OpenMed/multicare-articles huggingface dataset:
Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema
Authors: Antoneicka L Harris, Patrick R Blackburn, John E Richter Jr, Jennifer M Gass, Thomas R Caulfield, Ahmed N Mohammad, Paldeep S Atwal
Journal: Case Rep Genet (2018)
MeSH terms: Case Reports

Chronic urticaria is a common condition characterized by recurrent hives lasting several weeks or months and is usually idiopathic. Approximately half of the individuals with chronic urticaria will present with episodes of angioedema that can be severe and debilitating. In this report, we describe a 47-year-old Hispanic male who presented initially for an evaluation of chronic hives following hospitalization due to hive-induced anaphylaxis. The individual had a history significant for urticaria and angioedema beginning in his early 30s. Interestingly, both the individual's 41-year-old sister and 12-year-old daughter were also affected with chronic urticaria and severe angioedema. Whole exome sequencing of the proband and several family members revealed a heterozygous variant of uncertain significance in exon 2 of TNFAIP3, denoted as c.65G>A (p.R22Q), in all affected members. Variants in TNFAIP3 have been associated with multiple autoimmune diseases, susceptibility to allergy and asthma, and periodic fever syndromes, suggesting that this variant could potentially play a role in disease.
F-18 Fluorodeoxyglucose Positron Emission Tomography/ Computed Tomography Findings of Isolated Gastric Tuberculosis mimicking Gastric Cancer and Lymphoma
Authors: Remzi A Akdogan, A Akdogan Halil Rakici, Serkan Güngör, Recep Bedir, Elif Akdogan
Journal: Euroasian J Hepatogastroenterol (2018)
Keywords: computed tomography, isolated gastric tuberculosis, positron emission tomography
MeSH terms: Case Reports

Introduction:
Tuberculosis (TB) infection is still a challenging health issue, especially in developing countries. Diagnosing extrapulmonary infections, especially isolated organ involvement, is difficult in most cases even with the radiological, endoscopic, and histopathological examinations done for accurate diagnosis. Here we describe a case of isolated gastric TB with specific F-18 fluorodeoxyglucose (FDG) positron emission tomography (PET)/computed tomography (CT) findings mimicking gastric cancer/ lymphoma.
Case report:
A 20-year-old male patient was admitted to our hospital with abdominal pain in the epigastric region, weight loss, and fever especially at nights for 2 months. Physical examination was normal. Hemoglobin was 9.6 gm/dL; the patient had iron deficiency anemia. Upper gastrointestinal (GI) endoscopy was suggestive of gastric ulcer mimicking malignancy. F-18 FDG PET/CT revealed multiple hypermetabolic malignant lymphadenopathies in the abdomen and diffuse gastric wall thickening as linitis plastica and multiple hypermetabolic peritoneal implants in the omentum. Exploratory laparotomy was done for tissue diagnosis and exploration of the peritoneum for TB infection, lymphoma, and Crohn's disease to make differential diagnosis. Histopathology revealed granulomatous lymphadenitis with granulomas including giant cells, suspecting TB. Patient was put on antituberculosis treatment (ATT). After treatment, the complaints resolved, and he gained weight. Fusion PET/CT exhibited a complete response to ATT with no residual disease.
Conclusion:
According to our knowledge, this is the first report about F-18 FDG PET/CT findings in the diagnosis of isolated gastric TB. F-18 FDG PET/CT may provide help in the diagnosis and follow-up of isolated gastric TB in challenging cases.How to cite this article: Akdogan RA, Rakici H, Güngör S, Bedir R, Akdogan E. F-18 Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography Findings of Isolated Gastric Tuberculosis mimicking Gastric Cancer and Lymphoma. Euroasian J Hepato-Gastroenterol 2018;8(1):93-96.
Sclerokeratoplasty as the Therapy for Corneal Perforation due to Exposure and Neurotrophic Keratopathy
Authors: Radoslaw Rozycki, Izabela Nowak-Gospodarowicz, Dominika Bialas, Rafal Pawlik, Marek Rekas
Journal: Case Rep Ophthalmol Med (2014)

