OpenMed/multicare-articles huggingface dataset:
Refractory seizures in a dialysis patient and a vitamin consigned to oblivion
Authors: Satish Haridasan, Rakesh Madhyastha, Muriel Ghosn, Fadi Hijazi, Baraa Abduljawad, Mohamed Ibrahim, Rajaish Madhwani
Journal: Clin Nephrol Case Stud (2023)
Keywords: hemodialysis, levodopa-carbidopa, pyridoxine, seizures
MeSH terms: Case Reports

Intradialytic breakthrough seizures refractory to multiple classes of antiepileptic medications are not common and can be due to many different reasons. Pyridoxine deficiency is an under-recognized cause of such seizures and frequently missed in clinical practice. Many factors specifically related to dialysis can lead to pyridoxine deficiency and in turn can contribute to refractory seizures. Herein, we report one of the very few cases of intradialytic breakthrough refractory seizures secondary to pyridoxine deficiency recognized in the literature.
Computed tomography guided electromagnetic navigation system in percutaneous laser ablation for treating primary lung cancer: a case report
Authors: Xiaodan Liu, Shusen Zhang, Honglin Li, Xuezhu Ren, Xiaolan Xu, Xuejing Wang, Liyun Ye, Zhigang Cai
Journal: Front Oncol (2024)
Keywords: computed tomography, electromagnetic navigation system, laser ablation, percutaneous, primary lung cancer
MeSH terms: Case Reports

Background:
The majority of patients of lung cancer have already lost the chance of surgery at the time of diagnosis. Percutaneous local thermal ablation is a precise minimally invasive technique and a viable alternative to surgical treatment. Compared with radiofrequency ablation and microwave ablation, percutaneous laser ablation for the treatment of lung tumors is less commonly used and reported, especially for primary lung cancer.
Case presentation:
A 63-year-old male patient with mixed pulmonary nodules selected computed tomography-guided electromagnetic navigation system for percutaneous biopsy and laser ablation therapy. The puncture point was determined through Computed tomography scanning, along with the placement of the electromagnetic navigation system locators. After rapid on-site evaluation and pathological examination of the puncture tissue specimen, the diagnosis of lung adenocarcinoma was confirmed. A 980-nanometer wavelength semiconductor laser fiber was inserted into the appropriate position guided by the electromagnetic navigation system. Subsequently, a power of 7 watt was applied to ablate the tumor for 30 seconds, then pause for 60 seconds before repeating the procedure. Positron emission tomography-Computed tomography examination was performed 1 month after operation, suggesting complete response of the tumor.
Conclusion:
Here, we present a case of percutaneous laser ablation treatment for primary lung cancer guided by computed tomography-electromagnetic navigation system. As a more precise, shorter duration, impedance-independent, safe and effective minimally invasive thermal ablation method, it is expected to gain wider application and become a novel alternative for surgical treatment.
Case report: Successful combination therapy with isavuconazole and amphotericin B in treatment of disseminated Candida tropicalis infection
Authors: Qibei Teng, Xueshi Ye, Bei Wang, Xinyue Zhang, Zhizhi Tao, Xiufeng Yin, Qianqian Yang
Journal: Front Med (Lausanne) (2024)
Keywords: candida tropicalis, acute leukemia, antifungal combination therapy, disseminated candidiasis, isavuconazole, metagenomic next generation sequencing
MeSH terms: Case Reports

Disseminated candidiasis is a severe complication in patients with hematological malignancies who have undergone chemotherapy or hematopoietic stem cell transplantation. It has a high mortality rate. When disseminated candidiasis caused by Candida tropicalis involves either the brain or heart, the prognosis is extremely poor. Traditional methods such as cultures are limited in diagnosing disseminated candidiasis. We describe a case report of a 55-year-old man with acute myeloid leukemia who developed candidemia caused by Candida tropicalis after chemotherapy, which disseminated extensively to the heart, brain, skin, liver, spleen and kidneys. In this instance, the patient was rapidly diagnosed with candida infection by metagenomic next generation sequencing, and successfully treated with combination therapy of isavuconazole and amphotericin B. The patient continued with treatment of leukemia while simultaneously receiving antifungal therapy, and both leukemia and disseminated candidiasis were effectively controlled. This case report provides real-world experience for treatment of patients with leukemia complicated by disseminated candidiasis.
Case report: POEMS syndrome with portal hypertension
Authors: Xiaotong Xu, Changyou Jing, Tong Zhu, Minjie Jiang, Yunlai Fu, Fang Xie, Jianjun Li, Qinghua Meng
Journal: Front Med (Lausanne) (2024)
Keywords: poems syndrome, ascites, case report, hydrothorax, portal hypertension
MeSH terms: Case Reports

