OpenMed/multicare-articles huggingface dataset:
Case Report: Identification of Germline Chimerism in Monochorionic Dizygotic Twins
Authors: Juan Chen, Jian Xu, Zhi-Heng Chen, Min-Na Yin, Xin-Yu Guo, Ling Sun
Journal: Front Genet (2021)
Keywords: mcdz twins, pgt-a, ddpcr, germ cell, tissues chimerism
MeSH terms: Case Reports

Monochorionic twins are generally considered to be monozygotic, as monochorionic dizygotic (MCDZ) twins are extremely rare in natural pregnancies. Several studies have reported this rare occurrence, and most of these pregnancies have been conceived by assisted reproductive technology (ART). These reports mostly focused on MCDZ twin pregnancies and the childhood development of the twins; a follow-up into adulthood and the effect on their reproduction has not been reported. In this case study, we report a case of chimerism in opposite-sex MCDZ twins who were naturally conceived and have reached reproductive maturity. We collected oral mucosal, endometrial, and germ cells from the twins and evaluated their chimerism using single-nucleotide polymorphism (SNP) array and droplet digital PCR (ddPCR). The SNP array showed that they had 4,049 non-allele shared loci, and they inherited nearly 50% informative SNP loci from each parent, confirming that they are dizygotic twins. We found that the female twin had a 46, XX (2)/46, XY (78) karyotype in her peripheral blood. The SNP array confirmed that the female twin and male twin had the same blood haplotype. The ddPCR result showed 92.84 (± 1.80%) chimerism in her blood. In case of chimerism in her germline, the female twin chose preimplantation genetic testing for aneuploidy for her blastocysts. Fortunately, the patient only had blood chimerism. A healthy boy was born at 39 weeks of gestation.
Fast track extubation in paediatric cardiothoracic surgery in developing countries
Authors: Federica Iezzi, Michele Di Summa, Paolo Del Sarto, James Munene
Journal: Pan Afr Med J (2019)
Keywords: congenital heart disease, fast-tracking, mechanical ventilation
MeSH terms: Airway Extubation / methods, Anesthetics / administration & dosage, Cardiac Surgical Procedures / methods, Heart Defects, Congenital / surgery, Case Reports, Adolescent, Child, Child, Preschool, Cohort Studies, Developing Countries, Female, Humans, Infant, Intubation, Intratracheal / methods, Male, Medical Missions, Patient Selection, Postoperative Complications / epidemiology, Time Factors, Anesthetics