A case report of exposure and neurotrophic keratopathy after acoustic neuroma surgery resulting in perforation if not managed appropriately and timely is presented. Sclerokeratoplasty on 360 degrees may be an effective treatment method of corneal perforation in complete anaesthetic cornea when the standard penetrating keratoplasty failed. At a 12-month follow-up, the patient is doing well. UCVA is 0.5, the IOP is normal, and the graft remains clear. Systemic immunosuppression is the main disadvantage of this method. Further investigation is needed to assess the effectiveness and safety of this method.
Persistent viremia in an immunocompetent patient with inherited chromosomally integrated HHV-6B
Authors: Michele Obeid, Inderdeep Gakhal, Philip J McDonald
Journal: Access Microbiol (2021)
Keywords: hhv-6, human herpesvirus, chromosomally integrated, viremia
MeSH terms: Case Reports

Human herpesvirus-6 (HHV-6), the virus which causes roseola, has traditionally been associated with benign and self-limited childhood illness. However, HHV-6 establishes lifelong latency and can reactivate in immunocompromised adult patients. In about 1% of cases, it integrates into the human genome as inherited chromosomally integrated HHV-6 (iciHHV-6). We report the case of a 70-year-old man presenting with altered mental status and agitation. His infectious workup revealed a cerebrospinal fluid sample positive for HHV-6 with virus detectable in the blood as well. He was subsequently treated with ganciclovir. HHV-6 viremia (DNAemia) persisted, and the antiviral medications were switched to foscarnet under the assumption of treatment failure due to drug resistance. After several admissions to the hospital for the same complaint, and after noticing that DNAemia persisted despite adequate treatment for HHV-6, infectious disease specialists ordered testing for chromosomally integrated virus. Test results confirmed the presence of iciHHV-6, explaining his consistently elevated serum viral load. Primary HHV-6 infection in adults causes a transient increase in viral load with resolution and clearance after a few weeks while iciHHV-6 is characterized by persistent detection of viral DNA at a high copy number. Individuals with iciHHV-6 can develop HHV-6 disease and are at increased risk for active viral replication when treated with immunosuppressive medications, but only mRNA testing, which is not widely available can differentiate between latent and active infection. This makes the decision to treat challenging in this patient population. When faced with a positive HHV-6 DNA result in the setting of equivocal symptoms, clinicians should consider the possibility of chromosomally integrated virus rather than drug-resistant virus in order to reduce exposure to potentially toxic antiviral medications.
An Autopsy Case of Rapidly Aggravated Clostridium perfringens Septicemia with Colorectal Cancer
Authors: Risako Kohya, Taichi Murai, Yudai Taguchi, Kyohei Sawai, Masaya Takehara, Masahiro Nagahama, Kazufumi Itaya, Yuta Koike, Ayana Endo, Yuji Ono, Atsushi Nagasaka, Shuji Nishikawa, Michio Nakamura
Journal: Case Rep Infect Dis (2022)
MeSH terms: Case Reports

This report presents a case of a 60-year-old man who was diagnosed with ascending colon cancer with metastases of the lymph nodes and multiple liver metastases. Three days before the introduction of the first chemotherapy, he visited our hospital due to high fever. The blood test revealed an increase in the inflammatory response, hepatobiliary enzyme level, lactate dehydrogenase (LDH) level, and renal function deterioration. Contrast-enhanced computed tomography (CT) showed a rapid progression of primary lesion and liver metastatic lesions. Treatment with 5-fluorouracil, leucovorin, and oxaliplatin and cetuximab (FOLFOX/Cmab) was initiated, and the patient was admitted to our hospital after the first day of chemotherapy. At midnight, he had chills, red urine, and rapid hypoxemia. The second blood test showed progression of anemia; increased total bilirubin, aspartate aminotransferase, and LDH levels; and decreased platelet and fibrinogen levels. The serum was red wine in color, indicating marked hemolysis. The respiratory condition rapidly deteriorated, and tracheal intubation was performed and transferred into the intensive care unit. However, blood oxygenation did not increase, and the patient died the next morning, 19 h after admission, despite intensive care. Postmortem CT showed intraperitoneal free air and gas retention in the liver tumor and portal vein system. Pathological autopsy revealed perforation in ascending colon cancer, many Gram-positive rods in the perforation site, dissemination of bacteria throughout the body, and diffuse pulmonary edema. Subsequently, blood cultures reported Clostridium perfringens (CP), which is a product of alpha-toxin. CP infection can cause rapid aggravation and sudden death. The physicians should be aware of this highly fatal infection, leading to immediate diagnosis and treatment.
Is Loop Ileostomy in Patients with Cecal Bascule a Viable Option?
Authors: Tushar Shetty, Tommy Ivanics, Hassan Nasser, Amalia Stefanou
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Background:
Cecal bascule, initially described in 1899 by Treves, is the rarest form of cecal volvulus and represents a phenomenon when a redundant and distended cecum folds anteriorly over the ascending colon causing an intestinal obstruction. Patients with cerebral palsy are at increased risk for this condition.
Case presentation:
We present a 28-year-old male with cerebral palsy, functionally dependent in all activities of daily living, who had undergone a loop ileostomy for cecal bascule. He then presented to our emergency department with a large loop ileostomy prolapse, which was the result of an inverted prolapsed cecum through the efferent ileostomy limb. He underwent a right hemicolectomy with end ileostomy and transverse mucous fistula creation through the previous ostomy site. He progressed well appropriately postoperatively and was discharged home.
Conclusions:
While cecal bascule is a rare form of bowel obstruction, patients with cerebral palsy are at an increased risk for this condition. The treatment options are numerous and are primarily surgical. Diverting loop ileostomy alone is not a recommended treatment. A high index of suspicion is warranted in all cases of large bowel obstruction to minimize risk of recurrence, morbidity, and mortality for patients afflicted by this condition.
A case of complicated silicosis with a complex clinical course in a glass manufacturing worker
Authors: Hee-Seok Yang, Jung-Il Kim, Byeong-Jin Ye, Tae-Jun Yoo, Sun-Woo Lee, Kap-Yeol Jung
Journal: Ann Occup Environ Med (2014)
Keywords: glass, silicosis, supraclavicular lymph node
MeSH terms: Case Reports

