OpenMed/multicare-articles huggingface dataset:
Physical therapist management and coordination of care to prevent pathological hip fracture from metastatic disease: a case report
Authors: Athena Manzino, Christopher Wilson
Journal: Front Rehabil Sci (2024)
Keywords: breast cancer, intervention, oncology, physical therapy, rehabilitation, skeletal-related event, surgical fixation
MeSH terms: Case Reports

Background:
Bone metastases are common in patients with progressive cancer and often present in long bones, leading to adverse events such as pathologic fractures. In the acute care setting, physical therapists (PTs) may be the initial providers who identify symptoms associated with fracture risk and communicate concerns to help prevent such adverse events.
Case description:
A 39-year-old female patient with metastatic breast cancer was admitted to the hospital due to uncontrolled pain. She had a history of bone metastases to the left femur; however, no restrictions or precautions were noted during the initial PT examination. During this initial PT examination, she reported worsening hip pain with weight-bearing activities.
Outcomes:
With the PT's recognition of red flag symptoms, an MRI was completed, which revealed extensive metastatic disease in her left femur with concern for an imminent fracture; as a result, prophylactic fixation was performed. Her functional abilities improved after surgery and consistent therapeutic intervention, allowing her to achieve a level of independence sufficient to return home safely.
Discussion and conclusion:
This case demonstrates the successful identification of imminent fracture risk by a PT in a patient with metastatic breast cancer, as well as the therapeutic management that accompanied this process in the acute care setting.
Case Report: Acute arterial occlusion of the right lower extremity due to left atrial invasion from pulmonary metastases of thyroid cancer
Authors: Kentaro Akabane, Tetsuo Watanabe, Yuta Tajima, Shuji Toyama, Yoshihisa Tamate, Tetsuro Uchida
Journal: Front Cardiovasc Med (2023)
Keywords: acute arterial occlusion, left atrial invasion, lower extremity, multiple pulmonary metastases, thyroid cancer
MeSH terms: Case Reports

Cardiac metastases of thyroid cancer are rare. The most common metastatic route is through lymphatic or hematogenous spread to the right side of the heart. Direct invasion of metastases from other adjacent organs to the left side of the heart is even rarer. In many cases, the disease progresses asymptomatically, and symptoms appear only when it is already fatal. A 68-year-old woman underwent total thyroidectomy and right-side lymph node dissection for papillary thyroid cancer and multiple lung metastases 7 years previously. The patient was referred to our hospital due to sudden pain in the right lower extremity and motor disturbance. Computed tomography revealed acute arterial occlusion of the right lower extremity due to tumor dispersal from a left atrial invasion caused by multiple pulmonary metastases of thyroid cancer, and only emergency thrombectomy was performed. Although blood flow was restored, the patient died of respiratory failure 2 months after the procedure. Radical resection is considered difficult in cases of direct invasion of metastases from other adjacent organs because multiple metastases have often already occurred. Therefore, in the terminal stage, it might be too invasive to resect a tumor only to prevent embolism recurrence. The treatment strategy should depend on the patient's prognosis and choice.
Pulmonary Arterial Hypertension with Features of Venous Involvement: A Detective's Task
Authors: Daniel Inácio Cazeiro, Rui Plácido, Miguel Azeredo Raposo, Joana Brito, Alexandra Borba, Tatiana Guimarães, Eugénia Pinto, Pedro Freitas, Fausto J Pinto
Journal: Arq Bras Cardiol (2024)
MeSH terms: Pulmonary Veno-Occlusive Disease / diagnostic imaging, Case Reports, Humans, Hypertension, Pulmonary / etiology, Male, Middle Aged, Pulmonary Arterial Hypertension / etiology

