OpenMed/multicare-articles huggingface dataset:
The added value of three-dimensional transthoracic echocardiography in mitral annular disjunction: a case report
Authors: Konstantinos Papadopoulos, Ignatios Ikonomidis, Mani A Vannan
Journal: Front Cardiovasc Med (2024)
Keywords: 3d echocardiography, 4d strain, mad syndrome, arrhythmic mitral valve prolapse, case report
MeSH terms: Case Reports

Background:
Mitral annular disjunction (MAD) refers to the arrhythmic mitral valve prolapse (MVP) syndrome associated with ventricular arrhythmias and sudden cardiac death. Although the pathophysiology of this disease is still under investigation, specific imaging criteria that establish the diagnosis have been recognized. In this article, we demonstrate most of these criteria using three-dimensional transthoracic echocardiography (3D-TTE) and provide added value in the management of MAD syndrome.
Case presentation:
A 50-year-old male patient with recent syncope and a history of mitral regurgitation (MR) and MAD was admitted to our clinic for further investigation. According to our protocol, the patient underwent a complete 3D-TTE, laboratory blood exams, and 24 h ambulatory electrocardiogram (ECG). Our investigation confirmed the presence of MAD syndrome with bileaflet prolapse, severe MR, and non-sustained ventricular tachycardia, necessitating an implantable cardioverter defibrillator (ICD) and surgical mitral valve repair. The 3D-TTE analysis of the mitral valve demonstrated mitral annular systolic expansion and systolic flattening of the saddle-shaped annulus and quantified the extent of the disjunction arc. Additionally, four-dimensional (4D) strain analysis of the left ventricle revealed the presence of fibrosis of the posteromedial papillary muscle and basal inferolateral wall, which are variables that are required for the diagnosis and therapeutic management of MAD syndrome.
Conclusions:
3D-TTE and 4D strain offer valuable insights for diagnosing and managing patients with MAD syndrome. This method seems to correlate well with the other imaging modalities and could be included in the management protocol of MAD syndrome.
Prenatal echocardiography diagnosis of a novel combination of bilateral ductus arteriosus and cardiovascular anomalies: a case report and literature review
Authors: Simin Zhang, Ning Wang, Pengfei Qu, Xiaobin Shu, Yang Mi, Xinru Gao
Journal: Front Cardiovasc Med (2024)
Keywords: bilateral ductus arteriosus, dextro-transposition of the great arteries, echocardiography, fetus, mirror-image branching, right aortic arch, spatiotemporal image correlation
MeSH terms: Case Reports

Background:
Bilateral ductus arteriosus (BDA) is a relatively rare vascular malformation. According to the double arch theory, BDA is formed when the distal ends of the sixth pairs of primitive arches on the left and right sides have not regressed. We describe a fetus with prenatal echocardiographic findings of BDA and right aortic arch mirror-image branching (RAA-MIB) combined with congenital heart disease. Furthermore, to gain a deeper understanding of the embryological mechanism of BDA, we review the literature on all combinations of BDA present in 40 fetuses/infants.
Case summary:
A 22-year-old female patient underwent fetal echocardiography at 23 weeks of gestation. Both the two-dimensional (2D) grayscale image and color Doppler flow imaging (CDFI) revealed dextro-transposition of the great arteries combined with a ventricular septal defect and RAA-MIB. The following scan revealed a rare vascular ring, which was identified as BDA extending from the confluent of the left pulmonary artery and right pulmonary artery, completely encircling the trachea to form an "O"-shaped vascular ring before finally converging into the descending aorta. A persistent left superior vena cava was also observed. We subsequently used four-dimensional (4D) color Doppler imaging with the spatiotemporal image correlation (STIC) HD live flow and STIC HD live flow silhouette mode to clearly display ventricular arterial connectivity and the direction of vessel travel. Adjusting the image quality and display angle is very important when applying STIC. The 4D images confirmed our diagnosis. After multidisciplinary counseling and discussion with her family, this female patient decided to terminate the pregnancy.
Conclusion:
Our review of the literature summarized nine combinations classified into three types of BDA and aortic arch pathology. However, our case differs because it is a novel combination of intracardiac structural abnormalities and vascular rings in a fetus. Prenatal ultrasound diagnosis of BDA is important and requires a combination of 2D grayscale, CDFI, and STIC images to assist in scanning.
A Case of McLeod's Syndrome Presenting with Severe Decompensated Heart Failure
Authors: Hemanth K Boppana, Samarthkumar Thakkar, Harsh P Patel, Rody G Bou Chaaya, Scott Feitell
Journal: Methodist Debakey Cardiovasc J (2023)
Keywords: mcleod’s syndrome, guideline-directed medical therapy, implantable cardioverter defibrillator, late galodinium enhancement
MeSH terms: Defibrillators, Implantable, Heart Failure / etiology, Heart Failure / genetics, Neuroacanthocytosis, Case Reports, Adult, Humans, Male, Mutation, Neuroacanthocytosis, Mcleod Type

