude exposure. Although echocardiography revealed tricuspid valve prolapse (TVP), initial consideration linked TR and right-to-left shunting to pulmonary hypertension (PH) due to the temporal correlation with rapid altitude exposure. Despite hemodynamic stability and the absence of respiratory distress after respiratory support and combined PH medication therapy, the persistent hypoxemia did not reverse as expected. This treatment outcome and repeated echocardiograms reminded us that TR was primarily caused by TVP rather than PH alone. Intraoperative exploration confirmed that TVP was caused by a rupture of TV chordae tendineae and anterior papillary muscle head, and the chordae tendineae/papillary muscle connection was reconstructed. After surgery, this patient was noncyanotic with an excellent long-term prognosis, a trivial TR with normal TV function being observed echocardiographically.
Conclusions:
TR-induced cyanosis can be not only a consequence of PH and right-sided heart dilation but also a primary condition. Repetitive reassessment should be undertaken with caution, particularly when patients are not improving on therapy in the setting of conditions known to predisposition to secondary TR. Since TVP caused by rupture of the chordae or papillary muscles is rare but fatal in children, early diagnosis is clinically substantial to proper management and satisfactory long-term outcomes.
Case report: Fatal overwhelming post-splenectomy infection in a patient with metastatic angiosarcoma treated with immunotherapy
Authors: Carlos Torrado, Mehmet A Baysal, Abhijit Chakraborty, Becky L Norris, Fareed Khawaja, Apostolia M Tsimberidou
Journal: Front Immunol (2024)
Keywords: ctla4, opsi, immuno-therapy, immunology, infection, splenectomy
MeSH terms: Hemangiosarcoma / therapy, Liver Neoplasms / secondary, Liver Neoplasms / therapy, Splenectomy / adverse effects, Splenic Neoplasms / secondary, Splenic Neoplasms / therapy, Case Reports, Adult, CTLA-4 Antigen / antagonists & inhibitors, Fatal Outcome, Humans, Immune Checkpoint Inhibitors / adverse effects, Immune Checkpoint Inhibitors / therapeutic use, Immunotherapy / adverse effects, Immunotherapy / methods, Male, Pneumococcal Infections / etiology, Programmed Cell Death 1 Receptor / antagonists & inhibitors, Immune Checkpoint Inhibitors, Programmed Cell Death 1 Receptor, CTLA-4 Antigen

A patient in his 40s with splenic angiosarcoma metastatic to the liver underwent splenectomy, chemotherapy, and partial hepatectomy before being treated on a clinical trial with CTLA4 and PD1 inhibitors. He had received pneumococcal and meningococcal vaccines post-splenectomy. On week 10, he developed grade 3 immune-related colitis, successfully treated with the anti-tumor necrosis factor-alpha inhibitor infliximab and steroids. After 4 cycles of treatment, scans showed partial response. He resumed anti-PD1 therapy, and 6 hours after the second dose of anti-PD1 he presented to the emergency room with hematemesis, hematochezia, hypotension, fever, and oxygen desaturation. Laboratory tests demonstrated acute renal failure and septicemia (Streptococcus pneumoniae). He died 12 hours after the anti-PD1 infusion from overwhelming post-splenectomy infection (OPSI). Autopsy demonstrated non-viable liver tumors among other findings. In conclusion, patients undergoing immunotherapy and with prior history of asplenia should be monitored closely for OPSI as they may be at increased risk.