OpenMed/multicare-articles huggingface dataset:
Association between subclinical hyperthyroidism and a PRKAR1A gene variant in Carney complex patients: A case report and systematic review
Authors: Hongyang Wang, Min Mao, Dongfang Liu, Lian Duan
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: carney complex, prkar1a gene, case report, hyperthyroidism, systematic review
MeSH terms: Carney Complex / genetics, Hyperthyroidism / genetics, Case Reports, Systematic Review, Research Support, Non-U.S. Gov't, Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / genetics, Humans, Phenotype, Cyclic AMP-Dependent Protein Kinase RIalpha Subunit, PRKAR1A protein, human

Background and objectives:
It is currently controversial whether subclinical hyperthyroidism is associated with PRKAR1A gene variants. We describe a man with subclinical hyperthyroidism and a PRKAR1A gene variant who was diagnosed with Carney complex (CNC), and we performed a systematic review of published studies to assess the association between PRKAR1A gene variants and the risk of subclinical hyperthyroidism.
Design and methods:
The PubMed, EMBASE, OVID, Science Direct, and gray literature electronic databases were searched for articles published from January 2002 to May 2021 using predefined keywords and inclusion and exclusion criteria. Data on thyroid function from selected studies were extracted and analyzed.
Results:
We identified a CNC patient with a subclinical hyperthyroidism phenotype combined with multiple components and genetic sequenced data. In a subsequent systematic review, twenty selected studies (14 case studies and 6 series studies) enrolling 23 individuals were included in the final analysis. The patient's thyroid function data were qualitative in 11 cases and quantitative in 12 cases. The prevalence of subclinical hyperthyroidism in the CNC patients with a PRKAR1A gene variant, including our patient, was markedly higher than that in the normal population (12.5% vs. 2%).
Conclusions:
The findings of this systematic review provide helpful evidence that PRKAR1A gene variants and subclinical hyperthyroidism are related and suggest that subclinical hyperthyroidism may be a neglected phenotype of PRKAR1A gene variants and a novel component of CNC patients.
Systematic review registration:
https://www.crd.york.ac.uk/PROSPERO, identifier CRD42021197655.
Large de novo ascending aortic thrombus successfully treated with anticoagulation
Authors: Mustafa Houmsse, Asia McDavid, Ahmet Kilic
Journal: J Cardiovasc Thorac Res (2018)
Keywords: apixaban, ascending aorta, thrombus
MeSH terms: Case Reports

An ascending aortic thrombus is a rare source for embolic transient ischemic attack (TIA) or stroke without an associated aortic pathology. Here we describe a case of a patient who presented with generalized symptoms of headache and fatigue who, on subsequent work-up , was found to have an ascending aortic thrombus with no obvious associated aortic pathology, and was successfully treated with apixaban, a newer direct oral anticoagulant.
Case Report: Use of Subcutaneous Midazolam During an Episode of Catatonia
Authors: Valentin Raymond, Etienne Véry, Adeline Jullien, Fréderic Eyvrard, Loic Anguill, Antoine Yrondi
Journal: Front Psychiatry (2021)
Keywords: benzodiazepine, catatonia, negativism, subcutaenous administration, withdrawal
MeSH terms: Case Reports

Midazolam is a benzodiazepine (BZD) mainly used in anesthetic induction due to its pharmacokinetic features. Its place in the therapeutic management of catatonia remains to be determined. Here we present the case of a 65-year-old man who presented with a first episode of catatonia with opposition to any form of oral treatment, where a single dose of 1 mg of subcutaneous (SC) Midazolam permitted clinical improvement allowing oral treatment to be given. The patient's history notably included a renal transplant linked to Polycystic Kidney Disease (PKD) and no history of psychiatric illness nor of any use of psychotropic drugs. As the patient refused to drink or eat and ceased answering basic questions, a psychiatric assessment was required. A diagnosis of Catatonic disorder due to a general medical condition [DSM 5-293.89/ ICD10 [F06.1]] was made. A Bush-Francis Catatonia Rating Scale (BFCRS) analysis returned a score of 15 out of 62, with stupor, mutism, negativism, staring, withdrawal, rigidity, and stereotypy. As the negativism prevented the patient from taking any form of oral treatment, after a brief discussion with the unit's physician, it was decided to administer 1 mg of SC Midazolam. One hour later, the patient was more responsive and compliant, and agreed to drink, eat, and take medication. Thus, the catatonic signs of mutism, negativism, staring, and withdrawal were resolved, but waxy flexibility and catalepsy appeared, leading to a new BFCRS score of 10 out of 62. Oral treatment with 2.5 mg Lorazepam, 4 times a day, was then initiated. Midazolam could be a safer choice compared with the other options available, such as other SC BZD, considering the complex safety profile of this patient with renal insufficiency. This situation represents the first report of using SC Midazolam as an injectable treatment for catatonia. More studies are needed to assess the clinical pertinence of SC Midazolam in the treatment of catatonia.
Concomitant necrotizing encephalitis and granulomatous meningoencephalitis in four toy breed dogs
Authors: Jasmin Nicole Nessler, Anna Oevermann, Marina Schawacht, Ingo Gerhauser, Ingo Spitzbarth, Sophie Bittermann, Frank Steffen, Martin Jürgen Schmidt, Andrea Tipold
Journal: Front Vet Sci (2022)
Keywords: canine (dog), granulomatous meningoencephalitis (gme), histopathology (hpe), inflammatory brain disease, meningoencephalitis of unknown origin (muo), necrotizing leukoencephalitis, necrotizing meningoencephalitis
MeSH terms: Case Reports

