OpenMed/multicare-articles huggingface dataset:
Successful Treatment of Eosinophilic Granulomatosis With Polyangiitis: A Case of Refractory Peripheral Neuropathy and Comorbid Chronic Progressive Pulmonary Aspergillosis Treated With Mepolizumab
Authors: Ryu Sekiya, Tomoyuki Soma, Kazuyuki Nakagome, Makoto Nagata
Journal: Cureus (2024)
Keywords: antineutrophil cytoplasmic antibody (anca) associated vasculitis (aav), chronic pulmonary aspergillosis, eosinophilic granulomatosis with polyangiitis (egpa), mepolizumab, neurological manifestation
MeSH terms: Case Reports

Eosinophilic granulomatosis with polyangiitis (EGPA) is a systemic necrotizing vasculitis accompanied by granulomas and eosinophilic inflammation, exhibiting marked peripheral blood eosinophiliaandasthma. Neuropathy is a difficult-to-treat common manifestation that frequently remains after achieving clinical remission with current therapy in a subpopulation of patients with EGPA with or without life-threatening organ involvement. Refractory neuropathy regularly reduces the quality of life and requires glucocorticoids (GCs) and/or immunosuppressants for a long time. Long-term immunosuppressive therapy is a factor associated with a high risk of adverse effects. Mepolizumab, at three times the dose for severe asthma, provides benefits to induce the remission of relapsing or refractory EGPA and to reduce the doses of GC. Here, we present a case of EGPA successfully treated with mepolizumab at the reference dose for severe asthma. In this case, mepolizumab resolved peripheral neuropathy resistant to corticosteroids, immunosuppressants, and intravenous immunoglobulin and contributed to the improvement of comorbid chronic pulmonary aspergillosis during GC dose reduction.
Intragastric Botulinum Toxin Injection and Botulism: An Alarm for Clinicians
Authors: Mojtaba Mojtahedzadeh, Farhad Najmeddin, Elham Pourheidar, Atabak Najafi, Reza Bahman, Ehsan Yousefi-Mazhin, Hossein Karballaei-Mirzahosseini, Rezvan Hassanpour
Journal: Case Rep Crit Care (2024)
MeSH terms: Case Reports

Clostridium botulinum produces the most potent bacterial toxin, botulinum toxin A (BTXA), which has various therapeutic and cosmetic indications. Intragastric BTXA injection is a new obesity treatment method that was argued to be safe due to the inactivation of BTXA through the liver or metabolization within the gastric wall. However, a 36-year-old woman was admitted to the intensive care unit (ICU) due to developing botulism as a result of an intragastric injection of BTXA. The diplopia, headaches, ptosis, decreased muscle force, and respiratory distress two days after injection were her first chief complaints, and also, she experienced significant dysphagia, hoarse voice, thick tongue, constipation, hyposmia, and hypogeusia after two weeks. This case report highlights the necessity for physicians to have sufficient information about this method and consider possible life-threatening adverse effects including botulism.
Combined non-invasive neuromodulation using transcranial direct current stimulation, motor imagery and action observation for motor, cognitive and functional recovery in cortico-basal degeneration: a single case study
Authors: Juan Pablo Romero, Alexis Martínez-Benito, David de Noreña, Alfonso Hurtado-Martínez, Francisco José Sánchez-Cuesta, Yeray González-Zamorano, Marcos Moreno-Verdú
Journal: EXCLI J (2024)
Keywords: action observation, corticobasal degeneration, motor imagery, non-invasive neuromodulation, transcranial direct current stimulation
MeSH terms: Case Reports

