OpenMed/multicare-articles huggingface dataset:
The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient
Authors: Małgorzata Beręsewicz, Anna Boratyńska-Jasińska, Łukasz Charzewski, Maria Kawalec, Dagmara Kabzińska, Andrzej Kochański, Krystiana A Krzyśko, Barbara Zabłocka
Journal: PLoS One (2017)
MeSH terms: Charcot-Marie-Tooth Disease / genetics, GTP Phosphohydrolases / genetics, Mitochondrial Proteins / genetics, Polymorphism, Single Nucleotide, Case Reports, Amino Acid Substitution / genetics, Arginine / genetics, Case-Control Studies, Cells, Cultured, Charcot-Marie-Tooth Disease / pathology, Fibroblasts / metabolism, Humans, Male, Mutation, Missense, Tryptophan / genetics, Young Adult, Mitochondrial Proteins, Tryptophan, Arginine, GTP Phosphohydrolases, MFN2 protein, human, Charcot-Marie-Tooth disease, Type 2A

Charcot-Marie-Tooth disease type 2A (CMT2A) is an autosomal dominant axonal peripheral neuropathy caused by mutations in the mitofusin 2 gene (MFN2). Mitofusin 2 is a GTPase protein present in the outer mitochondrial membrane and responsible for regulation of mitochondrial network architecture via the fusion of mitochondria. As that fusion process is known to be strongly dependent on the GTPase activity of mitofusin 2, it is postulated that the MFN2 mutation within the GTPase domain may lead to impaired GTPase activity, and in turn to mitochondrial dysfunction. The work described here has therefore sought to verify the effects of MFN2 mutation within its GTPase domain on mitochondrial and endoplasmic reticulum morphology, as well as the mtDNA content in a cultured primary fibroblast obtained from a CMT2A patient harboring a de novo Arg274Trp mutation. In fact, all the parameters studied were affected significantly by the presence of the mutant MFN2 protein. However, using the stable model for mitofusin 2 obtained by us, we were next able to determine that the Arg274Trp mutation does not impact directly upon GTP binding. Such results were also confirmed for GTP-hydrolysis activity of MFN2 protein in patient fibroblast. We therefore suggest that the biological malfunctions observable with the disease are not consequences of impaired GTPase activity, but rather reflect an impaired contribution of the GTPase domain to other MFN2 activities involving that region, for example protein-protein interactions.
Case Report: A Frameshift Mutation in MSH2 Exon 2 in a Kidney Recipient With Muir-Torre Syndrome
Authors: Yifei Feng, Jianqing Feng, Jianrong Bao
Journal: Front Oncol (2021)
Keywords: muir–torre syndrome, kidney transplantation, mismatch repair gene, next-generation sequencing, sebaceous carcinoma, sigmoid adenocarcinoma
MeSH terms: Case Reports

Muir-Torre syndrome (MTS), a rare subtype of Lynch syndrome, is mostly autosomal dominant, which is caused by germline mutations in DNA mismatch repair (MMR) genes, the resulting microsatellite instability (MSI) of which increases the risk of developing sebaceous and other visceral tumors. Several reports have showed an association between immunosuppressive agents and the progression of latent MTS. In this report, we described a 41-year-old man with a history of kidney transplantation, having a rapid growth of the nodule on the anterior chest under immunosuppressive therapy, which was histologically proved to be sebaceous carcinoma. Systemic evaluation for visceral malignancies revealed sigmoid adenocarcinoma. These findings were consistent with the clinical diagnosis of MTS. Histological findings showed an absence of MMR proteins, including MSH2 and MSH6 both in the sebaceous carcinoma and sigmoid adenocarcinoma on immunohistochemical (IHC) analysis. A frame-shift mutation of c.229_230delAG (p. Ser77fs) in the MSH2 exon 2 in the lesion was detected by next-generation sequencing (NGS) analysis. This case report not only reveals a new site of MSH2 mutation in this family of East Asian descent but also highlights the importance of adequate diagnosis for Muir-Torre syndrome, as well as further prevention of the development of latent visceral tumors in kidney transplant recipients.
Combined High-Dose LATTICE Radiation Therapy and Immune Checkpoint Blockade for Advanced Bulky Tumors: The Concept and a Case Report
Authors: Liuqing Jiang, Xiaobo Li, Jianping Zhang, Wenyao Li, Fangfen Dong, Cheng Chen, Qingliang Lin, Chonglin Zhang, Fen Zheng, Weisi Yan, Yi Zheng, Xiaodong Wu, Benhua Xu
Journal: Front Oncol (2021)
Keywords: bulky tumor, high-dose lattice radiation therapy, immunotherapy, lattice radiotherapy, non-small cell lung cancer, spatially fractionated radiotherapy
MeSH terms: Case Reports