McLeod's syndrome (MLS) is an X-linked disorder caused by mutations in the XK gene with neurological manifestations as well as cardiomyopathy. This is a case of acute exacerbation of heart failure in a 44-year-old White male with a confirmed diagnosis of MLS, which was managed with guideline-directed medical therapy and placement of an implantable cardioverter defibrillator with recovery in ejection fraction.
Case Report: Gonio-endoscopy: a novel approach to minimally invasive glaucoma surgery in a glaucomatous eye
Authors: Kenji Matsushita, Rumi Kawashima, Noriaki Kanazawa, Shinichi Usui, Kohji Nishida
Journal: Front Ophthalmol (Lausanne) (2023)
Keywords: glaucoma, cloudy cornea, gonio-endoscopy, microhook ab interno trabeculotomy, minimally invasive glaucoma surgery (migs)
MeSH terms: Case Reports

Background:
The gonio-endoscope is a novel device for use during minimally invasive glaucoma surgery (MIGS) to treat glaucomatous eyes with cloudy cornea. The MIGS procedure requires a surgical gonioprism lens for direct visualization of the angle, intraoperative manipulation of the surgical microscope and the patient's head position, and the patient's eye without a cloudy cornea. In cases with cloudy corneas or limitation of neck movement, MIGS cannot be safely performed. Gonio-endoscopy facilitates clear visualization of the trabecular meshwork (TM) to perform MIGS safely and easily even in a patient with corneal opacities or limitation of neck movement with no additional MIGS procedures. We report the first case in which we performed the newly developed a 10,000-pixel high-resolution 23-gauge gonio-endoscopic operation.
Case presentation:
The patient was a 58-year-old man with Down syndrome who had secondary glaucoma bilaterally after cataract surgery and long-time use of a steroid for atopic dermatitis and allergic conjunctivitis. His left eye had a cloudy cornea after penetrating keratoplasty for keratoconus with severe corneal residual scarring after prior resolved corneal hydrops. When the intraocular pressure (IOP) in his left eye increased to 41 mmHg despite the maximum use of anti-glaucoma eyedrops, he was referred to our hospital. Anterior-segment optical coherence tomography showed an open angle. We developed a new gonio-endoscope (MACHIDA Endoscope Co., Ltd., Chiba, Japan and NIPRO CORPORATION, Osaka, Japan), the probe of which is bent appropriately to aid visualization of and access to the TM. After obtaining clinical approval from the government and our institution, we could safely perform a high-resolution 23-gauge gonio-endoscopy-assisted microhook ab interno trabeculotomy (μLOT). The IOP decreased to 10 mmHg and the visual acuity has been preserved with no major complications for 1 year postoperatively.
Conclusion:
This new technique of clear gonio-visualization using a gonio-endoscope might be helpful for a safe and easy μLOT in patients with cloudy corneas. This device can apply to other types of MIGS procedures and cases with pathological diagnoses of glaucoma that are difficult to treat.
Tumor necrosis factor receptor-associated cycle syndrome: a case report and literature review
Authors: Ziwei Li, Xiaoping Jing, Shuya Zhang, Tiantian Liu, Qingyin Guo
Journal: Front Pediatr (2023)
Keywords: tnf, case report, children, heredity, literature review, periodic fever, syndrome
MeSH terms: Case Reports

Recurring episodes of fever characterize tumor necrosis factor receptor-associated periodic syndrome (TRAPS) which is autosomal dominant. The primary symptoms of patients with TRAPS include prolonged fever, abdominal pain, muscle pain, and skin rashes. The prevalence of TRAPS appeared higher in Western countries than in Asian countries. Herein, we present the case of a 13-year-old girl who experienced intermittent fever for 8 years, with episodes that occur every 2 years. The patient demonstrated periodic fever, headache, vomiting, rash, and elevated inflammatory marker levels during the disease course. A heterozygous C55Y mutation was identified via a direct DNA sequencing of her genomic DNA. This mutation is located in exon 4 of TNFRSF1A. Genetic studies of her sister and mother revealed that they possessed the C55Y heterozygous mutation without demonstrating any clinical signs, while the father did not. Further, we conducted a thorough assessment of the literature and compiled the information from the eight TRAPS case series.
Retinal Pigment Epithelial Tears after Ex-PRESS Filtration Surgery in a Glaucoma Patient with a History of Ischemic Optic Neuropathy
Authors: Mamiko Takemoto, Yuta Kitamura, Masato Kakisu, Daisuke Shimizu, Takayuki Baba
Journal: Case Rep Ophthalmol Med (2023)
MeSH terms: Case Reports