This case report presents a comprehensive assessment and therapeutic intervention using non-invasive motor cortex neuromodulation for a 70-year-old female patient diagnosed with corticobasal degeneration (CBD). The study followed the CARE guidelines. The patient meets the criteria for probable CBD, with neuroimaging evidence of exclusively cortical impairment. The patient underwent a non-invasive neuromodulation protocol involving transcranial direct current stimulation (tDCS) and action observation plus motor imagery (AO+MI). The neuromodulation protocol comprised 20 sessions involving tDCS over the primary motor cortex and combined AO+MI. Anodal tDCS was delivered a 2 mA excitatory current for 20 minutes. AO+MI focused on lower limb movements, progressing over four weeks with video observation and gradual execution, both weekly and monthly. The neuromodulation techniques were delivered online (i.e. applied simultaneously in each session). Outcome measures were obtained at baseline, post-intervention and follow-up (1 month later), and included motor (lower limb), cognitive/neuropsychological and functional assessments. Walking speed improvements were not observed, but balance (Berg Balance Scale) and functional strength (Five Times Sit-to-Stand Test) improved post-treatment. Long-term enhancements in attentional set-shifting, inhibitory control, verbal attentional span, and working memory were found. There was neurophysiological evidence of diminished intracortical inhibition. Functional changes included worsening in Cortico Basal Ganglia Functional Scale score. Emotional well-being and general health (SF-36) increased immediately after treatment but were not sustained, while Falls Efficacy Scale International showed only long-term improvement. The findings suggest potential benefits of the presented neuromodulation protocol for CBD patients, highlighting multifaceted outcomes in motor, cognitive, and functional domains.
Intraoperative radiofrequency ablation for unresectable abdominal paraganglioma: a case report
Authors: Isabelle P A Magalhaes, Bibiana D Boger, Nathalia L Gomes, Guilherme L P Martins, Leomarques A Bomfim Jr, Gustavo F C Fagundes, Roberta S Rocha, Fernando M A Coelho, Jose L Chambo, Ana Claudia Latronico, Maria Candida B V Fragoso, Ana O Hoff, Berenice B Mendonca, Marcos R Menezes, Madson Q Almeida
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: ablation, intraoperative, paraganglioma, radiofrequency, unresectable
MeSH terms: Paraganglioma / diagnostic imaging, Paraganglioma / pathology, Paraganglioma / surgery, Radiofrequency Ablation / methods, Case Reports, Research Support, Non-U.S. Gov't, Abdominal Neoplasms / diagnostic imaging, Abdominal Neoplasms / pathology, Abdominal Neoplasms / surgery, Adult, Humans, Male, Retroperitoneal Neoplasms / diagnostic imaging, Retroperitoneal Neoplasms / pathology, Retroperitoneal Neoplasms / surgery

For pheochromocytoma and paraganglioma (PPGL), the efficacy of percutaneous ablative therapies in achieving control of metastatic tumors measuring <3 cm had been demonstrated in only few reports, and intraoperative radiofrequency ablation (RFA) of locally invasive primary PPGLs has not been reported. We presented the case of a 31-year-old man who had a 9-cm functioning unresectable PPGL. He was treated with 13 cycles of cytotoxic chemotherapy without objective tumor response, according to the Response Evaluation Criteria in Solid Tumors (RECIST). Subsequently, magnetic resonance imaging revealed a 9.0 × 8.6 × 6.0-cm retroperitoneal mass that extended to the inferior portion of the inferior vena cava, the inferior mesenteric artery, and the infrarenal aorta. Biochemical evaluation demonstrated high level of plasma normetanephrine (20.2 nmol/L, normal range <0.9 nmol/L). Genetic investigation showed the germline pathogenic variant c.1591delC (p. Ser198Alafs*22) in the SDHB gene. I131-metaiodobenzylguanidine scintigraphy was negative and Ga68-dotatate PET-CT scan showed high tumor uptake without distant metastases. On open laparotomy, tumor debulking was not possible. Therefore, intraoperative RFA was performed by a highly experienced team of interventional radiologists. At 12 months after the RFA, the tumor volume decreased from 208 to 45 mL (78%), plasma normetanephrine decreased from 20.2 to 2.6 nmol/L (87%), and the doxazosin dose was reduced from 16 to 8 mg/day. To our best knowledge, this was the first report on intraoperative RFA that markedly reduced the size of a large primary unresectable PPGL, along with clinical and biochemical responses.
Emphysematous changes in pneumoperitoneum and tension pneumothorax following robot-assisted bronchoscopy: a case report
Authors: Richard Q Vuong, Shawn T Liechty, Michael D Nicoara
Journal: J Surg Case Rep (2024)
Keywords: case report, fiberoptic bronchoscopy, pneumoperitoneum, pneumothorax, robot-assisted, subcutaneous emphysema
MeSH terms: Case Reports