This patient was an elderly patient with abdominal distension and shortness of breath. According to relevant examinations, his condition was initially considered to be related to cirrhosis, but pathological biopsy confirmed the diagnosis of noncirrhotic portal hypertension of unknown etiology. The portal vein pressure was significantly reduced after transjugular intrahepatic portosystemic shunt (TIPS). Nevertheless, the relief of the hydrothorax and ascites was not significant, and the numbness in both lower limbs gradually worsened. POEMS syndrome was ultimately diagnosed following a comprehensive examination. After two courses of bortezomib combined with dexamethasone, the patient died due to a systemic infection. The clinical symptoms of the patient were atypical, as was the presence of portal hypertension, which hindered the diagnosis of POEMS. Due to the patient's advanced age, the diagnosis was delayed, and the prognosis was poor. This case reminds clinicians that POEMS patients can also have portal hypertension as the main manifestation.
High-grade serous papillary ovarian carcinoma combined with nonkeratinizing squamous cell carcinoma of the cervix: a case report
Authors: Maoyuan Wu, Wenwen Zhang, Lianli He, Ye Zhu, Xiaoling Jiang, Lixia Zhang, Xiwei Yuan, Tingchao Li
Journal: Front Oncol (2024)
Keywords: case report, cervical cancer, high-grade serous papillary carcinoma, multiple primary malignant neoplasms, ovarian cancer
MeSH terms: Case Reports

Multiple primary malignant neoplasms are a rare gynecologic malignancy; particularly, cases originating from the heterologous organs, such as the ovary and cervix. Here, we report a case of two primary malignant neoplasms in a patient who had undergone laparoscopic radical hysterectomy + bilateral salpingo-oophorectomy + pelvic lymph node dissection + para-aortic lymphadenectomy + appendectomy + omentectomy + metastasectomy under general anesthesia. The patient experienced complete remission after six courses of postoperative chemotherapy with a standard Taxol and Carboplatin regimen. Genetic testing was performed to detect BRCA2 mutations, and poly (ADP-ribose) polymerase (PARP) inhibitors were used for maintenance therapy.
Assessing family relationships through drawing: the Family Life Space
Authors: Marialuisa Gennari, Caterina F Gozzoli, Giancarlo Tamanza
Journal: Front Psychol (2024)
Keywords: family assessment, family clinical intervention, family dynamics, family relations quality, interactive tool, relational clinical tool

The Family Life Space (FLS) is a graphic instrument that may aid the relational assessment of families. This interactive instrument involves all members of the family in a joint task, that of collectively making a drawing of their own family system and it allows the gathering of information related to the overall family organization. The FLS was originally conceived by Danuta Mostwin in the early 70s and used as an instrument for clinical intervention. After having been applied to several contexts, the present contribution aims at presenting the key indicators to use the instrument as a tool for assessing family relations. Specifically, the characteristics of the instrument that allow the gathering of relevant information at the individual, relational, and family level will be outlined. For each of these levels, the data regarding the quantity and quality of the elements in the drawing that define the family space (i.e., the number and graphic quality of the actual elements in the drawing) as well the quantity and quality of the relationships among family members and with their community at large (i.e., the number and type of lines connecting the various elements in the drawing) will be presented. The instrument can therefore provide useful insights on the following constructs: quality of life, power dynamics within the family, feelings of belonging, closeness and/or distance as well as conflict or acknowledgement between family members and the overall attitude family members have toward their context and the critical events they had to face. The application and complete potential of the instrument are further elaborated upon through the presentation of a clinical case. This case not only aids in comprehending the tool's usage but also enables the collection of psychological information about the family and provides a clinical interpretation of family relationships.
Case report: Rare genetic liver disease - a case of congenital hepatic fibrosis in adults with autosomal dominant polycystic kidney disease
Authors: Ying Liu, Ping Zhu, Jiajun Tian
Journal: Front Med (Lausanne) (2024)
Keywords: adpkd, pkd1 gene mutation, adult female, case report, congenital hepatic fibrosis
MeSH terms: Case Reports