In recent years, low-dose, short-acting anesthetic agents, which replaced the former high-dose opioid regimens, offer a faster postoperative recovery and decrease the need for mechanical ventilatory support. In this study, the aim was to determine the success rate of fast-track approach in surgical procedures for congenital heart disease. There is some evidence, mostly from retrospective analyses, that fast tracking can be beneficial. Ninety-one cases with moderate complex cardiac malformations were operated with fast-track protocol during cardiothoracic charitable missions. The essential aspects of early extubation in our cohort included: selected patients with good preoperative status, good surgical result with hemodynamic stability in low dose of inotropic drugs at the end of bypass, no active bleeding. In this setting a carefull choice and dosing of anesthetic agents, alongside a good postoperative analgesia are mandatory. The authors found that an early extubation (< 4 hours) can be both effective and safe as it reduces intubation and ventilator times without increasing post-operative complications in pediatric congenital heart disease. This study supports a wider use of fast-track extubation protocols in paediatric patients submitted for congenital cardiac surgery in developing countries.
Asymptomatic Intestinal Malrotation Progressing to Midgut Volvulus in a Decompensated Alcoholic Cirrhotic Adult: A Rare Scenario Requiring Special Considerations
Authors: Vatche Melkonian, Pablo Quadri, Chintalapati R Varma, Mustafa Nazzal, Henry B Randall, Minh-Tri J P Nguyen
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Intestinal malrotation usually presents in the pediatric population with midgut volvulus requiring emergency Ladd's procedure. Rarely, it remains asymptomatic and is discovered incidentally only during adulthood when it seldom causes intestinal complications. The scenario of a cirrhotic adult being diagnosed with asymptomatic intestinal malrotation with subsequent intestinal complications is thus extremely rare and to our knowledge has not been previously reported. We describe a 56-year-old man with decompensated alcoholic cirrhosis (Child-Pugh class C, MELD score 22) who was initially observed after an incidental diagnosis of intestinal malrotation on computed tomography. Observation continued as his liver disease improved with alcohol cessation (Child-Pugh class A, MELD score 8). He later presented with a closed loop bowel obstruction secondary to midgut volvulus at the time of alcohol relapse and liver redecompensation (Child-Pugh class C, MELD score 22-29). He underwent emergency Ladd's procedure during which his midjejunum was volvulized into an internal hernia space created by a thick Ladd's band containing large varices. The postoperative course was complicated by ileus and loculated bacterial peritonitis. Based on our experience, we discuss special considerations with regard to the surgical technique and timing of Ladd's procedure when encountering intestinal malrotation in a cirrhotic adult with portal hypertension.
Elevated CA 125 in a CASE of Leaking Endometrioma
Authors: Svetha Rao, Supuni Kapurubandara, Anbu Anpalagan
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Extremely elevated CA 125, usually suggestive of ovarian malignancy, can be found in physiological or benign conditions such as endometriosis. We present a case of an extremely elevated serum CA 125 level in a patient with stage four endometriosis and bilateral unruptured ovarian endometriomas, with evidence of leakage unilaterally. To avoid costly and unnecessarily invasive tests and procedures it is important to consider the differential diagnosis of endometriosis and/or leaking endometrioma in patients with a profoundly elevated CA 125 level.
Huge mucinous cystadenoma of the pancreas mistaken for a pseudocyst
Authors: Iyiade Olatunde Olaoye, Micheal Dapo Adesina
Journal: Pan Afr Med J (2013)
Keywords: cystic tumor, cystadenoma, pancreas, pseudocyst
MeSH terms: Cystadenoma, Mucinous / diagnosis, Pancreatic Neoplasms / diagnosis, Pancreatic Pseudocyst / diagnosis, Case Reports, Biopsy, Cystadenoma, Mucinous / pathology, Cystadenoma, Mucinous / surgery, Diagnostic Errors, Female, Humans, Jejunostomy / methods, Laparotomy / methods, Middle Aged, Pancreatic Neoplasms / pathology, Pancreatic Neoplasms / surgery, Pancreatic Pseudocyst / pathology, Pancreatic Pseudocyst / surgery, Sensitivity and Specificity

Cystic tumors of the pancreas are rare and can be confused with pseudocysts.We present a 50 year old woman with a huge mucinous cystadenoma of the pancreas initially diagnosed and managed with a cystojejunostomy and cyst wall biopsy. She required another laparotomy and tumor excision after histological diagnosis. Sensitivity of radiological imaging in differentiating between cystic pancreatic tumors and pseudocysts is limited. Cyst wall histology is diagnostic and biopsy of cyst wall should be done in cases with inconclusive preoperative diagnosis or questionable operative findings.
Culture negative empyema in a critically ill child: an opportunity for rapid molecular diagnostics
Authors: Elsa L Vazquez Melendez, John J Farrell, Andrea M Hujer, Kristin S Lowery, Rangarajan Sampath, Robert A Bonomo
Journal: BMC Anesthesiol (2014)
Keywords: antimicrobial stewardship, culture negative infection, empyema, pediatric infection
MeSH terms: Anti-Bacterial Agents / therapeutic use, Community-Acquired Infections / diagnosis, Empyema / drug therapy, Streptococcal Infections / drug therapy, Case Reports, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Child, Preschool, Community-Acquired Infections / drug therapy, Community-Acquired Infections / microbiology, Critical Illness, Empyema / diagnosis, Empyema / microbiology, Female, Humans, Molecular Diagnostic Techniques / methods, Nucleic Acid Amplification Techniques / methods, Polymerase Chain Reaction, Spectrometry, Mass, Electrospray Ionization / methods, Streptococcal Infections / microbiology, Streptococcus mitis / isolation & purification, Viridans Streptococci / isolation & purification, Anti-Bacterial Agents

