OpenMed/multicare-articles huggingface dataset:
Case Report: Prenatal Diagnosis for a Rett Syndrome Family Caused by a Novel MECP2 Deletion With Heteroduplexes of PCR Product
Authors: Honghong Zhang, Yixi Sun, Yuxia Zhu, Jiali Hong, Miaomiao Zheng
Journal: Front Pediatr (2021)
Keywords: mecp2, rett syndrome, heteroduplexes, mosaicism, prenatal diagnosis
MeSH terms: Case Reports

Rett syndrome is an X-linked dominant, postnatal neurological disorder. Approximately 80-90% of classic Rett syndrome patients harbor mutations in the coding region of MECP2. Somatic or germline MECP2 mosaicism is not rare, and paternal germline MECP2 mosaicism occurs in especially high proportions. Here, we report the case of a Chinese girl with Rett syndrome in whom a heterozygous deletion was found in exon 4 of MECP2 using multiplex ligation-dependent probe amplification. To obtain an accurate region of deletion, we narrowed down the deletion region using real-time quantitative PCR, and subsequent long-range PCR was performed to detect the deletion breakpoints. Surprisingly, three DNA bands from long-range PCR products were observed after gel electrophoresis. To exclude somatic mosaicism, we performed T-A cloning and DNA sequencing, the middle DNA band was proved to be a heteroduplex of the PCR product in vitro. Meanwhile, a prenatal diagnosis was performed for the pregnant mother of the patient. Our study showed that the patient was heterozygous for the deletion of 713-base pairs in exon 4 of MECP2 (MECP2: c.441_1153del713), resulting in a frameshift and premature termination of the 487 amino acid protein at the 154th codon. In summary, we reported a novel heterozygous deletion in the MECP2 gene with heteroduplexes of the PCR product in vitro, which can help in the genetic counseling and prenatal diagnosis of disorders of MECP2 defects.
Atrioventricular Conduction Disorders as a Complication of Inferior ST-Elevation Myocardial Infarction in Patients with COVID-19 Infection
Authors: Yaser Alahmad, Hassan Al-Tamimi, Fadi Khazaal, Mawahib Elhassan, Abdulrahman Arabi, Jassim Al Suwaidi, Awad AlQahtani, Nidal Asaad
Journal: Case Rep Cardiol (2022)
MeSH terms: Case Reports

This case series demonstrates how COVID-19 infection might affect the heart in the context of acute myocardial infarction. Atrioventricular (AV) block might appear as one of the significant cardiac complications of acute MI in patients who tested COVID-19 PCR positive regardless of the presence of CVOID-19 infection symptoms. In our series, conduction disorders as a complication of acute inferior STEMI are more common in patients who tested positive for the COVID-19 infection. 11 patients out of 18 inferior STEMI patients who have tested positive for the COVID-19 infection have atrioventricular block disorders.
PD-1 Inhibitor Therapy in a Patient with Preexisting P-ANCA Vasculitis: A Case Report and Review of the Literature
Authors: Amanda Ramos, Marcela Del Carmen, Oladapo Yeku
Journal: Case Rep Oncol Med (2020)
MeSH terms: Case Reports

Background:
Recurrent endometrial cancer after definitive therapy is a lethal disease. Recently, immune checkpoint inhibitors (ICI) have improved the management of mismatch repair-deficient (MSI-H) endometrial cancer. Autoimmune side effects are known to occur with ICI. As a result, patients with preexisting autoimmune diseases are excluded from studies involving these drugs. This has led to challenges in clinical practice regarding the use of ICI in otherwise eligible patients with underlying autoimmune disease. Case Presentation. We present the case of an 81-year-old woman with an underlying autoimmune vasculitis and recurrent, metastatic endometrial adenocarcinoma with microsatellite instability, who was treated with an immune checkpoint inhibitor. This patient received pembrolizumab, an immune checkpoint inhibitor that targets the programmed cell death-1 immune checkpoint. Ultimately, she was treated for 4 months with pembrolizumab and benefited from stable disease during this period. She remained asymptomatic from her underlying autoimmune P-ANCA vasculitis. A review of the scientific literature reveals several cases of the successful use of immune checkpoint inhibitors in patients with autoimmune diseases, including systemic lupus erythematosus, rheumatoid arthritis, and inflammatory bowel disease.
Conclusion:
This is one of the first reports of a patient with an underlying autoimmune vasculitis successfully treated with an immune checkpoint inhibitor without exacerbating her underlying autoimmune condition. Carefully selected patients with underlying autoimmune vasculitis can be safely treated with ICI.
Minimally invasive management of a giant paratubal cyst in an adolescent female: Case report and review of the literature in the pediatric population
Authors: Paola Romeo, Giada Loria, Canio Martinelli, Alfredo Ercoli, Carmelo Romeo
Journal: Front Pediatr (2022)
Keywords: case report, giant paratubal cyst, laparoscopy, minimally invasive surgery, paraovarian cyst
MeSH terms: Case Reports

