OpenMed/multicare-articles huggingface dataset:
Case report: Total arch replacement with a frozen elephant trunk utilizing open hybrid in-situ fenestration technique for thoracic aortic arch aneurysm
Authors: Yusuke Takei, I-Hui Wu, Chih-Yang Chan, Nai-Hsin Chi
Journal: Front Surg (2023)
Keywords: frozen elephant trunk, in-situ fenestration, stent graft, thoracic aortic arch aneurysm, total arch replacement
MeSH terms: Case Reports

Introduction:
The frozen elephant trunk technique is a surgical procedure developed for concomitant repair of downstream descending thoracic aorta as a first stage operation for arch resections. Proximalization of the sutured anastomosis reduces technical difficulty of total arch replacement. In this procedure, an anastomosis is performed more proximally using a stent graft. Connect the head and neck vessels are created using in-situ fenestration method.
Case presentation:
This study presents the case of a 78-year-old woman with a large thoracic aortic arch aneurysm that was successfully treated with a modified frozen elephant trunk technique (open in situ fenestration). For this method, a hole was created in the neck branches (the left subclavian artery and left common carotid artery), and peripheral stent grafts were placed to simplify neck branch reconstruction. This minimized the risk of recurrent laryngeal nerve injury and bleeding and shortened the procedure time.
Conclusion:
The outcomes of this study showed a safe alternative total arch replacement procedure.
Permanent neonatal diabetes due to a novel insulin signal peptide mutation
Authors: Suhaimi Hussain, Johari Mohd Ali, Muhammad Yazid Jalaludin, Fatimah Harun
Journal: Pediatr Diabetes (2013)
MeSH terms: Diabetes Mellitus, Type 1 / congenital, Infant, Newborn, Diseases / genetics, Insulin / genetics, Case Reports, Research Support, Non-U.S. Gov't, Child, Preschool, Diabetes Mellitus, Type 1 / genetics, Female, Humans, Infant, Newborn, Insulin, Isophane / administration & dosage, Insulin, Regular, Human / administration & dosage, Isophane Insulin, Human, Potassium Channels, Inwardly Rectifying / genetics, Protein Precursors / genetics, Protein Sorting Signals / genetics, Insulin, Insulin, Regular, Human, Isophane Insulin, Human, Kir6.2 channel, Potassium Channels, Inwardly Rectifying, Protein Precursors, Protein Sorting Signals, Insulin, Isophane, preproinsulin

We report a rare case of permanent neonatal diabetes (PND) due to insulin (INS) gene mutation in a 51-month-old girl who presented with hyperglycemia in the neonatal period. Mutational analysis of KCNJ11 and INS was performed and this detected a novel heterozygous c.38T>G (p.Leu13Arg) INS de novo mutation. The non-conservative change substitutes the highly conserved L(13) residue within the hydrophobic core region of the preproinsulin signal peptide. Given the frequent tendency of heterozygous INS mutations to exhibit dominant negative disease pathogenesis, it is likely that the mutant preproinsulin perturbed the non-mutant counterpart progression and processing within the β-cells, and this resulted to a permanent form of congenital diabetes.
Metastatic Melanoma of Uncertain Primary with 5-Year Durable Response after Conventional Therapy: A Case Report with Literature Review
Authors: Jomjit Chantharasamee, Jitsupa Treetipsatit
Journal: Case Rep Oncol Med (2018)
MeSH terms: Case Reports

A 51-year-old Thai woman presented with bilateral leg edema and painful left inguinal mass for 6 months. Physical examination revealed matted bilateral inguinal lymph nodes up to 9 cm in size. Otherwise, physical examinations including skin were unremarkable. The result of the lymph node incisional biopsy is consistent with that of metastatic melanoma. The extensive investigation demonstrated multiple intra-abdominal and inguinal lymph nodes without detectable primary tumor. Palliative radiation and conventional chemotherapy were prescribed. The CT scan between treatments showed that the response was stable disease, but the following CT scan demonstrated a gradual decrease in size from August 2012 to November 2017 including the lesions outside radiation fields. Moreover, she developed vitiligo during a follow-up visit. The previous data reported the median overall survival among the patients who were treated with conventional chemotherapy ranging from 9.1 to 9.3 months and whose 5-year survival was less than 10%. This case represented a metastatic melanoma of unknown primary who achieved a durable response by conventional treatment. The clinical features including nodal-only disease, vitiligo, and abscopal effect of radiation were considered to be the favorable factors.
Jumping translocations of chromosome 1q occurring by a multi-stage process in an acute myeloid leukemia progressed from myelodysplastic syndrome with a TET2 mutation
Authors: Ina Lee, Mary A Gudipati, Elizabeth Waters, Vu H Duong, Maria R Baer, Ying Zou
Journal: Mol Cytogenet (2019)
Keywords: acute myeloid leukemia, jumping translocations, myelodysplastic syndrome, tet2
MeSH terms: Case Reports