Pneumoperitoneum is most commonly caused by perforation of a hollow viscus but can also result as an extension of pneumothorax and/or pneumomediastinum. We present a case of pneumoperitoneum preceded by intraprocedural hemoptysis and tension pneumothorax that developed during transbronchial needle aspiration using robot-assisted flexible bronchoscopy. After stabilization and management of the pneumothorax, diagnostic laparoscopy was performed and revealed no evidence of diaphragmatic or intra-abdominal perforation but showed diffuse emphysematous changes in the gastrohepatic ligament, small and large bowel mesentery, and preperitoneal space. These findings suggest the implication of subserosal and preperitoneal emphysema as the pathophysiological mechanism of pneumoperitoneum and pneumothorax complicating bronchoscopy procedures.
Case Report: Vasospastic angina presenting as phantom odor perception
Authors: Haroon Zubair, Valentin Suma, Faisal Masood, M Fuad Jan, Tanvir Bajwa, Babak Haddadian
Journal: Front Cardiovasc Med (2024)
Keywords: case report, odor, perception, vasospastic angina
MeSH terms: Case Reports

Background:
Vasospastic angina usually presents with intermittent episodes of chest pain. It can rarely be associated with the perception of phantom odors.
Case summary:
A 69-year-old woman presented for evaluation of intermittent shortness of breath and chest pain. She reported that she often experienced an abnormal smell sensation just prior to the event. The patient had abnormal smell sensation and shortness of breath at the initiation of exercise stress echocardiography with transient electrocardiographic changes and new regional wall motion abnormalities. Subsequent invasive coronary angiography showed no obstructive epicardial coronary artery disease. The patient was started on calcium channel blocker therapy with resolution of symptoms.
Conclusion:
Phantom odor perception has been rarely reported as an angina-equivalent symptom. Clinicians should have a high index of suspicion in patients presenting with atypical anginal symptoms.
Use of a silver-coated plate to treat a postoperative infection after high tibial osteotomy - a case report
Authors: Rene Burchard, Jan A Graw
Journal: J Bone Jt Infect (2024)
MeSH terms: Case Reports

Unilateral osteoarthritis of the knee can be treated by osteotomy. In case of postoperative infection after high tibial osteotomy, treatment can be challenging and often requires implant removal with the risk of loss of reduction. In the presented case, a 47-year old patient suffered postoperative infection after high tibial osteotomy using an angular stable plate with the need for multiple revision surgeries and anti-infective therapy. Implant exchange to a silver-coated angular plate led to infection control with undisturbed wound healing and further bone consolidation. Full bone consolidation could be achieved radiographically 12 months after the last revision surgery. One-step implant exchange using silver-coated implants could be a promising approach to address postoperative infections after high tibial osteotomy.
Effectiveness of Physiotherapy Intervention in Guillain Barre Syndrome: A Case Report
Authors: Ishwari Gawande, Aditi Akhuj, Snehal Samal
Journal: Cureus (2024)
Keywords: functional independence scale, guillian-barre syndrome, huges scale, physiotherapy management, rehabilitation
MeSH terms: Case Reports

