OpenMed/multicare-articles huggingface dataset:
Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency
Authors: Sinziana Stanescu, Amaya Belanger-Quintana, Carlos Alcalde Martin, Celia Pérez-Cerdá Silvestre, Begoña Merinero Cortés, Belen Gonzalez Pérez, Carmen Fernández García-Abril, Francisco Arrieta Blanco, Esperanza Palacios Valverde, Mercedes Martínez-Pardo Casanova
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

Background. Multiple acyl-CoA dehydrogenase deficiency is an autosomal recessive disorder of the amino acid metabolism and fatty acid oxidation due to the deficiency of the electron transfer protein or electron transfer protein ubiquinone oxidoreductase. The clinical picture ranges from a severe neonatal lethal presentation to late myopathic forms responsive to riboflavin. Up to now, there is no effective treatment for the neonatal form, which exhibits severe metabolic acidosis, hyperammonemia, hypoketotic hypoglycemia, and rhabdomyolysis. We present the case of a child who has had a good long-term outcome after a typical neonatal onset, with a dramatic drop in ammonia levels during the initial metabolic decompensation crisis and adequate control even during intercurrent diseases thereafter with N-carbamylglutamate treatment.
Case report: Large-size intramuscular nodular fasciitis, a challenging histopathologic diagnosis confirmed by molecular detection of USP6 gene rearrangement: Case report and literature review
Authors: Changrong Wang, Wei Wang, Rujun Xu, Jingjing Xiang
Journal: Pathol Oncol Res (2023)
Keywords: usp6, gene rearrangement, intramuscular, large-size, nodular fasciitis
MeSH terms: Fasciitis / diagnosis, Fasciitis / genetics, Fasciitis / pathology, Gene Rearrangement, Review, Case Reports, Adult, Humans, In Situ Hybridization, Fluorescence, Male, Proto-Oncogene Proteins / genetics, Ubiquitin Thiolesterase / genetics, Proto-Oncogene Proteins, Ubiquitin Thiolesterase, USP6 protein, human

The intramuscular subtype of nodular fasciitis (NF) is rare with lesions normally not more than 2 cm in size and characterized by pseudosarcomatous morphology. We report a case of a 27-year-old man with a large-size intramuscular NF. The patient came for treatment complaining of an increasingly enlarged mass in the left upper arm for 4 months. Magnetic resonance imaging (MRI) confirmed the presence of a well-defined tumor measuring 5 cm within the outer edge of the middle humerus. Microscopically, the neoplasm was rich in fibroblasts and myofibroblasts in an interlaced pattern with high mitotic index and evident multinuclear giant cells. Erythrocyte extravasation was easily seen in the stroma. The tumor border was infiltrative. Immunohistochemically, the tumor cells were positive for smooth muscle actin (SMA) and negative for cytokeratin, desmin, H-Caldesmon, CD34, S100, ALK, and β-catenin. Fibrosarcoma was highly suspected by histopathological and immunohistochemical examination. Molecular detection demonstrated evidence of ubiquitin-specific peptidase 6 (USP6) gene rearrangement in this tumor. Based on the findings, the tumor was diagnosed as intramuscular NF. At 56 months after the initial surgery, the patient had recovered with no evidence of recurrence or metastasis. Large-size intramuscular NF is very rare and easily overdiagnosed as malignant tumor due to its obvious pseudosarcomatoid pathological features. USP6 gene rearrangement detection can effectively avoid this major misdiagnosis.
Management of a Case of Mucor Colonization in Breast Tissue Expander Seroma Pocket
Authors: Danielle N Atwood, Pallavi A Kumbla, Brian Yuen, James C Yuen
Journal: World J Plast Surg (2018)
Keywords: breast reconstruction, expander site infection, mucor, mucormycosis
MeSH terms: Case Reports

