OpenMed/multicare-articles huggingface dataset:
A Case of Nerve Root Radiofrequency Thermocoagulation for Pain Due to Pleural Metastasis of Lung Cancer Leading to Improvement in the Patient's Quality of Life
Authors: Yumi Tsuzuki, Takahisa Nishiyama, Yusuke Ishida, Ryoji Maeda, Mikiko Tomino, Kiyoshige Ohseto
Journal: Palliat Med Rep (2023)
Keywords: cancer survivor, cancer-related pain, lung cancer, nerve root block, radiofrequency thermocoagulation
MeSH terms: Case Reports

Advances in medicine have made long-term survival of cancer patients possible. Hence, it is now necessary to consider how to approach common symptoms, such as cancer-related pain, in these patients. In this study, we describe a lung cancer patient in whom relief of intractable thoracic pain caused by pleural metastasis was achieved through thoracic radiofrequency thermocoagulation (RF), improving his quality of life (QOL). The patient was a man in his 70s with right upper lobe lung cancer, left 9th -11th rib metastasis, and left thoracic pain associated with parietal pleural metastasis. The patient experienced insomnia and weight loss due to poor appetite caused by opioid analgesics and inadequate pain control. Therefore, RF was performed as interventional treatment, resulting in a decrease in the numerical rating scale score from 10/10 to 2/10, and an improvement in QOL. In cases wherein long-term survival is expected, a long-term treatment plan for chronic cancer-related pain, which has a tendency to become persistent, becomes necessary. RF for the nerve roots might be a viable option for pain caused by pleural metastasis in cancer survivors.
Young Adult Case of Fontan-associated Liver Disease with Hepatocellular Carcinoma During the Transition from Pediatric to Internal Medicine Care and Follow-up
Authors: Hideo Fukunaga, Mitsuyoshi Suzuki, Keiya Sato, Sakiko Miyazaki, Akira Uchiyama, Shunpei Yamashina, Mamiko Miyashita, Ken Takahashi, Toshiaki Shimizu
Journal: Juntendo Iji Zasshi (2023)
Keywords: fontan circulation, fontan-associated liver disease, hepatocellular carcinoma, liver fibrosis, transitional care
MeSH terms: Case Reports

In recent years, the outcomes of the Fontan procedure have been good, but Fontan-associated liver disease (FALD), which causes congestive hepatopathy due to elevated central venous pressure (CVP), has become a serious problem when considering patients' long-term prognosis. A 28-year-old woman with Emanuel syndrome was admitted to our hospital for the treatment of hepatocellular carcinoma (HCC). She was diagnosed with pulmonary atresia and underwent a bidirectional pulmonary artery shunt at the age of 1 year and 10 months and the Fontan procedure at 4 years of age. Blood tests showed an increase in γ-glutamyltransferase in her early 20s and a marked increase in alfa-fetoprotein levels at age 27 years. She was diagnosed as having HCC in the S7 region by contrast-enhanced computed tomography and underwent hepatectomy. There were no serious adverse events, and the patient has survived 18 months after surgery without recurrence. In this report, the optimal time for the transition from the pediatrics department to adult healthcare units is also discussed, along with the management system for FALD in our hospital.
Dancing Out of Step: A Case of Tuberculous Meningitis Presenting as Childhood Chorea
Authors: Jao Jarro B Garcia, Cherie Marie A Tecson-Delos Santos
Journal: Tremor Other Hyperkinet Mov (N Y) (2024)
Keywords: tb meningitis, chorea, tuberculous meningitis
MeSH terms: Chorea / diagnosis, Chorea / drug therapy, Chorea / etiology, Dancing, Movement Disorders, Tuberculosis, Meningeal / complications, Tuberculosis, Meningeal / diagnosis, Tuberculosis, Meningeal / drug therapy, Review, Case Reports, Child, Humans, Male, Movement