The term "meningoencephalitis of unknown origin" (MUO) describes a group of different encephalitides in dogs in which no infectious agent can be identified and a multifactorial etiology is suspected. Among others, genetic factors and unknown triggers seem to be involved. Included are necrotizing leukoencephalitis (NLE), necrotizing meningoencephalitis (NME), and granulomatous meningoencephalitis (GME). In this case series, we describe the histopathological findings of four toy breed dogs with focal or multifocal necrotizing encephalitis and mainly lymphocytic perivascular infiltrates on histopathological examination. At the same time, however, in all dogs, focal or multifocal high-grade angiocentric granulomatous inflammatory lesions were evident with focal histiocytic perivascular infiltrates in the brain. The former changes are typical for NLE and NME. In contrast, the latter changes are indicative of GME. This case series shows that the boundaries between the necrotizing and granulomatous variants of MUO might be smooth and suggests that NLE, NME, and GME are not as distinct as previously described. This finding could be a crucial piece of the puzzle in the study of the pathogenesis of MUO as individual susceptibility and specific triggers could be responsible for the manifestation of the different MUO subtypes.
CT findings of severe novel coronavirus disease (COVID-19): A case report of Heilongjiang Province, China
Authors: Ziao Wang, Huijie Jiang, Hao Jiang, Ruoshui Zheng, Ru Yi
Journal: Open Med (Wars) (2020)
Keywords: covid-19, ct findings, sars-cov-2, sars-cov-2 pneumonia, novel coronavirus pneumonia
MeSH terms: Case Reports

2019 novel coronavirus disease (COVID-19, previously known as novel coronavirus pneumonia) was first discovered in December 2019 and spread widely in China and all over the world in 2020. The initial symptoms of most patients include fever, cough, and fatigue. Dyspnea may occur with the progress of the disease, and acute respiratory distress syndrome may occur in severe cases. The CT manifestations of this disease are mainly ground-glass opacity (GGO) in the lung, which may be accompanied by patchy consolidation, and fibrous changes may appear in the lung at the later stage of the disease. Combined with typical clinical and imaging findings and positive nucleic acid test results, the disease can be diagnosed. We report the first case of novel coronavirus disease (COVID-19) in Heilongjiang Province, China. The patient was seriously ill, who felt that he suffered from fever, fatigue, cough, and expectoration and sought medical treatment, with a history of contact with Wuhan. The leukocyte count was normal, and the lymphocyte count was decreased. CT imaging showed large GGO and partial patchy consolidation in both lungs. The patient recovered and was discharged after 26 days of treatment. This study is helpful for early diagnosis and timely clinical management by mastering the typical imaging of novel coronavirus disease (COVID-19).
A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team
Authors: Elliott J Carande, Samuel J Bilton, Satish Adwani
Journal: Case Rep Pediatr (2017)
MeSH terms: Case Reports

Neonatal Marfan syndrome (nMFS) is a rare condition with a poor prognosis. It is genotypically and phenotypically distinct from the typical Marfan syndrome and carries a poorer prognosis. This case report describes the progression of a 14-month-old girl diagnosed with nMFS at 5 months of age. Her diagnosis followed the identification of a fibrillin-1 mutation (FBN1 gene, exon 26, chromosome 15), which is a common locus of nMFS. This patient developed severe cardiac complications resulting in congestive cardiac failure in early life and required major cardiac surgery. Since surgical intervention, our patient is still reliant on a degree of ventilator support, but the patient has gained weight and echocardiography has demonstrated improved left ventricular function and improved tricuspid and mitral valve regurgitation. Therefore, we argue the importance of a cautious multidisciplinary approach to early surgical intervention in cases of nMFS.
Nasolabial Cyst: A Case Report with Ultrasonography and Magnetic Resonance Imaging Findings
Authors: Ali Ocak, Suayip Burak Duman, Ibrahim Sevki Bayrakdar, Binali Cakur
Journal: Case Rep Dent (2017)
MeSH terms: Case Reports