We reported a case of complicated silicosis that occurred in a glass manufacturing plant worker who had presumably been exposed to low-concentration free silica for almost 20 years. To the best of our knowledge this report is the first in the Republic of Korea. The physician's first impression was cancer since the enlargement of neck and supraclavicuar lymph nodes had clearly progressed and metastasis was suspected in ultrasonography. However, it turned out to be reactive hyperplasia and anthracosis. Although lung cancer was suspected and tests were performed in 2 hospitals due to repetitive cough and dyspnea, along with weight loss of approximately 10% over the course of 7 months, the patient was eventually diagnosed with complicated silicosis and pneumothorax occurred after 1 year. Herein, we report this case with a literature review.
Molecular Characterization of Mosaicism for a Small Supernumerary Marker Chromosome Derived from Chromosome Y in an Infertile Male with Apparently Normal Phenotype: A Case Report and Literature Review
Authors: Na An, Yang Yu, Qi Xi, Fagui Yue, Ruizhi Liu, Shibo Li, Ruixue Wang
Journal: Biomed Res Int (2019)
MeSH terms: Chromosomes, Human, Pair 11 / genetics, Infertility, Male / genetics, Mosaicism, Case Reports, Review, Adult, Genetic Markers / genetics, Humans, Male, Genetic Markers

Small supernumerary marker chromosomes (sSMCs), equal in size or smaller than chromosome 20 of the same metaphase, can hardly be identified through traditional banding technique. They are usually associated with intelligent disability, growth retardation, and infertility, but the genotype-phenotype correlations are still complicated for their complex origins and constitutions. Herein, we identified a 26-year-old Chinese infertile male who carried a mosaic sSMC and was diagnosed as severe oligospermia. The G-banding analysis initially described his karyotype as mos 47, XY, +mar[32]/46, XY[18]. The chromosomal microarray analysis results showed a 25.5 Mb gain in Yp11.31q11.23 and a 0.15 Mb loss in Yq12. Two SRY signals were discovered in the "seemingly" normal chromosome Y in both cell lines using SRY probe: one normal SRY was located on the distal tip of the short arm of chromosome Y while the other SRY was located on the terminal of long arm in the same chromosome Y. The sSMC(Y) was finally identified as der(Y) (pter ⟶ q11.23) (SRY-). To our knowledge, the chromosomal Y anomalies, SRY gene translocated from der(Y) (pter ⟶ q11.23) to qter of normal chromosome Y, were not reported before. Our findings indicated that the mosaic presence of sSMC(Y) may be the main cause of severe oligospermia although no other apparent abnormalities were observed in the proband. Further research on association between sSMC(Y) and spermatogenesis impairment should be investigated. It is recommended measures of traditional and molecular cytogenetic analysis should be taken to determine the origins and constitutions of sSMC so as to offer more appropriate genetic counseling for the infertile sSMC carriers.
Inefficacy or paradoxical effect? Uveitis in ankylosing spondylitis treated with etanercept
Authors: Bernd Raffeiner, Francesca Ometto, Livio Bernardi, Costantino Botsios, Leonardo Punzi
Journal: Case Rep Med (2014)

