OpenMed/multicare-articles huggingface dataset:
A rare congenital heart disease in an elderly long-distance runner: a case report
Authors: K R Bhamidipati, N C Shah, M C Connaughton
Journal: Case Rep Cardiol (2012)

Introduction. Cor triatriatum is a rare congenital heart disease found incidentally in children. Although cor triatriatum can be an incidental finding in asymptomatic adults; it is extremely rare to find elderly patients without symptoms and is unique in a long distance runner. Case Presentation. We present the case of an 83-year-old long-distance runner with cor triatriatum sinistrum and atrial fibrillation who continues to be asymptomatic and has continued to run long distances, retaining his excellent functional capacity. Conclusion. Cor triatriatum sinistrum is a rare congenital disease, which is often found incidentally in children. Although it is also seen in adults without symptoms at normal exertion, it is rare to have this condition in long-distance runners especially in elderly people with other structural heart disease, that is, atrial fibrillation and mitral regurgitation.
Spontaneous Intramuscular Hemorrhage in Anti-MDA5 Positive Dermatomyositis: A Case Series and Literature Review
Authors: Zhangling Xu, Xia Lv, Wenwen Xu, Yan Ye, Xiaodong Wang, Shuang Ye, Huihua Ding, Wanlong Wu
Journal: Front Med (Lausanne) (2022)
Keywords: anti-mda5 antibody, case series, dermatomyositis, prognosis, spontaneous intramuscular hemorrhage

Objective:
Spontaneous intramuscular hemorrhage (SIH) is a rare but life-threatening complication associated with dermatomyositis (DM). This study reported a case series of SIH associated with DM. In addition, the characteristics and prognostic effects for this complication were analyzed based on literature review.
Methods:
We reported seven cases of anti-melanoma differentiation-associated gene five positive dermatomyositis (MDA5+DM) complicated by SIH in our single-center cohort, and a comprehensive literature review was performed. Clinical characteristics, treatment, and outcome data of all eligible reported cases were summarized. Potential prognostic effects were identified by comparisons between the deceased and survivors.
Results:
Among cumulatively reported patients with DM patients and SIH, the overall mortality was 60.9% (14/23) (including our cases). Fourteen out of nineteen (73.7%) hemorrhagic events occurred within 6 months of disease onset. Anti-MDA5 antibody predominated in those myositis-specific antibodies available cases (8/10), although patients with positive anti-NXP2 and anti-Mi2 have also been documented. Iliopsoas (52.2%, 12/23) was the most frequently involved bleeding location. Bleeding in deep muscles was identified to be associated with poorer prognosis. The mortality of patients with DM and deep muscular hematoma (non-palpable) (80%, 12/15) was significantly higher than that of patients with only superficial muscular hematoma (palpable) (25%, 2/8) (p =0.023).
Conclusion:
Spontaneous hematoma in non-palpable deep muscles probably leads to excess mortality in dermatomyositis, particularly for those with anti-MDA5 antibody, which often occurs within 6 months of disease onset. Clinicians should be vigilant to this rare but potentially fatal complication and carefully balance the risks and benefits of prophylactic anti-thrombotic treatment.
Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?
Authors: Malgorzata I Srebniak, Laura J C M van Zutven, Florence Petit, Sonia Bouquillon, Ilse P J van Heel, Maarten F C M Knapen, Jerome M J Cornette, Andreas Kremer, Diane Van Opstal, Karin E M Diderich
Journal: Mol Cytogenet (2016)
Keywords: 16p112 microduplication, interstitial 6q221q232 duplication, interstitial duplication 6q21q2233, second hit hypothesis, susceptibility locus
MeSH terms: Case Reports