Congenital hepatic fibrosis (CHF) is considered to be a rare autosomal recessive hereditary fibrocystic liver disease, mainly found in children. However, cases of adult CHF with autosomal dominant polycystic kidney disease (ADPKD) caused by PKD1 gene mutation are extremely rare. We report a 31-year-old female patient admitted for esophageal and gastric variceal bleeding. Physical examination revealed significant splenomegaly, biochemical tests showed a slight increase in liver enzymes, and a decrease in platelet count. Imaging examinations showed significant dilatation of the common bile duct and intrahepatic bile ducts, as well as multiple renal cysts. Liver biopsy revealed enlarged portal areas, bridging fibrosis, and numerous variably shaped small bile ducts. Genetic testing identified two unique mutations in the PKD1 gene, identified as biallelic mutations compound heterozygous mutations composed of a mutation inherited from the father (c.8296 T > C) and one from the mother (c.9653G > C). Based on multiple test results, the patient was diagnosed with the portal hypertension type CHF associated with ADPKD. During her initial hospital stay, the patient underwent endoscopic treatment for gastrointestinal bleeding. To date, the patient has recovered well. Moreover, a significant reduction in varices was observed in a gastroscopy examination 18 months later.
Carpal tunnel syndrome caused by tophi in the superficial flexor tendon: a case report
Authors: Haihu Hao, Weijie Kong, Han Li
Journal: Front Surg (2023)
Keywords: carpal tunnel syndrome, case report, flexor tendon, surgery, tophaceous gout
MeSH terms: Case Reports

Carpal tunnel syndrome (CTS) is the most common disease among peripheral nerve entrapment diseases. CTS is often caused by the hyperplasia of the transverse carpal ligament and edema of tissue in the carpal tunnel, resulting in compression of the median nerve. Specific manifestations of CTS include numbness, loss of skin sensation in the palm and three and a half fingers on the radial side, and decreased muscle strength; however, CTS caused by wrist tophi is very rare. To our knowledge, CTS with median nerve compression caused by tophi in the superficial flexor tendon of the index finger of the wrist has not been reported before. Here, we will report a case of CTS caused by tophi in the wrist in a 37-year-old patient with no history of gout. CTS caused by tophi is uncommon, but if the patient has high uric acid, CTS may be due to tophi.
Coexistence of intrathyroid thymic carcinoma and papillary thyroid carcinoma: a case report and literature review
Authors: Maryam Vajihinejad, Ali Ataei, Mohammad Pashmchi, Ali Aledavoud, Vahid Zand, Mohammad Ali Broomand, Mohammad Mohammadi, Niloofar Zare Reshkuiyeh
Journal: Front Oncol (2024)
Keywords: intrathyroid thymic carcinoma, oncology, papillary thyroid carcinoma, radiotherapy, thyroid
MeSH terms: Case Reports

Background:
Intrathyroid thymic carcinoma (ITTC) is a rare neoplasm of the thyroid, which accounts for less than 0.15% of all thyroid malignancies. The coexistence of ITTC and papillary thyroid carcinoma (PTC) is an extremely rare condition reported only in a limited number of cases.
Case summary:
A 26-year-old female presented with a growing neck mass, hoarseness, and dysphagia over four months. Ultrasonography revealed that the entire left lobe and the isthmus of the thyroid were replaced with a hypoechoic mass. Moreover, it revealed two hypoechoic nodules in the right thyroid. The patient underwent a total thyroidectomy and paratracheal lymph node dissection. Histopathological examinations revealed the coexistence of ITTC and PTC in the same thyroid. In immunohistochemical analyses, the ITTC was positive for CD5, P63, CD117, and CK 5/6 and negative for thyroglobulin, calcitonin, and TTF 1. At the same time, PTC was positive for TTF 1 and thyroglobulin and negative for CD5, P63, and CK 5/6. The patient received postoperative radiotherapy and remained well with no evidence of recurrence during one month follow-up.
Conclusion:
Distinguishing ITTC from other thyroid malignancies before the surgery is challenging due to its non-specific presentations. Therefore, the diagnosis relies on postoperative studies, especially immunohistochemistry. The recommended treatment approach to improve survival in ITTC cases is total thyroidectomy combined with cervical lymph node dissection, followed by postoperative radiotherapy. The coexistence of ITTC and PTC may indicate the similarity in the underlying mechanisms of these tumors. However, further investigations are needed to understand this potential correlation.
Multiple pulmonary cavities in an immunocompetent patient: a case report and literature review
Authors: Zihan Guo, Anli Zuo, Xinyi Liu, Yunxiu Jiang, Shuran Yang, Degan Lu
Journal: Front Med (Lausanne) (2024)
Keywords: legionella, legionella pneumonia, legionella pneumophila, immunocompetent patient, metagenomic next-generation sequencing, pulmonary cavity
MeSH terms: Case Reports