Although the combination of immune checkpoint blockades with high dose of radiation has indicated the potential of co-stimulatory effects, consistent clinical outcome has been yet to be demonstrated. Bulky tumors present challenges for radiation treatment to achieve high rate of tumor control due to large tumor sizes and normal tissue toxicities. As an alternative, spatially fractionated radiotherapy (SFRT) technique has been applied, in the forms of GRID or LATTICE radiation therapy (LRT), to safely treat bulky tumors. When used alone in a single or a few fractions, GRID or LRT can be best classified as palliative or tumor de-bulking treatments. Since only a small fraction of the tumor volume receive high dose in a SFRT treatment, even with the anticipated bystander effects, total tumor eradications are rare. Backed by the evidence of immune activation of high dose radiation, it is logical to postulate that the combination of High-Dose LATTICE radiation therapy (HDLRT) with immune checkpoint blockade would be effective and could subsequently lead to improved local tumor control without added toxicities, through augmenting the effects of radiation in-situ vaccine and T-cell priming. We herein present a case of non-small cell lung cancer (NSCLC) with multiple metastases. The patient received various types of palliative radiation treatments with combined chemotherapies and immunotherapies to multiple lesions. One of the metastatic lesions measuring 63.2 cc was treated with HDLRT combined with anti-PD1 immunotherapy. The metastatic mass regressed 77.84% over one month after the treatment, and had a complete local response (CR) five months after the treatment. No treatment-related side effects were observed during the follow-up exams. None of the other lesions receiving palliative treatments achieved CR. The dramatic differential outcome of this case lends support to the aforementioned postulate and prompts for further systemic clinical studies.
Anomalous Origin of the Left Common Carotid Artery from the Main Pulmonary Artery: A Rare Association in an Infant with CHARGE Syndrome
Authors: Onyekachukwu Osakwe, Blaise Jones, Russel Hirsch
Journal: Case Rep Pediatr (2016)

Case Report. Isolated carotid artery originating from the pulmonary trunk is an exceedingly rare anomalous origin of head and neck vessels. We present this finding, along with a persistent embryonic trigeminal artery, in a male infant with multiple cardiac defects and other congenital anomalies associated with CHARGE syndrome. After extensive investigations, cardiac catheterization revealed the anomalous left common carotid artery arising from the cranial aspect of the main pulmonary artery. There was retrograde flow in this vessel, resulting from the lower pulmonary pressure, essentially stealing arterial supply from the left anterior cerebral circulation. The persistent left-sided trigeminal artery provided collateral flow from the posterior circulation to the left internal carotid artery territory, allowing for safe ligation of the anomalous origin of the left common carotid artery, thereby reversing the steal of arterial blood flow into the pulmonary circulation and resulting in a net improvement of cerebral perfusion. Conclusion. The possibility of this vascular anomaly should be considered in all infants with CHARGE syndrome. Surgical repair or ligation should be tailored to the specific patient circumstances, following a careful delineation of all sources of cerebral perfusion.
Extended anterolateral thigh flaps for reconstruction of extensive defects of the foot and ankle
Authors: Lifeng Liu, Xuexin Cao, Lin Zou, Zongyu Li, Xuecheng Cao, Jinfang Cai
Journal: PLoS One (2013)
MeSH terms: Ankle / abnormalities, Ankle / surgery, Foot / surgery, Plastic Surgery Procedures / methods, Surgical Flaps, Thigh, Case Reports, Adolescent, Adult, Ankle / blood supply, Female, Foot / blood supply, Humans, Male, Middle Aged, Young Adult

The anterolateral thigh flap has been used for coverage of defects in the foot and ankle for years. Conventional extended anterolateral thigh flaps do not undergo thinning procedures, which limit their application. Here, a clinical series of 24 patients is reported in which extended anterolateral thigh flaps were used for posttraumatic foot and ankle reconstruction. Of the 24 flaps, 14 were simple extended anterolateral thigh fasciocutaneous flaps and 10 were thinned extended anterolateral thigh flaps. One artery and two veins, including a superficial vein and an accompanying vein, were anastomosed to vascularize each flap. Follow-up of the 24 patients ranged from 10 months to 4 years postoperatively. All 24 flaps survived successfully, except one case that had partial flap necrosis distally due to excessive thinning. The cutaneous flap territory ranged from 250 cm(2) to 400 cm(2) (mean, 297 cm(2)). Only one patient received a debulking procedure. No ulceration occurred in any of the flaps due to contact with the shoe. The extended anterolateral thigh flap is a good alternative for extensive soft tissue defects of the foot and ankle. This study also supports the high reliability and excellent vascular supply of moderate thinned extended ALT flaps.
Pediatric Patient with a Diagnosis of Pelvic Extraosseous Ewing's Sarcoma: A Case Report
Authors: Sabrina Amaouche, Christine Devalck, Nasroolla Damry
Journal: J Belg Soc Radiol (2023)
Keywords: ewing sarcoma, malignant tumor, pediatric, pelvic obstructive symptoms, pelvic region, rapid-growing
MeSH terms: Case Reports