Background:
Chromosome 6q duplication syndrome is a chromosome abnormality associated with characteristic phenotypic features such as intellectual disability (ID), short stature, feeding difficulties, microcephaly, dysmorphic features (prominent forehead, downslanting palpebral fissures, flat nasal bridge, tented upper lip, micrognathia, short webbed neck) and joint contractures. Only a few cases of pure partial 6q trisomy have been published and the severity of the phenotype seems to depend on the breakpoint position. Unfortunately, most of these cases were identified using karyotyping or FISH, so breakpoints at the molecular level and thus gene content are not known.
Cases presentation:
We report the first two families with an interstitial 6q duplication identified by karyotyping where the gene content and breakpoints were characterized with microarray. In family 1, the 6q22.1q23.2 duplication was detected in a female patient with ID. In family 2, the 6q21q22.33 duplication was identified in a male fetus with multiple congenital malformations. In both families, the duplication seems to show phenotypic heterogeneity and in family 1 also incomplete penetrance suggesting the co-existence of an "additional hit" in affected patients. This "additional hit" was identified in the first family to be a microduplication in 16p11.2, a known susceptibility locus (SL) for neurodevelopmental disorders, that co-segregated with an abnormal phenotype in the affected family members.
Conclusions:
Our study shows that interstitial 6q21q23 duplication may represent a private variant that is benign, but may also contribute to developmental disorders of variable expressivity in a "multi-hit" model. Finding the "additional hit" within the family is therefore very important for genetic counseling and assessment of the CNV penetrance within the particular family.
Adult Bilateral Ureteroceles Presenting with Lower Urinary Tract Symptoms and Acute Urinary Retention
Authors: Alexis Rompré-Brodeur, Sero Andonian
Journal: Case Rep Urol (2018)
MeSH terms: Case Reports

Ureterocele is a well-known pathologic entity in the pediatric urology population but remains a diagnostic and treatment challenge in the adult population. Adult ureteroceles remain a diagnostic challenge for the adult urologist. Its prevalence is estimated between 1/500 and 1/4000 patients with a wide variety of clinical presentations. We present the case of a 30-year-old female patient who presented with severe lower urinary tract symptoms (LUTS) and acute urinary retention secondary to prolapsing bilateral single-system orthotopic ureteroceles. She was successfully treated with transurethral unroofing of her bilateral ureteroceles and she is currently asymptomatic. This case represents the first reported case of bilateral ureteroceles presenting with severe LUTS and subsequent urinary retention from the prolapse of one of the ureteroceles. We provide a review of the most recent case series of adult ureteroceles and their outcomes. Transurethral unroofing of the ureterocele is a safe and minimally invasive approach for this disease.
Multimodal imaging of a sporadic retinal astrocytic hamartoma simulating retinoblastoma in a newborn
Authors: Bilge Batu Oto, Aslihan Yilmaz Çebi, Oguzhan Kiliçarslan, Ahmet Murat Sarici
Journal: GMS Ophthalmol Cases (2022)
Keywords: neoplasms, optical coherence tomography, retinal astrocytic hamartoma, retinal tumors, retinoblastoma
MeSH terms: Case Reports

Introduction:
To report a sporadic astrocytic hamartoma simulating retinoblastoma in a newborn.
Methods:
Clinical data was reviewed retrospectively.
Results:
A 3-month-old baby with a history of perinatal asphyxia was referred to our ocular oncology clinic with suspected retinoblastoma in the left eye. Dilated fundoscopy revealed a solitary tumor covering the optic disc at the left eye. The whitish-yellow lesion was well-defined, opaque, and minimally calcified. High internal reflectivity and posterior shadowing due to the intralesional calcification, and intratumoral cystic spaces were observed in B-scan ultrasound imaging. Optical coherence tomography imaging showed an intraretinal tumor with cystic spaces and posterior shadowing. The tumor was diagnosed as an astrocytic hamartoma. The systemic evaluation was negative for phacomatoses. The lesion has been observed with multimodal imaging for six years without significant changes.
Conclusions:
Retinal astrocytic hamartomas are benign tumors that arise within the retinal nerve fiber layer. Differential diagnosis constitutes high importance since they may be misdiagnosed as retinoblastoma, and therefore may be overtreated. Whereas retinoblastoma requires immediate treatment, retinal astrocytic hamartomas are commonly followed-up. Multimodal imaging with B-scan ultrasonography and optical coherence tomography are useful in distinguishing those two entities.
Flow Simulation in the Upper Respiratory Tract of Two Obstructive Sleep Apnea Patients with Successful and Failed Surgery
Authors: Jiacun Shao, Weiwei Yan, Yang Liu, Mingzhen Lu
Journal: Comput Math Methods Med (2021)
MeSH terms: Sleep Apnea, Obstructive / physiopathology, Sleep Apnea, Obstructive / surgery, Case Reports, Adult, Biomechanical Phenomena, Computational Biology, Computer Simulation, Fourier Analysis, Humans, Imaging, Three-Dimensional, Male, Middle Aged, Models, Biological, Pulmonary Ventilation / physiology, Respiratory Mechanics / physiology, Respiratory System / physiopathology, Stress, Mechanical, Treatment Failure

