OpenMed/multicare-articles huggingface dataset:
Primary signet ring cell carcinoma of the cervix: case report and literature review
Authors: Milagros Abad-Licham, Christian Cotrina, Andric Guerrero, Katherine Gómez, Juan Astigueta
Journal: Ecancermedicalscience (2024)
Keywords: carcinoma, cervix, signet ring cell
MeSH terms: Case Reports

Objective:
To report an infrequent case of primary signet ring cell carcinoma of the cervix (PSRCC), review the literature and evaluate the clinicopathological characteristics.
Material and methods:
A 51-year-old female patient, with 3 years of disease characterised by gynaecologic bleeding and pelvic pain. On examination, cervix replaced by tumour and infiltrated parametria; with cytology and histology of adenocarcinoma with cells in a signet ring pattern. Disease extension studies were negative. Classified as PSRCC stage IIIB, chemotherapy and radiotherapy were indicated, but the patient died a month later. The bibliographic search included publications up to July 2023.
Results:
32 cases with a mean age of 47.6 years were identified. The most frequent symptoms were uterine bleeding and abdominal and pelvic pain. The initial stages were treated surgically, some with adjuvant chemotherapy and/or radiotherapy, with favourable responses; a difference from advanced cases. The average survival was 17.6 months.
Conclusion:
PSRCC is rare, with 32 cases reported according to the review. The expression with immunohistochemical and molecular techniques for the human papilloma virus can help confirm the gynaecological primary, but its diagnosis is one of exclusion, since its morphological pattern is related to other primaries, mainly digestive.
An infant with testicular Fetus-in-fetu in the abdominal cavity: rare case report
Authors: Mingshuang Luo, Geng Li, Heyun Gao, Wen Zhang
Journal: Front Pediatr (2024)
Keywords: fetus-in-fetu, abdominal cavity, clinical manifestation, teratoma, testicular
MeSH terms: Case Reports

Background:
Fetus-in-fetu (FIF) represents an exceedingly rare disease, characterized as an encapsulated and pedunculated vertebrate neoplasm, typically lacking cerebral tissue. The prevalence shows no gender preference. Notably, FIF can cause compressive damage to adjacent organs and tissues, potentially impeding the host's development and maturation.
Case presentation:
A four-month-old male infant was identified, during pregnancy, to have a left-sided pelvic mass on ultrasound. Subsequent evaluations suggested the mass could be a FIF, exhibiting active movement. Surgical exploration revealed that the mass's left boundary was connected to the left spermatic cord and vas deferens. Pathological analysis post-surgery showed the absence of testicular tissue, but the presence of skin tissue, cartilage-like structures, and gastrointestinal elements. Additionally, localized tissue resembling vertebrae confirmed the diagnosis of testicular FIF.
Conclusion:
An intraperitoneal testicular FIF is extremely rare, with its cause still unknown. This groundbreaking report details the diagnosis and management of such a case. Following a FIF diagnosis, prompt surgical removal is crucial, along with regular follow-up using ultrasound and tumor markers.
Case Report: Focal, generalized, or both: does generalized network involvement preclude successful epilepsy surgery?
Authors: Cathy K Cui, Wui-Kwan Wong, Chong H Wong, Deepak Gill, Michael W K Fong
Journal: Front Netw Physiol (2024)
Keywords: epilepsy surgery, epileptic networks, frontal lobe epilepsy, intracranial electroencephalography, semiology
MeSH terms: Case Reports

We present two cases with focal seizures where scalp electroencephalography (EEG) had prominent features of a developmental and epileptic encephalopathy (DEE): Case 1: a 17-year-old male with complex motor seizures whose EEG demonstrated a slow spike-and-wave pattern and generalized paroxysmal fast activity (GPFA). Case 2: a 12-year-old male with startle-induced asymmetric tonic seizures whose EEG also had a slow spike-and-wave pattern. Both patients had intracranial EEG assessment, and focal cortical resections resulted in long-term seizure freedom and resolution of generalized findings. These cases exemplify patients with focal epilepsy with networks that share similarities to generalized epilepsies, and importantly, these features did not preclude curative epilepsy surgery.
Combination treatment of pembrolizumab with DC-CIK cell therapy for advanced hepatocellular carcinoma: A case report
Authors: Shao M Huang, Long-Bin Jeng, Woei-Cherng Shyu, Hung-Yao Chen
Journal: Biomedicine (Taipei) (2023)
Keywords: combination therapy, dc-cik, hepatocellular carcinoma, immune checkpoint inhibitor, pembrolizumab
MeSH terms: Case Reports