Guillain-Barre syndrome (GBS) is described by a wide range of motor impairment, flaccidity, hyporeflexia, and progressive and ascending flaccid paralysis. Group B Streptococcus, also known as Streptococcus agalactia and Campylobacter jejuni, are Gram-positive bacteria also known as the leading cause of GBS; its variants are acute motor axonal neuropathy (AMAN), acute motor and sensory axonal neuropathy (AMSAN), acute inflammatory demyelinating neuropathy (AIDP), and Miller-Fisher syndrome (MFS). A 20-year-old girl came with complaints of generalized weakness, fever and pain over the lower limb. Huges (GBS disability scale) and the Functional Independence Measure scale were used for recording the outcome measures, and treatment has been demonstrated to lessen challenges and enhance health and quality of life. The rehabilitation protocol results in the improvement of posture motor control and the avoidance of secondary impairments.
Case report: genetic analysis of a novel frameshift mutation in FMR1 gene in a Chinese family
Authors: Chunlei Jin, Xiangdong Zhang, Qiang Lei, Penglong Chen, Hui Hu, Shuangshuang Shen, Jiao Liu, Shixuanbao Ye
Journal: Front Genet (2023)
Keywords: cgg repeat expansion, fmr1, fmrp, wes, fragile x syndrome
MeSH terms: Case Reports

Fragile X syndrome (FXS) [OMIM 300624] is a common X-linked inherited syndrome with an incidence only second to that of trisomy 21. More than 95% of fragile X syndrome is caused by reduced or absent fragile X intellectual disability protein 1 (FMRP) synthesis due to dynamic mutation expansion of the CGG triplet repeat in the 5'UTR and abnormal methylation of the FMR1 (fragile X messenger ribonucleoprotein 1) gene [OMIM 309550]. Less than 5% of cases are caused by abnormal function of the FMRP due to point mutations or deletions in the FMR1 gene. In a proband with clinical suspicion of FXS and no CGG duplication, we found the presence of c.585_586del (p.Lys195AsnfsTer8) in exon 7 of the FMR1 gene using whole exome sequencing (WES). This variant resulted in frameshift and a premature stop codon after 8 aberrant amino acids. This variant is a novel pathogenic mutation, as determined by pedigree analysis, which has not been reported in any database or literature.
Enhancing antifungal treatment for chronic cavitary pulmonary aspergillosis through the addition of endobronchial valve therapy
Authors: Thomas Maitre, Juliette Camuset, Morgane Faure, Christophe Cracco, Georgina Maalouf, Yves Allenbach, Matthias Barral, Arnaud Fekkar, Mihaela Giol, Antoine Parrot, Jacques Cadranel
Journal: Respir Med Case Rep (2024)
MeSH terms: Case Reports

A 62-year-old male experienced anti-MDA5 dermatomyositis with lung involvement, treated with immunosuppressive therapy leading to chronic cavitary pulmonary aspergillosis in left upper lobe. Patient's history was complicated by complete left pneumothorax due to alveolar-pleural fistula occurring because of the rupture of the pulmonary cavitation. Left lung failed to re-expand despite a four-week period of pleural drainage. In addition to antifungal therapy, patient received endobronchial valve therapy in the anterior segmental bronchus of the left upper lobe leading to air leak cessation, left lung re expansion and aspergillosis cavitation closure.
Case report: Recurrent pontine stroke and leukoencephalopathy in a patient with de novo mutation in COL4A1
Authors: Hui Zhang, Kai-Li Fan, Yue-Qi Zhang, Xiao-Yan Hao, Xiang-Zhen Yuan, Shu-Yun Zhang
Journal: Front Neurol (2023)
Keywords: col4a1, padmal, case report, cerebral small vessel disease, stroke
MeSH terms: Case Reports