Background:
To describe a case of retinal pigment epithelial tears (RPE tears) and serous retinal detachment (SRD) after Ex-PRESS filtration surgery for primary open-angle glaucoma (POAG) combined with ischemic optic neuropathy. Case Presentation. This case report involved a 69-year-old woman who underwent Ex-PRESS filtration surgery for right POAG. She had a history of systemic arteriosclerotic disease and subacute progressive visual field loss due to suspected ischemic optic neuropathy in her right eye. The right preoperative visual acuity was 0.7, and intraocular pressure (IOP) was 19 mmHg with maximum glaucoma eye drops. RPE detachment was not observed in the fundus. On day 9 after surgery, the IOP was 6 mmHg, and mild choroidal detachment was observed. On day 13, although IOP remained almost unchanged at 7 mmHg, bullous SRD was observed in the inferior retina, including the macula, and RPE tears were observed along the superior arcade vessel. While subretinal fluid gradually decreased with increasing IOP, tractional retinal folds persisted along the superior arcade, accompanied by macular degeneration.
Conclusion:
We experienced a case of RPE tears after Ex-PRESS filtration surgery. In addition to choroidal detachment in the setting of hypotony, a pathologic condition causing structural fragility of the RPE layer may contribute to the development of RPE tears.
TORCH (Toxoplasmosis, Other, Rubella, Cytomegalovirus, Herpes Simplex Virus) Infection and the Enigma of Anomalous Fetal Development: Pregnancy Puzzles
Authors: Nainita Patel, Kamlesh Chaudhari, Dharmesh J Patel, Jalormy S Joshi, Garapati Jyotsna
Journal: Cureus (2024)
Keywords: anomalous fetal development, antenatal care, cmv infection, pregnancy complications, torch infection
MeSH terms: Case Reports

The cytomegalovirus (CMV), a common DNA virus with a high global seroprevalence, is the primary cause of teratogenic congenital infections, which presents a serious risk to public health. Maternal CMV infection is linked to congenital CMV (cCMV), a major contributor to non-genetic sensorineural hearing loss, cognitive developmental impairments, and cerebral palsy in infants. Transmission might occur through direct contact with infected bodily fluids, with higher transmission rates after primary infection and an increased risk of severe fetal effects before 20 weeks. The mother and fetus do not get immunity from a prior infection. Fetal growth restriction, fetal loss, and cerebral or extra-cerebral abnormalities that can be detected by ultrasonography are possible presentations of cCMV. Specific antibody detection or seroconversion is required for the diagnosis of maternal CMV during pregnancy. Amniocentesis is used to diagnose fetal CMV during pregnancy after eight weeks of presumed maternal infection and 17 weeks of gestation. The main preventive measure is hygiene education, as the effectiveness of immunoglobulins, antiviral medications, and vaccines is still up for debate. The focus is particularly directed toward the anomalous fetal outcomes observed during the course of the pregnancy.
Cervical aortic arch in the pediatric population: a meta-analysis of individual patient's data
Authors: Massimo Baudo, Alessandro Varrica, Matteo Reali, Antonio Saracino, Mario Carminati, Alessandro Frigiola, Alessandro Giamberti, Mauro Lo Rito
Journal: Front Cardiovasc Med (2023)
Keywords: cardiac surgery, cervical aortic arch, congenital heart disease, meta-analysis, pediatrics
MeSH terms: Review