Ewing's sarcoma (ES) is a malignant tumor that arises mainly from bone tissue. Primary extraosseous Ewing sarcoma (EES) is a rare form of the Ewing's sarcoma family of tumor, and pelvic localization is even more unusual, considered to be one of the rarest localizations [1]. We present the case of a seven-year-old boy with persistent abdominal pain. Ultrasound (US), contrast-enhanced computed tomography (CECT), and magnetic resonance imaging (MRI) revealed the presence of a large, solid, and heterogeneous mass in the pelvis. The histological and immunohistochemistry were compatible with pelvic EES. Teaching point: Extraosseous Ewing's sarcoma is a rare pediatric tumoral entity that requires clinician and radiological vigilance and detection.
Efficacy of Sustained Acoustic Medicine as an Add-on to Traditional Therapy in Treating Sport-related Injuries : Case Reports
Authors: David O Draper, Aaron Wells, Kevin Wilk
Journal: Glob J Orthop Res (2020)
Keywords: acute pain, athletic training, chronic pain, clinical trial, continuous ultrasound, long-duration ultrasound, low-intensity ultrasound, musculoskeletal healing, musculoskeletal injury

Context:
Musculoskeletal injuries are prevalent in sports, and the application of Sustain Acoustic Medicine (SAM) as a home-use add-on therapy to reduce pain and to increase the probability of athletes returning to sports was evaluated in a case series.
Objectives:
To examine the improvements in pain and return to function of athletes using SAM in conjunction with traditional therapies after sustaining sports-related musculoskeletal injuries.
Introduction:
Traditional treatments such as rest, physical therapy, manual therapy, a combination of rest, ice compression, and elevation (RICE) are standard of care for musculoskeletal injuries and do not provide adequate accelerated healing to return athletes to activity. SAM is an FDA-approved bio-regenerative technology, which can provide mechanotransductive and thermal stimuli to accelerate tissue healing and reduction in pain daily. Interventions: A case series of 18 athletes who showed little or no improvement with traditional therapies where prescribed SAM treatment as an add-on daily home-use intervention. The study included athletes with sports musculoskeletal injuries, including the arm/shoulder, upper leg/glutes/hips, knees, back, and foot/ankle. Clinical outcomes were recorded along with the ability of athletes' ability to go back to sports, and satisfaction and usability measures of the home treatment. Results: All athletes were satisfied with the usability and comfort of the therapy and 93%reported the therapy was sufficiently discrete. Clinical outcomes indicate all athletes showed an average pain decrease of 3.33±0.82 (p≤0.05) numerical rating scales (NRS), improvement in function, and quality of life. 87% of the athletes documented an improvement in function, and 55% were able to return to sports after conservative intervention failed. Conclusion: The results of this study indicate that SAM improves athletes' clinical outcomes. Over 50% of athletes were able to return to sports and resume normal daily function after conservative intervention had failed with addition of daily SAM treatment.
Choriocarcinoma presenting as an isolated bone marrow metastasis-a case report
Authors: Sarika Singh, Manjula Sardhana, Suneeta Sharma, Prakash Chitralkar
Journal: Ecancermedicalscience (2014)
Keywords: bone marrow metastasis in choriocarcinoma, choriocarcinoma presenting as bone marrow metastasis, choriocarcinoma with bone marrow metastasis
MeSH terms: Case Reports

Gestational trophoblastic diseases (GTD) are a heterogenous group of disorders that arise from trophoblastic epithelium. They can follow molar pregnancy (50%), abortions (25%), normal pregnancy (22.5%), and ectopic pregnancy (2.5%) [Robert JK, Lora HE, Brigitte MR (ed) Blaustein Pathology of the Female Genital Tract 6th edn (Springer) pp. 1101-7]. Occurrence of choriocarcinoma following normal delivery presenting as an isolated bone marrow metastasis is extremely rare, and no case has been cited in the literature, to the best of our knowledge. We are reporting a case of choriocarcinoma that presented with isolated bone marrow metastasis only.
Anomalous origin of the right coronary artery from the mid-left anterior descending coronary artery: association with acute myocardial infarction
Authors: Semaan Kobrossi, Charbel Saade, Wissam Alajaji, Habib Dakik
Journal: BJR Case Rep (2017)
MeSH terms: Case Reports