Pulmonary veno-occlusive disease (PVOD) and pulmonary capillary hemangiomatosis are rare types of histopathological substrates within the spectrum of pulmonary arterial hypertension (PAH) with a very poor prognosis. They are characterized by a widespread fibroproliferative process of the small caliber veins and/or capillaries with sparing of the larger veins, resulting in a pre-capillary pulmonary hypertension phenotype. Clinical presentation is unspecific and similar to other PAH etiologies. Definitive diagnosis is obtained through histological analysis, although lung biopsy is not advised due to a higher risk of complications. However, some additional findings may allow a presumptive clinical diagnosis of PVOD, particularly a history of smoking, chemotherapy drug use, exposure to organic solvents (particularly trichloroethylene), low diffusing capacity for carbon monoxide (DLCO), exercise induced desaturation, and evidence of venous congestion without left heart disease on imaging, manifested by a classical triad of ground glass opacities, septal lines, and lymphadenopathies. Lung transplant is the only effective treatment, and patients should be referred at the time of diagnosis due to the rapid progression of the disease and associated poor prognosis. We present a case of a 58-year-old man with PAH with features of venous/capillary involvement in which clinical suspicion, prompt diagnosis, and early referral for lung transplantation were determinant factors for the successful outcome.
Multiple electrolyte disorders triggered by proton pump inhibitor-induced hypomagnesemia: Case reports with a mini-review of the literature
Authors: Camila Costa Souza, Larissa G Rigueto, Henrique Costa Santiago, Antonio Carlos Seguro, Adriana Castello Girardi, Weverton Machado Luchi
Journal: Clin Nephrol Case Stud (2024)
Keywords: case report, electrolyte disorders, hypomagnesemia, omeprazole, proton pump inhibitors
MeSH terms: Case Reports

Drug-induced hypomagnesemia is an adverse effect with the potential for serious and fatal outcomes. Although rare, chronic use of proton pump inhibitors (PPIs) can cause hypomagnesemia due to impaired intestinal absorption, mainly attributed to reduced transcellular transport of magnesium via transient receptor potential melastatin 6 (TRPM6) and 7 (TRPM7) channels. However, a reduction of magnesium paracellular absorption due to the downregulation of intestinal claudins has also been reported. PPI-induced hypomagnesemia can trigger other concomitant electrolyte derangements, including hypokalemia, hypocalcemia, hypophosphatemia, and hyponatremia. Here we report two cases of multiple electrolyte disorders associated with PPI-induced hypomagnesemia, the clinical manifestations of which were cardiac arrhythmia, cognitive changes, and seizure crisis. These cases illustrate the need to monitor serum magnesium levels in patients on long-term PPI use, especially in the elderly and those with malabsorptive bowel syndromes or taking loop diuretics and thiazides.
Dilated cardiomyopathy caused by mutation of the PNPLA2 gene: a case report and literature review
Authors: Shuai Wang, Sha Wu, Daoquan Peng
Journal: Front Genet (2024)
Keywords: adipose triglyceride lipase, autosomal recessive disease, cardiomyopathy, case report, neutral lipid storage disease, patatin-like phospholipase domain-containing protein 2
MeSH terms: Case Reports

Deficiency of adipose triglyceride lipase (ATGL) due to mutation in PNPLA2 causes neutral lipid storage disease with myopathy (NLSDM), an autosomal recessive disorder (MIM: #610717). NLSDM patients are mainly affected by progressive myopathy, cardiomyopathy, and hepatomegaly. Cardiac involvement was reported in 40%-50% of NLSDM patients. Patients with cardiac involvement have adult-onset progressive heart failure, mimicking dilated or hypertrophic cardiomyopathy. The clinical characteristics, genotype-phenotype correlation, and prognosis of cardiomyopathy secondary to PNPLA2 mutation are not understood. We reported two male patients carrying a homozygous splicing mutation NM_020376.4 (c.757 + 1G>T) in PNPLA2, presenting with severe dilated cardiomyopathy and mild skeletal muscle involvement. Through the literature review, the ECG and imaging features and the prognosis of 49 previously reported cases of cardiomyopathy caused by the PNPLA2 mutation were summarized. This study suggests that NLSDM should be considered a cause of cardiomyopathy, especially in those with elevated creatine kinase (CK) levels, regardless of whether symptoms such as muscle weakness or atrophy are present.
Case report: A novel frameshift mutation in BRSK2 causes autism in a 16-year old Chinese boy
Authors: Yu Hu, Miao Li, Yanmei Shen, Tianyun Wang, Qiwei Liu, Zhonghua Lu, Hong Wang, Xuerong Luo, Lixin Yang
Journal: Front Psychiatry (2023)
Keywords: brsk2, autism, clinical phenotype, de novo mutation, exome sequence
MeSH terms: Case Reports