Background:
Recently, immunotherapy has emerged as a promising method for advanced HCC treatment. There are several clinical trials and meta-analyses of immune checkpoint inhibitors and immune cell therapy, but clinical evidence on the combination of these two therapies is lacking.
Case description:
A 66-year-old man with chronic hepatitis B-related cirrhosis complained of acute abdominal pain in an emergency department of a hospital. On exams, there was a palpable mass in the right upper quadrant of his abdomen. Contrast-enhanced abdominal computed tomography showed a large tumor in the right lobe, 13 cm × 17 cm in size, and right portal vein thrombosis. The alpha-fetoprotein (AFP) level was 30,905 mg/dL. Therefore this patient was diagnosed with BCLC stage C hepatocellular carcinoma (HCC). He underwent trans-arterial chemo-embolization (TACE), abdominal radiotherapy, nivolumab, and lenvatinib. His disease had been under control until two years later, the disease progressed with multiple lung metastases, and his AFP level rose from around 1000 to 17,000 ng/ml. At this stage, he underwent new combination immunotherapy in January 2022. He used pembrolizumab (100 mg) first, and the AFP level decreased by 600 ng/ml daily. Then he received DC-CIK cell therapy two weeks after using pembrolizumab, and the AFP level declined to 900 ng/ml a day. Unfortunately, severe pneumonitis and tension pneumothorax developed after therapy. The patient denied undergoing further treatment and expired peacefully.
Conclusion:
The previous in-vivo study found that combination immunotherapy can improve tumor control in the mice model. Besides, in previous clinical studies, the level of AFP may be a surrogate marker of tumor response. Therefore we thought the more rapidly declined level of AFP was the clinical evidence of the synergistic effect of checkpoint inhibitors combined with cell therapy in HCC treatment.
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Syndrome
Authors: Karel Mercken, Brecht Van Berkel, Liesbeth De Wever
Journal: J Belg Soc Radiol (2024)
Keywords: hlrcc, cutaneous leiomyoma, fumarate hydratase deficiency, renal cell carcinoma, uterine leiomyoma
MeSH terms: Case Reports

In hereditary leiomyomatosis and renal cell carcinoma syndrome, fumarate hydratase-deficient renal cell carcinomas typically present as aggressive, unilateral, often cystic masses with heterogeneous enhancement. These tumors can metastasize early, making appropriate imaging and staging critical for diagnosis and management. Teaching point: When a renal lesion suspected of RCC is identified in a patient with cutaneous and uterine leiomyomas, HLRCC should be evaluated, which is important for future genetic counseling.
Pediatric autoimmune retinopathy and optic neuropathy: a case report and a review of the literature
Authors: Hersh Varma, Kevin X Zhang, Veeral S Shah
Journal: Front Ophthalmol (Lausanne) (2023)
Keywords: anti-enolase, anti-recoverin, autoimmune optic neuropathy, autoimmune retinopathy, autoimmune-related retinopathy and optic neuropathy (arron), cancer-associated retinopathy (car), melanoma-associated retinopathy (mar)
MeSH terms: Case Reports

Purpose:
The purpose of the study was to present a rare case of pediatric bilateral optic neuropathy and retinopathy, which was consistent with a diagnosis of autoimmune retinopathy. We also reviewed the most current literature and phenotypes associated with reported pediatric cases of autoimmune retinopathy.
Design:
The design of the study was a case report, with a retrospective case series literature review.
Subjects:
This study incorporated data from six subjects, with one presenting as an original case report and five being identified from the English-language literature published to date.
Materials and methods:
The materials and methods involved a descriptive analysis of fundus findings, electrophysiologic testing, serum autoantibody testing, optical coherence tomography (OCT), brain MRI scanning, and fluorescein angiography, which were performed where available.
Main outcome measures:
The study evaluated the clinical presentation and treatment outcomes of all subjects and followed their visual function over time.
Results:
All six subjects had retinal abnormalities that were documented on imaging, while five out of the six subjects had optic nerve abnormalities. Electrophysiologic testing was performed on three subjects, all of whom recorded abnormal results. An underlying neoplastic disorder was described for four subjects. Serum autoantibody testing results were available for four subjects. The serum testing included using antibodies against a 22-kDa antigen, a 35-kDa optic nerve-derived antigen, a 62-kDa antigen, enolase, recoverin, tubulin, and pyruvate kinase M2. Our subject presented 12 years after resection of a ganglioglioma with asymmetric bilateral vision loss, disc edema in one eye, advanced disc pallor in the fellow eye, and bilateral subtle retinal infiltrates, despite having a normal fluorescein angiogram. OCT demonstrated asymmetric ganglion cell layer thinning, which is consistent with the vision loss. Our subject also had abnormal brain MRI findings of widespread pachymeningeal enhancement, but he had a normal cerebrospinal fluid composition. He was initially treated with high-dose pulse steroids, followed by intravenous immunoglobulin therapy. He experienced partial visual recovery in both eyes.
Conclusions:
Pediatric autoimmune retinopathy and optic neuropathy are rare diseases that can present with unique signs and symptoms. In pediatric patients who present with symptoms of subacute progressive vision loss with negative inflammatory workups, a history of prior neoplasm, and/or clinical findings of progressive retinopathy or optic neuropathy, an autoimmune process should be considered in the differential.
Prenatal diagnosis of Silver-Russell syndrome with 8q12 deletion including the PLAG1 gene: a case report and review
Authors: Ke Wu, Yuying Zhu, Qiumin Zhu
Journal: Front Genet (2024)
Keywords: plag1, silver–russell syndrome, chromosome 8q12, loss-of-function, obstetrics department
MeSH terms: Case Reports

Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder. A retrospective analysis predicted that the live birth prevalence of SRS in Estonia is 1:15,886 [Yakoreva et al., Eur J Hum Genet, 2019, 27(11), 1649-1658]. The most common causative genetic mechanism in the proband is loss of paternal methylation in the imprinted control region 1 (ICR1) at 11p15.5 chromosome. A few studies suggested that inherited or de novo loss-of-function alterations of the PLAG1 gene, including the whole-gene deletion and intragenic pathogenic variants, could cause a rare type of SRS. To date, less than 20 unrelated PLAG1-related SRS cases have been reported, and the clinical information about these cases is limited. We report the first prenatal case of SRS with 8q12 deletion (including the PLAG1 gene). The fetus presented with intrauterine growth retardation, small for gestational age, relative macrocephaly at birth, and a protruding forehead. Unlike classical SRS cases, the fetus had micrognathia and did not show body asymmetry. We hope that the literature review in this study provides new insights into genotype-phenotype relationships of PLAG1-related SRS.
A Case of Sinus Venosus Atrial Septal Defect: Physical Examination as a Diagnostic Clue
Authors: Ayaka Oe, Sakiko Honda, Michiyo Yamano, Tatsuya Kawasaki
Journal: Cureus (2024)
Keywords: atrial septal defect, diagnosis, heart sound, physical examination, sinus venosus
MeSH terms: Case Reports

An atrial septal defect (ASD) may be detected later in life due to its asymptomatic status. We report a case of superior sinus venosus ASD, a rare type of ASD, in which bedside physical examination was useful for the diagnosis. A 72-year-old male was referred to cardiology during the treatment of a cerebral infarction. On examination, a right ventricular heave, a split-second heart sound with an increased pulmonary component, and a systolic ejection murmur in the pulmonary region were noted. Transthoracic echocardiography showed a systolic pulmonary artery pressure of 50 mmHg with right heart enlargement, but there was no shunt flow. Because an agitated saline contrast study was positive, transesophageal echocardiography was performed and demonstrated direct flow between the left atrium and superior vena cava. Our report highlights the importance of considering ASD, such as sinus venosus type, even in the absence of transthoracic echocardiographic findings suggestive of this condition, when patients present with a bedside physical examination consistent with ASD.
Malignant Airway Stenosis Successfully Treated Using a Combination of Interventional Pulmonology, Chemotherapy, and Radiotherapy
Authors: Jose N Sancho-Chust, Anastasiya Torba, Eusebi Chiner
Journal: Case Rep Pulmonol (2024)
MeSH terms: Case Reports