This report presents a case of pontine autosomal dominant microangiopathy with leukoencephalopathy (PADMAL) in a 35 year-old male patient. The patient exhibited a consistent history of recurrent ischemic strokes, concentrated primarily in the pons region, accompanied by concurrent manifestations of leukoencephalopathy and microbleeds. Genetic evaluation revealed a heterozygous missense mutation consistent with c.3431C>G, p. Thr1144Arg substitution within exon 40 of the COL4A1 gene. This mutation was also identified in the patient's mother, affirming an autosomal dominant inheritance model. Our findings serve as testament to the potential role of mutation in the exon 40 of COL4A1 in the pathogenesis and progression of PADMAL, contributing to ongoing efforts aimed at better understanding the genetic basis of this debilitating disorder.
Successful treatment of anastomotic leakage with an intestinal obstruction catheter and stent by colonoscopy: a case report and brief literature review
Authors: Wang Huang, Zhenzong Tan, Hao Sun
Journal: Front Oncol (2024)
Keywords: anastomotic leakage, colonoscopy, colorectal cancer surgery, intestinal obstruction catheter, intestinal stent
MeSH terms: Case Reports

Background:
Anastomotic leakage (AL) is one of the most common, severe, and difficult-to-treat complications after colorectal cancer surgery. However, to date, the best treatment options for AL remain elusive.
Case description:
Here, we report the case of a 70-year-old man who had previously undergone Hartmann's surgery and developed a large AL after a colostomy reversal surgery in an external hospital. The condition mainly manifested as passage of the fecal material through the abdominal drainage tube accompanied by fever after intestinal surgery. We used a new method involving a transanal obstruction catheter combined with an anastomotic stent, along with fasting, administration of parenteral nutrition, and anti-infection treatment. By following this approach, AL was successfully cured without any complications.
Conclusion:
To the best of our knowledge, this is the first case of the use of a transanal intestinal obstruction catheter combined with an anastomotic stent for treating colorectal AL; the findings may guide clinicians to better treat and manage AL.
Comprehensive Physiotherapeutic Management of Cervical and Lumbar Disc Disease: A Case Study
Authors: Rutuja G Sawalkar, Vrushali Athawale, Tejaswini Fating
Journal: Cureus (2024)
Keywords: cervical disc disease, degenerative spine disease, intervertebral disc disease, lumbar disc disease, physical therapy rehabilitation
MeSH terms: Case Reports

This case report focuses on a 75-year-old male diagnosed with cervical and lumbar disc disease, common conditions associated with intervertebral disc degeneration. The study aims to highlight the significance of physiotherapy in managing these conditions. The patient presented with neck and lower back pain radiating to the limbs which was managed conservatively with analgesics and physiotherapy. The physiotherapeutic intervention included a tailored regimen involving cryotherapy, transcutaneous electrical nerve stimulation (TENS), strengthening exercises, task-specific training, and the use of a stabilometric platform. The pre- and post-intervention assessments revealed improvements in range of motion, muscle strength, and various outcome measures, emphasizing the effectiveness of the holistic physiotherapy approach. The case underscores the importance of physiotherapy in addressing degenerative disc diseases, offering insights into specific interventions such as cryotherapy, targeted exercises, and advanced technologies like stabilometric platforms. This study contributes to the existing literature on the role of physiotherapy in managing cervical and lumbar disc diseases, emphasizing the need for patient education and a comprehensive approach to improve overall physical functioning.
Gastrointestinal Stromal Tumours (GISTs) with KRAS Mutation: A Rare but Important Subset of GISTs
Authors: Dorinda Mullen, Rajkumar Vajpeyi, Jose-Mario Capo-Chichi, Klaudia Nowak, Newton Wong, Runjan Chetty
Journal: Case Rep Gastrointest Med (2023)
MeSH terms: Case Reports