Background:
Acute to subacute pediatric movement disorders require prompt diagnosis to identify potentially treatable diseases.
Case report:
We present a 6-year-old male with a three-week history of generalized chorea transitioning to predominantly right-sided hemichorea and then to left hemiplegia.
Discussion:
We review the mechanisms in tuberculous meningitis underlying his movement abnormalities.
Cutaneous mantle cell lymphoma presenting as a diffuse morbilliform rash: A case report
Authors: Spencer Tuohy, Christopher Wachuku, Yixin A Wang, Aman Prasad, Sara S Samimi, Lisa K Pappas-Taffer, Paul L Haun, Leo L Wang
Journal: SAGE Open Med Case Rep (2023)
Keywords: cancer, dermatology
MeSH terms: Case Reports

This case describes a patient with known mantle cell lymphoma without cutaneous involvement presenting with a diffuse morbilliform rash during an inpatient admission for bacterial pneumonia. The patient was thought to have a hypersensitivity to antibiotics but failed to improve after the offending agents were stopped. A skin biopsy revealed metastatic cutaneous mantle cell lymphoma. Treatment with high-dose corticosteroids and chemotherapy was initiated resulting in the resolution of the rash.
Crescentic glomerulonephritis due to linear IgA anti-glomerular basement membrane disease: report of a rare case
Authors: A G Monich, R F Romani, J L S Carneiro
Journal: Braz J Med Biol Res (2024)
MeSH terms: Anti-Glomerular Basement Membrane Disease / complications, Anti-Glomerular Basement Membrane Disease / diagnosis, Anti-Glomerular Basement Membrane Disease / immunology, Autoantibodies / blood, Autoantibodies / immunology, Glomerulonephritis / diagnosis, Glomerulonephritis / immunology, Glomerulonephritis / pathology, Immunoglobulin A / blood, Immunoglobulin A / immunology, Case Reports, Biopsy, Female, Humans, Male, Immunoglobulin A, Autoantibodies

Anti-glomerular basement membrane (GBM) disease is a rare and severe vasculitis that affects the glomerular and pulmonary capillaries and has an incidence of less than 2 cases per million individuals per year. Anti-GBM disease is mediated by autoantibodies against the α3 chain of type IV collagen. In the majority of cases, the autoantibodies are of the immunoglobulin G (IgG) class, with rare cases being mediated by immunoglobulin M (IgM) or immunoglobulin A (IgA); there are less than 15 IgA-mediated cases reported in the literature worldwide. The classic form of this disease manifests with rapidly progressive glomerulonephritis (RPGN), with or without pulmonary hemorrhage, and the diagnosis consists of identifying high titers of autoantibodies in the serum and/or deposited in the tissues. IgA antibodies are not identified in routine immunoassay tests, and renal biopsy with immunofluorescence is essential for diagnosis. We present a case of RPGN due to anti-GBM disease with linear IgA deposition, whose diagnosis was made exclusively by renal biopsy and with an unfavorable prognosis.
Case Report: Whole-exome sequencing identified two novel COMP variants causing pseudoachondroplasia
Authors: Lin Zhou, Jing Chen, Qian Liu, Shuting Yang, Wanqin Xie, Ying Peng
Journal: Front Endocrinol (Lausanne) (2023)
Keywords: case report, comp, novel missense variants, pseudoachondroplasia, whole-exome sequencing
MeSH terms: Achondroplasia / genetics, Cartilage Oligomeric Matrix Protein / genetics, Osteochondrodysplasias / genetics, Case Reports, Research Support, Non-U.S. Gov't, Exome Sequencing, Humans, Matrilin Proteins / genetics, Cartilage Oligomeric Matrix Protein, Matrilin Proteins, COMP protein, human, Pseudoachondroplasia