Legionella pneumonia (LP) is a relatively uncommon yet well-known type of atypical community-acquired pneumonia (CAP). It is characterized by a rapid progression to severe pneumonia and can be easily misdiagnosed. In most patients, chest computed tomography (CT) showed patchy infiltration, which may progress to lobar infiltration or even lobar consolidation. While pulmonary cavities are commonly observed in immunocompromised patients with LP, they are considered rare in immunocompetent individuals. Herein, we present a case of LP in an immunocompetent patient with multiple cavities in both lungs. Pathogen detection was performed using metagenomic next-generation sequencing (mNGS). This case highlights the unusual radiographic presentation of LP in an immunocompetent patient and emphasizes the importance of considering LP as a possible diagnosis in patients with pulmonary cavities, regardless of their immune status. Furthermore, the timely utilization of mNGS is crucial for early pathogen identification, as it provides multiple benefits in enhancing the diagnosis and prognosis of LP patients.
Perforated appendicitis due to fishbone
Authors: Van T Hoang, The H Hoang, Hoang Q Nguyen, Ngoc T T Pham, Tien H Vo, Vichit Chansomphou, Duc T Hoang
Journal: J Surg Case Rep (2024)
Keywords: appendicitis, computed tomography, fishbone, foreign body, perforation
MeSH terms: Case Reports

Appendicitis is a common condition in daily clinical practice. Appendicitis due to foreign bodies is uncommon and may result from obstruction or perforation mechanism. We present a rare case of a 43-year-old male patient who was diagnosed with perforated appendicitis due to a fish bone by imaging studies and confirmed postoperatively. Confirming the fish bone causing the perforation on images is sometimes difficult, requiring the radiologist to actively search and determine the source. In addition to appendectomy, the surgeon also needs to pay attention to removing all foreign objects and treating perforations of surrounding organs.
Challenges in Management of Ovotesticular Differences in Sex Development in Resource-Limited Settings
Authors: Serwah Bonsu Asafo-Agyei, Emmanuel Ameyaw, Boateng Nimako, Michael Amoah
Journal: Case Rep Endocrinol (2024)
MeSH terms: Case Reports

Differences in sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. Ovotesticular DSD is the rarest variant of DSD where both ovarian and testicular tissues co-exist in an individual. Ambiguous genitalia may be a glaring indicator of DSD, but multiple genital anomalies should also raise a suspicion of DSD. This is a case report of a 15-year-6-month-old boy who presented during infancy with multiple genital anomalies requiring surgery. The diagnosis of ovotesticular DSD was missed until later in adolescence when he presented with progressive bilateral breast enlargement. Work-up revealed a 46, XX karyotype and dysgenetic testes, but functional ovarian tissue. The patient wanted to consider switching to a female gender but was constrained by psychosocial factors. Maintenance of a masculine phenotype was done using testosterone injections due to the relatively high cost of testosterone patches. Conclusion. Multiple genital anomalies should raise the suspicion of DSD, and prompt referral to an endocrinologist should be done before urogenital surgery and gender assignment are carried out.
Case Report: A new case of YARS1-associated autosomal recessive disorder with compound heterozygous and concurrent 47, XXY
Authors: Janene Kuan, Ashleigh Hansen, Hua Wang
Journal: Front Pediatr (2023)
Keywords: 47, charcot-marie-tooth disease, imnepd2, xxy, autosomal recessive disorder, multisystem disease, tyrosyl-trna synthetase 1 (yars1), whole exome sequencing
MeSH terms: Case Reports

Aminoacyl-tRNA synthetases play a pivotal role in catalyzing the precise coupling of amino acids with their corresponding tRNAs. Among them, Tyrosyl tRNA synthetase, encoded by the YARS1 gene, facilitates the aminoacylation of tyrosine to its designated tRNA. Heterozygous variants in the YARS1 gene have been linked to autosomal dominant Charcot-Marie-Tooth type C, while recent findings have unveiled biallelic YARS1 variants leading to an autosomal recessive multisystemic disorder in several cases. In this report, we present a novel case characterized by dysmorphic facies, and multisystemic symptoms, prominently encompassing neurological issues and a microarray conducted shortly after birth revealed 47, XXY. Utilizing whole exome sequencing, we uncovered a paternally inherited likely pathogenic variant (c.1099C > T, p.Arg367Trp), previously reported, coinciding with the father's history of hearing loss and neurological symptoms. Additionally, a maternally inherited variant of uncertain significance (c.782T > G, p.Leu261Arg), previously unreported, was identified within the YARS1 gene. The observed phenotypes and the presence of compound heterozygous results align with the diagnosis of an autosomal recessive disorder associated with YARS1. Through our cases, the boundaries of this emerging clinical entity are broadened. This instance underscores the significance of comprehensive genetic testing in patients exhibiting intricate phenotypes.
Reactive Angioendotheliomatosis in Association with Ulcerative Colitis
Authors: R Afiouni, G Abadjian, F Stephan
Journal: Case Rep Dermatol Med (2024)
MeSH terms: Case Reports