Interventional pulmonology can be helpful in cases of malignant airway stenosis. We present a 73-year-old man diagnosed with lung cancer who presented with symptomatic airway stenosis caused by a large endobronchial tumor. Oncological treatment was started with chemotherapy, radiotherapy, and a multimodality bronchoscopic approach using balloon bronchoplasty, electrosurgery, and argon plasma coagulation. Response evaluation showed relief of symptoms, disappearance of the endobronchial tumor, and complete resolution of the airway stenosis.
IgA vasculitis induced by carboplatin + nab-paclitaxel + pembrolizumab in a patient with advanced lung squamous cell carcinoma: a case report
Authors: Yuto Terashima, Masaru Matsumoto, Saeko Ozaki, Michiko Nakagawa, Shun Nakagome, Yasuhiro Terasaki, Hiroki Iida, Ryotaro Mitsugi, Eri Kuramochi, Naoko Okada, Tomoyasu Inoue, Satoru Matsuki, Shingo Kitagawa, Aya Fukuizumi, Naomi Onda, Susumu Takeuchi, Akihiko Miyanaga, Kazuo Kasahara, Masahiro Seike
Journal: Front Immunol (2024)
Keywords: iga vasculitis, immune checkpoint inhibitor, immune-related adverse event, non-small-cell lung cancer, pembrolizumab
MeSH terms: Albumins / administration & dosage, Albumins / adverse effects, Antibodies, Monoclonal, Humanized / administration & dosage, Antibodies, Monoclonal, Humanized / adverse effects, Antibodies, Monoclonal, Humanized / therapeutic use, Antineoplastic Combined Chemotherapy Protocols / adverse effects, Antineoplastic Combined Chemotherapy Protocols / therapeutic use, Carboplatin / administration & dosage, Carboplatin / adverse effects, Carboplatin / therapeutic use, Carcinoma, Squamous Cell / drug therapy, Lung Neoplasms / drug therapy, Paclitaxel / administration & dosage, Paclitaxel / adverse effects, Paclitaxel / therapeutic use, Case Reports, Aged, Humans, IgA Vasculitis / chemically induced, IgA Vasculitis / diagnosis, Immune Checkpoint Inhibitors / adverse effects, Immunoglobulin A, Male, Carboplatin, Paclitaxel, Antibodies, Monoclonal, Humanized, pembrolizumab, 130-nm albumin-bound paclitaxel, Albumins, Immunoglobulin A, Immune Checkpoint Inhibitors

A 73-year-old man with lung squamous cell carcinoma was administered carboplatin + nab-paclitaxel + pembrolizumab for four cycles. Subsequently, he presented with multiple purpuras on his extremities, joint swelling on his fingers, abdominal pain, and diarrhea, accompanied by acute kidney injury (AKI), increased proteinuria, hematuria, and elevated C-reactive protein levels. Skin biopsy showed leukocytoclastic vasculitis as well as IgA and C3 deposition in the vessel walls. Based on these findings, the patient was diagnosed with IgA vasculitis as an immune-related adverse event (irAE) induced by carboplatin + nab-paclitaxel + pembrolizumab. After discontinuation of pembrolizumab and glucocorticoids, the symptoms immediately resolved. Regular monitoring of skin, blood tests, and urinalysis are necessary, and the possibility of irAE IgA vasculitis should be considered in cases of purpura and AKI during treatment with immune checkpoint inhibitors.
Acute urinary retention due to corpus cavernosum penile metastasis from lung adenocarcinoma after targeted therapy: a case report and review of the literature
Authors: Wei Yan, Hui Fu, Huiqun Liu, Zhentian Liu, Xueliang Qi, Tanxiu Chen
Journal: Front Oncol (2024)
Keywords: adenocarcinoma of lung, case report, metastasis, penile, targeted therapy
MeSH terms: Case Reports

Background:
Metastasis in penile corpus cavernosum from adenocarcinoma of lung is a rare but fatal disease, which was reported in cases without series studies. It causes various clinical symptoms seriously affecting the quality of life.
Case presentation:
A 72-year-old male smoker patient, who had a history of adenocarcinoma of lung after targeted therapy 36 months before, was admitted to Jiangxi Cancer Hospital because of presenting with aggressive dysuria and penis pain for one hour. A Foley catheter was inserted into the patient's bladder with difficulty. Immediately do a bladder puncture. Emergency pelvic computed tomography (CT): a soft tissue nodule of 1.1 cm×1.4 cm was found in the cavernous area of the middle part of the penis, and the proximal urethra was dilated with a wide diameter of about 1.5 cm. The diagnosis of metastatic lung adenocarcinoma from the primary was made by CT-guided biopsy.
Conclusion:
The penis may be a site of metastasis from primary lung cancer, especially for old patient. Metastasis to the penis usually indicates that the primary lung cancer is at an advanced stage and the prognosis is very poor. More research is necessary to understand the underlying mechanism of adenocarcinoma of lung metastasis.
Accidental Intravenous Administration of Simethicone in a 4-Year-Old Patient: A Case Report
Authors: Agnė Lozovskytė, Robertas Badaras, Gabija Laubner Sakalauskienė
Journal: Acta Med Litu (2024)
Keywords: accidental intravenous administration, medication error, respiratory distress ir pediatric case, simethicone
MeSH terms: Case Reports