Background:
Jumping translocations (JTs) are rare chromosome rearrangements characterized by re-localization of one donor chromosome to multiple recipient chromosomes. Here, we describe an acute myeloid leukemia (AML) that progressed from myelodysplastic syndrome (MDS) in association with acquisition of 1q JTs. The sequence of molecular and cytogenetic changes in our patient may provide a mechanistic model for the generation of JTs in leukemia.
Case presentation:
A 68-year-old man presented with pancytopenia. Bone marrow aspirate and biopsy showed a hypercellular marrow with multilineage dysplasia, consistent with MDS, with no increase in blasts. Karyotype and MDS fluorescence in situ hybridization (FISH) panel were normal. Repeat bone marrow aspirate and biopsy after 8 cycles of azacitidine, with persistent pancytopenia, showed no changes in morphology, and karyotype was again normal. Myeloid mutation panel showed mutations in RUNX1, SRSF2, ASXL1, and TET2. Three years after diagnosis, he developed AML with myelodysplasia-related changes. Karyotype was abnormal, with unbalanced 1q JTs to the short arms of acrocentric chromosomes 14 and 21, leading to gain of 1q.
Conclusions:
Our patient had MDS with pathogenic mutations of the RUNX1, SRSF2, ASXL1, and TET2 genes and developed 1q JTs at the time of progression from MDS to AML. Our data suggest that the formation of 1q JTs involves multiple stages and may provide a mechanistic model for the generation of JTs in leukemia.
A rare case of concomitant sicca keratopathy and ipsilateral central facial palsy in Wallenberg's dorsolateral medullary syndrome
Authors: Deborah De Bruyn, Elisabeth Van Aken, Kristien Herman
Journal: GMS Ophthalmol Cases (2017)
Keywords: wallenberg’s syndrome, central facial palsy, dorsolateral medullary infarction, medulla oblongata, sicca keratopathy, subclavian steal syndrome, superior salivatory nucleus, supranuclear facial palsy
MeSH terms: Case Reports

Objective: To describe a patient with a right-sided supranuclear facial palsy and concomitant sicca keratopathy of the right eye following right-sided dorsolateral medullary infarction. Methods: Our patient underwent a complete ophthalmologic and neurologic examination including biomicroscopy, fundus examination, cranial nerve examination, Shirmer I test, and magnetic resonance imaging of the brain. Results: A 61-year-old woman presented in emergency with a central facial nerve palsy on the right side and truncal ataxia. Neurologic assessment revealed a concurrent dysphagia, dysarthria, hypoesthesia of the right face, and weakness of the right upper limb. Magnetic resonance imaging of the brain showed an old left-sided cerebellar infarction, but a recent ischemic infarction at the level of the right dorsolateral medulla oblongata was the cause of our patient's current problems. One month after diagnosis of the right-sided dorsolateral medullary syndrome, there were complaints of ocular irritation and a diminished visual acuity in the right eye. Biomicroscopy showed a sicca keratopathy with nearly complete absence of tear secretion on the Shirmer I test, but with normal eye closure and preserved corneal reflexes and sensitivity. Conclusion: A dorsolateral medullary syndrome can have a variable expression in symptomatology. Our case is special because of the combination of an ipsilateral supranuclear facial palsy with normal upper facial muscle function together with an ipsilateral sicca keratopathy as a result of a nearly absent tear secretion. We hypothesized that the mechanism underlying the patient's sicca keratopathy ipsilateral to the supranuclear facial palsy involved the superior salivatory nucleus, which is situated in the caudal pons inferiorly of the motor facial nucleus and is most probably affected by a superior extension of the infarcted area in the right medulla oblongata.
Hibernoma of the Upper Extremity: Complete Case of a Rare but Benign Soft Tissue Tumor
Authors: Thomas Reichel, Kilian Rueckl, Annabel Fenwick, Niklas Vogt, Maximilian Rudert, Piet Plumhoff
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