Serine/threonine protein kinases are involved in axon formation and neuronal polarization and have recently been implicated in autism spectrum disorder (ASD) and neurodevelopmental disorders (NDD). Here, we focus on BRSK2, which encodes brain-specific serine/threonine protein kinase 2. Although previous studies have reported 19 unrelated patients with BRSK2 pathogenic variation, only 15 of 19 patients have detailed clinical data. Therefore, more case reports are needed to enrich the phenotype associated with BRSK2 mutations. In this study, we report a novel de novo frameshift variant (c.442del, p.L148Cfs*39) identified by exome sequencing in a 16 year-old Chinese boy with ASD. The proband presented with attention-deficit, auditory hallucinations, limb tremor, and abnormal brain electrical activity mapping. This study expands the phenotypic spectrum of BRSK2-related cases and reveals the highly variable severity of disorders associated with BRSK2.
Case report: Rare benign obstructive disease of the biliary tract-a rare case of eosinophilic cholangitis
Authors: Xiao-Ning Huang, Qi-Min Fang, Yu-Feng Zhong, Jing Liu
Journal: Front Med (Lausanne) (2024)
Keywords: bile duct, eosinophilic cholangitis, glucocorticoid, hypereosinophilic syndrome, primary biliary cholangitis, primary sclerosing cholangitis
MeSH terms: Case Reports

Objective:
Eosinophilic cholangitis (EC) is an uncommon form of benign biliary obstruction. It frequently eludes accurate clinical diagnosis, leading to inappropriate treatment methods. It is our aspiration that this clinical report will impart comprehensive insights into EC and, specifically, the critical role of tomographic examination.
Case summary:
A 34-year-old man was urgently admitted to the hospital due to excruciating abdominal distress persisting for several hours. Following a six-day course of anti-inflammatory therapy, his symptoms displayed marginal improvement, prompting his discharge. He returned to the hospital a month later for re-examination on doctor's orders. Based on the results of the re-examination, the patient refused steroid hormone shock therapy and subsequently underwent laparoscopic left-lateral hepatic lobectomy in order to confirm the diagnosis. The preoperative absolute counts of eosinophils in the peripheral blood were documented as 2.3 × 109/L, 3.06 × 109/L, and 1.50 × 109/L consecutively; concurrently, the corresponding percentages of eosinophils were quantified at levels of 21.90%, 30.70%, and 19.20%. The subsequent postoperative pathological assessment unveiled EC as the definitive diagnosis. The patient has since remained free from disease recurrence and is presently alive.
Conclusion:
When encountering a patient presenting with persistent elevation in absolute eosinophil count in peripheral blood, coupled with imaging manifestations suggestive of intrahepatic periductal inflammation, diagnosis of EC should be highly suspected. The most optimal diagnostic and therapeutic workflow for EC could entail CT-guided liver lesion biopsy, ensued by glucocorticoid pulse therapy, and finally, short-term monitoring utilizing CT or MRI (including T1WI, T2WI, DWI, CEMRI) techniques.
An Inguinal Stomach
Authors: Cláudio Rodrigues, João Luís Pinheiro, Eugénia Cancela
Journal: J Belg Soc Radiol (2023)
Keywords: computed tomography, inguinal hernia, stomach
MeSH terms: Case Reports

Teaching Point: Although inguinal hernias are very common, stomach entrapment within an inguinal hernia is rare.
Clinical outcomes of intermittent panitumumab based-therapy for previously treated older patient with metastatic colorectal cancer: a case report and review of literature
Authors: Gerardo Rosati, Luigi Annunziata, Enrico Scarano, Francesca Dapoto, Domenico Bilancia
Journal: Front Oncol (2024)
Keywords: case report, colorectal cancer, intermittent strategy, older patient, panitumumab, reintroduction
MeSH terms: Case Reports