Introduction:
Paraovarian or paratubal cysts both define cysts located between the ovary and the fallopian tube. They are usually benign and frequently occur in the third and fourth decade of life. Paratubal cysts are defined as giant when they exceed the threshold of 150 mm.
Methods:
We report the case of a 15-year-old girl who complained about diffuse abdominal pain since 2 years that was diagnosed with a 196 mm × 90 mm × 267 mm giant paratubal cyst. We furthermore reviewed all the data published on 13 articles, published between 2006 and 2021, concerning giant paraovarian cyst (POC) in pediatric patients.
Results:
The giant mass of our 15-year-old patient was removed through a fertility-sparing laparoscopic surgery. Histopathological diagnosis of cystadenofibroma was made up, with no cytologic report of neoplastic cells. The incidence of POC in the pediatric and adolescent population attests around 4%. However, only 12.96% of them are defined giant (larger than 15 cm). Indeed, to the best of our knowledge, only 13 cases of giant paratubal cysts have been reported in adolescents. To accomplish diagnosis and differential diagnosis, accurate history and physical examination are mandatory. In all cases reported in the literature, further instrumental analyses were performed, including ultrasound, CT, and/or MRI scan. International Ovarian Tumor Analysis (IOTA) rules have not yet been validated in the pediatric population. Because of the advantages of the laparoscopic procedures, it is often preferred in pediatric population, also to help preserve as much ovarian parenchyma and salpinx if thought possible. The incidence of malignant adnexal masses in the pediatric population is reported to range from 4% to 9%, accounting for 1% of all pediatric cancers.
Conclusion:
Giant paratubal cysts in adolescent females are extremely rare and usually benign. A fertility-sparing laparoscopic surgery should be the preferable option whenever possible. Considering the rarity of these conditions, further investigations are needed to exclude the possibility of a malignant evolution.
Therapeutical attitudes in tooth supported overdentures with ball attachements. Case report
Authors: A M Țâncu, M Melescanu Imre, C T Preoteasa, E Preoteasa
Journal: J Med Life (2014)
Keywords: insufficient clinical examination, natural teeth, overdenture
MeSH terms: Dental Prosthesis, Implant-Supported, Denture, Overlay, Health Knowledge, Attitudes, Practice, Case Reports, Female, Humans, Mandible / pathology, Middle Aged, Patient Satisfaction

Tooth supported overdenture with ball attachments has a number of advantages in prosthetics, but presents some difficulties as well, which sometimes make impossible the use of these anchoring systems; these difficulties should be well known. In this regard we present a suggestive case. It is the case of a patient, aged 57, who came for treatment, suffering from subtotal maxillary and mandibular edentulism (present 11 and 21, respectively 33 and 43), previously having an overdenture prosthesis on natural teeth, with special systems - ball attachment type, dissatisfied with the treatment (due to repeated fractures and functional intolerance to dentures). Clinical examination revealed an increase of the vertical dimension of occlusion and reduced prosthetic space at a correct, functional DVO value, aspects that were explaining the patient's reported complaints. As a therapeutic approach, having into consideration the balance conditions that were favorable for complete dentures and the large ball attachments volume, which did not allow keeping them at a functional DVO at any of the jaws, and the relatively young age of the patient, it was decided to remove the ball attachments and to keep the teeth for a simple overdenture, both to the maxillar and the mandible, over coronary reduced teeth, enough to allow the denture thickness at a functional DVO. Good end result of prosthetics, with stable, functional dentures, which were well tolerated and offered satisfaction to the patient, have led to an increased quality of life.
Ovarian torsion in a 5-year old: a case report and review
Authors: Matthew F Ryan, Bobby K Desai
Journal: Case Rep Emerg Med (2012)
MeSH terms: Case Reports

