OpenMed/multicare-articles huggingface dataset:
Case Report: Neonatal Complex Congenital Heart Disease With Anomalous Origin of the Left Coronary Artery From the Right Pulmonary Artery: Analysis of Missed Diagnosis and Improvement Procedures
Authors: Zhen Bing, Leilei Liu, Rui Chen, Qian Cao, Wen Ge
Journal: Front Pediatr (2022)
Keywords: anomalous origin of the left coronary artery from the right pulmonary artery, congenital heart disease, improvement procedure, missed diagnosis, neonate
MeSH terms: Case Reports

The anomalous origin of the left coronary artery from the right pulmonary artery is a rare type of congenital disease. It is even rarer when combined with complex congenital heart diseases requiring surgical intervention in the neonatal period. Because it has no clinical manifestations in the neonatal period, it is easier to miss diagnosis when combined with complex congenital heart disease. To avoid a missed diagnosis of anomalous origin of the left coronary artery from the right pulmonary artery, preoperative echocardiography should routinely explore the orifice of the coronary artery. However, the preoperative examination can lead to missed diagnosis due to the influence of the examiner's experience, equipment, and other factors. After thoracotomy, exploring the orifice position of the left and right coronary arteries can avoid a missed diagnosis of the abnormal origin of coronary arteries. An exploration of the coronary artery is mainly recommended for children with complex congenital heart disease in the neonatal period and children with congenital heart disease combined with unexplained cardiac insufficiency and abnormal mitral valve development.
A Non-Fatal Impalement Injury to the Right Thorax: A Case Report
Authors: Adam J Mann, Lawrence Lottenberg, Faris Azar, Nir Hus
Journal: Cureus (2023)
Keywords: complex trauma, extremity vascular trauma, general thoracic surgery, impalement, major trauma, thoracic surgeries, vascular exposure
MeSH terms: Case Reports

Impalement injuries secondary to motor vehicle collisions are rare. Reviewing the systematic approach to treating these injuries can benefit the surgical community. This case report discusses the presentation and management of a 32-year-old male who was involved in a high-speed, roll-over motor vehicle collision. The car struck a chain-link fence, and the unrestrained passenger sustained a fence post impalement injury to his right thorax. He was alert and oriented when emergency services arrived. He was extricated rapidly and transported to our level-one trauma center, where he received definitive operative management. The patient survived the injury and was discharged home. This case highlights key points in the systematic approach to impalement injuries, including minimal handling of the impaled object, expedient transfer to the local trauma center, emergent operative intervention, vascular control prior to removal of the foreign object, and aggressive irrigation and debridement of the wound.
T-Cell Lymphopenia Detected by Newborn Screening in Two Siblings with an Xq13.1 Duplication
Authors: Xavier Rios, Ivan K Chinn, Jordan S Orange, Celine I Hanson, Nicholas L Rider
Journal: Front Pediatr (2017)
Keywords: t-cell receptor excision circles, xq131, idiopathic t-cell lymphopenia, lymphopenia, primary immunodeficiency, severe combined immunodeficiency
MeSH terms: Case Reports

Newborn screening for severe combined immunodeficiency has proven successful in identifying infants with T-cell deficiencies before they become severely ill. Additionally, the newborn screen can detect subtle early phenotypes that may become severe later in life. We present the case of siblings with features suggestive of T-cell lymphopenia identified as having low T-cell receptor excision circles counts by newborn screening. Expanded immune testing showed robust lymphocyte mitogen and antigen responses with normal vaccine responses and immunoglobulin levels for both boys over time. Genetic analysis revealed an Xq13.1 duplication in each child not found in the mother. The variant is downstream of the IL2RG gene with potential regulatory significance, suggesting a mechanism for the T-cell lymphopenia. The newborn screen provided these patients heightened surveillance and patient-specific management, including delayed live vaccines and Pneumocystis jiroveci pneumonia prophylaxis. Fortunately, the brothers have not suffered invasive or opportunistic infections and are well at ages 3 and 4 years. In this report, we illustrate the challenges of managing seemingly asymptomatic immunodeficient patients without a definitive genetic diagnosis and show how unbiased genetic analysis can expand understanding about primary immunodeficiency phenotypes.
Cryptococcus neoformans Meningoencephalitis in an Immunocompetent Patient after COVID-19 Infection
Authors: Hebah Ghanem, Geetha Sivasubramanian
Journal: Case Rep Infect Dis (2021)
MeSH terms: Case Reports

