OpenMed/multicare-articles huggingface dataset:
Acute Coronary Syndrome Manifesting as an Adverse Effect of All-trans-Retinoic Acid in Acute Promyelocytic Leukemia: A Case Report with Review of the Literature and a Spotlight on Management
Authors: K Govind Babu, K N Lokesh, M C Suresh Babu, Gita R Bhat
Journal: Case Rep Oncol Med (2016)

Background. Acute promyelocytic leukemia is characterized by t(15;17). This leads to the formation of PML/RARα which blocks the differentiation of blasts at the stage of promyelocytes. This is reversed by all-trans-retinoic acid (ATRA), a vitamin A derivative. Acute myocardial ischemia is a rare side effect of ATRA. Case Report. We report a case of acute coronary syndrome manifesting as an adverse effect of ATRA in a lady with APL who had no other risk factors for cardiovascular disease. Conclusions. We emphasize the need for high index of suspicion for the diagnosis of this entity. In the light of this case, the rare instances of ATRA associated acute myocardial ischemia recorded in the literature and the options available for treatment of acute promyelocytic leukemia sans ATRA have been reviewed.
Case report: Giant coronary artery aneurysms with severe stenosis and multiple abdominal artery aneurysms
Authors: Hongli Gao, Hongwei Li
Journal: Front Med (Lausanne) (2023)
Keywords: kawasaki disease, abdominal artery aneurysms, coronary artery bypass grafting, giant coronary artery aneurysms, stenosis
MeSH terms: Case Reports

Background:
Giant coronary artery aneurysms (GCAAs) were relatively rare. Little was known about its characteristics, its etiology and its therapy. GCAAs with multiple abdominal artery aneurysms (AAAs) were more unusual and rarer.
Case presentation:
A 29-year-old female presented to our hospital with abrupt-onset abdominal pain in the left upper quadrant and then she died in 2018. In 2016, prior to this visit, she came to our department for intermittent retrosternal compression pain during rest or sports activities. Medical history showed she had a coronary artery aneurysm (CAA) in 2004. We found evidence of multiple coronary aneurysms with severe stenosis and multiple AAAs and coronary artery bypass grafting (CABG) was carried out. In combination with laboratory analysis, imaging studies, and pathological examination, CAA may result from the long-term effects of Kawasaki disease (KD). Finally, the patient died of a ruptured abdominal aneurysm.
Conclusions:
We report a rare case of GCAAs with severe stenosis and multiple AAAs in a young woman with a history of KD-induced coronary aneurysm. Although the understanding of the optimal treatment strategy for GCAAs combined with multiple aneurysms was limited, we found that CABG was effective in the treatment of GCAAs in this patient. In the clinical treatment of patients with GCAAs, attention should be paid to the examination of systemic blood vessels.
Direct composite laminate veneers: three case reports
Authors: Bora Korkut, Funda Yanıkoğlu, Mahir Günday
Journal: J Dent Res Dent Clin Dent Prospects (2013)
Keywords: composite restorations, dental esthetic, discoloration, fracture,, laminate, resin
MeSH terms: Case Reports

Re-establishing a patient's lost dental esthetic appearance is one of the most important topics for contemporary dentistry. New treatment materials and methods have been coming on the scene, day by day, in order to achieve such an aim. Most dentists prefer more conservative and aesthetic approaches, such as direct and indirect laminate veneer restorations, instead of full-ceramic crowns for anteriors where aesthetics is really important. Laminate veneers are restorations which are envisioned to correct existing abnormalities, esthetic deficiencies and discolo-rations. Laminate veneer restorations may be processed in two different ways: direct or indirect. Direct laminate veneers have no need to be prepared in the laboratory and are based on the principle of application of a composite material directly to the prepared tooth surface in the dental clinic. Indirect laminate veneers may be produced from composite materials or ceramics, which are cemented to the tooth with an adhesive resin. In this case report, direct composite laminate veneer technique used for three patients with esthetic problems related to fractures, discolorations and an old prolapsed restoration, is described and six-month follow-ups are discussed. As a conclusion, direct laminate veneer restorations may be a treatment option for patients with the esthetic problems of anterior teeth in cases similar to those reported here.
Proteus Syndrome, a rare case with an unusual presentation: Case report
Authors: N Amer, J Al Helal, M Al Hajji, A Al Abduljabbar, M Al Arfaj, H Al Sadery, A Awadallah
Journal: Int J Surg Case Rep (2020)
Keywords: intestinal lipomatoses, macrodactyly, proteus syndrome, small bowel volvulus
MeSH terms: Case Reports