Nasolabial cysts are uncommon nonodontogenic lesions that occur in the nasal alar region. These lesions usually present with asymptomatic swelling but can cause pain if infected. In this case report, we describe the inadequacy of conventional radiography in a nasolabial cyst case, as well as the magnetic resonance imaging (MRI) and ultrasonography (US) findings in a 54-year-old female patient.
Simultaneous acute appendicitis and ectopic pregnancy
Authors: Amal Ankouz, Abdelmalek Ousadden, Karim Ibn Majdoub, Ali Chouaib, Khalid Maazaz, Khalid Ait Taleb
Journal: J Emerg Trauma Shock (2009)
Keywords: acute appendicitis, ectopic pregnancy, human chorionic gonadotropin, laparoscopy, laparotomy, sonogram
MeSH terms: Case Reports

The acute abdomen in pregnancy is a surgical emergency. Ectopic pregnancy and appendicitis are two causes of acute abdomen in pregnancy. Difficulties in correctly identifying the cause of the pain can be hazardous to the patient and care needs to be taken in obtaining a prompt and accurate diagnosis enabling the most appropriate management. The case presented here underlies the pathogenesis of the simultaneous existence of these two conditions in a patient.
Uncommon Mixed Type I and II Choledochal Cyst: An Indonesian Experience
Authors: Fransisca J Siahaya, Toar J M Lalisang, Wifanto S Jeo, Arnold B H Simanjuntak, Benny Philippi
Journal: Case Rep Surg (2013)

Bile duct cyst is an uncommon disease worldwide; however, its incidence is remarkably high in Asian population, primarily in children. Nevertheless, the mixed type choledochal cysts are extremely rare especially in adults. A case report of a 20-year-old female with a history of upper abdominal pain that was diagnosed with cholecystitis with stone and who underwent laparoscopic cholecystectomy is discussed. Choledochal malformation was found intraoperatively. Magnetic resonance cholangiography (MRCP) and USG after first surgery revealed extrahepatic fusiform dilatation of the CBD; therefore, provisional diagnosis of type I choledochal cyst was made. Complete resection of the cyst was performed, and a mixed type I and II choledochal cyst was found intraoperatively. Bile duct reconstruction was carried out with Roux-en-Y hepaticojejunostomy. The mixed type I and II choledochal cysts are rare in adults, and this is the third adult case that has been reported. The mixed type can be missed on radiology imaging, and diagnosing the anomaly is only possible after a combination of imaging and intraoperative findings. Mixed type choledochal cyst classification should not be added to the existing classification since it does not affect the current operative techniques.
Case report: Undifferentiated sarcoma with multiple tumors involved in Lynch syndrome: Unexpected favorable outcome to sintilimab combined with chemotherapy
Authors: Jiaying Liu, Xiaona Chang, Guixiang Xiao, Jingmin Zhong, Bo Huang, Jiwei Zhang, Beibei Gao, Gang Peng, Xiu Nie
Journal: Front Oncol (2022)
Keywords: msh2, immune checkpoint inhibitor, lynch syndrome, mismatch repair deficiency, sintilimab, undifferentiated sarcoma
MeSH terms: Case Reports