Pseudoachondroplasia (PSACH) is a rare, dominant genetic disorder affecting bone and cartilage development, characterized by short-limb short stature, brachydactyly, loose joints, joint stiffness, and pain. The disorder is caused by mutations in the COMP gene, which encodes a protein that plays a role in the formation of collagen fibers. In this study, we present the clinical and genetic characteristics of PSACH in two Chinese families. Whole-exome sequencing (WES) analysis revealed two novel missense variants in the COMP gene: NM_000095.3: c.1319G>T (p.G440V, maternal) and NM_000095.3: c.1304A>T (p.D435V, paternal-mosaic). Strikingly, both the G440V and D435V mutations were located in the same T3 repeat motif and exhibited the potential to form hydrogen bonds with each other. Upon further analysis using Missense3D and PyMOL, we ascertained that these mutations showed the propensity to disrupt the protein structure of COMP, thus hampering its functioning. Our findings expand the existing knowledge of the genetic etiology underlying PSACH. The identification of new variants in the COMP gene can broaden the range of mutations linked with the condition. This information can contribute to the diagnosis and genetic counseling of patients with PSACH.
Continuous intrathecal saline infusion for treating refractory spontaneous intracranial hypotension: A case report
Authors: Po-Fan Chiu, Yu-Hsiang Lin, Hui-Shan Lu, I-Han Hsiao, Hung-Lin Lin
Journal: Biomedicine (Taipei) (2023)
Keywords: cerebrospinal fluid, continuous intrathecal saline infusion, epidural blood patch, orthostatic headache, spontaneous intracranial hypotension
MeSH terms: Case Reports

Spontaneous intracranial hypotension (SIH) is a poorly understood condition that presents with a wide variety of symptoms, ranging from mild headaches to coma. It is typically caused by continuous spontaneous leakage of spinal cerebrospinal fluid (CSF), resulting in orthostatic headaches. However, the appropriate management of refractory SIH remains unclear. A 50-year-old man presented with orthostatic headache followed by a rapid decline in mental status. The imaging findings were consistent with the diagnosis of SIH, with bilateral cerebral subdural hematomas and abnormal fluid collection in the posterior epidural space from the T2 to T12 levels. Computed tomography myelography of the whole spine revealed multiple high-flow CSF leakages at the T6 to T8 levels. Despite treatment with bilateral burr hole drainage for subdural hematomas and repeated lumbar epidural blood patch (EBP) three times, the patient's condition worsened and he developed stupor. A lumbar intrathecal saline bolus (90 ml) was administered to restore CSF depletion. The patient's verbal function improved immediately, and continuous intrathecal saline infusion was administered at a rate of 10 ml/h for two days. The patient's stupor gradually resolved, and after his symptoms improved, the EBP injection was repeated at the T8 level. The patient recovered completely, and during the six-year follow-up, there were no signs of recurrence. SIH may cause a refractory decline in mental status, and lumbar intrathecal saline infusion may help arrest or reverse an impending central (transtentorial) herniation. This case demonstrates an appropriate bolus and continuous infusion of normal saline, and documents the resolution of SIH. This maneuver may change the CSF flow pattern and aims to seal the CSF fistula. Further studies are needed to better understand the mechanism of intrathecal saline infusion and establish effective treatment strategies for refractory cases of SIH.
Massive acetaminophen ingestion managed successfully with N-acetylcysteine, fomepizole, and renal replacement therapy
Authors: Elizabeth E Williams, Duc Quach, Arthur Daigh
Journal: Clin Nephrol Case Stud (2024)
Keywords: n-acetylcysteine, acetaminophen, dialysis, fomepizole
MeSH terms: Case Reports