Introduction:
Proteus Syndrome is a very rare syndrome, where only 200 cases has been reported so far.
Presentation of case:
We were presented with a 45 year male with features of chronic Intestinal Obstruction. On Examination he had a giant right middle finger (Fig. 1), giant left forearm, with amputated left hand, and massive abdominal distension with tenderness in upper abdomen.
Discussion:
Proteus Syndrome (PS) is a very rare syndrome, diagnosis of which is based on Biescker's criteria, either one finding from Criteria A, or two from B, or three from C. Confirmation of the disease is by finding genetic variation in the AKT1 gene. In addition to the presence to some of the criteria in our patient, he also had numerous intestinal lipomatosis, involving almost most of his small intestine. This in addition to high riding caecum and a narrow long mesentery which contributed to the development of small Bowel volvulus.
Conclusion:
PS should be suspected whenever we encounter patients with macrodactyly and this should alert us to the possibility of other congenital anomalies.
Primary Pleomorphic Undifferentiated Sarcoma-a Rare Renal Localization: A Case Report
Authors: Soufiane Mellas, Ahmed Amine Bouchikhi, Mohamed-Fadl Tazi, Abdelhak Khallouk, Jallal-Eddin Elammari, Mohamed-Jamal El Fassi, Naoufal Mellas, Moulay Hassan Farih
Journal: Case Rep Urol (2012)

Undifferentiated pleomorphic sarcoma is known as a soft tissue sarcoma. Very few cases of this tumor originating from the renal parenchyma or renal capsule have been reported. We report a case of a 70-year-old patient admitted for enormous ureterohydronephrosis and pyelonephritis due to a pelvic ureter lithiasis. After draining by ureteral double J catheter, a nephroureterectomy was performed for nonfunctional kidney confirmed by scintigraphy. The histopathological study shows a pleomorphic undifferentiated sarcoma. The patient was sent to oncologists. Chemotherapy was proposed but the family decided to stop the treatment. The patient passed away 10 months later. Clinicians and pathologists should be aware of the very low occurrence of this renal tumor, which is extremely rare. Currently there is no consensus about its management. Our case extends the literature concerning this tumor.
Segmental Renal Ischemia following Transplantation of Horseshoe Kidney as Separate Allografts
Authors: J T Foster, P E Morrissey
Journal: Case Rep Transplant (2013)

Introduction. Horseshoe kidney is a congenital anomaly that presents unique challenges for the transplant surgeon. The mere presence of horseshoe kidney should not preclude consideration for transplantation. Case Report. A 33-year-old women suffering from end-stage renal disease underwent deceased donor renal transplant with a divided horseshoe kidney. We present a postoperative complication and the technical strategy for transplant salvage. The patient currently has excellent graft function. Discussion. Horseshoe kidneys do present challenges for successful transplantation. Though case reports of successful transplantation are increasing, we present a technical complication and successful transplant salvage strategy. Technical descriptions in the literature of successful back-table preparation strategies should help more transplant surgeons to begin to utilize this resource. Conclusion. This study concludes that horseshoe kidneys can be successfully used for transplantation and provides a technical strategy to salvage the transplant after a unique complication associated with these donor kidneys.
Case Report and Literature Review: Catastrophic Embolism Following Cosmetic Injection of Autologous Fat in the Face
Authors: Chunyu Liu, Zhaolun Cai, Lingli Zhang, Muke Zhou, Li He
Journal: Front Med (Lausanne) (2021)
Keywords: autologous fat emboli, cerebral infarction, complications, cosmetic fat injection in the face, visual loss
MeSH terms: Case Reports

Injection of autologous fat on the face is a commonly performed procedure in plastic surgery. However, it can lead to rare but devastating complications due to fat embolism. In this study, we presented two cases of cerebral infarction and/or sudden vision loss after cosmetic injections of autologous fat on the face. Two women underwent injections into the temporal and frontal areas, respectively. In case 1, the patient underwent decompressive craniectomy as her condition deteriorated continuously and died. In case 2, the patient's vision had not improved at the 3-month follow-up visit. Imaging examinations showed occlusion of the right external carotid artery in case 1, and multiple retinal arterioles were segmentally occluded in case 2. We also screened relevant studies via a systematic search of PubMed (last updated on May 9, 2020) and performed a narrative review due to the significant heterogeneity between the studies. To prevent this catastrophic event, the autologous fat injection should be performed carefully. If embolization does occur, early diagnosis and timely treatment may help improve functional outcomes.
Metastatic Crohn's Disease: An Approach to an Uncommon but Important Cutaneous Disorder
Authors: Babak Aberumand, Jessica Howard, John Howard
Journal: Biomed Res Int (2017)
MeSH terms: Crohn Disease / pathology, Skin Diseases / pathology, Case Reports, Review, Crohn Disease / complications, Diagnosis, Differential, Female, Humans, Male, Skin Diseases / etiology, Skin Diseases / therapy, Young Adult