Background:
Metastatic colorectal cancer is one of the most common causes of cancer death worldwide, and its incidence increases with age. Treating an older RAS and BRAF wild-type patient represents a challenge for the medical oncologist, even more so for those patients defined as "vulnerable" and undergoing at least two lines of therapy. In this context, recent evidence supports the role of retreatment with anti-EGFR inhibitors and the use of liquid biopsy. However, frequent skin toxicity constitutes a limitation of therapy, especially in older people. Since it has been described that continuous administration of these monoclonal antibodies leads to acquired resistance to anti-EGFRs, with consequent therapeutic failure, an intermittent strategy with chemotherapy plus an anti-EGFR could help maintain the efficacy of the treatment over time, delaying the resistance and improving patients' quality of life.
Case presentation:
In this case report, we describe the case of an older RAS and BRAF wild-type patient reporting a clinical response after first-line chemotherapy with FOLFOX + panitumumab, subsequently interrupted in the absence of disease progression. After radiological worsening and two additional lines of therapy, the reintroduction of panitumumab plus 5-fluorouracil, administered with a stop-and-go strategy, allowed the patient to benefit from the same drugs for 2 years from diagnosis, to achieve a clinical response during fourth-line treatment lasting more than 3 years, to delay resistance and to avoid unacceptable anti-EGFR skin toxicity. This patient, who died from a myocardial infarction more than 5 years after diagnosis, represents the case of a good synergy between molecular profile of disease and reintroduction of an anti-EGFR with intermittent strategy.
Introduction to Treating Patients Exposed to Chemical, Biological, Radiological, and Nuclear (CBRN) Threats: A Military Medical Case-Based Curriculum
Authors: Alice Sardarian, Melissa Givens, James F Schwartz, Rebekah Cole, Sherri L Rudinsky
Journal: MedEdPORTAL (2024)
Keywords: case-based learning, editor's choice, emergency medicine, medical toxicology
MeSH terms: Curriculum, Education, Medical, Undergraduate / methods, Humans, Military Medicine / education, Problem-Based Learning / methods, Students, Medical, Surveys and Questionnaires

Introduction:
Ensuring proficiency in responding to, evaluating, and treating chemical, biological, radiological, and nuclear (CBRN) casualties is a critical component of military medical student education. To meet this objective, we developed a case-based CBRN curriculum that can serve as a model to address potential curricular gaps for civilian prehospital, UME, and GME programs.
Methods:
The curriculum was administered in two sessions, 1 month apart, each with individual student preparation, including an optional asynchronous online module and a review of clinical practice guidelines. Session one consisted of a 2-hour introductory lecture, followed by a student reflection. Session two consisted of a 1-hour small-group case study, designed as a multimodal exercise with a corresponding computer-based worksheet and knowledge check.
Results:
Forty-five teams consisting of three to four second-year medical students (N = 170) completed the sessions and course survey. Sixty-four percent of student teams were extremely or quite satisfied with what they learned, 62% found the materials very or quite relevant to their needs, and 69% rated the instructional materials as extremely or quite understandable. Student feedback included designating additional time for worksheet completion.
Discussion:
A case-based training on CBRN patient care earned positive ratings for the clarity of instruction, the impact on students as learners, and the feasibility of the training. Future training evolutions could track student completion of prework, extend the allotted time for activity completion, and evaluate curricular effectiveness through pre-post measurement of students' confidence in their ability to care for a CBRN patient.
Case report: A case of fulminant type 1 diabetes mellitus after COVID-19 vaccination during treatment of advanced gastric cancer: pitfall in managing immune-related adverse events
Authors: Toshimitsu Tanaka, Sachiko Nagasu, Takuya Furuta, Mizuki Gobaru, Hiroyuki Suzuki, Yasutaka Shimotsuura, Jun Akiba, Masatoshi Nomura, Fumihiko Fujita, Takumi Kawaguchi, Keisuke Miwa
Journal: Front Oncol (2023)
Keywords: autopsy, covid-19 vaccination, fulminant type 1 diabetes mellitus, gastric cancer, immune-related adverse event, nivolumab
MeSH terms: Case Reports

The occurrence of fulminant type 1 diabetes mellitus as an adverse event during cancer immunotherapy has been previously reported. However, little is known about the causal relationship between the coronavirus disease 2019 (COVID-19) vaccination and fulminant type 1 diabetes mellitus. A 60-year-old man with advanced gastric cancer, receiving S-1 + oxaliplatin and nivolumab therapy, followed by nab-paclitaxel + ramucirumab as a second-line treatment, with steroid supplementation for complications of hypopituitarism-induced hypoadrenocorticism, was administered a COVID-19 vaccine after three cycles of nab-paclitaxel + ramucirumab. Two days later, he developed severe malaise and anorexia, which required emergency admission to our hospital for suspected adrenal insufficiency. Despite increasing steroids, his general condition changed suddenly after 12 hours leading to his death. Histopathological analysis of autopsy samples revealed loss of the islets of Langerhans, indicating fulminant type 1 diabetes mellitus. We failed to recognize the onset of fulminant type 1 diabetes mellitus because its symptoms were similar to those of adrenal insufficiency. The number of reports on the onset of fulminant type 1 diabetes mellitus after COVID-19 vaccination has been increasing, and in this case, the onset occurred on the second day after COVID-19 vaccination, suggesting an association between vaccination and fulminant type 1 diabetes mellitus. Clinicians should be aware of the risk of fulminant type 1 diabetes mellitus, although rare, after COVID-19 vaccination.
Long-term outcomes in non-CAH 46,XX DSD
Authors: Virginie Grouthier, Anne Bachelot
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: disorders of sex development, fertility, follow-up, gender identity, non-cah 46,xx dsd, quality of life, sexuality
MeSH terms: 46, XX Disorders of Sex Development, Quality of Life, Review, Adrenal Hyperplasia, Congenital / complications, Disorders of Sex Development / genetics, Female, Fertility, Gender Identity, Humans, Male