Obstructive sleep apnea (OSA) is a common disorder which may need to be treated by the upper respiratory tract (URT) surgery. To increase the success rate of the URT surgery, it is crucial to understand the flow features in the URT models. In this work, the turbulent flow characteristics in four 3D anatomically accurate URT models reconstructed from two OSA subjects with successful and failed surgery are numerically studied by the large-eddy simulation (LES) and unsteady Reynolds-averaged Navier-Stokes (RANS). The features of velocity fields, pressure fields, and wall shear stress fields as well as the spectral analysis of wall shear stress between successful and failed surgery are explored. The results indicate that LES is capable of capturing flow patterns and flow oscillation and is effective for OSA surgery prediction. Even if the unsteady RANS can obtain the correct pressure drop across the airways, it may not be appropriate to be used for surgery prediction. Moreover, it is found that the quality of oscillating signal of wall shear stress is a key factor in surgery prediction. In a successful surgery, the wall shear stress oscillation is always strong, and the oscillating signal can perform a dominant frequency near 3~5 Hz, while in a failed surgery it does not show this clear intrinsic property. The results not only will gain new insights in the URT surgical planning but also will improve the prediction of surgical outcome for OSA patients.
Vesicouterine Fistula (VUF) as a Rare Urogenital Complication Managed with Delayed Surgical Repair: A Case Report and Review of the Literature
Authors: Evangelos N Symeonidis, Elias Sdralis, Asterios Symeonidis, Christos Georgiadis, Vasileios Kalyvas, Apostolos Malioris, Michail Papathanasiou
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Vesicouterine fistula (VUF) represents a rare urogenital complication. It is considered to be the least common type of urogenital fistulas. Iatrogenic reasons have been shown to be the most prominent cause, with lower segment caesarean section accounting for approximately two-thirds of the cases. The highest incidence concerns young females of reproductive age. VUF can present with clinical symptoms varying from cyclic hematuria, amenorrhea, and vaginal leakage of urine to secondary infertility and first-trimester abortion. Quality of life (QoL) for patients having this pathology is strongly affected due to the psychological burden. Surgical excision of the fistula remains the mainstay of treatment, as less than 5% of patients respond to conservative therapy. Recently laparoscopic and robotic-assisted VUF repair started gaining ground with comparable results to open surgery. Herein, we presented the successful delayed surgical repair of VUF in a 32-year-old female patient. A review of the published literature was also performed, summarizing all the available evidence regarding this rare clinical entity.
Giant aneurysm of the atrial septum associated with premature closure of foramen ovale
Authors: Constantinos Chrysostomou, Rita L Romaguera, Maria M Rodriguez
Journal: Cardiovasc Ultrasound (2005)
MeSH terms: Heart Aneurysm / diagnostic imaging, Heart Aneurysm / etiology, Heart Failure / diagnostic imaging, Heart Failure / etiology, Heart Septal Defects, Atrial / complications, Heart Septal Defects, Atrial / diagnostic imaging, Case Reports, Humans, Infant, Newborn, Male, Ultrasonography

Premature closure or restriction of foramen ovale (PCFO) is a rare congenital anomaly that can lead to a wide spectrum of cardiac malformations. This spectrum of secondary malformations appears to depend on the gestational timing of closure of the foramen ovale and to the degree of restriction. Earlier in the gestation, closure of the foramen has been associated with severe hypoplasia of the left ventricle whereas later closure has been associated with right heart failure and rarely with the formation of an aneurysm of the atrial septum. We describe the case of a 1 day old infant in whom PCFO resulted in severe right heart failure in addition to the formation of a giant atrial septal aneurysm.
Coil Embolization of Coronary-Cameral Fistula Complicating Revascularization of Chronic Total Occlusion
Authors: Amy Mertens, Pratik Dalal, Michael Ashbrook, Ivan Hanson
Journal: Case Rep Cardiol (2018)
MeSH terms: Case Reports