Gastrointestinal stromal tumours (GISTs) are the most common mesenchymal tumours of the GI tract, usually found in the stomach, jejunum, and ileum. Typically, they are KIT or PDGFR-mutated, allowing for targetable treatments with tyrosine kinase inhibitors such as imatinib. Here, we present two KRAS-mutated wild-type gastrointestinal tumours (GISTs). Both cases occurred in the small bowel of females. Immunohistochemical studies on both tumours showed KIT and DOG-1 positivity, with SDHB retained. Molecular analysis revealed a KRAS G12D mutation and a KRAS G13D mutation, respectively. Wild-type GISTs are extremely uncommon. They typically occur in the stomach or the small bowel. KRAS is one of the genes implicated in this subset of GIST, with KRAS G12D being the most frequently encountered mutation. GIST KRAS mutations can arise alone or in conjunction with KIT, PDFRA, or BRAF mutations. Identification of these rare molecular subtypes is clinically important due to their resistance to imatinib therapy.
Case Report: Genetic profiling of small intestine metastasis from poorly differentiated non-small cell lung cancer: report of 2 cases and literature review of the past 5 years
Authors: Mengqin Wang, Gang Chen, Jiang Luo, Zhipeng Fan, Yuying Liu, Conghua Xie, Yan Gong
Journal: Front Oncol (2023)
Keywords: gene mutation, genetic profiling, poorly differentiated nsclc, radiotherapy, small intestine metastasis
MeSH terms: Case Reports

Background:
Poorly differentiated non-small cell lung cancer (NSCLC) is characteristic of high rate of distant metastasis and late stages at diagnosis. Small intestine metastasis is a rare but severe complication of lung cancer with a high rate of mortality. However, there is currently a lack of genetic profile studies on the small intestine metastasis of lung cancer.
Case presentations:
We present 2 cases of male patients in their 60s with primary NSCLC of low differentiation, initially with no distant metastasis detected. Biopsy samples were obtained from the primary pulmonary lesions, and both patients received systematic radiotherapy (RT) and chemotherapy. However, both cases presented with abdominal pain and distension, and immunohistochemistry of small intestine biopsy samples obtained by endoscopy confirmed lung cancer metastasis. Next generation sequencing was used to explore the genetic profiles from the biopsy samples of both the primary pulmonary lesions and small intestine metastases. The correlated genes responsible for the small intestine metastasis from poorly differentiated NSCLC in these 2 patients included TP53, LRP1B, and FGFR2. The reports of small intestine metastasis from poorly differentiated NSCLC with the past 5 years were systematically reviewed and summarized subsequently.
Conclusions:
Poorly differentiated NSCLC with small intestine metastases, while rare, substantially impacts the prognosis and poses major challenges for diagnosis and treatment. Through comparisons of genetic profiles between patients and in the same patient before and after metastasis, we identified the mutations in genes such as TP53, LRP1B, and FGFR2, which were correlated with the occurrence and progression of poorly differentiated NSCLC, as well as its small intestinal metastasis. This discovery has the potential to guide clinicians in developing personalized treatment plans through the manipulation of targeted and radiation therapies.
Iodine-125 brachytherapy in inoperable duodenal papilla carcinoma: a case report series
Authors: Yue Zhang, Shangbin Xu, Jing Xu, Shen Wu, Wenyi Yao, Shengying Lu, Guangtao Zhang, Tingsong Chen
Journal: Front Oncol (2024)
Keywords: 125 i seed implantation, alternative therapy, brachytherapy, duodenal papilla carcinoma, interventional therapy
MeSH terms: Case Reports

Background:
Duodenal papilla carcinoma (DPC) is a rare malignancy often diagnosed at an advanced stage. When surgery is not feasible in localized disease due to advanced age or comorbidities, there remains no consensus on optimal management for these patients.
Case summary:
This case series details the therapeutic outcomes of 125I seed implantation in two elderly patients with DPC. A notable tumor reduction was achieved within two months after implantation. Furthermore, both patients demonstrated radiological tumor response and survived for over six months following the initial 125I seed treatment, marking the first reported instance of 125I seed implantation to effectively control DPC.
Conclusion:
The anti-tumor activity of 125I seed implantation in the reported two cases of DPC underscores its potential as a viable treatment option for inoperable localized DPC.