Differences/disorders of sex development (DSD) comprise a large group of rare congenital conditions. 46,XX DSD, excluding congenital adrenal hyperplasia (CAH), represent only a small number of these diseases. Due to the rarity of non-CAH 46,XX DSD, data on this sex chromosomal aberration were confined to case reports or case series with small numbers of patients. As the literature is still relatively sparse, medical data on the long-term effects of these pathologies remain scarce. In this review, we aim to provide an overview of current data on the long-term follow-up of patients with non-CAH 46,XX DSD, by covering the following topics: quality of life, gender identity, fertility and sexuality, global health, bone and cardiometabolic effects, cancer risk, and mortality. As non-CAH 46,XX DSD is a very rare condition, we have no accurate data on adult QoL assessment for these patients. Various factors may contribute to a legitimate questioning about their gender identity, which may differ from their sex assigned at birth. A significant proportion of gender dysphoria has been reported in various series of 46,XX DSD patients. However, it is difficult to give an accurate prevalence of gender dysphoria and gender reassignment in non-CAH 46,XX DSD because of the rarity of the data. Whatever the aetiology of non-CAH 46,XX DSD, fertility seems to be impaired. On the other hand, sexuality appears preserved in 46,XX men, whereas it is impaired in women with MRKH syndrome before treatment. Although there is still a paucity of data on general health, bone and cardiometabolic effects, and mortality, it would appear that the 46,XX DSD condition is less severely affected than other DSD conditions. Further structured and continued multi-center follow-up is needed to provide more information on the long-term outcome of this very rare non-CAH 46,XX DSD condition.
A rare case of mosaic Klinefelter syndrome in a 45-year-old man leading to successful live birth through ejaculated spermatozoa: a case report and literature review
Authors: Hossam Elzeiny, Franca Agresta, John Stevens, David K Gardner
Journal: Front Genet (2023)
Keywords: ejaculated human spermatozoa, infertility, intracytoplasmic sperm injection, mosaic klinefelter syndrome, severe oligozoospermia
MeSH terms: Case Reports

Background: Men diagnosed with Klinefelter syndrome (KS) commonly exhibit non-obstructive azoospermia or rarely having sperm in their ejaculate, rendering them traditionally considered sterile prior to the introduction of intracytoplasmic sperm injection (ICSI). The presence of mosaic KS may mask the classical phenotype, resulting in underdiagnosis throughout their lifetime. Surgical sperm retrieval through Microdissection Testicular Sperm Extraction (Micro-TESE) combined with ICSI has become the gold standard approach, maximizing reproductive outcomes in these individuals. However, it is noteworthy that approximately 7% of men with KS may exhibit sperm in their ejaculate, providing an opportunity for them to achieve biological parenthood through ICSI. Case Presentation: In this report, we present an exceptional case of a 45-year-old man with Mosaic KS and severe oligozoospermia who successfully achieved pregnancy utilizing ICSI with freshly ejaculated sperm. Remarkably, this case represents the oldest recorded instance of a man with Klinefelter syndrome fathering his own biological child using sperm derived from fresh ejaculate. Conclusion: Although this case is exceedingly rare, it underscores the critical importance of exhausting all possibilities to facilitate biological parenthood in men with KS before considering alternative options such as sperm donation or adoption. By recognizing the potential for successful conception using ejaculated sperm in this population, we can provide individuals with mosaic KS the opportunity to fulfill their desire for biological offspring.