Background:
Patients with Lynch syndrome are at an increased risk of developing simultaneous or metachronous tumors, while sarcomas have been occasionally reported. Sarcomas are generally not considered part of the common Lynch syndrome tumor spectrum. However, more and more studies and case reports suggested that sarcoma could be a rare clinical manifestation of Lynch syndrome, leading to new treatment strategies for sarcoma.
Case summary:
We report the case of a 74-year-old male patient with Lynch syndrome who had rectal mucinous adenocarcinoma and prostate adenocarcinoma and then developed undifferentiated sarcoma of the left neck two years later. Mismatch repair deficiency (dMMR) was confirmed by immunohistochemical staining for the mismatch repair proteins MSH2, MSH6, MLH1 and PMS2. The result of polymerase chain reaction (PCR) microsatellite instability (MSI) testing of sarcoma showed high-level microsatellite instability (MSI-H). Additionally, a pathogenic germline mutation in MSH2 (c.2459-12A>G) was detected by next-generation sequencing (NGS). Taking into account HE morphology, immunohistochemical phenotype, MSI status, NGS result, medical history and germline MSH2 gene mutation, the pathological diagnosis of left neck biopsy tissue was Lynch syndrome related undifferentiated sarcoma with epithelioid morphology. The patient has been receiving immunotherapy (sintilimab) combined with chemotherapy (tegafur, gimeracil and oteracil potassium capsules) and currently has stable disease. We also reviewed the literature to understand the association between sarcoma and Lynch syndrome.
Conclusion:
Sarcoma may now be considered a rare clinical manifestation of Lynch syndrome. Attention and awareness about the association between Lynch syndrome and sarcoma need to be increased. Therefore, timely detection of MMR proteins and validation at the gene level for suspicious patients are the keys to avoiding missed or delayed diagnosis and to identifying patients suited for immunotherapy, which may also help to provide appropriate genetic counseling and follow-up management for patients.
A Dual Case of Peritonitis and Central Nervous System Infection Caused by Nutritionally Variant Streptococcal Species
Authors: Sussi Vivar, Jennifer E Girotto, Thomas S Murray
Journal: Case Rep Infect Dis (2017)
MeSH terms: Case Reports

Nutritional variant streptococci (NVS) are difficult to identify bacteria that can cause invasive infections such as endocarditis and meningitis. NVS as a cause of peritonitis has not been routinely described. This case of NVS as the etiology of peritonitis associated with previous neurosurgery and ventriculoperitoneal (VP) shunt revision demonstrates its potential role as a significant pathogen in patients with peritonitis and VP shunts. Therapy consists of vancomycin plus a second agent but since there are no standards for susceptibility testing, clinical response remains the standard for determining the efficacy of treatment. When there is central nervous system (CNS) involvement it is important to include drugs with appropriate CNS penetration.
Diffuse Gonococcal Infection (DGI) in a Patient with Treatment-Refractory Acetylcholine Receptor Antibody-Positive (AChR+) Generalized Myasthenia Gravis (gMG) Treated with Eculizumab
Authors: Nakul Katyal, Latika Nirola, Naureen Narula, Raghav Govindarajan
Journal: Case Rep Neurol Med (2021)
MeSH terms: Case Reports

Patients receiving complement inhibitor, eculizumab, are at high risk for infections with encapsulated organisms such as Neisseria due to impaired opsonophagocytic activity. Impaired complement immunity may increase the risk for dissemination of asymptomatic Neisseria gonorrhoeae. Disseminated Gonococcal Infection (DGI) is a rare but potentially life-threatening complication associated with eculizumab. Physicians should obtain adequate sexual histories from the patients and educate them on safe sexual practices. Here, we describe a case of DGI in a 32-year-old African American female patient with acetylcholine receptor antibody-positive (AChR+) generalized myasthenia gravis (gMG), receiving eculizumab.
A Surgically Treated Case of Ureterovesical Amyloidosis of the Bladder in a Patient with Idiopathic Thrombocytopenia
Authors: Sung Han Kim, Weon Seo Park, Jae Young Joung, Kang Hyun Lee, Jinsoo Chung, Ho Kyung Seo
Journal: Case Rep Urol (2018)
MeSH terms: Case Reports

Idiopathic thrombocytopenia (ITP) is a bleeding disorder involving the destruction of platelets by the immune system. Systemic amyloidosis is another bleeding disorder involving amyloid deposits that create defects in coagulation and increased prothrombin and thrombin times. We report a 52-year-old man with ITP and new two-month-duration, painless gross hematuria without clot formation resulting in amyloidosis involving the ureterovesical area of the bladder. He had osteopenia, hypertension, and moderate thrombocytopenia due to ITP diagnosed 7 years previously. Cystoscopic examination with urine cytology and computed tomography imaging detected a 2-cm protruding solid bladder mass involving the left ureteral orifice and trigone and left mild hydroureteronephrosis, suggesting bladder cancer. Transurethral resection of the bladder mass was performed to confirm amyloidosis involvement in the ureterovesical junction of the bladder and ureter. Four weeks postoperatively, intermittent gross hematuria remained; hence, left ureteroneocystostomy was performed. Regular follow-up showed no signs of hematuria or intravesical recurrences for 14 months.
Case Report: Bone fragment in the third ventricle of a 22 year-old woman
Authors: Sunil Munakomi, Balaji Srinivas, Iype Cherian
Journal: F1000Res (2015)
Keywords: bone fragment, brain surgery, compound-depressed fracture