Cryptococcus neoformans is a saprophytic fungus that causes fatal disseminated infections in immunocompromised hosts. Since the onset of the COVID-19 pandemic, multiple cases of secondary viral, bacterial, and fungal infections have been reported in patients after SARS-CoV-2 infection. We describe here a case of severe cryptococcal meningitis that developed in a previously healthy patient one week after treatment of SARS-CoV-2 infection with dexamethasone. This case adds to the growing knowledge of emerging secondary infectious complications including opportunistic pathogens after SARS-CoV-2 infection. While few reports allude to depressed T-cell function and lymphopenia due to SARS-CoV-2 infection, further studies are needed to evaluate the effects of this infection and its treatment on the immune system and its contribution to the emergence of secondary opportunistic infections.
Treatment of Chronic Hepatitis C Can Improve Glycemic Control in Patients with Type 2 Diabetes
Authors: Nalan Okuroglu, Meltem Sertbas, Ali Ozdemir
Journal: Case Reports Hepatol (2018)
MeSH terms: Case Reports

A 73-year-old female patient with a history of type 2 DM for seven years was admitted to our out-patient clinic with a complaint of frequent hypoglycemic episodes. She was receiving basal- bolus insulin treatment. She underwent liver transplantation 20 months ago due to end stage liver disease caused by HCV infection genotype 1b. While she was still on tacrolimus for liver transplantation, she received direct acting antiviral agents including fix dose ledipasvir-sofosbuvir with ribavirin. Biochemical analysis showed fasting plasma glucose of 105 mg/dl and postprandial glucose of 200 mg/dl, glycosylated hemoglobin A1c of 4.8%, and c-peptide of 3.17 ng/ml. After achieving successfully virologic response with antiviral therapy, the patient stayed euglycemic and was no longer in need to any medication including insulin and the patient was followed only by dietary regulation. Achievement of the virological response in treatment of HCV infection can improve not only the liver status, but also the extrahepatic manifestations including type 2 DM.
Giant congenital melanocytic nevi and neurocutaneous melanosis
Authors: Catarina Araújo, Cristina Resende, Francisco Pardal, Celeste Brito
Journal: Case Rep Med (2015)

Introduction. The major medical concern with giant congenital melanocytic nevi CMN is high risk of developing cutaneous melanoma, leptomeningeal melanoma, and neurocutaneous melanocytosis. Case Report. A 30-year-old woman with a giant congenital melanocytic nevus covering nearly the entire right thoracodorsal region and multiple disseminated melanocytic nevi presented with neurological symptoms. Cerebral magnetic resonance imaging revealed a large expansive lesion in the left frontal region. Postsurgically pathological diagnosis revealed characteristics of melanoma. Immunohistochemical examination showed S100(+), HMB45(+), MelanA(+), and MiTF(+). She received radiotherapy with temozolomide followed by two more chemotherapy cycles with temozolomide. She followed a rapidly progressive course, reflecting widespread leptomeningeal infiltration, and she died of multiorgan failure seven months after diagnosis of cerebral melanoma. Discussion. This patient was diagnosed as having a neurocutaneous melanosis with malignant widespread leptomeningeal infiltration. Diffuse spinal involvement is unusual and is described in only another patient.
Nodular Lymphocyte Predominant Hodgkin Lymphoma of the Thyroid
Authors: Carlos Tavares Bello, João Cassis, Helder Simões, João Sequeira Duarte
Journal: Case Rep Endocrinol (2016)

Thyroid lymphomas are rare clinical entities that may result from either the primary intrathyroid de novo or secondary thyroid gland involvement of a lymphoma. Among these, the Hodgkin's subtype is quite uncommon, accounting for 0.6-5% of all thyroid malignancies. The authors report on a 76-year-old female presenting with a thyroid nodule that, upon surgical excision, was found to be a nodular lymphocyte predominant Hodgkin lymphoma of the thyroid. So far, thyroid involvement by this variant has never been reported. Upon reporting on this clinical case, the authors emphasize the difficulties usually found in establishing the diagnosis and in defining the best management strategy. A thorough review of the available literature is done.
A Term Neonatal Case With Lethal Respiratory Failure Associated With a Novel Homozygous Mutation in ABCA3 Gene
Authors: Meili Wei, Haibo Fu, Aiqin Han, Liji Ma
Journal: Front Pediatr (2020)
Keywords: abca3 gene, full-term neonate, interstitial lung diseases, lethal respiratory distress syndrome, pulmonary surfactant
MeSH terms: Case Reports