Acetaminophen ingestion is routinely managed with the antidote, N-acetylcysteine (NAC). Massive acetaminophen poisoning has been treated successfully with adjunctive therapies such as fomepizole and hemodialysis. Fomepizole functions by inhibiting cytochrome p560, which prevents tylenol from forming its toxic metabolite, NAPQI. Prior cases have demonstrated favorable outcomes and a significant drop in acetaminophen levels after a single session of intermittent hemodialysis and continuous veno-venous hemofiltration (CVVH). However, the recommended dosage adjustments of NAC and fomepizole while a patient is undergoing CVVH has not been well reported. We present a case of an 18-year-old male who presented after ingesting 125 g of tylenol. His 4-hour acetaminophen level was 738.6 µg/mL. He was treated with NAC, fomepizole, and a single 4-hour session of hemodialysis. His acetaminophen level remained elevated at 730 µg/mL despite the hemodialysis session. CVVH was initiated, and he was given intravenous NAC at 12.5 mg/kg/h, oral NAC at 70 mg/kg every 4 hours, and intravenous fomepizole at 10 mg/kg every 6 hours. His tylenol levels became undetectable 57 hours after ingestion, and he did not develop permanent liver toxicity. This case encourages the use of CVVH for massive tylenol ingestion when a single run of intermittent hemodialysis is not effective in lowering the tylenol level. NAC, fomepizole, and CVVH can prevent unfavorable outcomes in massive acetaminophen ingestion when provided at an appropriate dose and frequency.
Case report: A rare case of omental extrarenal rhabdoid tumor and review of the literature
Authors: Hui Li, Xiao-Hui Wen, Xiao-Yun Fu, Zuo-Hui Wu
Journal: Front Oncol (2024)
Keywords: extrarenal rhabdoid tumor, extrarenal rhabdoid tumor of greater omentum, greater omentum tumor, omentum, ultrasound
MeSH terms: Case Reports

Extrarenal rhabdoid tumor of the greater omentum is extremely rare, with only sporadic reports and limited documentation of its ultrasonographic findings. Here, we report a case of an extrarenal rhabdoid tumor of the greater omentum in a 16-year-old girl and review the relevant literature. It was found that the disease mainly occurred in female children and adolescents, and mainly manifested as lower abdominal pain and a large abdominal cystic or solid hemorrhagic mass. The clinical characteristics include a high degree of malignancy and mortality. Ultrasound shows some malignant features, but it is not specific; thus, it is easy to be misdiagnosed in the clinic.
Localized cystic kidney disease: a case report unveiling clinical and histopathological challenges
Authors: Teresita Mendez, Hisham F Bahmad, Francesca Polit, Nicole Carpio, Arman Gill, William F Burke 3rd, Akshay Bhandari, Robert Poppiti, Yumna Omarzai
Journal: Autops Case Rep (2024)
Keywords: case reports, kidney diseases, kidney diseases, cystic, polycystic kidney diseases, polycystic kidney, autosomal dominant
MeSH terms: Case Reports

Localized cystic kidney disease (LCKD) is a distinct renal disorder characterized by the presence of cysts within specific regions of the kidneys. We present a rare case of a 41-year-old African American man, who presented to our medical center with lower urinary tract symptoms and gross hematuria. The initial assessment culminated in the identification of an uncomplicated urinary tract infection, prompting the prescription of appropriate oral antibiotic therapy. On follow-up after 5 months, the patient presented with gross hematuria. Imaging studies revealed a mixed-density cystic lesion of 2.6 cm situated within the interpolar region of the right kidney. This cystic lesion exhibited intricate septations at the superior pole of the kidney. Robotic-assisted right partial nephrectomy was performed, and pathologic examination was diagnostic for LCKD. This report not only underscores the uniqueness of LCKD but also presents a comprehensive review of the existing literature that pertains to this condition. Particular emphasis is placed upon its inherent benign behavior and its marked divergence from the progressive trajectory commonly associated with other renal diseases. We also explored the incidental findings of the disease, its diverse clinical symptomatology, conceivable etiological underpinnings, and the array of diagnostic modalities used. Finally, similarities in histopathologic findings with polycystic kidney disease and other entities are discussed, underscoring the importance of accurate diagnosis and management.
Case Report: Gas in the esophagus, stomach wall and portal vein with congenital hypertrophic pyloric stenosis
Authors: Na Yao, Wenxin Zhang, Qi Gao, Chaoxiang Lu, Qi Wang
Journal: Front Pediatr (2024)
Keywords: chps, necrotizing enterocolitis, pyloromyotomy, vomiting, vomiting without bile
MeSH terms: Case Reports