Ankylosing spondylitis (AS) is presented with axial and peripheral articular involvement. Uveitis is a severe and rather specific manifestation of AS. Biologics targeting tumor necrosis factor (TNF) α are effective on both articular and ocular manifestations of disease. The occurrence of uveitis in patients that never had eye involvement or the relapse of uveitis is described during anti-TNF α treatment. The frequency of these events is slightly higher during therapy with etanercept. The available TNF α blockers show different pharmacokinetics and pharmacodynamics yielding different biological effects. There is an ongoing debate whether uveitis during anti-TNF α has to be considered as paradoxical effect or an inadequate response to therapy. Here, we present a case report and review what the evidences for the two hypotheses are.
7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype
Authors: Emiy Yokoyama, Dennise Lesley Smith-Pellegrin, Silvia Sánchez, Bertha Molina, Alfredo Rodríguez, Rocío Juárez, Esther Lieberman, Silvia Avila, José Luis Castrillo, Victoria Del Castillo, Sara Frías
Journal: Mol Cytogenet (2017)
Keywords: 7p15 deletion, hoxa13, hand-foot-genital syndrome
MeSH terms: Case Reports

Background:
Hand-foot-genital syndrome (HFGS) is a rare condition characterized by congenital malformations in the limbs and genitourinary tract. Generally, this syndrome occurs due to point mutations that cause loss of function of the HOXA13 gene, which is located on 7p15; however, there are some patients with HFGS caused by interstitial deletions in this region.
Case presentation:
We describe a pediatric Mexican patient who came to the Medical Genetics Department at the National Institute of Pediatrics because he presented with genital, hand and feet anomalies, facial dysmorphisms, and learning difficulties. Array CGH reported a 12.7 Mb deletion that includes HOXA13.
Conclusions:
We compared our patient with cases of HFGS reported in the literature caused by a microdeletion; we found a minimum shared region in 7p15.2. By analyzing the phenotype in these patients, we suggest that microdeletions in this region should be investigated in all patients with clinical characteristics of HFGS who also present with dysplastic ears, mainly low-set implantation with a prominent antihelix, as well as a low nasal bridge and long philtrum.
Finding the Cause of Psychosis: A Challenging Case of Anti-NMDAR Encephalitis
Authors: Bhanu R Sabbula, Shravya Yemmanur, Raghavendra Sanivarapu, Deepthi Kagolanu, Ahmed Shadab
Journal: Case Rep Med (2020)
MeSH terms: Case Reports

An autoimmune response causing inflammation in the brain tissue is called autoimmune encephalitis. Autoantibodies directed against N-methyl-D-aspartate (NMDA) receptors cause a type of autoimmune encephalitis resulting in memory loss, confusion, and psychosis. A 28-year-old male with a history of schizophrenia, seizure disorder, and stroke presented with a 2-day history of bizarre behavior, restlessness, insomnia, agitation, and hallucinations. He was initially managed for acute psychosis without any improvement. Further workup for organic causes revealed positive NMDAR antibodies in both the cerebrospinal fluid and serum, confirming a diagnosis of autoimmune encephalitis. His condition later improved with steroids and intravenous immunoglobulins. This case signifies the importance of ruling out organic causes in patients with unexplained neuropsychiatric symptoms. NMDA encephalitis is more common in young females with underlying malignancies, especially ovarian teratomas. This case is unique, given the extremely rare occurrence of NMDA encephalitis in male patients without any malignancies.
Successful Separation of Omphalopagus Twins: A Case Report
Authors: Prashant S Patil, Paras Kothari, Abhaya Gupta, Geeta Kekre, K V Dikshit, Ravi Kamble, Shahaji Deshmukh
Journal: J Neonatal Surg (2016)
Keywords: conjoined twins, omphalopagus
MeSH terms: Case Reports

Omphalopagus twins are conjoined twins sharing part of gastrointestinal system and abdominal wall. These types of twins have best chances of survival if successfully separated. We report a case of successfully separated omphalopagus twins at day six of life.
Fixation of a Periprosthetic Intertrochanteric Hip Fracture below a Birmingham Hip Resurfacing
Authors: J Macdonald, A Robinson, I Brown
Journal: Case Rep Orthop (2014)