Congenital abnormalities of the coronary arteries are uncommon but can be associated with important cardiac events depending on their location and the course of the aberrant artery. Conventional angiography has been the gold standard for the diagnosis of these anomalies. The recent development of cardiac CT has allowed accurate and non-invasive depiction of coronary artery anomalies in terms of their origin, course and termination. We describe the case of a patient presenting with acute inferior myocardial infarction who was found to have a very rare congenital abnormality consisting of an anomalous origin of the right coronary artery from the mid-segment of the left anterior descending. Coronary angiography and cardiac CT angiographic images are shown and discussed.
AREDS Formula, Warfarin, and Bleeding: A Case Report from the Michigan Anticoagulation Quality Improvement Initiative
Authors: Eric Puroll, Steven T Heidt, Brian Haymart, James B Froehlich, Eva Kline-Rogers, Geoffrey D Barnes
Journal: Case Rep Med (2014)

Importance. The anticoagulant warfarin has been shown to interact with other medications, vitamin K containing foods, and over-the-counter products. These interactions may inhibit or potentiate the effect of warfarin, resulting in serious clotting or bleeding events. Observations. We report the case of an 84-year-old woman with atrial fibrillation, prescribed warfarin in May 2010 for stroke prevention. Her international normalized ratio (INR) was stable until April 2013, when she was prescribed AREDS (Age Related Eye Disease Study) formula pills, an eye vitamin compound, to slow the progression of age-related macular degeneration. This change was not reported to the Anticoagulation Service. Eighteen days later, she presented to the ED with groin and back pain and an INR of 10.4. An abdominal CT revealed a retroperitoneal hemorrhage with extension in multiple muscles. Both warfarin and AREDS were discontinued and the patient was discharged to subacute rehabilitation. This case was reviewed by the Anticoagulation Service and actions were taken to prevent similar adverse events. Conclusions. This report provides an example of the potential danger of supplement use, in this case, AREDS formula, in patients prescribed warfarin, and the importance of communicating medication changes to the providers responsible for warfarin management.
The Lhermitte-Duclos disease: a rare bilateral cerebellar location of a rare pathology
Authors: Mehdi Borni, Brahim Kammoun, Fatma Kolsi, Souhir Abdelmouleh, Mohamed Zaher Boudawara
Journal: Pan Afr Med J (2019)
Keywords: dysplastic gangliocytoma, cowden's syndrome, gangliocytoma
MeSH terms: Cerebellar Neoplasms / diagnostic imaging, Hamartoma Syndrome, Multiple / diagnostic imaging, Magnetic Resonance Imaging / methods, Case Reports, Cerebellar Neoplasms / pathology, Hamartoma Syndrome, Multiple / pathology, Headache / etiology, Humans, Male, Middle Aged, Muscle Rigidity / etiology, Nausea / etiology, Photophobia / etiology

Dysplastic gangliocytoma or Lhermitte-Duclos disease is a rare disorder characterized by a slowly progressive unilateral tumour mass of the cerebellar cortex. It is probably hamartomatous, although the exact pathogenesis remains unknown. Lhermitte-Duclos disease was recently encountered to be part of a multiple hamartoma-neoplasia complex (Cowden's syndrome). It typically presents in young adults, although it has been encountered at all ages. We present the case of bilateral cerebellar location of this pathology in a 50-year-old man presented with a progressive onset and worsening of headaches accompanied by nuchal rigidity, photophobia and nausea awakening each morning. Upon physical examination, the patient was awake with a discrete right vestibular syndrome made of positive Romberg without nystagmus. Magnetic Resonance Imaging (MRI) was performed and revealed salient "tiger stripe" appearance of the bilateral cerebellar cortex relevant to a Lhermitte-Duclos disease.
Case Report: Massive Hepatocellular Carcinoma Complete Surgical Resection After Portal Vein Embolization and Multimodality Therapy
Authors: Qianyi Lin, Dexiong Chen, Kangde Li, Xiaomin Fan, Qi Cai, Weihong Lin, Chunhong Qin, Tao He
Journal: Front Radiol (2022)
Keywords: case report, hepatic artery infusion chemotherapy, hepatocellular carcinoma, portal vein embolization (pve), programmed cell death-1 inhibitor, tyrosine kinase inhibitor (tki)
MeSH terms: Case Reports