Background:
CHPS dramatically affects infant growth and development and can even cause aspiration resulting from esophageal reflux. There is potential danger. CHPS is common, while CHPS with gas in the stomach wall and portal vein is rare. Gas in the stomach wall and portal vein are often the key features of more serious disease. It can be easily mistaken as a serious disease when patients with CHPS have gas in the stomach wall and portal vein.
Case presentation:
A 56-day-old baby was hospitalized for aspiration pneumonia after vomiting without bile for 20 days. Compared with vomiting, which is the most common symptom, pneumonia tends to attract more attention. Because of pneumonia, a chest CT scan was performed and revealed massive gas accumulation in the walls of the esophagus, stomach, and portal vein. Therefore, NEC was considered first and was treated conservatively for one week. However, the vomiting continued, and CHPS was confirmed by ultrasound. The delay in CHPS diagnosis was due to insufficient recognition of the signs of gas accumulation. Because of inexperience and lack of knowledge about CHPS with gastrointestinal pneumatosis, physicians failed to make an early accurate diagnosis. Case 2 was a 29-day-old male who was admitted to the hospital with vomiting without bile. He was examined by ultrasound, which revealed gas in the stomach wall and portal vein after admission to the hospital. No peritonitis was found after a detailed and comprehensive physical examination. Emergency life-threatening diseases such as NEC were quickly ruled out. He received surgery as soon as possible and had an uneventful recovery with no complications.
Conclusion:
CHPS may present with gas in the gastric or esophageal wall and portal vein, which is not a contraindication to surgery.
Breast cancer in pregnancy: concurrent cesarean section, nipple-sparing mastectomy, and immediate breast reconstruction-case report
Authors: Alessandro Innocenti, Pietro Susini, Luca Grimaldi, Tommaso Susini
Journal: Front Oncol (2024)
Keywords: breast cancer, case report, immediate breast reconstruction, nipple-sparing mastectomy, pregnancy-associated breast cancer
MeSH terms: Case Reports

Background:
Pregnancy-associated breast cancer (PABC), with an incidence rate from 1:3,000 to 1:10,000 deliveries, is the most frequent cancer during pregnancy. PABC appropriate management must take into consideration both the maternal oncological safety and the fetal health, thus posing a challenge for the mother, the baby, and the clinicians. The treatment should adhere as closely as possible to the breast cancer (BC) guidelines. Therefore, surgery is a mainstay, and, when mastectomy is required, breast reconstruction (BR) is a topic of debate. To minimize the risks to the baby, most surgeons postpone BR to delivery. However, a delayed breast reconstruction (DBR) could affect the outcome. In the present case, we report cesarean section concurrent with mastectomy and immediate breast reconstruction (IBR).
Methods:
A 37-year-old patient, at the 36th week of pregnancy with PABC, underwent simultaneous cesarean delivery, nipple-sparing mastectomy, and IBR. To minimize risks for the newborn, cesarean was firstly performed under spinal anesthesia. Immediately after, breast surgery, including mastectomy and IBR, was performed under general anesthesia. Partial submuscular IBR with an acellular porcine dermal matrix concluded the surgical procedure. Lactation was inhibited, and adjuvant chemotherapy and hormone therapy were administered to the patient.
Results:
In a single surgical session, cesarean delivery, subcutaneous mastectomy, axillary dissection, and IBR were successfully carried out. No early or late postoperative complications were reported for both the patient and the newborn. Histopathological investigation reported a multifocal and multicentric infiltrating ductal carcinoma. After a 6-year follow-up, the patient is alive and well.
Conclusion:
To the best of our knowledge, this is the first reported case of concomitant cesarean delivery, PABC mastectomy, axillary dissection, and IBR. This surgical strategy allowed PABC treatment by the BC guideline, minimizing the newborn's disadvantage and permitting, at the same time, the best final BR outcome.
Identifying genomic variant associated with long QT syndrome type 2 in an ecuadorian mestizo individual: a case report
Authors: Rafael Tamayo-Trujillo, Rita Ibarra-Castillo, José Luis Laso-Bayas, Patricia Guevara-Ramirez, Santiago Cadena-Ullauri, Elius Paz-Cruz, Viviana A Ruiz-Pozo, Nieves Doménech, Adriana Alexandra Ibarra-Rodríguez, Ana Karina Zambrano
Journal: Front Genet (2024)
Keywords: ngs, case report, implantable defibrillator, kcnh2, long qt syndrome
MeSH terms: Case Reports