Traumatic vessel perforation is a potential complication of chronic total occlusion (CTO) percutaneous coronary artery intervention (PCI). A rare consequence of this complication is a coronary-cameral fistula. The management of this condition is not well elucidated. Herein, we present such a case of symptomatic left anterior descending to the right ventricle (LAD-RV) fistula which was treated with coil embolization.
Percutaneous Coronary Intervention in an 8-Month-Old Infant for Ostial Stenosis of a Reimplanted Left Main Coronary Artery
Authors: Amanda Cai, Courtney Kramer, Rani Bandisode, Valerian L Fernandes
Journal: Case Rep Cardiol (2018)
MeSH terms: Case Reports

Percutaneous coronary intervention (PCI) is a routine procedure undertaken in adult patients. In children, the procedure remains rare and challenging due to a multitude of factors including but not limited to complex congenital heart disease anatomy, catheter and stent to patient size mismatch, and lack of data for post-PCI antiplatelet therapy. We present a case of PCI in an 8-month-old infant with anomalous left coronary artery from pulmonary artery (ALCAPA) who developed severe ostial kinking of the left main coronary artery (LMCA) after surgical reimplantation of the anomalous coronary. A 3.5 × 8 mm Vision bare metal stent was successfully placed into the LMCA and postdilated with excellent results. Follow-up echocardiography at 6 months post-PCI demonstrated a patent stent with normal Doppler flow signals. Despite initial success, the infant developed severe heart failure and was listed for orthotopic heart transplantation at age 20 months, one year after PCI. Given the paucity of published data regarding PCI and outcomes in infants with ALCAPA after surgical reimplantation, we describe our case and present a review of the available literature.
Fetal Deaths in SARS-CoV-2-Infected Pregnant Women: A Portuguese Case Series
Authors: Ana Rita Mira, João Pedro Pereira, Catrine Dahlstedt-Ferreira, Margarida Enes, Hélder Oliveira Coelho, Ana Beatriz Godinho
Journal: Case Rep Obstet Gynecol (2022)
MeSH terms: Case Reports

Introduction:
Stillbirth has been documented as an outcome of SARS-CoV-2 infection in pregnancy. Placental hypoperfusion and inflammation secondary to maternal immune response seem to play a role in the cascade of events that contribute to fetal death. The aim of our study is to report a perinatal outcome of SARS-CoV-2 infection in pregnancy adding information to the pool of data on COVID-19 pregnancy outcomes. Case Presentation. This is the first stillbirth case series occurring in pregnant women infected with SARS-CoV-2 in a Portuguese cohort. Between April 2020 and March 2021, we had 2680 births in our centre, of which 130 (4.95%) involved mothers infected with SARS-CoV-2. Of total births, there were 14 stillbirths (0.52%), accounting for the highest stillbirth rate we have had in the last 5 years. Among these 14 stillbirths, 5 (35.71%) occurred in SARS-CoV-2-infected mothers. We report the clinical features and placental histopathologic findings of 4 stillbirth cases that occurred in our hospital. Discussion. The stillbirth rate among SARS-CoV-2-infected pregnant women (5/130; 3.84%) was significantly increased compared to noninfected patients (9/2550; 0.35%). Most women (3/4) were asymptomatic for COVID-19, a surprising outcome, given the current literature. All cases had histologic exams showing placental signs of vascular malperfusion, although we acknowledge that 3/5 had obstetric conditions related to placental vascular impairment such as preeclampsia and HELLP syndrome.
Conclusion:
Stillbirth can be a perinatal consequence of SARS-CoV-2 infection in pregnancy, even in asymptomatic patients. We urge more studies to explore the association between SARS-CoV-2 infection and the risk of stillbirth.
Uncommon mimics of appendicitis: giant mucocele
Authors: Zahid Fatima Ezzahra, Karim Ibn Majdoub, Anoune Hicham, Abdelmalk Ousadden, Khalid Mazaz, Khalid Ait Taleb
Journal: Pan Afr Med J (2010)
Keywords: abdominal pain, morocco, appendicitis, complication, malignancy, mucocele
MeSH terms: Appendicitis / pathology, Mucocele / pathology, Case Reports, Abdominal Pain / etiology, Appendectomy, Appendicitis / complications, Appendicitis / surgery, Diagnosis, Differential, Female, Humans, Middle Aged, Mucocele / surgery, Treatment Outcome