Objective. To provide physicians with a clinical approach to metastatic Crohn's disease (MCD). Main Message. Metastatic Crohn's disease, defined as skin lesions present in areas noncontiguous with the gastrointestinal tract, is the rarest cutaneous manifestation of Crohn's disease. MCD lesions vary in morphology and can arise anywhere on the skin. MCD presents equally in both sexes and across age groups. Cutaneous findings may precede, develop concurrently with, or follow gastrointestinal involvement. A detailed history and thorough physical examination including a full-skin exam may help to exclude other dermatoses, as MCD can mimic other common disorders. A biopsy is required for a definitive diagnosis. Treatment options for MCD remain underwhelming due to the lack of randomized control studies and varying responses of reported therapeutic methods. Topical, intralesional, and systemic corticosteroids, antibiotics, traditional immunosuppressants, and surgery have shown mixed results. Recently, biologics have shown promise, even with refractory cases of MCD. Conclusion. MCD is an important cutaneous manifestation of this inflammatory disorder. Although a rare entity, early recognition can provide opportunity for successful therapeutic intervention.
Duplication of the fallopian tube
Authors: Narayanan R, Rajeev Ma
Journal: J Hum Reprod Sci (2008)
Keywords: congenital, fallopian tube, hysterosalpingography, infertility, mullerian duct anomaly, partial duplication, tubal pregnancy
MeSH terms: Case Reports

Hysterosalpingography accurately delineates the uterine and tubal lumen, and hence is routinely performed for the evaluation of infertility.We observed a case of infertility where uterine cavity was normal but fallopian tubes were bifurcated at the ampullary region. Mullerian duct anomalies are reported in literature, but maldevelopment of fallopian tube in isolation is rare. This abnormality can present as infertility, ectopic pregnancy, in association with urinary tract anomalies or as failure of sterilisation method.
Hybrid Clinical and Histopathological Pattern in Annular Lesions: An Overlap between Annular Elastolytic Giant Cell Granuloma and Granuloma Annulare?
Authors: Felipe Ladeira de Oliveira, Luisa Kelmer Côrtes de Barros Silveira, Alice de Miranda Machado, José Augusto da Costa Nery
Journal: Case Rep Dermatol Med (2012)

Annular elastolytic giant cell granuloma (AEGCG) is a rare granulomatous skin disease of unclear pathogenesis which belongs to the group of disorders in the skin and elastic fibers with similar clinical features of granuloma annulare (GA). This case report is intended to describe a rare hybrid pattern in histopathology demonstrating coexistence of AEGCG and GA. An endocrine disease, such as diabetes mellitus (DM), could contribute to the coexistence of both lesions, and this possibility must be included in the medical investigation.
Case Report: A New Gain-of-Function Mutation of STAT1 Identified in a Patient With Chronic Mucocutaneous Candidiasis and Rosacea-Like Demodicosis: An Emerging Association
Authors: Martin Martinot, Anne Sophie Korganow, Mathieu Wald, Julie Second, Elodie Birckel, Antoine Mahé, Laurent Souply, Mahsa Mohseni-Zadeh, Laure Droy, Julien Tarabeux, Satoshi Okada, Mélanie Migaud, Anne Puel, Aurelien Guffroy
Journal: Front Immunol (2021)
Keywords: demodex, il-17, stat1 gof, demodicosis, inborn error of immunity, mutation, rosacea, rosacea-like demodicosis
MeSH terms: Candidiasis, Chronic Mucocutaneous / genetics, Mite Infestations / genetics, Rosacea / genetics, STAT1 Transcription Factor / genetics, Case Reports, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Adult, Candidiasis, Chronic Mucocutaneous / pathology, Female, Gain of Function Mutation, Humans, Mite Infestations / pathology, Rosacea / pathology, Skin / pathology, STAT1 Transcription Factor, STAT1 protein, human