Mucormycosis has a mortality rate reaching 90%, and is imperative that therapy be initiated rapidly once a diagnosis is made. Successful treatment consists of management of underlying risk factors, surgical debridement, and antifungal therapies. The dilemma whether or not to pursue extensive debridement presents when the wound is cultured positive but the patient is not systemically ill. We present the first reported case of successful medical treatment of a seroma pocket colonized with mucor in a patient undergoing bilateral reconstruction with tissue expander and acellular dermal matrix.
Null phenotype non-Hodgkin lymphoma presenting as a large chest wall mass: case report
Authors: Sakina Sekkate, Mouna Kairouani, Nawfal Mellas, Hanane El Kabbaj, Hind M'rabti, Hassan Errihani
Journal: Pan Afr Med J (2012)
Keywords: lymphoma, chest tumor, diagnosis, null phenotype
MeSH terms: Antineoplastic Combined Chemotherapy Protocols / therapeutic use, Lymphoma, Non-Hodgkin / diagnosis, Thoracic Neoplasms / diagnosis, Case Reports, Combined Modality Therapy, Cyclophosphamide / therapeutic use, Doxorubicin / therapeutic use, Female, Humans, Lymphoma, Non-Hodgkin / pathology, Lymphoma, Non-Hodgkin / therapy, Middle Aged, Morocco, Phenotype, Prednisone / therapeutic use, Thoracic Neoplasms / pathology, Thoracic Neoplasms / therapy, Vincristine / therapeutic use, Vincristine, Doxorubicin, Cyclophosphamide, Prednisone, CHOP protocol

Tumors of chest wall represent a variant entity. Most of them arise from metastasis of malignant tumors or from local invasion by contiguity. However, non-Hodgkin's lymphomas of the chest wall are extremely rare; only a few cases have been reported in the literature. We report a case about a Moroccan woman, with non-Hodgkin null phenotype lymphoma of the chest, treated successfully with CHOP (cyclophosphamide, Doxorubicin, Vincristin and prednisone) followed by local radiotherapy.
Case report: Application of targeted NGS for the detection of non-canonical driver variants in MPN
Authors: Jin Zhang, Kefeng Shen, Min Xiao, Jinjin Huang, Jin Wang, Yaqin Wang, Zhenya Hong
Journal: Front Genet (2023)
Keywords: calr, jak2, mpl, sh2b3, next-generation sequencing, triple-negative myeloproliferative neoplasm
MeSH terms: Case Reports

Background: JAK2, CALR, and MPL gene mutations are recognized as driver mutations of myeloproliferative neoplasms (MPNs). MPNs without these mutations are called triple-negative (TN) MPNs. Recently, novel mutation loci were continuously discovered using next-generation sequencing (NGS), along with continued discussion and modification of the traditional TN MPN. Case presentation: Novel pathogenic mutations were discovered by targeted NGS in 4 patients who were diagnosed as JAK2 unmutated polycythaemia vera (PV) or TN MPN. Cases 1, 2, and 3 were of patients with PV, essential thrombocythemia (ET), and primary myelofibrosis (PMF); NGS detected JAK2 p.H538_K539delinsQL (uncommon), CALR p.E380Rfs*51 (novel), and MPL p.W515_Q516del (novel) mutations. Case 4 involved a patient with PMF; JAK2, CALR, or MPL mutations were not detected by qPCR or NGS, but a novel mutation SH2B3 p.S337Ffs*3, which is associated with the JAK/STAT signal transduction pathway, was found by NGS. Conclusion: NGS, a more multidimensional and comprehensive gene mutation detection, is required for patients suspected of having MPN to detect non-canonical driver variants and avoid the misdiagnosis of TN MPN. SH2B3 p.S337Ffs*3 can drive MPN occurrence, and SH2B3 mutation may also be a driver mutation of MPN.
Suicidal attempt with eliglustat overdose
Authors: Johannes Nadler, Maren Hermanns-Clausen, Karin Dilger
Journal: JIMD Rep (2022)
Keywords: gaucher disease, eliglustat, overdose, poisoning, safety, suicide attempt
MeSH terms: Case Reports