Here we present a very rare case of a woman with a bone fragment in the third ventricle of the brain following compound-depressed skull fractures due to a road traffic accident. There are only few case reports of bullets and textiloma being removed from the third ventricle. Following operative removal of the fragment, the patient was started on cortisol, mineralocorticoid and thyroid hormone replacement. However, the patient eventually died of the severe traumatic hypothalamic insult.
Retinal and Preretinal Hemorrhages in a Patient Receiving Hyper-CVAD Chemotherapy for T-Cell Acute Lymphoblastic Leukemia
Authors: Krishi Peddada, Stephanie J Weiss, Shaina Kumar, Deepika Malik
Journal: Case Rep Ophthalmol Med (2018)
MeSH terms: Case Reports

Hyperfractionated cyclophosphamide, vincristine, adriamycin, and dexamethasone (Hyper-CVAD) is an important chemotherapeutic regimen for acute lymphoblastic leukemia (ALL) and non-Hodgkin's lymphoma. We present a case of a 23-year-old male with T-cell ALL and visual acuity of 20/20 in the right eye and 20/25 in the left eye who developed significant changes in his vision after starting Hyper-CVAD therapy. The patient initially presented with cotton wool spots in the fundus shortly after starting the regimen. After going through the induction phase of chemotherapy, he had a sudden decline in his vision to light perception in the left eye. Posterior segment exam revealed retinal ischemia and multilayered hemorrhages in both eyes as well as a large preretinal hemorrhage obscuring the fovea in the left eye. Labs associated the appearance of these hemorrhages with a significant decrease in hemoglobin and a platelet count of 5 K/μL. A Nd:YAG laser applied in the left eye at the posterior hyaloid face allowed blood to drain into the vitreous cavity and brought the patient's visual acuity back to baseline. Hyper-CVAD is an aggressive chemotherapy regimen that can cause severe thrombocytopenia secondary to myelosuppression. Frequent retinal evaluations and timely intervention is advisable in these cases as extensive intraretinal hemorrhages may cause irreversible damage.
Target identification for stereotactic thalamotomy using diffusion tractography
Authors: Zsigmond Tamás Kincses, Nikoletta Szabó, István Valálik, Zsolt Kopniczky, Lívia Dézsi, Péter Klivényi, Mark Jenkinson, András Király, Magor Babos, Erika Vörös, Pál Barzó, László Vécsei
Journal: PLoS One (2012)
MeSH terms: Diffusion Tensor Imaging / methods, Neurosurgical Procedures / methods, Radiosurgery / methods, Radiotherapy Planning, Computer-Assisted / methods, Thalamus / surgery, Case Reports, Evaluation Study, Research Support, Non-U.S. Gov't, Adult, Brain Mapping / methods, Essential Tremor / diagnosis, Essential Tremor / surgery, Female, Humans, Imaging, Three-Dimensional / methods, Male, Middle Aged, Neurosurgical Procedures / standards, Observer Variation, Radiography, Radiosurgery / standards, Stress Disorders, Post-Traumatic / complications, Stress Disorders, Post-Traumatic / diagnosis, Stress Disorders, Post-Traumatic / surgery, Thalamus / diagnostic imaging, Tremor / diagnosis, Tremor / etiology, Tremor / surgery, Young Adult

Background:
Stereotactic targets for thalamotomy are usually derived from population-based coordinates. Individual anatomy is used only to scale the coordinates based on the location of some internal guide points. While on conventional MR imaging the thalamic nuclei are indistinguishable, recently it has become possible to identify individual thalamic nuclei using different connectivity profiles, as defined by MR diffusion tractography.
Methodology and principal findings:
Here we investigated the inter-individual variation of the location of target nuclei for thalamotomy: the putative ventralis oralis posterior (Vop) and the ventral intermedius (Vim) nucleus as defined by probabilistic tractography. We showed that the mean inter-individual distance of the peak Vop location is 7.33 mm and 7.42 mm for Vim. The mean overlap between individual Vop nuclei was 40.2% and it was 31.8% for Vim nuclei. As a proof of concept, we also present a patient who underwent Vop thalamotomy for untreatable tremor caused by traumatic brain injury and another patient who underwent Vim thalamotomy for essential tremor. The probabilistic tractography indicated that the successful tremor control was achieved with lesions in the Vop and Vim respectively.
Conclusions:
Our data call attention to the need for a better appreciation of the individual anatomy when planning stereotactic functional neurosurgery.