Simethicone is an antiflatulent medication exclusively administered orally, thus its systemic effects remain unknown. We present a case of an inadvertent intravenous administration of simethicone to a 4-year-old patient, precipitating respiratory difficulty, cyanosis, and altered mental status. The patient's condition improved rapidly with appropriate interventions, leading to discharge in a fully recovered state. To date, only one documented instance of intravenous simethicone administration exists in medical literature.
Even a single positive blood culture may matter - A case of prosthetic valve infective endocarditis caused by Corynebacterium kroppenstedtii
Authors: Adam Cewers, Torgny Sunnerhagen, Patrik Gilje, Fredrik Wannheden, Jonas Bläckberg, Per Wierup, Mårten Larsson, Magnus Rasmussen
Journal: IDCases (2024)
Keywords: infective endocarditis, surgery, valve culture
MeSH terms: Case Reports

Corynebacterium is a skin commensal bacterium that can contaminate blood cultures. It is however also a rare cause of infective endocarditis (IE). Here we report a case of Corynebacterium kroppenstedtii aortic prosthesis IE in a 76-year-old man where only a single blood culture bottle was positive initially. C. kroppenstedtii is a very rare cause of IE, only reported two times previously. The diagnosis in our case was confirmed by repeated blood culture positivity and eventually by detection of DNA from C. kroppenstedtii on heart valves after valve exchange surgery. At surgery an aortic root abscess was detected and the valve was replaced by a homograft. Recovery was complicated by antibiotic-induced nephrotoxicity and treatment was concluded with moxifloxacin in combination with rifampicin. Recovery was uneventful. This case demonstrates that growth in even a single blood culture bottle may be important in patients with prosthetic heart valves.
Case report: Nerve fiber regeneration in children with melanocortin 4 receptor gene mutation related obesity treated with semaglutide
Authors: Hoda Gad, Idris Mohammed, Hajar Dauleh, Maheen Pasha, Tara Al-Barazenji, Khalid Hussain, Rayaz A Malik
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: glp-1 - glucagon-like peptide-1, monogenic obesity, nerve regeneration, neurodegeneration, semaglutide
MeSH terms: Nerve Regeneration / drug effects, Receptor, Melanocortin, Type 4 / genetics, Case Reports, Adolescent, Child, Cornea / drug effects, Cornea / innervation, Cornea / pathology, Female, Glucagon-Like Peptides / pharmacology, Glucagon-Like Peptides / therapeutic use, Humans, Male, Mutation, Nerve Fibers / drug effects, Nerve Fibers / pathology, Obesity / drug therapy, Obesity / genetics, Pediatric Obesity / drug therapy, Receptor, Melanocortin, Type 4, semaglutide, Glucagon-Like Peptides, MC4R protein, human

Melanocortin 4 receptor (MC4R) mutations are the commonest cause of monogenic obesity through dysregulation of neuronal pathways in the hypothalamus and prefrontal cortex that regulate hunger and satiety. MC4R also regulates neuropathic pain pathways via JNK signaling after nerve injury. We show evidence of corneal small fiber degeneration in 2 siblings carrying a heterozygous missense variant c.508A>G, p.Ille170Val in the MC4R gene. Both children were treated with once weekly semaglutide for 6 months with no change in weight, and only a minor improvement in HbA1c and lipid profile. However, there was evidence of nerve regeneration with an increase in corneal nerve fiber density (CNFD) [child A (13.9%), child B (14.7%)], corneal nerve branch density (CNBD) [child A (110.2%), child B (58.7%)] and corneal nerve fiber length (CNFL) [child A (21.5%), child B (44.0%)].
Acute Cheilitis Associated with Oseltamivir after Influenzae A Infection
Authors: Koji Yokoyama, Mitsukazu Mamada
Journal: Case Rep Pediatr (2023)
MeSH terms: Case Reports

Oseltamivir is a neuraminidase inhibitor used to treat acute influenza A or B in adult and pediatric patients. Adverse reactions are usually mild. Here, we report novel side effects associated with oseltamivir. The patient was an 11-year-old girl who developed lower lip cheilitis and stomatitis, after taking oseltamivir. Her symptoms and signs resolved within 36 h of oseltamivir discontinuation. She has clinically fully recovered and has remained well.