Ovarian torsion represents a true surgical emergency. Prompt diagnosis is essential to ovarian salvage, and high clinical suspicion is important in this regard. Confounding the diagnosis in general are more commonly encountered abdominal complaints in the Emergency Department (ED) such as constipation, diarrhea, and urinary tract infections and more common surgical emergencies such as appendicitis. Prompt diagnosis can be further complicated in low-risk populations such as young children. Herein, we describe the case of a 5-year-old girl with a seemingly benign presentation of abdominal pain who was diagnosed in the ED and treated for acute ovarian torsion after two prior clinic visits. A brief discussion of evaluation, treatment, and management of ovarian torsion follows.
Severe Sydenham's chorea (chorea paralytica) successfully treated with plasmapheresis
Authors: Marcelo Miranda, Ruth H Walker, David Saez, Victoria Renner
Journal: J Clin Mov Disord (2015)
Keywords: chorea paralytica, plasmapheresis, sydenham’s chorea
MeSH terms: Case Reports

Sydenham's chorea is often regarded as a relatively benign and self-limiting condition. Treatment is typically symptomatic, although occasionally immunomodulatory therapies are required in severe forms. Here we report a girl who was affected with the severe variant, chorea paralytica, who responded dramatically and rapidly to plasmapheresis, having failed other therapies.
Harlequin Syndrome after Thoracoscopic Repair of a Child with Tracheoesophageal Fistula (TEF)
Authors: Richard Wagner, Martin Lacher, Andreas Merkenschlager, Moritz Markel
Journal: European J Pediatr Surg Rep (2019)
Keywords: harlequin syndrome, esophageal atresia, neurocristopathy, thoracoscopic repair
MeSH terms: Case Reports

Harlequin syndrome (HS) is a rare dysautonomia of the sympathetic nervous system leading to asymmetric facial flushing and sweating. In the literature, only a few cases of HS after thoracoscopic tracheoesophageal fistula (TEF) repair are reported. We report on a newborn with TEF who developed HS after thoracoscopic repair. On the first day of life, the girl (3,480 g, gestation age: 41 week) underwent thoracoscopic repair of a type C esophageal atresia (TEF; OR time 105 minute) without complications. The postoperative course was uneventful, the patient swallowed and thrived well and did not require esophageal dilatations. At 2 years of age, missing facial flushing, transpiration, and warming on the right side of her face during agitation were noticed. As no further intervention was required, the girl and her parents adapted well to the symptoms. Our report shows that the late onset of HS after the surgical procedure is unlikely a direct causal relation to the thoracoscopic operation but rather a shared embryological pathogenesis, like a neurocristopathy.
Case Report: Anti-TNF Treatment Failure in a Patient With Immune Checkpoint Inhibitor-Induced Severe Colitis
Authors: Leilei Fang, Changqin Liu, Xiaomin Sun, Zhanju Liu
Journal: Front Oncol (2022)
Keywords: anti-tumor necrosis factor-α, colitis, durvalumab, immune checkpoint inhibitor, programmed cell death ligand 1, vedolizumab
MeSH terms: Case Reports

Immune checkpoint inhibitor (ICI)-induced colitis is one of the known complications of therapies targeting cytotoxic programmed cell death protein 1 (PD-1), cytotoxic T lymphocyte-associated antigen 4 (CTLA-4), and programmed cell death ligand 1 (PD-L1). ICI-associated colitis is routinely treated with immunosuppressive therapy, including corticosteroids and/or agents targeting tumor necrosis factor-α (TNF-α). In this report, a 69-year-old male patient developed severe ICI-induced colitis 2 weeks after anti-PD-L1 mAb (i.e., durvalumab) treatment; unexpectedly failed to respond to systemic corticosteroid, anti-TNF, and anti-integrin agents; and unfortunately died in 1 month. This case reminds clinical physicians to be on the alert for early-onset acute ICI-induced colitis and emphasizes that urgent optimized rescue measures are required for patients with severe ICI-induced colitis.
Unilateral Vocal Cord Paralysis following Insertion of a Supreme Laryngeal Mask in a Patient with Sjögren's Syndrome
Authors: T O J Masarwa, I H F Herold, M Tabor, R A Bouwman
Journal: Case Rep Anesthesiol (2016)

Since its introduction in 1988 by Dr. Archie Brain, the laryngeal mask airway (LMA) is being used with increasing frequency. Its ease of use has made it a very popular device in airway management and compared to endotracheal intubation it is less invasive. The use of LMA was on the rise, so has been the incidence of its related complications. We report severe unilateral vocal cord paralysis following the use of the supreme laryngeal mask (sLMA) in a patient with Sjögren's syndrome. In addition, we propose possible mechanisms of injury, review the existing case reports, and discuss our findings.
Reemerging leptospirosis, California
Authors: Elissa Meites, Michele T Jay, Stanley Deresinski, Wun-Ju Shieh, Sherif R Zaki, Lucy Tompkins, D Scott Smith
Journal: Emerg Infect Dis (2004)
MeSH terms: Communicable Diseases, Emerging / epidemiology, Leptospirosis / epidemiology, Case Reports, Adolescent, Adult, California / epidemiology, Child, Communicable Diseases, Emerging / diagnosis, Communicable Diseases, Emerging / physiopathology, Female, Humans, Leptospirosis / diagnosis, Leptospirosis / physiopathology, Male, Middle Aged, Water Microbiology