The mutations in the ABCA3 (ATP-binding cassette transporter subfamily A member 3) gene could result in lethal respiratory distress syndrome (RDS) in neonates and interstitial lung disease (ILD) in infants and children. Here, we describe a full-term newborn who manifested respiratory distress 20 min after birth and then gradually developed hypoxemic respiratory failure and died on 53 days of life. A homozygous missense mutation (c.746C >T) was identified in exon 8 of ABCA3 gene in the neonate by next-generation sequencing, and the mutations were inherited from parents, respectively. This homozygous mutation is the first reported to date.
Prenatal Diagnosis of Mosaic Tetrasomy 18p in a Case without Sonographic Abnormalities
Authors: Javad Karimzad Hagh, Thomas Liehr, Hamid Ghaedi, Mir Majid Mossalaeie, Shohreh Alimohammadi, Faegheh Inanloo Hajiloo, Zahra Moeini, Sadaf Sarabi, Davood Zare-Abdollahi
Journal: Int J Mol Cell Med (2017)
Keywords: tetrasomy, amniocentesis, cordocentesis, isochromosome 18p, marker, polydactyly, prenatal, small supernumerary marker chromosome (ssmc)
MeSH terms: Case Reports

Small supernumerary marker chromosomes (sSMC) are still a major problem in clinical cytogenetics as they cannot be identified or characterized unambiguously by conventional cytogenetics alone. On the other hand, and perhaps more importantly in prenatal settings, there is a challenging situation for counseling how to predict the risk for an abnormal phenotype, especially in cases with a de novo sSMC. Here we report on the prenatal diagnosis of a mosaic tetrasomy 18p due to presence of an sSMC in a fetus without abnormal sonographic signs. For a 26-year-old, gravida 2 (para 1) amniocentesis was done due to consanguineous marriage and concern for Down syndrome, based on borderline risk assessment. Parental karyotypes were normal, indicating a de novo chromosome aberration of the fetus. FISH analysis as well as molecular karyotyping identified the sSMC as an i(18)(pter->q10:q10->pter), compatible with tetrasomy for the mentioned region. Cordocentesis was done due to normal sonography and the results from amniocentesis were confirmed. The parents opted for pregnancy termination and post mortem examination now noted, low anterior hairline, large philtrum, low-set posteriorly rotated malformed ears with prominent antihelix, lower limbs joint contracture and digital anomalies, including long and narrow toes with clinodactyly of the 1st and 5th toes and postaxial polydactyly of one hand. De novo i(18p) can be considered as a special case in the sense that the major relevant phenotypes mentioned for it, i.e. feeding difficulties, abnormalities in muscle tone and developmental/mental retardation, cognitive and behavioral characteristics, recurrent otitis media and seizures, are mostly postnatal. This emphasizes the necessity to determine the nature of a de novo euchromatic marker chromosome, especially in cases with normal ultrasound result and the suitability of a cordocentesis in order to better predicting the pregnancy outcome and parental counseling.
Multiple sclerosis with ophthalmologic onset - case report
Authors: Dănuţ Costin, Gabriela Mirela Pînzaru, Andra Mădălina Pătraşcu, Anca Moţoc, Andreea Dana Moraru
Journal: Rom J Ophthalmol (2018)
Keywords: diplopia, multiple sclerosis, optic neuritis
MeSH terms: Multiple Sclerosis / complications, Optic Neuritis / etiology, Case Reports, Humans, Multiple Sclerosis / diagnosis, Tomography, Optical Coherence, Visual Acuity, Visual Fields

Ophthalmological and neurological signs and symptoms were assessed in a patient diagnosed with retrobulbar optic neuritis associated with multiple sclerosis (MS). The patient presented with progressive decrease of visual acuity, intermittent diplopia, paresthesia of the left arm and equilibrium disturbances. The complete ophthalmologic examination (clinical examination, visual field, optical coherence tomography) along with an MRI exam supported the diagnosis of MS with active lesions associated with retrobulbar optic neuritis. The corticosteroid therapy, followed by betaferon led to the remission of both ophthalmological and neurological signs. The multidisciplinary approach of the case played an important role in the early establishment of the diagnosis as well as the functional recovery of this patient.
Clinical Features and Outcomes of Bilateral Atypical Femoral Fractures
Authors: Kosuke Hamahashi, Toshihiro Noguchi, Yoshiyasu Uchiyama, Masato Sato, Masahiko Watanabe
Journal: Case Rep Orthop (2020)
MeSH terms: Case Reports