Reactive angioendotheliomatosis (RAE) is a rare benign skin condition characterized histologically by the proliferation of dermal vessels and endothelial cells that occurs secondary to an underlying disease such as infections or lymphoproliferative disorders. To our knowledge, no previous cases of RAE associated with ulcerative colitis (UC) were reported in the literature. Therefore, we report the case of a 46-year-old man with a history of UC presenting with RAE confirmed on histopathology and immunostaining.
A Rare Case of Isolated Cardiac Sarcoidosis With Negative Biopsy: Diagnosis by Clinical Criteria
Authors: Tiffany Le, John Dayco, Karthik Ramaseshan, Mariam Zunnu Rain, Luis C Afonso
Journal: Cureus (2024)
Keywords: cardiac sarcoidosis, cardiology, chest pain, isolated cardiac sarcoidosis, myocarditis
MeSH terms: Case Reports

Cardiac sarcoidosis (CS) is a potentially life-threatening condition that can cause sudden, fatal conduction abnormalities, arrhythmias, and heart failure. The diagnosis of CS is challenging due to nonspecific symptoms and an unclear diagnostic criterion. Although biopsy is the gold standard method, the sensitivity of biopsy is low. About a portion of CS cases are detected through imaging. A unique aspect of our case is that our definitive diagnosis was made based on clinical and imaging criteria alone despite a negative biopsy. Our diagnosis was confirmed further on follow-up with improvement in cardiac function on imaging after a treatment course with corticosteroids. This case highlights the need to have a broad differential and more awareness of this rare etiology and the value of clinical criteria to make a definitive diagnosis.
Palliative Care Rounds: A Thanksgiving Break to Discuss Rib Fractures
Authors: Richard V Guthrie, Sharene Best, Ryan Baldeo, Jamie Ellis-Wittenhagen, Tyler Murphy
Journal: Cureus (2024)
Keywords: integration of palliative care service, multi-modality pain management, opioids analgesia, pathological rib fracture, patient history, patient-doctor communication, thorough physical examination
MeSH terms: Case Reports

Rib fractures are common injuries, especially in the frail and elderly. They can happen in isolation or may be associated with significant concomitant morbidity, including but not limited to pain, pneumonia, or pneumothorax. In the palliative care population, rib fractures can be overlooked or attributed to other entities, which may lead to inappropriate treatment. The commonly accepted standards of care for the treatment of rib fractures are centered around early and adequate pain control, and stabilization of other complications. Accurate diagnosis and management demand a thorough history and physical examination, effective communication, and intentional clinical consideration of all differential diagnoses.
Weathering the storm: diagnosis and treatment of a life-threatening disseminated Nocardia otitidiscaviarum infection
Authors: Li-Yan Zhang, Liang Wang, Zeeshan Umar, Yuan-Hong Huang, Bing Gu
Journal: Front Cell Infect Microbiol (2024)
Keywords: nocardia otitidiscaviarum, mass spectrometry, metagenomic sequencing, microscopic examination, minimal change disease, nocardiosis
MeSH terms: Anti-Bacterial Agents / therapeutic use, Nocardia Infections / diagnosis, Nocardia Infections / drug therapy, Nocardia Infections / microbiology, Nocardia / isolation & purification, Case Reports, Humans, Male, Middle Aged, Treatment Outcome, Anti-Bacterial Agents

Nocardiosis demonstrates a temporal categorization that includes acute, subacute, and chronic stages alongside distinct typical localizations such as pulmonary, cutaneous, and disseminated forms. Disseminated nocardiosis, commonly caused by Nocardia asteroides, N. brasiliensis, and N. farcinica, continues to result in substantial morbidity and mortality. Herein, we report a life-threatening disseminated nocardiosis caused by Nocardia otitidiscaviarum in a patient with minimal change disease. This study emphasizes the difficulty in the diagnosis and treatment of unknown infections in clinical settings and highlights the important role played by laboratories in solving infectious diseases caused by rare pathogens.