Leptospirosis is a reemerging infectious disease in California. Leptospirosis is the most widespread zoonosis throughout the world, though it is infrequently diagnosed in the continental United States. From 1982 to 2001, most reported California cases occurred in previously healthy young adult white men after recreational exposures to contaminated freshwater. We report five recent cases of human leptospirosis acquired in California, including the first documented common-source outbreak of human leptospirosis acquired in this state, and describe the subsequent environmental investigation. Salient features in the California cases include high fever with uniform renal impairment and mild hepatitis. Because leptospirosis can progress rapidly if untreated, this reemerging infection deserves consideration in febrile patients with a history of recreational freshwater exposure, even in states with a low reported incidence of infection.
Posterior shoulder dislocation with reverse Hill-Sachs lesion. A technical note and report of two cases
Authors: Konstantinos Kazamias, Vasiliki Bisbinas, George Markopoulos, Stavros Pellios, Ilias Bisbinas
Journal: SICOT J (2021)
Keywords: posterior shoulder dislocation, reverse hill-sachs, surgery
MeSH terms: Case Reports

Posterior shoulder dislocation (PSD) with a reverse Hill-Sachs lesion is a rare injury with challenging management. This article is a technical note, describing the combination of both, modified McLaughlin procedure with posterior Bankart repair, for the surgical treatment of traumatic PSD associated with a substantial reverse Hill-Sachs lesion. Two patients with mid-term follow-up are presented. Approaching and repairing both sides of the joint, balance and congruency are restored, the humeral head is centralized in the glenoid and the patient starts early mobilization and rehabilitation safely.
Localization of Pyelonephritis by 68Ga-FAPI PET CT
Authors: Rajlaxmi Rangrao Jagtap, Shailendra Vasant Savale, Gauri Shridhar Khajindar, Shrikant Vasantrao Solav
Journal: Asia Ocean J Nucl Med Biol (2023)
Keywords: 99mtc-dmsa, 68ga-fapi, pyelonephritis
MeSH terms: Case Reports

Fibroblast activation protein inhibitor (FAPI) is a quinoline-based membrane-bound glycoprotein enzyme that is not usually expressed in normal adult tissues, except for the myometrium and sometimes the pancreas. Its expression increases in inflammation and cancer-associated fibroblasts (CAF). As FAPI is a new molecule with a promising future, presented here is a case report of uncontrolled diabetes with abdominal pain that showed features of inflammation in the kidneys. The patient had been previously diagnosed with maxillary sinusitis with Aspergillus niger and was receiving antibiotic treatment. The urine culture performed later was negative, and the patient was referred for 18F-fluorodeoxyglucose (18F-FDG) PET Computed Tomography (CT) to look for the focus of infection. However, as blood sugar was 500 mg/dL, 18F-FDG PET CT could not be performed. Therefore, 68Ga-FAPI PET CT was run instead after taking the patient's written informed consent. The 99mTc-dimercaptosuccinic acid scan performed on another day confirmed the presence of pyelonephritis bilaterally. In situations where FDG cannot be used because of hyperglycemia, 68Ga-FAPI PET CT scan may be considered an alternative in the detection of occult infection or inflammation, as demonstrated in this case report.
Isolated splenic metastasis from primary fallopian tube carcinoma and the application of laparoscopic splenectomy: a case report and literature review
Authors: Dongxue Kang, Danyang Zhao, Xiaodi Jiang, Deming Li
Journal: Front Oncol (2023)
Keywords: bilateral salpingo-oophorectomy, laparoscopic splenectomy, primary fallopian tube carcinoma, splenic metastasis, total hysterectomy
MeSH terms: Case Reports