Hibernoma is a rare benign lipomatous tumor showing differentiation of brown fatty tissue. To the author's best knowledge, there is no known case of malignant transformation or metastasis. Due to their slow, noninfiltrating growth hibernomas are often an incidental finding in the third or fourth decade of life. The vast majority are located in the thigh, neck, and periscapular region. A diagnostic workup includes ultrasound and contrast-enhanced MRI. Differential diagnosis is benign lipoma, well-differentiated liposarcoma, and rhabdomyoma. An incisional biopsy followed by marginal resection of the tumor is the standard of care, and recurrence after complete resection is not reported. The current paper presents diagnostic and intraoperative findings of a hibernoma of the upper arm and reviews similar reports in the current literature.
A case of stiff dog syndrome associated with anti-glutamic acid decarboxylase antibodies
Authors: Theresa E Pancotto, John H Rossmeisl Jr
Journal: J Clin Mov Disord (2017)
Keywords: autoimmune, canine, gad antibodies, stiff person syndrome
MeSH terms: Case Reports

Background:
The stiff person syndrome (SPS) is a rare and debilitating autoimmune disorder with an unknown pathogenesis and variable clinical presentation that can present a diagnostic challenge. Although entities that clinically mimic stiff-person spectrum disorders (SPSD) have manifested in horses, they have not been reported in dogs.
Case presentation:
We describe a 2-year-old beagle dog presented for progressive attacks of muscular rigidity and lordosis with superimposed spasms of the appendicular muscles triggered by tactile stimulation which resulted in marked gait impairment. Resting electromyography revealed continuous motor unit activity in the axial musculature. Compared to age-matched healthy beagle dogs, this patient had elevated glutamic acid decarboxylase antibody concentrations in serum and cerebrospinal fluid.
Conclusion:
This dog presented with phenotypic, electrodiagnostic, and immunologic criterion consistent with an SPSD, including elevated anti-GAD antibody titers, which we have termed the "stiff dog syndrome (SDS)". Durable clinical improvement was achieved with symptomatic and immunosuppressive treatments including baclofen, gabapentin, prednisone, and intravenous immunoglobulin.
A giant hand lipoma as a rare cause of secondary carpal tunnel syndrome - A case report
Authors: Mariana Barreira, Nuno Marques, Vicente Campos, Guilherme Marques, Sérgio Gonçalves, Sandra Stefanova Alves
Journal: Int J Surg Case Rep (2020)
Keywords: carpal tunnel syndrome, case report, compression neuropathies, hand surgery, lipoma
MeSH terms: Case Reports

Introduction:
Lipomas are a rare cause of compressive neuropathy and they lead to atypical clinical presentation that can mimic carpal tunnel syndrome.
Case presentation:
The authors describe a rare presentation of a carpal tunnel syndrome recurrence after a hand giant lipoma, presenting with rapidly compression neuropathy of the median nerve, 6 months after de primary surgery.
Discussion:
Lipomas are common benign soft tumours. Their occurrence in the hand remains rare and they rarely cause secondary entrapment neuropathies. Carpal tunnel syndrome is mostly idiopathic and bilateral. Local factors should be suspected when these neuropathies present with atypical symptomatology or even when they recur after primary conventional surgical release. Investigation should consider images studies as this correct preoperative assessment leads to successful diagnosis and treatment.
Diffuse Alveolar Hemorrhage Associated with Edoxaban Therapy
Authors: Kenichi Nitta, Hiroshi Imamura, Akihiro Yashio, Satoko Kashima, Katsunori Mochizuki
Journal: Case Rep Crit Care (2016)

Introduction. The main adverse effect of anticoagulant therapy is bleeding, and major bleeding, including intracranial, gastrointestinal, and retroperitoneal bleeding, has been reported as an adverse effect of edoxaban, a direct oral anticoagulant (DOAC). Bleeding during systemic anticoagulation with edoxaban presents a therapeutic conundrum, because there is currently no safe or efficacious reversal agent to stop major bleeding. Case Report. A 51-year-old woman had multiple traumatic injuries, including lower limb fractures. On day 8, she developed deep venous thrombosis, and edoxaban was administered orally. On day 38, she developed fungemia, which was treated with an antifungal drug. On day 43, she presented with dyspnea. Chest computed tomography scan showed bilateral diffuse ground-glass opacities in the whole lung fields. The results of the subsequent workup (i.e., serum levels of the antineutrophil cytoplasmic antibody, antinuclear antibody, and antiglomerular basement membrane antibody) and microbiological study were unremarkable. Based on these findings, her condition was diagnosed as diffuse alveolar hemorrhage (DAH) associated with edoxaban therapy. The lung opacities disappeared spontaneously after edoxaban therapy was discontinued. Conclusion. DAH is a dangerous complication associated with edoxaban therapy. DOACs, including edoxaban, should be prescribed with caution, especially for patients in a critical condition.
Conjunctival metastasis as an initial sign of small cell lung cancer
Authors: Afsun Sahin, Nilgun Yildirim, Deniz Goren Sahin, Hikmet Basmak, Mustafa Acikalin
Journal: Case Rep Med (2014)