Eliglustat is an orphan medicine used for long-term treatment of Gaucher disease type 1 (GD1) in adults. GD1 is a genetic condition, in which glucosylceramide builds up in the body, typically in liver, spleen, and bone. Clinical signs and symptoms of the disease are anemia, tiredness, easy bruising, hepatosplenomegaly, bone pain, and fractures. Eliglustat works by blocking glucosylceramide synthase (substrate reduction therapy). This medicine is subject to additional safety monitoring by regulatory authorities in the European Union. Scientific literature on eliglustat overdose is not available. We herein describe successful treatment of a suicidal attempt with massive eliglustat overdose. A 29-year-old female with GD1, a poor metabolizer of cytochrome P450 2D6 on a recommended daily dose of 84 mg of eliglustat, had taken 94 capsules of eliglustat (84 mg per capsule). One hour after ingestion of almost 8 g of eliglustat, the patient suffered from somnolence, severe bradycardia (37 bpm), and hypotension (systolic blood pressure of 70 mm Hg). After intravenous administration of atropine (1 mg) and cafedrine/theoadrenaline (100 mg/5 mg) by the called emergency physician, the patient resolved gradually. She remained 24 h with stable hemodynamics at a nearby intensive care unit. During continuous ECG monitoring, increased frequency of supraventricular ectopic activity and a first-degree atrioventricular block were observed. To our knowledge, this is the first case report on a suicidal attempt with eliglustat.
A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome
Authors: Wenwen Zhang, Min Zhou, Cheng Liu, Chen Liu, Tong Qiao, Dian Huang, Feng Ran, Wei Wang, Changjian Liu, Zhao Liu
Journal: Biomed Res Int (2015)
MeSH terms: Aneurysm / genetics, Osteoarthritis / genetics, Smad3 Protein / genetics, Case Reports, Research Support, Non-U.S. Gov't, Aneurysm / complications, China, Genetic Association Studies, Humans, Mutation, Osteoarthritis / complications, Pedigree, SMAD3 protein, human, Smad3 Protein

Aneurysms-osteoarthritis syndrome (AOS) is a recently delineated autosomal dominant disorder characterized by aneurysms, dissections, and tortuosity throughout the arterial tree in association with early onset osteoarthritis, mild craniofacial features, and skeletal and cutaneous anomalies. Previous studies have demonstrated that mutations in SMAD3, a key regulator of TGF-β signal transduction, contribute to AOS. Here, we investigated a family of three generations affected by AOS. A novel SMAD3 mutation, c.266G>A (p.C89Y), was identified and cosegregated with the affected individuals in this family. Our finding expands the mutation spectrum of SMAD3 gene and further strengthens the connection between the presence of aneurysms-osteoarthritis phenotype and SMAD3 mutations, which facilitates the understanding of the genotype-phenotype correlation of AOS.
A Rare Axonal Variant of Guillain-Barré Syndrome following Elective Spinal Surgery
Authors: Jessica R Dowling, Thomas J Dowling Jr
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Acute motor and sensory axonal neuropathy (AMSAN) is a rare axonal variant of Guillain-Barré syndrome. AMSAN is considered the most severe form of GBS, known for its rapid onset of severe symptoms, and often leading to quadriparesis within 7 days of initial symptom onset. We present a case of a middle-aged Caucasian female who developed AMSAN 2 weeks following an elective spinal surgery. Although rare, GBS has been reported as a complication of surgery. GBS classically presents as ascending motor weakness starting in the lower extremities following a gastrointestinal or upper respiratory tract infection. This patient's GBS manifested slightly differently, with both sensory and motor symptoms of her thoracic region and lower extremities, with no preceding history indicative of infection. To the authors' knowledge, this is the first reported case of AMSAN following spinal surgery. Because of its risk of significant morbidity and mortality, as well as similar presentation to more common spinal postoperative complications, GBS should always be included in the differential diagnosis whenever motor or sensory weakness is observed after spinal surgery.
Maternal Parvovirus B19 Infection Causing First-Trimester Increased Nuchal Translucency and Fetal Hydrops
Authors: Olivia Grubman, Farrah Naz Hussain, Zoe Nelson, Lois Brustman
Journal: Case Rep Obstet Gynecol (2019)
MeSH terms: Case Reports