Appendiceal mucocele is an infrequent but well recognized entity that can present with a variety of clinical syndromes or can be asymptomatic and discovered incidentally. A 55 years old patient was admitted in the emergency department for acute right lower quadrant pain. A diagnosis of appendicitis was made. At operation an appendiceal mucocele was found. An appendectomy was performed. The diagnosis of appendiceal mucocele is an important one in that it can be associated with malignancies and other serious gastrointestinal, ovarian, and urological complications.
Case Report: Large Granular Lymphocyte Leukemia (LGLL)-A Case Series of Challenging Presentations
Authors: Natali Pflug, Annika Littauer, David Beverungen, Aleksandra Sretenovic, Linus Wahnschaffe, Till Braun, Annika Dechow, Dennis Jungherz, Moritz Otte, Astrid Monecke, Enrica Bach, Georg-Nikolaus Franke, Sebastian Schwind, Madlen Jentzsch, Uwe Platzbecker, Marco Herling, Vladan Vucinic
Journal: Front Oncol (2022)
Keywords: clpd-nk, lgl leukemia, nk, stat-3, tcr, immunosuppression
MeSH terms: Case Reports

Large granular lymphocyte leukemia (LGLL) represents a rare group of diseases with considerable difficulties in their correct diagnostic workup and therapy. The major challenges lie in their distinction from reactive (including autoimmune) lymphoproliferations. Moreover, monoclonal LGL proliferative diseases are in fact a heterogeneous group of disorders, as recognized by the three subtypes in the current WHO classification. It distinguishes two chronic forms (the focus of this case series), namely T-LGLL and chronic lymphoproliferative disorders of Natural Killer cells (CLPD-NK) as well as aggressive NK-cell leukemia. In the clinical routine, the variable presentations and phenotypes of T-LGLL and CLPD-NK are underappreciated. The relevant differential diagnoses range from benign reactive T-cell expansions to other mature T-cell leukemias to highly aggressive γδ-lymphomas. T-LGLL or CLPD-NK patients suffer from a wide variety of symptoms often including, but not limited to, cytopenias or classical autoimmune phenomena. They receive treatments ranging from mere supportive measures (e.g. antibiotics, growth factors, transfusions) over strategies of immunosuppression up to anti-leukemic therapies. The diagnostic pitfalls range from recognition of the subtle T-cell proliferation, repeated establishment of monoclonality, assignment to a descript immunophenotypic pattern, and interpretations of molecular aberrancies. Here, we report a series of selected cases to represent the spectrum of LGLL. The purpose is to raise awareness among the scientifically or practically interested readers of the wide variety of clinical, immunological, and phenotypic features of the various forms of LGLL, e.g. of T-cell type, including its γδ forms or those of NK-lineage. We highlight the characteristics and courses of four unique cases from two academic centers, including those from a prospective nationwide LGLL registry. Each case of this instructive catalogue serves to transport a key message from the areas of (chronic inflammatory) contexts in which LGLL can arise as well as from the fields of differential diagnostics and of various treatment options. Implications for optimization in these areas are discussed.
Er,Cr:YSGG Laser Therapy for Drug-Induced Gingival Overgrowth: A Report of Two Case Series
Authors: Yumei Liu, Qian Peng, Binjie Liu, Zhibin Wang, Qiong Cao
Journal: Front Surg (2022)
Keywords: aesthetics, drug-induced gingival overgrowth (digo), laser therapy, oral health, surgery
MeSH terms: Case Reports

Background:
Drug-induced gingival overgrowth is common but neglected in patients with systemic disease medications until it seriously affects the quality of life.
Methods:
Initial periodontal treatment, combined with water laser surgery, was performed sequentially in two cases.
Results:
The therapeutic effect was good, and there was no recurrence along with good oral hygiene.
Conclusion:
Water laser equipment surgery, as well as initial periodontal treatment, required that surgeons are trained specifically. A tool was devised for various oral diseases, and it was safer, more efficient and more comfortable than others.