Background:
Nucleic acid amplification technologies (NAAT) are advancing our ability to make rapid molecular diagnoses in patients with serious culture negative infections. This is the first report of PCR coupled to electrospray ionization mass spectrometry use in the evaluation of complicated community acquired pneumonia in a pediatric patient.
Case presentation:
We present a case of culture negative empyema in a critically ill, Caucasian, 2-year-old girl who was treated with broad-spectrum empiric antibiotics, in which the length of stay was prolonged by adverse effects of the empiric antibiotic treatment. PCR coupled to electrospray ionization mass spectrometry was applied to culture negative fluid and tissue samples from the patient in order to determine the etiology of the empyema.
Conclusions:
Using this method, Streptococcus mitis/viridans was identified as the pathogen. A retrospective review of cases of empyema in children at our institution found that 87.5% of cases were negative for identification of a pathogen and antibiotics were administered to 100% of cases prior to collecting pleural fluid for culture. Understanding the role of Streptococcus mitis/viridans group in the etiology of empyema using an advanced NAAT coupled with mass spectrometry can enlighten clinicians as to the impact of this pathogen in community acquired pneumonia and help assist with antibiotic stewardship.
Surgical extirpation of glomus tumor from rare localization on the upper extremity
Authors: Jan Hrubý, Robert Novotný, Miroslav Spaček, Petr Mitáš, Jaroslav Hlubocký, David Janák, Ctibor Povýšil, Jaroslav Lindner
Journal: Case Rep Vasc Med (2013)

Objective. To report on a very rare case of a glomus tumor manifested on the upper arm in a healthy young male patient. Case Presentation and Intervention. A 22-year-old male patient presented with bluish multifocal venous malformation on the left upper arm and was admitted for venous malformation excision. Pain, discomfort, and upper arm paraesthesia had been present for almost 6 years. Ultrasonography revealed septet tumor without blood flow in the subcutaneous region of anterior aspect of the upper arm. A multifocal venous malformation approximately 5-10 mm in diameter was excised. Histological examination showed dilated vascular area with proliferated glomus cells with round nucleus in the wall of dilated vascular structures. Based on histological examination, the final diagnosis was made as "glomangioma." Conclusion. Histological examination is the only method that can establish final diagnosis. Currently, the only available treatment for this type of tumor is surgical excision.
A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype
Authors: James D Weisfeld-Adams, Amanda K Tkachuk, Kenneth N Maclean, Naomi L Meeks, Stuart A Scott
Journal: NPJ Genom Med (2016)
MeSH terms: Case Reports

Down syndrome (DS) is the most common genetic cause of intellectual disability (ID) and in the majority of cases is the result of complete trisomy 21. The hypothesis that the characteristic DS clinical features are due to a single DS critical region (DSCR) at distal chromosome 21q has been refuted by recently reported segmental trisomy 21 cases characterised by microarray-based comparative genomic hybridisation (aCGH). These rare cases have implicated multiple regions on chromosome 21 in the aetiology of distinct features of DS; however, the map of chromosome 21 copy-number aberrations and their associated phenotypes remains incompletely defined. We report a child with ID who was deemed very high risk for DS on antenatal screening (1 in 13) and has partial, but distinct, dysmorphologic features of DS without congenital heart disease (CHD). Oligonucleotide aCGH testing of the proband detected a previously unreported de novo 2.78-Mb duplication on chromosome 21q22.11 that includes 16 genes; however, this aberration does not harbour any of the historical DSCR genes (APP, DSCR1, DYRK1A and DSCAM). This informative case implicates previously under-recognised candidate genes (SOD1, SYNJ1 and ITSN1) in the pathogenesis of specific DS clinical features and supports a critical region for CHD located more distal on chromosome 21q. In addition, this unique case illustrates how the increasing resolution of microarray and high-throughput sequencing technologies can continue to reveal new biology and enhance understanding of widely studied genetic diseases that were originally described over 50 years ago.
Trachea repair using an autologous pericardial patch combined with a 3D carbon fiber stent: A case report
Authors: Bin Wang, Zhe Zhang, Yuanwei Guo, Fenglei Yu
Journal: Front Surg (2023)
Keywords: 3d carbon fiber stent, autologous pericardial patch, case report, trachea defect, trachea repair
MeSH terms: Case Reports