This is a case report of a 31-year-old primigravida who was diagnosed with an asymptomatic acute parvovirus B19 infection in the second trimester of pregnancy and its suspected association with an increased nuchal translucency (NT) measurement. Parvovirus B19 is a single-stranded DNA virus that is cytotoxic to erythroid progenitor cells, causing inhibition of erythropoiesis. While maternal disease is usually mild, fetal infection can result in spontaneous abortion, aplastic anemia, nonimmune fetal hydrops, and fetal demise. This fetus had an increased NT of 3.2 mm at 11 weeks' gestation with a normal male karyotype and microarray analysis on chorionic villi sampling, in addition to a normal fetal echocardiogram at 15 weeks' gestation. The anatomy scan at 20 weeks' and 1-day gestation revealed fetal ascites, pleural effusion, and increased middle cerebral artery peak systolic velocity suspicious for fetal anemia. At this time, maternal serology for parvovirus was positive for IgM and IgG. Amniocentesis, cordocentesis, and intrauterine transfusion were performed. The amniocentesis revealed elevated parvovirus B19 DNA, quantitative PCR (2,589,801 copies/mL, reference range <100 copies/mL). The patient delivered a viable male fetus at 37 weeks' and 6-day gestation, without sequelae of the previously noted hydrops. Parvovirus B19 infection should be a consideration when evaluating increased NT and hydrops fetalis. It warrants close antepartum surveillance and possible intrauterine fetal transfusions. With prompt recognition, proper treatment, and surveillance, these patients can go on to achieve healthy term deliveries. Long-term outcomes of delivered infants require further study.
Full Mouth Oral Rehabilitation by Maxillary Implant Supported Hybrid Denture Employing a Fiber Reinforced Material Instead of Conventional PMMA
Authors: Ala Hassan A Qamheya, Sinem Yeniyol, Volkan Arısan
Journal: Case Rep Dent (2015)

Many people have life-long problems with their dentures, such as difficulties with speaking and eating, loose denture, and sore mouth syndrome. The evolution of dental implant supported prosthesis gives these patients normal healthy life for their functional and esthetic advantages. This case report presents the fabrication of maxillary implant supported hybrid prosthesis by using Nanofilled Composite (NFC) material in teeth construction to rehabilitate a complete denture wearer patient.
Pleural plasmacytomas in a patient with multiple myeloma relapse
Authors: Harith Al-Ataby, Amna Al-Tkrit, Samah Ali, Chandula Seneviratne, Mohamed Omballi
Journal: Respir Med Case Rep (2022)
Keywords: extramedullary plasmacytoma, fdg-pet/ct, multiple myeloma relapse, myelomatous pleural effusion, plasma cell neoplasm, pleural plasmacytoma, solitary plasmacytoma of bone
MeSH terms: Case Reports

Extramedullary plasmacytoma with pleural involvement in the setting of relapsed multiple myeloma (MM) is a rare yet serious condition, which is associated with an adverse prognosis. This report describes a patient with MM who was in complete remission but relapsed with multiple pleural plasmacytomas. The diagnosis was established in a timely manner and the patient was started on appropriate treatment.
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy
Authors: Tommaso Pippucci, Antonia Parmeggiani, Flavia Palombo, Alessandra Maresca, Andrea Angius, Laura Crisponi, Francesco Cucca, Rocco Liguori, Maria Lucia Valentino, Marco Seri, Valerio Carelli
Journal: PLoS One (2013)
MeSH terms: Calcium Channels / genetics, Mutation, Spasms, Infantile / genetics, Case Reports, Research Support, Non-U.S. Gov't, Child, Child, Preschool, Humans, Infant, Male, Phenotype, CACNA2D2 protein, human, Calcium Channels

Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium Channels, is unclear. To date only one CACNA2D2 mutation altering channel functionality has been identified in a single family. In the same family, a rare CELSR3 polymorphism also segregated with disease. Involvement of CACNA2D2 in EE is therefore not confirmed, while that of CELSR3 is questionable. In a patient with epilepsy, dyskinesia, cerebellar atrophy, psychomotor delay and dysmorphic features, offspring to consanguineous parents, we performed whole exome sequencing (WES) for homozygosity mapping and mutation detection. WES identified extended autozygosity on chromosome 3, containing two novel homozygous candidate mutations: c.1295delA (p.Asn432fs) in CACNA2D2 and c.G6407A (p.Gly2136Asp) in CELSR3. Gene prioritization pointed to CACNA2D2 as the most prominent candidate gene. The WES finding in CACNA2D2 resulted to be statistically significant (p = 0.032), unlike that in CELSR3. CACNA2D2 homozygous c.1295delA essentially abolished α2δ-2 expression. In summary, we identified a novel null CACNA2D2 mutation associated to a clinical phenotype strikingly similar to the Cacna2d2 null mouse model. Molecular and statistical analyses together argued in favor of a causal contribution of CACNA2D2 mutations to EE, while suggested that finding in CELSR3, although potentially damaging, is likely incidental.
Ipsilateral Acetabular Fracture with Displaced Femoral Head and Femoral Shaft Fracture: A Complex Floating Hip Injury
Authors: Raja Bhaskara Rajasekaran, Dheenadhayalan Jayaramaraju, Dhanasekara Raja Palanisami, Ramesh Perumal, Rajasekaran Shanmuganathan
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Floating hip injuries involving the acetabulum, femoral head, and the femoral shaft are a very rare presentation. A complex floating hip injury comprising of an ipsilateral acetabular fracture associated with a displaced femoral head fracture and a femoral shaft fracture following a high-velocity road traffic accident presented to us where all the fractures were addressed with internal fixation during the primary surgery. Postoperatively, the patient suffered a dislocation of the femoral head which eventually went on to avascular necrosis at 5 months from the initial presentation. Then, the patient underwent a total hip replacement with an acetabular reconstruction following which he went on to have a good functional outcome. Our experience in dealing with such a complex case shows that it is difficult to set a protocol for such injuries and they need to be addressed on a case-to-case basis depending on the complexity of the injury.
Treating a rare mid-term complication of transapical transcatheter aortic valve implantation (TAVI): a case report
Authors: Eugenio Fraccalanza, Alessandra Fin, Nicola Zingaretti, Filippo Contessi Negrini, Enzo Mazzaro, Ugolino Livi, Pier Camillo Parodi
Journal: Case Reports Plast Surg Hand Surg (2022)
Keywords: heart valve replacement, chestwall, dehiscence, healing, perforator flap, transapical, wound closure
MeSH terms: Case Reports

We report the case of a patient who underwent transcatheter aortic valve implantation via left anterior mini-thoracotomy in whom a periapical subcutaneous collection appeared in the anterior thoracic wall 18 months after the procedure. The tissue defect was efficaciously repaired via intercostal artery perforator flap, preserving the thoracodorsal and internal mammary arteries.
Arthroscopic labral repair concomitantly performed with curved periacetabular osteotomy
Authors: Hiroshi Nakayama, Shigeo Fukunishi, Tomokazu Fukui, Shinichi Yoshiya
Journal: Knee Surg Sports Traumatol Arthrosc (2014)
MeSH terms: Acetabulum / surgery, Femoracetabular Impingement / surgery, Hip Dislocation, Congenital / surgery, Case Reports, Arthroscopy, Female, Femoracetabular Impingement / complications, Fibrocartilage / injuries, Fibrocartilage / surgery, Hip Dislocation, Congenital / complications, Hip Joint / surgery, Humans, Osteotomy, Young Adult