Background:
This is the first meta-analysis to analyze all reports of published pediatric cases of cervical aortic arch (CAA) by highlighting the clinical characteristics and treatment outcomes using the reported individual data of the patients. The aim of the study is to investigate the clinical features and surgical outcomes of such a rare disease in the pediatric population.
Methods:
A comprehensive search was conducted in various academic databases, including PubMed, ScienceDirect, SciELO, DOAJ, and Cochrane Library, until June 2022 for case reports describing the presence of cervical aortic arch in the pediatric age. Case reports and series were included if the following criteria were met: (1) description of the cervical aortic arch; (2) patient of pediatric age; and (3) published in the English language. All other types of publications that lacked patient-specific information were excluded from the analysis. This systematic review was conducted in accordance with the PRISMA guidelines. The primary outcome measure of the analysis was early and late mortality.
Results:
The literature search identified 2,272 potentially eligible articles, 72 of which met our inclusion criteria with 96 patients including the author's institutional case. At a median of 365 (90-730) days, the overall cohort registered a 7.3% (7/96) mortality rate. In the subset of patients who underwent surgery, the mortality rate was also 7.3% (4/55), and the mortality rate following surgery to treat only CAA was 2.4% (1/42). Dyspnea was identified as an independent determinant of mortality by employing the univariable Firth bias-reduced logistic regression method.
Conclusion:
Cervical aortic arch is a rare congenital heart disease that poses treatment challenges due to the high anatomical variability, diverse clinical presentations, and the presence of other concomitant diseases. The surgical treatment appears to be a safe and effective approach for resolving the symptoms, although it needs to be tailored individually for each patient.
Systematic review registration:
https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=346826, Identifier: CRD42022346826.
Acute Abdomen as a Clinical Presentation of COVID-19-Associated Multisystem Inflammatory Syndrome in Children
Authors: Elmira Hajiesmaeil Memar, Fatemeh Tahghighi, Sedigheh Yousefzadegan, Parisa Sadeghirad, Ashraf Mousavi, Ramin Zare Mahmoudabadi, Hossein Saeidi, Mehri Ayati, Sahar Naderi, Sara Memarian, Seyedmusa Zeinalabedin, Bahar Ashjaei, Hojatollah Raji, Leila Tahernia, Hosein Alimadadi, Vahid Ziaee
Journal: Case Rep Surg (2024)
MeSH terms: Case Reports

Background:
On December 2019, a novel coronavirus disease (COVID-19) spread worldwide and became a pandemic. Multisystem inflammatory syndrome in children (MIS-C) due to cytokine release syndrome following COVID-19 presents with various manifestations. We hypothesize that one of the rare manifestations is acute abdomen. Case Presentation. In this case series, eight cases (five girls and three boys) of gastrointestinal (GI) involvement and acute abdomen were reported to be associated with the cytokine storm due to COVID-19 infection. All patients were of Iranian nationality (Caucasian ethnicity), with a mean age of 8.9 years (range 3.5-14). They all presented with fever and acute abdominal pain. Additionally, maculopapular rash and edema of the extremities were common presentations. Free fluid on abdominal ultrasound or computerized tomography (CT) scan was observed in all patients. All cases tested positive for COVID-19. In six cases, laparotomy or abdominal surgery was performed for a diagnosis of acute abdomen, but appendicitis was confirmed in only one case. None of the cases presented with phlegmon. Elevated serum lipase and amylase levels were noted in two cases. Seven patients received corticosteroid pulse therapy. Clinical symptoms improved after one or two doses, and all patients were discharged after 4 weeks of follow-up with no mortality or morbidity.
Conclusion:
Patients experiencing unexplained acute abdominal pain along with fever, skin rash, and peripheral edema, who had a history of COVID-19 infection prior to or during the episode of acute abdomen symptoms, should be considered to have MIS-C. Furthermore, methylprednisolone pulse therapy could be a safe treatment option, reducing hospitalization duration in this patient population.
Acquired cystic disease-associated renal cell carcinoma with PTCH1 mutation: a case report
Authors: Luting Zhou, Haimin Xu, Yang Liu, Xiangyun Li, Chuanying Li, Xiaoqun Yang, Chaofu Wang
Journal: Front Oncol (2024)
Keywords: ptch1, vhl, acquired cystic disease-associated renal cell carcinoma, clear cell renal cell carcinoma, next-generation sequencing
MeSH terms: Case Reports