This study is the first to use an autologous pericardial patch combined with a 3D carbon fiber stent for the plastic repair of a large trachea defect. Radical surgery is the optimal therapy for primary malignant tracheal tumors. Tracheoplasty or repair is required to guarantee trachea integrity and normal ventilation function after tracheal tumor resection. Here, we present a case of plastic repair of the trachea using an autologous pericardial patch and a 3D custom-made carbon fiber stent. A 4 cm trachea defect was successfully repaired after resecting a malignant schwannoma. The postoperative ventilatory function was normal without obvious symptoms of discomfort. Fiberoptic bronchoscopy showed a smooth mucosal surface of the endotracheal wall and patency of the airway. CT scans performed 3 years after surgery showed no recurrence. Therefore, we can conclude that a 3D carbon fiber stent is feasible for abolishing patch floating and preventing tracheal stenosis.
Novel Conservative Approach to High Surgical Risk Frail Proximal Femur Fractures
Authors: Alexander Koizia, Ala Abuown, Julie Vowles, Damien Smith, Louis J Koizia
Journal: Case Rep Orthop (2020)
MeSH terms: Case Reports

One of the major impacts following a neck of femur fracture is pain. Most patients (nearly all) undergo an operation. This usually includes the frailest terminal patients and deemed a palliative procedure to reduce ongoing pain. The operation comes with risks and can reduce life expectancy in these patients and result in prolonged hospital admission, delirium, and postoperative complications. This case highlights a novel approach to managing the frailest end-of-life patients that does not require them to undergo a conventional operation. The case resulted in a quick discharge from hospital and for the patient and family to maximise the time out of hospital, with a reduced analgesic burden and a peaceful passing away. We feel that this could be an alternative, more humane option for such patients.
Autologous Dermis Graft Implantation: A Novel Approach to Reinforcement in Giant Hiatal Hernias
Authors: Balázs Kovács, Mikolt Orosz, Máté Csucska, Saurabh Singhal, Árpád Juhász, Zoltán Lóderer
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Objectives:
Nonreinforced tensile repair of giant hiatal hernias is susceptible to recurrence, and the role of mesh graft implantation remains controversial. Creating a new and viable choice without the use of high-cost biological allografts is desirable. This study presents the application of dermis graft reinforcement, a cost-efficient, easily adaptable alternative, in graft reinforcement of giant hiatal hernia repairs.
Methods:
A 62-year-old female patient with recurrent giant hiatal hernia (9 × 11 cm) and upside down stomach, immediately following the Belsey repair done in another department, was selected for the pilot procedure. The standard three-stitch nonabsorbable reconstruction of diaphragmatic crura was undertaken via laparoscopic approach. A 12 × 6 cm dermis autograft was harvested from the loose abdominal skin. "U" figure onlay reinforcement of diaphragm closure was secured with titanium staples. The procedure was completed with a standard Dor fundoplication. One- and seven-month follow-ups were conducted.
Results:
No short-term postoperative complications were observed. One-month follow-up showed normal anatomical location of abdominal viscera on computed tomography imaging. High-resolution manometry showed normal lower esophageal sphincter pressure. Preoperative abdominal complaints were resolved. Procedural costs were lower than the average cost following mesh graft reinforcement.
Conclusion:
Dermis graft reinforcement is a cheap, easily adaptable procedure in the repair of giant hiatal hernias, even in the setting of laparoscopic reoperative procedure.
A case report on the surgical treatment of the huge inflammatory pseudotumor in the AIDS patient with hemophilic
Authors: Baochi Liu, Li Liu, Yanling Feng, Lei Li
Journal: Case Rep Pathol (2011)
MeSH terms: Case Reports

An HIV infected hemophilia patient with huge inflammatory pseudotumor was in severe ill condition. The operation of right hip joint amputation was performed on the patient with perioperative infusion of coagulation factor VIII and highly active antiretroviral therapy (HAART). The pathological found that Inflammatory cell infiltration, formation of folliculus lymphaticus, muscular fiber breakage, and fibrous tissue hyperplasy, necrosis in both soft tissue and bone were seen in inflammatory pseudotumour. The vital signs remained stable during the operation and patient's overall health condition improved significantly ten months after operation. With the infusion of coagulation factor VIII and HAART, HIV infected hemophilia patient can be safety operation and may get effective result.
Simultaneous bilateral anterior shoulder dislocation as a result of minimal trauma
Authors: Ismail El Antri, Youssef Benyass, Ali Zine
Journal: Pan Afr Med J (2020)
Keywords: bilateral, anterior, shoulder dislocation
MeSH terms: Orthopedic Procedures / methods, Shoulder Dislocation / therapy, Shoulder Joint / physiopathology, Case Reports, Adult, Humans, Male, Range of Motion, Articular, Shoulder Dislocation / etiology, Shoulder Dislocation / physiopathology, Shoulder Injuries, Treatment Outcome