A high proportion of massive patients with hepatocellular carcinoma (HCC) are not amenable for surgical resection at initial diagnosis, owing to insufficient future liver remnant (FLR) or an inadequate surgical margin. For such patients, portal vein embolization (PVE) is an essential approach to allow liver hypertrophy and prepare for subsequent surgery. However, the conversion resection rate of PVE only is unsatisfactory because of tumor progression while awaiting liver hypertrophy. We report here a successfully treated case of primary massive HCC, where surgical resection was completed after PVE and multimodality therapy, comprising hepatic artery infusion chemotherapy (HAIC), Lenvatinib plus Sintilimab. A pathologic complete response was achieved. This case demonstrates for the first time that combined PVE with multimodality therapy appears to be safe and effective for massive, potentially resectable HCC and can produce deep pathological remission in a primary tumor.
Cervical Pott's disease: case report and review of the literature
Authors: Dognon Kossi François de Paule Adjiou, Michèle Yolande Moune, Fresnel Lutèce Ontsi Obame, José Dimbi Makoso, Nourou Dine Adeniran Bankole, Mustapha Hemama, Nizare El Fatemi, Mouley Rachid El Maaqili
Journal: Pan Afr Med J (2022)
Keywords: tuberculosis, case report, management, spinal
MeSH terms: Spinal Cord Compression / etiology, Spinal Cord Compression / surgery, Spinal Cord Injuries, Tuberculosis, Spinal / complications, Tuberculosis, Spinal / diagnosis, Review, Case Reports, Aged, Humans, Male, Neck Pain, Paresthesia

Tuberculosis is a major public health problem in the world. Spinal tuberculosis (Pott disease) is a frequently encountered extrapulmonary form of the disease. Cervical spinal tuberculosis is relatively rare. We report the case of a 66-year-old patient admitted for cervical Pott's disease managed surgically and the positive outcome. A patient with a history of pulmonary tuberculosis present 3 months ago persistent neck pain with tingling and heaviness in both upper limbs. The neurological examination was normal without any sensory or motor deficit. Spinal cord magnetic resonance imaging (MRI) showed a lesion centered on the vertebral body of C4 with spinal cord compression and epiduritis without signs of spinal cord injury. The patient underwent a corpectomy of C3 and C4 with an iliac graft and anterior cervical plate. The anatomopathological examination revealed a Pott disease. He was therefore put on antituberculous chemotherapy for 12 months. Three months later the neck pain and tingling disappeared in the upper limbs. Cervical Pott's disease is relatively rare. Surgical management is indicated in the case of spinal instability or spinal cord compression.
Case Report: Clinical delineation of CACNA1D mutation: New cases and literature review
Authors: Alshaimaa Alzahrani, Maha Alshalan, Mohammed Alfurayh, Abdulaziz Bin Akrish, Najlaa A Alsubeeh, Fuad Al Mutairi
Journal: Front Neurol (2023)
Keywords: cacna1d gene, autism (asc), case report, childhood neurologic disorders, intellectual disability, pervasive development disorder, seizure
MeSH terms: Case Reports

Background:
Calcium ions are involved in several human cellular processes; nevertheless, the relationship between calcium channelopathies (CCs) and autism spectrum disorder (ASD) or intellectual disability (ID) has been previously investigated. We delineate the spectrum of clinical phenotypes and the symptoms associated with a syndrome caused by an inherited gain-of-function mutation in CACNA1D in a family with a history of neuropsychiatric disorders. We also review the clinical and molecular phenotype of previously reported variants of CACNA1D.
Case presentation:
We report the case of a 9-year-old female patient, diagnosed with ASD, severe ID, hyperactivity, and aggressive impulsive behaviors. The father, who was a 65-year-old at the time of his death, had ID and developed major depressive disorder with catatonic features and nihilistic delusion, followed by rapidly progressive dementia. He died after experiencing prolonged seizures followed by post-cardiac arrest. The patient's sister was a 30-year-old woman, known to have a severe ID with aggressive behaviors and sleep disorders. The sister has been diagnosed with bipolar disorder and psychosis. Through whole exome sequencing, a heterozygous previously identified and functionally characterized missense likely pathogenic variant was identified in the CACNA1D gene NM_001128840.3: c.2015C > T (p.Ser672Leu). These findings are consistent with the genetic diagnosis of autosomal dominant primary aldosteronism, seizures, and neurological abnormalities. This variant was found in the heterozygous status in the patient, her father, and her affected sister.
Conclusion:
This case report will help to determine the key clinical features of this syndrome, which exhibits variable clinical presentations.