Introduction:
Long QT syndrome (LQTS) is an autosomal dominant inherited cardiac condition characterized by a QT interval prolongation and risk of sudden death. There are 17 subtypes of this syndrome associated with genetic variants in 11 genes. The second most common is type 2, caused by a mutation in the KCNH2 gene, which is part of the potassium channel and influences the final repolarization of the ventricular action potential. This case report presents an Ecuadorian teen with congenital Long QT Syndrome type 2 (OMIM ID: 613688), from a family without cardiac diseases or sudden cardiac death backgrounds.
Case presentation:
A 14-year-old girl with syncope, normal echocardiogram, and an irregular electrocardiogram was diagnosed with LQTS. Moreover, by performing Next-Generation Sequencing, a pathogenic variant in the KCNH2 gene p.(Ala614Val) (ClinVar ID: VCV000029777.14) associated with LQTS type 2, and two variants of uncertain significance in the AKAP9 p.(Arg1654GlyfsTer23) (rs779447911), and TTN p. (Arg34653Cys) (ClinVar ID: VCV001475968.4) genes were identified. Furthermore, ancestry analysis showed a mainly Native American proportion.
Conclusion:
Based on the genomic results, the patient was identified to have a high-risk profile, and an implantable cardioverter defibrillator was selected as the best treatment option, highlighting the importance of including both the clinical and genomics aspects for an integral diagnosis.
Case report: Evaluation of hindlimb ischemia using 18F-fluorodeoxyglucose positron emission tomography in a cat with cardiogenic arterial thromboembolism
Authors: Hyeongyeong Lee, Dohee Lee, Sanggu Kim, Yoonhoi Koo, Yeon Chae, Taesik Yun, Mhan-Pyo Yang, Soochong Kim, Byeong-Teck Kang, Hakhyun Kim
Journal: Front Vet Sci (2023)
Keywords: 18f-fdg, arterial thromboembolism, feline, positron emission tomography, reperfusion injury
MeSH terms: Case Reports

A 12-year-old castrated male domestic shorthair cat weighing 6.7 kg presented with acute hindlimb paralysis and tachypnea. The femoral pulse was absent bilaterally. Thoracic radiography showed finding compatible with cardiogenic pulmonary edema. Echocardiography revealed hypertrophic cardiomyopathy phenotype and a spontaneous echocardiographic contrast in the left atrium, suggesting cardiogenic arterial thromboembolism. Oxygen supplementation, diuretics, and antithrombotic and thrombolytic agents were also administered. However, hindlimb motor function was not restored. Severely increased aspartate aminotransferase and creatinine phosphokinase, as well as neutropenia with a degenerative left shift were identified, and amputation was considered to prevent sepsis caused by necrosis of the ischemic tissues. 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography (PET)/computed tomography was performed to evaluate the metabolic activity of the muscle tissues and determine the level of amputation. There was no 18F-FDG uptake in the extremities of either the hind limbs or the caudal parts of the bilateral femoral muscle mass, suggesting a loss of metabolic activity in the area. Considering the wide affected area, a decreased quality of life was predicted postoperatively, and the cat was euthanized at the owner's request. Postmortem muscle biopsy confirmed weak atrophy of the left femoral muscle and prominent atrophy of the right calf. This case report describes the use of 18F-FDG PET in a cat with ischemia caused by cardiogenic arterial thromboembolism.