Simultaneous bilateral anterior shoulder dislocation is rare, it often occurs after high energy trauma, we report a case of a 43-years-old male presented with bilateral anterior shoulder dislocation when he tries to stand up from the floor, shoulders in extension, abduction and external rotation. A closed reduction was performed without complications, and one month later the right shoulder was stabilized by open Laterjet technique. The evolution was favorable for both shoulders with no pain, recuperation of the range motion and no recurrence of dislocation. Through this case we underline the value of early diagnosis and appropriate treatment of bilateral anterior shoulder dislocation, to avoid complications and obtain good result.
A Case Report of Sequential Use of a Yeast-CEA Therapeutic Cancer Vaccine and Anti-PD-L1 Inhibitor in Metastatic Medullary Thyroid Cancer
Authors: Jaydira Del Rivero, Renee N Donahue, Jennifer L Marté, Ann W Gramza, Marijo Bilusic, Myrna Rauckhorst, Lisa Cordes, Maria J Merino, William L Dahut, Jeffrey Schlom, James L Gulley, Ravi A Madan
Journal: Front Endocrinol (Lausanne) (2020)
Keywords: cea, pd-l1 inhibitor, calcitonin, immunotherapy, medullary thyroid cancer
MeSH terms: Antibodies, Monoclonal, Humanized / therapeutic use, B7-H1 Antigen / antagonists & inhibitors, Cancer Vaccines / administration & dosage, Carcinoembryonic Antigen / administration & dosage, Carcinoma, Neuroendocrine / drug therapy, Saccharomyces cerevisiae / immunology, Thyroid Neoplasms / drug therapy, Vaccines, DNA / administration & dosage, Case Reports, Research Support, N.I.H., Intramural, Research Support, Non-U.S. Gov't, Antineoplastic Agents, Immunological / therapeutic use, Carcinoma, Neuroendocrine / immunology, Carcinoma, Neuroendocrine / pathology, Drug Therapy, Combination, Humans, Immune Checkpoint Inhibitors / therapeutic use, Male, Middle Aged, Prognosis, Thyroid Neoplasms / immunology, Thyroid Neoplasms / pathology, Antibodies, Monoclonal, Humanized, Antineoplastic Agents, Immunological, B7-H1 Antigen, CD274 protein, human, Cancer Vaccines, Carcinoembryonic Antigen, Immune Checkpoint Inhibitors, Vaccines, DNA, yeast-CEA vaccine, avelumab, Thyroid cancer, medullary

Medullary thyroid cancer (MTC) accounts for ~4% of all thyroid malignancies. MTC derives from the neural crest and secretes calcitonin (CTN) and carcinoembryonic antigen (CEA). Unlike differentiated thyroid cancer, MTC does not uptake iodine and I-131 RAI (radioactive iodine) treatment is ineffective. Patients with metastatic disease are candidates for FDA-approved agents with either vandetanib or cabozantinib; however, adverse effects limit their use. There are ongoing trials exploring the role of less toxic immunotherapies in patients with MTC. We present a 61-year-old male with the diagnosis of MTC and persistent local recurrence despite multiple surgeries. He was started on sunitinib, but ultimately its use was limited by toxicity. He then presented to the National Cancer Institute (NCI) and was enrolled on a clinical trial with heat-killed yeast-CEA vaccine (NCT01856920) and his calcitonin doubling time improved in 3 months. He then came off vaccine for elective surgery. After surgery, his calcitonin was rising and he enrolled on a phase I trial of avelumab, a programmed death-ligand 1 (PD-L1) inhibitor (NCT01772004). Thereafter, his calcitonin decreased > 40% on 5 consecutive evaluations. His tumor was subsequently found to express PD-L1. CEA-specific T cells were increased following vaccination, and a number of potential immune-enhancing changes were noted in the peripheral immunome over the course of sequential immunotherapy treatment. Although calcitonin declines do not always directly correlate with clinical responses, this response is noteworthy and highlights the potential for immunotherapy or sequential immunotherapy in metastatic or unresectable MTC.