Introduction. To report a case of a conjunctival metastasis as the initial manifestation of small cell lung cancer. Methods. Observational case report. Results. A 50-year-old man without known systemic disease developed a conjunctival mass in his right eye. He underwent incisional biopsy of the tumor and systemic evaluation. Histopathologically, the conjunctival mass was a metastatic small cell carcinoma. Further evaluation revealed a primary small cell lung carcinoma with metastasis to liver and bones. The primary and metastatic tumors were treated with chemotherapy. Conclusion. Conjunctival metastasis may be the initial manifestation of lung cancer. It should be considered in the differential diagnosis of a deep conjunctival mass.
Direct restorative treatment of missing maxillary laterals with composite laminate veneer: a case report
Authors: Bora Bagis, Elif Aydoğan, Yildirim H Bagis
Journal: Open Dent J (2008)

This clinical report describes a direct composite laminate veneer restoration of the maxillary anterior teeth in one chair time to produce a better esthetic appearance in a patient with diastemata and missing laterals.
Treatment for a B-cell acute lymphoblastic leukemia patient carrying a rare TP53 c.C275T mutation: A case report
Authors: Runan Wang, Wenliang Wang, Xuan Liu, Huan Wang, Bin Zhang, Shuang Li, Haining Zhang, Jiawei Yang, Jishun Zhao, Qiuying He, Jihong Zhang, Danping Liu, Liangchun Hao
Journal: Front Oncol (2023)
Keywords: b-cell acute lymphoblastic leukemia, mrd, tp53 cc275t mutation, bortezomib, children
MeSH terms: Case Reports

TP53 mutations are associated with poor prognosis in the vast majority of cancers. In this study, we present a pediatric B-cell acute lymphoblastic leukemia (B-ALL) patient carrying a rare TP53 c.C275T mutation. This extremely rare mutation affects an amino acid residue located between the TAD domain and the DNA-binding domain of p53. The patient was resistant to most conventional chemotherapy regimens and remained minimal residual disease (MRD)-positive after five rounds of such regimens. We tested the sensitivity of the patient's leukemic cells to 21 anti-cancer drugs by performing in vitro drug sensitivity assays. The results showed that bortezomib had a very strong killing effect on the patient's leukemic cells. Therefore, we subsequently treated the patient with bortezomib combined with vindesine, cytarabine, and fludarabine. After one course of treatment, the patient became MRD-negative, and there was no recurrence during a 9-month follow-up. In conclusion, our report suggests that the TP53 c.C275T mutation is associated with poor prognosis in B-ALL. Fortunately, bortezomib combined with chemotherapy could achieve a better therapeutic effect than conventional regimens in this type of ALL.
Mycobacterium mageritense Prosthetic Joint Infection
Authors: Maria A Caravedo Martinez, Lucas S Blanton
Journal: Case Rep Infect Dis (2020)
MeSH terms: Case Reports

Prosthetic joint infections (PJI) complicate up to 2% of arthroplasties and are usually caused by typical bacterial agents (e.g., staphylococci and streptococci). Although an infrequent cause of PJI, mycobacterial species are difficult to eradicate, as they adhere to hardware, form biofilms, and have high rates of antimicrobial resistance. Mycobacterium mageritense is a rapidly growing Mycobacterium that has been infrequently described as a cause of surgical and device-related infections. We herein described a case of prosthetic knee infection due to M. mageritense. The patient was treated with removal of hardware, antimicrobials, and prosthetic knee reimplantation with a good outcome. To our knowledge, M. mageritense has not been previously described as a cause of PJI in the medical literature.
Case Report: Dermoscopic features of oral lichen planus - the evolution of mucoscopy
Authors: Sidharth Sonthalia, Sangeeta Varma, Abhijeet Kumar Jha, Deepak Jakhar, Feroze Kaliyadan
Journal: F1000Res (2018)
Keywords: brown, clods, curvilinear, dermoscopy, dotted, leukoplakia, lichen planus, linear, mucosal, mucoscopy, oral, speckled-pearly erosion, veil-like, vessels