Bilateral atypical femoral fractures (AFFs) are relatively rare. In this report, we retrospectively researched clinical features and outcomes of bilateral AFFs treated at our institution. We previously treated 4 patients (8 limbs) with intramedullary nailing for complete AFFs (6 limbs) and incomplete AFFs (2 limbs). The mean age at the first operation was 53.3 years, and all patients were female. Of the 4 patients, two had breast cancer, and another two had systemic lupus erythematosus. Three of them received bisphosphonates, and 2 received denosumab, proton pump inhibitor, or glucocorticoid therapy. Only 2 of 6 cases of incomplete AFFs had prodromal pain before progressing to complete fracture. The mean interval from the first surgery to contralateral fracture or prophylactic surgery was 16 months. Radiographically, complete bone union was achieved in 6 limbs. However, a small gap at the lateral cortex of fracture site remained in 2 limbs. Finally, all of the patients were pain-free and able to walk without a cane. It is absolutely necessary to confirm contralateral femoral conditions; however, prediction of progression to complete fracture based solely on prodromal pain was difficult. Therefore, we should advise patients about the danger of progression to complete AFFs even if they are asymptomatic, and a prophylactic surgery should be performed after obtaining informed consent.
Delayed Presentation of Vaginal Cuff Dehiscence after Robotic Hysterectomy for Gynecologic Cancer: A Case Series and Review of the Literature
Authors: Pamela A Escobar, Gregory M Gressel, Gary L Goldberg, Dennis Yi-Shin Kuo
Journal: Case Rep Obstet Gynecol (2016)

Background. Vaginal cuff dehiscence after hysterectomy has varying incidence according to surgical approach, with highest rates associated with laparoscopic surgery. Comparative data on timing of diagnosis describe a wide range of clinical presentation from weeks to years after hysterectomy. Limited reports have focused specifically on delayed presentation of vaginal cuff dehiscence. Cases. All cases of vaginal cuff dehiscence at our institution between 2005 and 2015 were collectively reviewed and three cases were identified of women who presented with cuff dehiscence greater than 180 days from index surgery. Diagnosis occurred at 342 to 461 days after operation. One patient presented with abdominal pain, a second case presented with vaginal discharge, and the third case lacked clinical symptoms altogether. Prior to diagnosis, one case received chemotherapy and external beam radiation for Stage IB1 cervical cancer and another case received external beam radiation alone for Stage II endometrioid adenocarcinoma. All cuffs were repaired vaginally with interrupted, early absorbable suture. Conclusion. Robotic total laparoscopic hysterectomy may be associated with increased risk of vaginal cuff dehiscence. Further studies are needed to determine risk factors and patient characteristics associated with delayed presentation of vaginal cuff dehiscence in robotic total hysterectomy as well as all surgical approaches.
Persistent wandering atrial pacemaker after epinephrine overdosing - a case report
Authors: Elhadi H Aburawi, Hassib Narchi, Abdul-Kader Souid
Journal: BMC Pediatr (2013)
MeSH terms: Croup / drug therapy, Drug Overdose / complications, Epinephrine / adverse effects, Medication Errors / adverse effects, Sympathomimetics / adverse effects, Tachycardia, Ectopic Atrial / chemically induced, Case Reports, Child, Preschool, Epinephrine / therapeutic use, Humans, Male, Sympathomimetics / therapeutic use, Tachycardia, Ectopic Atrial / diagnosis, Sympathomimetics, Epinephrine