This case report involves a 56-year-old female (Mrs X) with a traumatic intertrochanteric hip fracture with subtrochanteric extension below a previous Birmingham hip resurfacing. Periprosthetic fractures following hip resurfacing are usually subcapital and treated with a revision or conservative management. We present an unusual surgical problem with an interesting solution stabilising the fracture using a proximal femoral locking compression plate (LCP). Eight months following surgery the patient is able to walk pain free and there is good fixation and stability.
Quadricuspid aortic valve visualized by three-dimensional transthoracic echocardiography
Authors: Eser Acar, Tayfun Sahin, Irem Yılmaz, Umut Celikyurt
Journal: Case Rep Cardiol (2011)
MeSH terms: Case Reports

Quadricuspid aortic valve is a rare congenital anomaly that may cause aortic regurgitation. A 77-year-old male patient was referred to our clinic with complaints of stable angina pectoris. We report a case of a quadricuspid aortic valve diagnosed by 3-dimentional transthoracic echocardiography.
Surgical Outcomes in Macular Telangiectasia Type 2-Related Macular Holes: A Report on Four Patients
Authors: Kinza T Ahmad, Joseph Chacko, Ahmed B Sallam, David B Warner, Sami H Uwaydat
Journal: Case Rep Ophthalmol Med (2020)
MeSH terms: Case Reports

Introduction:
The few published studies that exist on the surgical outcomes of full-thickness macular hole (FTMH) repair in Macular Telangiectasia (MacTel) Type 2 report poor rates of hole closure of around 30%. This study is the largest case series of patients with FTMH in MacTel Type 2 and describes an 80% hole closure rate.
Purpose:
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Aim:
To describe the outcomes of four patients who underwent surgery for FTMH associated with MacTel Type 2.
Methods:
A retrospective review of clinical, surgical, and imaging data of five eyes in four patients with MacTel Type 2 FTMH who underwent pars plana vitrectomy (PPV) with internal limiting membrane (ILM) peeling and 30% SF6 or 15% C3F8 gas tamponade within 3-9 months of initial vision decline.
Results:
Visual acuity (VA) at the time of surgery ranged from 20/50 to 20/200. Successful hole closure was achieved in four out of five eyes, and final VA ranged from 20/20 to 20/40 at follow-up visits greater than 20 months postoperatively. The single eye that did not achieve hole closure had a final VA of 20/60.
Conclusion:
Our case series describes higher hole closure rates and better final VA than previously published reports for macular hole surgery in patients with MacTel Type 2 FTMH.
Antenatal Bartter's syndrome with sensorineural deafness
Authors: R P Bhamkar, A Gajendragadkar
Journal: Indian J Nephrol (2009)
Keywords: antenatal, bartter's syndrome, sensorineural deafness
MeSH terms: Case Reports

Bartter's syndrome is a group of inherited, salt-losing tubulopathies presenting as metabolic alkalosis with normotensive hyperreninemia and hyperaldosteronism. We report here the first case of a neonate with bilateral, sensorineural deafness, a variant of antenatal Bartter's syndrome from an Indian community.
Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report
Authors: Sebastián Castro, Franco G Brunello, Gabriela Sansó, Paula Scaglia, María Esnaola Azcoiti, Agustín Izquierdo, Florencia Villegas, Ignacio Bergadá, María Gabriela Ropelato, Marcelo A Martí, Rodolfo A Rey, Romina P Grinspon
Journal: Front Pediatr (2022)
Keywords: amh, gnrh, kallmann syndrome, hyposmia, puberty, testosterone
MeSH terms: Case Reports

Pubertal delay in males is frequently due to constitutional delay of growth and puberty, but pathologic hypogonadism should be considered. After general illnesses and primary testicular failure are ruled out, the main differential diagnosis is central (or hypogonadotropic) hypogonadism, resulting from a defective function of the gonadotropin-releasing hormone (GnRH)/gonadotropin axis. Ciliopathies arising from defects in non-motile cilia are responsible for developmental disorders affecting the sense organs and the reproductive system. WDR11-mediated signaling in non-motile cilia is critical for fetal development of GnRH neurons. Only missense variants of WDR11 have been reported to date in patients with central hypogonadism, suggesting that nonsense variants could lead to more complex phenotypes. We report the case of a male patient presenting with delayed puberty due to Kallmann syndrome (central hypogonadism associated with hyposmia) in whom the next-generation sequencing analysis identified a novel heterozygous base duplication, leading to a frameshift and a stop codon in the N-terminal region of WDR11. The variant was predicted to undergo nonsense-mediated decay and classified as probably pathogenic following the American College of Medical Genetics and Genomics (ACMG) criteria. This is the first report of a variant in the WDR11 N-terminal region predicted to lead to complete expression loss that, contrary to expectations, led to a mild form of ciliopathy resulting in isolated Kallmann syndrome.