Acquired cystic disease-associated renal cell carcinoma (ACD-RCC) is an extremely rare kidney tumor seen mainly in patients with end-stage renal disease. Currently, there are few reports on this type of tumor. We describe the case of a 58-year-old man who had been receiving peritoneal dialysis for more than nine years due to chronic renal insufficiency and uremia. One year after undergoing left renal clear cell renal cell carcinoma resection, a space-occupying lesion was found in the right kidney for which he underwent right nephrectomy. The histopathology of this tumor showed solid or tubular cell arrangements, with some areas of cyst formation. Vacuoles of varying sizes were present in the cytoplasm, and varying amounts of calcium oxalate crystals were found in the tumor cells or interstitium. The pathological diagnosis was ACD-RCC. Next-generation sequencing detected mutations in the PTCH1, MTOR, FAT1, SOS1, RECQL4, and CDC73 genes in the right renal tumor. This is a rare case of a patient with ACD-RCC in the right kidney and clear cell renal cell carcinoma in the left kidney. The findings suggest that mutations in PTCH1 associated with ACD-RCC may have acted as oncogenic drivers for the development of ACKD-RCC, together with providing insight into mechanisms underlying ACD-RCC development, as well as diagnostic and treatment options.
Diagnosis of pulmonary hemorrhagic leptospirosis complicated by invasive pulmonary aspergillosis complemented by metagenomic next-generation sequencing: a case report
Authors: Qiong-Fang Yang, Cai-Min Shu, Qiao-Ying Ji
Journal: Front Med (Lausanne) (2024)
Keywords: case report, co-infection, metagenomic next-generation sequencing, pulmonary aspergillosis, pulmonary hemorrhagic leptospirosis
MeSH terms: Case Reports

Background:
Leptospirosis is a bacterial zoonosis with variable clinical manifestations. Pulmonary diffuse hemorrhagic leptospirosis often occurs rapidly and, when not promptly diagnosed and treated, it can be life-threatening. Aspergillus flavus is an opportunistic fungus that is commonly seen in immunosuppressed patients. Invasive pulmonary aspergillosis also progresses rapidly. This case study describes a patient with severe pneumonia caused by pulmonary hemorrhagic leptospirosis combined with invasive pulmonary aspergillosis. We have found almost no clinical reports to date on these two diseases occurring in the same patient.
Case presentation:
A 73-year-old male arrived at our hospital complaining of fever, general malaise, and hemoptysis that had lasted 4 days. The patient was initially diagnosed with severe pneumonia in the emergency department, but he did not respond well to empiric antibiotics. Subsequently, the patient's condition worsened and was transferred to the ICU ward after emergency tracheal intubation and invasive ventilator. In the ICU, antibacterial drugs were adjusted to treat bacteria and fungi extensively. Although the inflammatory indices decreased, the patient still had recurrent fever, and a series of etiological tests were negative. Finally, metagenomic next-generation sequencing (mNGS) of bronchial alveolar lavage fluid detected Leptospira interrogans and Aspergillus flavus. After targeted treatment with penicillin G and voriconazole, the patient's condition improved rapidly, and he was eventually transferred out of the ICU and recovered.
Conclusion:
Early recognition and diagnosis of leptospirosis is difficult, especially when a patient is co-infected with other pathogens. The use of mNGS to detect pathogens in bronchial alveolar lavage fluid is conducive to early diagnosis and treatment of the disease, and may significantly improve the prognosis in severe cases.
Abrupt elevation of tumor marker levels in a huge splenic epidermoid cyst, a case report
Authors: Hao Cai, Zhenyu Hei, Guanghua Liu, Feng Zhao, Chunfeng Wang, Wenbin Guan, Gang Ren, Qing Zhou, Yi Dong, Ying Wang, Wei Gong, Litian Chen
Journal: Front Oncol (2024)
Keywords: ca125, ca19-9, cea, laparoscopic splenectomy, splenic epidermoid cyst, tumor markers
MeSH terms: Case Reports

Epidermoid cyst of the spleen is a rare disease, and relatively few cases were reported by literatures. Most published case reports provided inadequate information on the impact of splenic epidermoid cyst on tumor markers. A 32-year-old woman with a giant splenic epidermoid cyst was reported, for whom the serum concentration of a collection of tumor markers (CA19-9, CEA, CA125, CA242, and CA50) increased abruptly accompanied by left upper abdominal pain for 5 days. After comprehensive preoperative examination and multidisciplinary team discussion, we ruled out any concurrent malignancy and a laparoscopic total splenectomy was performed, during which the splenic cyst spontaneously ruptured unexpectedly. After surgery, the elevated serum tumor marker levels decreased sharply until reaching normal range 3 months later. Learning from the case, we conclude that interval monitoring of serum tumor markers is of critical value for patients with splenic epidermoid cyst. Abrupt elevation of tumor marker levels and abdominal pain may serve as signs of cyst rupture, which is strongly indicative of surgical intervention as soon as possible. Total removal of the splenic cyst is strongly suggested considering the recurrence and malignant potential of the splenic epidermoid cyst.