Metastases to the spleen from various non-hematologic malignancies are generally not a common clinical event and usually indicate the late dissemination of disease. Solitary splenic metastases from solid neoplasm are extremely uncommon. Furthermore, solitary metastasis to the spleen from primary fallopian tube carcinoma (PFTC) is extremely rare and has not been reported previously. We report a case of isolated splenic metastasis in a 60-year-old woman, occurring 13 months after a total hysterectomy, a bilateral salpingo-oophorectomy, a pelvic lymphadenectomy, a para-aortic lymphadenectomy, an omentectomy, and an appendectomy were performed for PFTC. The patient's serum tumor marker CA125 was elevated to 49.25 U/ml (N < 35.0 U/ml). An abdominal computed tomography (CT) scan revealed a 4.0 × 3.0 cm low-density lesion in the spleen that was potentially malignant, with no lymphadenectasis or distant metastasis. The patient underwent a laparoscopic exploration, and one lesion was found in the spleen. Then, a laparoscopic splenectomy (LS) confirmed a splenic metastasis from PFTC. The histopathological diagnosis showed that the splenic lesion was a high-differentiated serous carcinoma from PFTC metastasis. The patient recovered for over 1 year, with no tumor recurrence. This is the first reported case of an isolated splenic metastasis from PFTC. This case underlines the importance of serum tumor marker assessment, medical imaging examination, and history of malignancy during follow-up, and LS seems to be the optimal approach for isolated splenic metastasis from PFTC.
Interstitial Pregnancy in the Third Trimester with Severe Preeclampsia: A Case Report and Literature Review
Authors: Shiho Nagayama, Hironori Takahashi, Shohei Tozawa, Risa Narumi, Rie Usui, Akihide Ohkuchi, Shigeki Matsubara
Journal: Case Rep Obstet Gynecol (2020)
MeSH terms: Case Reports

An interstitial pregnancy that continues beyond the second trimester is a rare phenomenon. We report a patient with an interstitial pregnancy undiagnosed until the third trimester. A multiparous woman was referred to us because of preeclampsia at 26 weeks of gestation. The placental position was the right fundus, and color Doppler ultrasound revealed myometrial thinning and subplacental hypervascularity, leading to a suspicion of placenta accreta spectrum (PAS). Emergency cesarean section was performed at 281/7 weeks of gestation due to severe preeclampsia. The right tubal horn to the isthmus of the fallopian tube bulged with placental adhesion and a part of the tube had ruptured, with the omentum adhering to the ruptured part. Interstitial and tubal isthmic pregnancy with uterine rupture was diagnosed.
Presence of an Isolated Hydatid Cyst in the Left Kidney: Report of a Case of This Rare Condition Managed Surgically
Authors: Daniel Paramythiotis, Petros Bangeas, Konstantinia Kofina, Vassileios Papadopoulos, Antonios Michalopoulos
Journal: Case Rep Urol (2016)

Introduction. Hydatid cyst disease caused by Echinococcus granulosus is rarely presented in the kidneys, whereas isolated renal occurrence is estimated to be about as low as 2-4% of all cases. We present a case of a female patient suffering from this condition that was treated successfully in our department. Case Presentation. A 44-year-old woman was incidentally diagnosed with a 14 cm left renal cystic mass through ultrasound imaging performed during upper abdominal pain investigation. Laboratory examinations were normal and CT imaging set the diagnosis of an isolated left renal hydatid cyst. The cyst was excised and the postoperative period was uneventful. Discussion. Isolated renal hydatid cyst is a very rare condition and could possibly be misdiagnosed with other renal masses. The clinical history, laboratory tests, and thorough radiologic imaging are crucial for the accurate preoperative diagnosis.
Primary CNS Lymphoma Arising from the 4th Ventricle: A Case Report and Review of the Literature
Authors: Ava Brozovich, Donald Ewing, Ethan Burns, Courtney Hatcher, Gonzalo Acosta, Usman Khan, Betty Chung, Leena Samuel, Jasleen Randhawa, Sai Ravi Pingali
Journal: Case Rep Oncol Med (2019)
MeSH terms: Case Reports

A 65-year-old male with a history of ischemic strokes, seizures, and subarachnoid hemorrhage presented with a 4-week history of progressive diplopia, vertigo, nausea, and vomiting. Magnetic resonance imaging (MRI) revealed a 2.5 × 1.8 × 1.7 cm posterior fossa mass arising from the roof of the 4th ventricle extending into the cerebellar vermis. Posterior fossa craniotomy with stereotactic biopsy confirmed a locally invasive diffuse large B-cell lymphoma (DLBCL). Primary central nervous system lymphoma (PCNSL) arising from the 4th ventricle is a rare extranodal manifestation of non-Hodgkin lymphoma (NHL), with few cases documented in the literature. Review of available cases lends support that lymphoma arising from the 4th ventricle has a variable clinical presentation, occurs most commonly in immunocompetent males, and should be on the differential of any immunocompetent adult presenting with a posterior fossa mass. Optimal treatment modalities are based largely on phase 2 clinical trials, and recommended guidelines regardless of anatomic location should be adhered to.