A 23-year-old female presented with pain in the left hip. Radiological examination showed developmental dysplasia of the hip (DDH) combined with acetabular retroversion and posterior wall deficiency. Findings in the physical examination were coincident with femoroacetabular impingement. At surgery, we performed curved periacetabular osteotomy concomitant with arthroscopic labral repair and osteochondroplasty, simultaneously addressing dysplastic acetabulum and femoroacetabular impingement. The final follow-up examination at 18 months showed satisfactory outcome with the D'Aubigne and Postel hip score of 17/18. In addition to accurate diagnosis, the arthroscopic procedure for associated intra- and peri-articular problems seems to help improve the surgical outcome of periacetabular osteotomy performed for patients with DDH.
De Novo Immunoglobulin A Vasculitis Following Exposure to SARS-CoV-2 Immunization
Authors: Muner M B Mohamed, Terrance J Wickman, Agnes B Fogo, Juan Carlos Q Velez
Journal: Ochsner J (2021)
Keywords: bnt162b2 vaccine, covid-19, glomerulonephritis, glomerulonephritis–iga, purpura–schonlein-henoch, vaccines
MeSH terms: Case Reports

Background: Immunizations have been previously described as potential triggering events for the development of certain glomerular diseases. However, glomerular disease occurrences are being reported after exposure to a severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccine. Case Report: A 50-year-old male presented to a nephrology clinic for evaluation of persistent proteinuria. Six weeks prior to evaluation, the patient had reported developing a rash 2 weeks after receiving the first dose of a SARS-CoV-2 vaccine (BNT162b2 mRNA, Pfizer, Inc). His primary care provider treated the rash with corticosteroids, leading to partial improvement of the skin lesions. Three weeks after the first vaccine injection, the patient received his scheduled second vaccine injection. Within 2 days, the rash reappeared. This time, the lesions were more severe in nature. Skin biopsy revealed immunoglobulin A (IgA)-dominant leukocytoclastic vasculitis. After the patient completed 2 weeks of oral corticosteroids, urinalysis revealed proteinuria, and consultation with nephrology was requested. On examination, healing papules were noted on his legs. Serum creatinine 2 weeks after the second dose of vaccine was 0.9 mg/dL. Microscopic examination of the urinary sediment revealed acanthocytes. Urine protein to creatinine ratio 3 weeks after the second dose of vaccine was 1.1 g/day. Serum complements were normal, and all pertinent serology was negative. Kidney biopsy findings were consistent with IgA nephropathy. Conclusion: The clinical presentation and pathologic findings in this case strongly suggest that the Pfizer SARS-CoV-2 vaccine can trigger a clinical syndrome compatible with Henoch-Schönlein purpura. The recurrence of the rash following the second dose argues for a definite causal association by the Naranjo criteria.
Choriocarcinoma Syndrome: A Potentially Fatal Complication of Testicular Cancer
Authors: Vicken Sarkis Zeitjian, Waqas Arslan, Andres Borja-Alvarez, Surabhi Amar
Journal: Case Rep Oncol Med (2019)
MeSH terms: Case Reports

Choriocarcinoma syndrome is a rare clinical entity with advanced, high volume choriocarcinomatous tumors and markedly elevated B-hCG (>50,000 IU/L). Recognition is important because the diagnosis of this syndrome identifies poor prognosis without mortality-proven management options. We present a case of a male in his twenties with metastatic choriocarcinoma who developed choriocarcinoma syndrome acutely after chemotherapy commencement. The patient deceased after hypoxic respiratory failure due to diffuse alveolar hemorrhage as a result of death of vascular tumors. While the prognosis for early diagnosis and treatment is excellent, the prognosis for late diagnosis is grim. Unfortunately, despite surgical or chemotherapeutic intervention, this syndrome has poor outcome.