Purpose:
Heterozygous missense STAT1 mutations leading to a gain of function (GOF) are the most frequent genetic cause of chronic mucocutaneous candidiasis (CMC). We describe the case of a patient presenting a new GOF mutation of STAT1 with the clinical symptoms of CMC, recurrent pneumonia, and persistent central erythema with papulopustules with ocular involvement related to rosacea-like demodicosis.
Methods:
Genetic analysis via targeted next-generation sequencing (NGS; NGS panel DIPAI v.1) exploring the 98 genes most frequently involved in primary immunodeficiencies, including STAT1, was performed to identify an underlying genetic defect.
Results:
NGS identified a novel variant of STAT1, c.884C>A (exon 10), p.T295Y, not previously described. This variant was found to be gain of function using an in vitro luciferase reporter assay. Rosacea-like demodicosis was confirmed by substantial Demodex proliferation observed via the microscopic examination of a cutaneous sample. A review of literature retrieved 20 other cases of STAT1 GOF mutations associated with early-onset rosacea-like demodicosis, most with ocular involvement.
Conclusion:
We describe a new STAT1 GOF mutation associated with a phenotype of CMC and rosacea-like demodicosis. Rosacea-like demodicosis appears as a novel and important clinical phenotype among patients with STAT1 GOF mutation.
Case report: Novel compound heterozygous variants in the PANK2 gene in a Chinese patient diagnosed with ASD and ADHD
Authors: Siqi Dong, Ya Tuo, Zihan Qi, Yuanfeng Zhang, Xiaoni Liu, Ping Huang, Xiangjun Chen
Journal: Front Neurol (2023)
Keywords: pank2 mutation, atypical pkan, autism spectral disorder (asd), case report, pantothenate kinase-associated neurodegeneration (pkan)
MeSH terms: Case Reports

The PANK2 gene, which encodes mitochondrial pantothenate kinase 2 protein, is the disease-causing gene for pantothenate kinase-associated neurodegeneration (PKAN). We report a case of atypical PKAN with autism-like symptoms presenting with speech difficulties, psychiatric symptoms, and mild developmental retardation. Magnetic resonance imaging (MRI) of the brain showed the typical "eye-of-the-tiger" sign. Whole-exon sequencing revealed PANK2 p.Ile501Asn/p.Thr498Ser compound heterozygous variants. Our study highlights the phenotypic heterogeneity of PKAN, which can be confused with autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD) and requires careful clinical identification.
Pneumothorax and pneumomediastinum in pregnancy: a case report
Authors: S Sathiyathasan, K Jeyanthan, G Furtado, R Hamid
Journal: Obstet Gynecol Int (2009)
MeSH terms: Case Reports

Case Report. A 37 years old patient at 40 weeks gestation presented with acute severe hypoxia with a seizure followed by fetal bradycardia. Caesarean section was performed under GA and she was intubated and ventilated. History revealed longstanding right pleural endometriosis with multiple pneumothoraces and hydrothoraces. A CT chest showed extensive bilateral pnenumothoraces. Her clinical condition improved with a left-sided chest drain. Discussion. Severe hypoxia and seizures in a patient with previous history of pnenumothorax are highly suggestive of tension pneumothorax. Radiological investigations are vital for diagnosis. The traditional treatment approach to recurrent pneumothorax has been thorocotomy with bleb or bulla resection and pleurodeisis. The advantages of thorocoscopic surgical treatment over thorocotomy are decreased time of exposure to anaesthetic drugs, rapid lung expansion, decreased post operative pain, and a potentially shorter post operative recovery. In any future pregnancy due to the high risk of recurrence of pneumothorax Contemporary obstetric management should determine the method of delivery and continuous lumbar/epidural anesthesia should be used if at all feasible. Preconceptual counseling about this risk is vital, and women must be advised about potential serious adverse outcomes.
Atypical esthesioneuroblastoma invading oral cavity: a case report and review of the literature
Authors: Sandra Ventorin von Zeidler, Rafaela Guidi, Rita de Cássia Gonçalves Alencar, Renato Aguiar, Elismauro Francisco Mendonça, Aline Carvalho Batista, Rejane Faria Ribeiro-Rotta
Journal: Diagn Pathol (2014)
MeSH terms: Esthesioneuroblastoma, Olfactory / pathology, Nasal Cavity / pathology, Nose Neoplasms / pathology, Case Reports, Review, Esthesioneuroblastoma, Olfactory / diagnostic imaging, Female, Humans, Mouth / pathology, Nasal Cavity / diagnostic imaging, Neoplasm Invasiveness, Neoplasm Recurrence, Local / pathology, Nose Neoplasms / diagnostic imaging, Radiography, Young Adult