Background:
Long-term complications of sympathomimetic drug overdosing have not been adequately investigated in infants and young children. Despite reports discouraging their use in children, these formulations are frequently administered for "cold-like symptoms". Their frequent adverse events are different forms of arrhythmias, including multifocal atrial tachycardia.
Case presentation:
A 3-year-old toddler developed multifocal atrial tachycardia following an iatrogenic overdose of epinephrine accidentally administered intravenously. His ECG showed wandering atrial pacemaker (p-waves with different origins and configurations) that persisted for at least one year. This event demonstrated the sensitivity of young children to the sympathomimetic drugs, especially overdosing.
Conclusions:
Health care providers and parents should be warned of toxicities associated with sympathomimetic drug overdosing. Future studies are needed to determine whether wandering atrial pacemaker is a potential long-term complication of high-dose sympathomimetics.
A case of syncronised hereditery nonpoliposis colorectal tumor with different hystopathological type and k-ras gene mutation: case report
Authors: Bulent Dinc, Halis Musfik Temel
Journal: J Clin Med Res (2013)
Keywords: colorectal neoplasms, hereditary nonpolyposis, k-ras gene, synchronous neoplasms
MeSH terms: Case Reports

Hereditary nonpoliposis colorectal cancers (HNPCC) make up 2-7% of colorectal cancer (CRC) cases. CRC's in these group of patients are usually located in proxymal colon. The incidence of syncronic metacron CRC is 18%. The incidence of having different hystopathological types for these group of tumors varies between 3-9%. APC, p53 and K-ras gene mutations may be seen in HNPCC's. The least frequent mutation is the mutation on K-ras gene. In this report, a syncronic metacron CRC with different hystopathological type and K-ras gene mutation localised in transverse and left colon that has developed on the basis of HNPCC is discussed.
Case Report: A novel heterozygous nonsense mutation in KRIT1 cause hereditary cerebral cavernous malformation
Authors: Zhenxing Liu, Kaikai Guo, Xuebin Hu, Xianqin Zhang
Journal: Front Oncol (2023)
Keywords: krit1, cerebral cavernous malformation, novel mutation, vascular malformation disease, whole exome sequencing
MeSH terms: Case Reports

Cerebral cavernous malformation (CCM) is a vascular malformation of the central nervous system and mainly characterized by enlarged capillary cavities without intervening brain parenchyma. Genetic studies have identified three disease-causing genes (CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10) responsible for CCM. Here, we characterized a four-generation family diagnosed with CCM and identified a novel heterozygous mutation c.1159C>T, p.Q387X in KRIT1 gene by whole exome sequencing and Sanger sequencing. The Q387X mutation resulted in premature termination of KRIT1 protein, which was predicted to be deleterious by the ACMG/AMP 2015 guideline. Our results provide novel genetic evidence support that KRIT1 mutations cause CCM, and are helpful to the treatment and genetic diagnosis of CCM.
Recurrent Pneumothorax in a Critically Ill Ventilated COVID-19 Patient
Authors: Lucas Rehnberg, Robert Chambers, Selina Lam, Martin Chamberlain, Ahilanandan Dushianthan
Journal: Case Rep Crit Care (2020)
MeSH terms: Case Reports

We present this case of a young woman with SARS-CoV-2 viral infection resulting in coronavirus 2019 (COVID-19) lung disease complicated by a complex hydropneumothorax, recurrent pneumothorax, and pneumatoceles. A 33-year-old woman presented to the hospital with a one-week history of cough, shortness of breath, and myalgia, with no other significant past medical history. She tested positive for COVID-19 and subsequently, her respiratory function rapidly deteriorated, necessitating endotracheal intubation and mechanical ventilation. She had severe hypoxic respiratory failure requiring a protracted period on the mechanical ventilator with different ventilation strategies and multiple cycles of prone positioning. During her proning, after two weeks on the intensive care unit, she developed tension pneumothorax that required bilateral intercostal chest drains (ICD) to stabilise her. After 24 days, she had a percutaneous tracheostomy and began her respiratory wean; however, this was limited due to the ongoing infection. Thorax CT demonstrated a left-sided pneumothorax, with bilateral pneumatoceles and a sizeable, complex hydropneumothorax. Despite the insertion of ICDs, the hydropneumothorax persisted over months and initially progressed in size on serial scans needing multiple ICDs. She was too ill for surgical interventions initially, opting for conservative management. After 60 days, she successfully underwent a video-assisted thoracoscopic surgery (VATS) for a washout and placement of further ICDs. She was successfully decannulated after 109 days on the intensive care unit and was discharged to a rehabilitation unit after 116 days of being an inpatient, with her last thorax CT showing some residual pneumatoceles but significant improvement. Late changes may mean patients recovering from the COVID-19 infection are at increased risk of pneumothoracies. Clinicians need to be alert to this, especially as bullous rupture may not present as a classical pneumothorax.