Dermoscopy, a non-invasive technique for cutaneous diagnosis is being increasingly studied in various disorders of the skin, nails and scalp. However, it has been under-utilized for the diagnosis and characterization of mucosal disorders. The dermoscopic characterization of cutaneous lichen planus and its variants has been well documented with Wickham's striae constituting the hallmark of the condition. However, the dermoscopic features of oral lichen planus with hand-held or videodermoscopy remain to be elucidated. We present the case of a young adult man who presented with asymptomatic white lacy lesions over a bluish-black background over the tongue, patchy hyperpigmentation of the buccal mucosae and gingivae, and longitudinal melanonychia involving some nails. History of intake of any drugs preceding the lesions, smoking, chewing of betel nut and dental implants was negative. Family history was non-contributory. There were no cutaneous lesions suggestive of lichen planus. Mucoscopy (dermoscopy of the mucosa, oral in this case) and onychoscopy were done followed by biopsy from the tongue that confirmed the diagnosis of lichen planus. Oral mucoscopy of the tongue revealed a tri-colored pattern with structureless veil-like grey-white areas (modified Wickham's striae), well-demarcated red glossy erosions, and violaceous-to-brown clods. Additionally, vascular pattern of dotted and linear to curved vessels along the borders of leukoplakia-like areas and erosions were observed. Onychoscopy confirmed lichen planus-associated melanonychia. Dermoscopy also proved useful in conveniently ruling out other disorders typified by mucosal and nail pigmentation such as Laugier Hunziker syndrome and drug-induced changes. Although direct oral microscopy has been used in defining features of oral lichen planus, to the best of our knowledge this case is the first report on mucoscopy or dermoscopy of oral lichen planus.
Spectral domain optical coherence tomography features of multiple subfoveal retinal pigment epithelial tears after intravitreal bevacizumab
Authors: Kakarla V Chalam, Ravi K Murthy, Shailesh K Gupta, Vikram S Brar
Journal: Indian J Ophthalmol (2011)
MeSH terms: Angiogenesis Inhibitors / administration & dosage, Angiogenesis Inhibitors / adverse effects, Antibodies, Monoclonal / administration & dosage, Antibodies, Monoclonal / adverse effects, Retinal Perforations / chemically induced, Retinal Perforations / diagnosis, Tomography, Optical Coherence, Case Reports, Aged, Antibodies, Monoclonal, Humanized, Bevacizumab, Female, Fundus Oculi, Humans, Intravitreal Injections, Macular Degeneration / complications, Macular Degeneration / drug therapy, Macular Degeneration / physiopathology, Vision Disorders / etiology, Visual Acuity, Angiogenesis Inhibitors, Antibodies, Monoclonal, Antibodies, Monoclonal, Humanized, Bevacizumab

Retinal pigment epithelial (RPE) tear has been described to occur spontaneously, after laser photocoagulation and in recent times, after intravitreal injection of anti-vascular endothelial growth factor (VEGF) agents. In the latter case, the rapid contraction of the choroidal vascular membrane underneath a serous RPE detachment is believed to be the underlying cause. Preservation of good visual acuity after the occurrence of RPE tear with continued use of intravitreal VEGF agents has been reported. In this case report, we describe the occurrence of multiple RPE tears with the use of intravitreal bevacizumab and also correlate the preservation of visual acuity with features seen on spectral domain optical coherence tomography.
Case Report: Reactive Lymphohistiocytic Proliferation in Infant With a Novel Nonsense Variant of IL2RG Who Received BCG Vaccine
Authors: Amal M Yahya, Suleiman Al-Hammadi, Nidal O AlHashaykeh, Salwa S Alkaabi, Abdulghani S Elomami, Asia A AlMulla, Majed M Alremeithi, Rewan M Kabbary, Ranjit Vijayan, Abdul-Kader Souid
Journal: Front Pediatr (2021)
Keywords: bcg vaccine, iei, il2rg, mendelian susceptibility to mycobacterial disease (msmd), scid, hemophagocytic lymphohistiocytosis (hlh), lymphohistiocytic proliferation, lymphoid proliferation
MeSH terms: Case Reports

We present here a male young infant with X-linked severe combined immunodeficiency (MIM#300400) due to the novel nonsense variant of IL2RG (interleukin 2 receptor, gamma; MIM#308380), NM_000206.2(IL2RG):c.820_823dup p.Ser275Asnfs*29. He developed aggressive reactive lymphohistiocytic proliferation after receiving the live-attenuated Bacillus Calmette-Guérin (BCG) vaccine at birth. This report advocates for modifying the current practice of early use of BCG. The natural history of his disease also suggests considering IL2RG variants as a potential cause of "X-linked recessive Mendelian susceptibility to mycobacterial disease" (MSMD). His reactive lymphohistiocytic proliferation and massive hepatosplenomegaly simulated hemophagocytic lymphohistiocytosis (HLH, likely triggered by the BCG disease). This entity was masked by the absence of fever and markedly elevated inflammatory biomarkers. Thus, his findings stimulate discussion on the need to modify the diagnostic criteria of HLH, in order to accommodate conditions, such IL2RG variants that block systemic inflammation.