Esthesioneuroblastoma is an uncommon tumour of neuroectodermal origin. The authors describe a rare presentation of an atypical esthesioneuroblastoma invading oral cavity. The clinical presentation, aetiology, diagnosis, and management of this condition are discussed. The patient developed significant swelling in the right anterosuperior alveolar mucosa and had moderate tooth mobility. Conventional x-rays and computed tomography revealed a large osteolytic lesion, with imprecise limits. Histological findings along with immunohistochemical staining results and clinical features led to the diagnosis of high-grade esthesioneuroblastoma. Local recurrences and neck metastasis were detected. The rare oral findings produced delayed in diagnosis which may lead to a compromise in planning and execution of further radical management and thus a poor prognosis.
Virtual slides:
The virtual slides for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1168853011139286.
Successful Management of Teeth with Different Types of Endodontic-Periodontal Lesions
Authors: Hind Alquthami, Abdulaziz M Almalik, Faisal F Alzahrani, Lana Badawi
Journal: Case Rep Dent (2018)
MeSH terms: Case Reports

Endodontic-periodontal diseases often present great challenges to the clinician in their diagnosis, management, and prognosis. Understanding the disease process through cause-and-effect relationships between the pulp and supporting periodontal tissues with the aid of rational classifications leads to successful treatment outcomes. In this report, we present several treatment modalities in patients with different endodontic-periodontal lesions. A modification to the new endodontic-periodontic classification, Al-Fouzan's classification, was also added. The first case was classified as retrograde periodontal disease (i.e., primary endodontic lesion with drainage through the periodontal ligament). The second case was diagnosed as an iatrogenic periodontal lesion caused by root perforation. The third case was diagnosed as an iatrogenic periodontal lesion caused by tooth trauma due to orthodontic treatment. The first two cases were managed with a nonsurgical approach, whereas the third case was managed with nonsurgical and surgical approaches. All patients showed complete healing of soft and hard tissue lesions. A thorough understanding of the disease history and the patient's signs and symptoms, complete examination with full investigation, and the use of a systematic step-by-step approach in the management of such challenging endodontic-periodontal lesions with regular recall visits were very useful and successful.
Beta Blocker Therapy for Congenital Hepatic Arteriovenous Fistula in Two Neonates
Authors: Hongjun Ba, Lingling Xu, Huimin Peng, Yuese Lin, Xuandi Li, Youzhen Qin, Huishen Wang
Journal: Front Pediatr (2020)
Keywords: hepatic arteriovenous fistula, metoprolol, neonates, propranolol, pulmonary arterial hypertension
MeSH terms: Case Reports

Introduction: Hepatic arteriovenous fistula (HAVF) is an abnormal communication between the hepatic arteries and hepatic veins. This condition is treated mainly using interventional closure and surgery. However, these procedures are associated with many postoperative complications and high mortality. Propranolol and other beta blockers have been used widely and effectively to treat infantile hemangiomas. However, no reports describe the use of these drugs to treat congenital HAVF. Case Description:Here, we present two cases in which beta blocker therapy was used to treat congenital HAVF in neonates. In both cases, antenatal examinations revealed cardiac enlargement and hepatic space-occupying lesions. After birth, both patients rapidly presented with respiratory distress, cyanosis, and heart failure. Echocardiography suggested enlargement of the right heart, widening of the pulmonary artery, and severe pulmonary arterial hypertension, and hepatic examinations revealed HAVF. Results:After admission, the patients were treated with dopamine, milinone, and furosemide for heart failure. However, their conditions worsened, as indicated by nod-like breathing and cyanosis. Endotracheal intubation and ventilator-assisted breathing and a small dose of oral propranolol (1 mg/kg/d) were initiated. The patients' conditions improved, as indicated by decreases in levels of the N-terminal pro-hormone BNP, and the ventilators were removed. The propranolol dose was increased gradually to 2 mg/kg/d. After 2 weeks of propranolol treatment, the neonate in case 2 developed bronchospasm, which improved after propranolol treatment ended and metoprolol treatment was initiated. Liver imaging performed 8-9 months after beta blocker therapy suggested the disappearance of the arteriovenous fistulae in case 2, and close to disappearing of the arteriovenous fistulae in case 1. Conclusion:Propranolol and metoprolol can effectively treat HAVF in infants, an observation consistent with that found in earlier studies that have shown beta blockers are a valid medical treatment option for infantile hemangioma. However, future studies should explore the underlying potential mechanism.