OpenMed/multicare-articles huggingface dataset:
Metacognitive therapy (MCT+) in patients with psychosis not receiving antipsychotic medication: A case study
Authors: Ryan P Balzan, Cherrie Galletly
Journal: Front Psychol (2015)
Keywords: cbt, cognitive bias, delusions, psychotherapy, schizophrenia
MeSH terms: Case Reports

Background:
Psychotherapies for psychosis typically aim to develop an awareness of the implausible content of a delusion or target the underlying cognitive biases (i.e., problematic thinking styles, such as hasty decisions and illusory control) that foster and maintain delusional beliefs. A recently designed individual-based treatment entitled metacognitive therapy (MCT+) combines these two approaches. Emerging evidence suggests individualized MCT+, when used concurrently with antipsychotic medication, may be an effective psychological treatment for reducing delusional symptoms. However, it remains to be tested whether MCT+ can be effective in patients with active delusions who are not currently receiving psychotropic drugs.
Method:
We present two cases (one patient with schizophrenia and the other with delusional disorder) experiencing active delusions who underwent 4-weeks of intensive MCT+, without concurrent antipsychotic medication (minimum 6-months unmedicated). Baseline and 6-week follow-up data are presented on a variety of measures assessing delusion symptom severity (i.e., PANSS, PSYRATS, SAPS), clinical insight, and cognitive bias propensity.
Results:
After 4-weeks of MCT+, both patients showed substantial reduction in delusional symptoms, reported improved clinical insight, and were less prone to making illusory correlations.
Conclusions:
The presented case studies provide preliminary evidence for the feasibility of MCT+ in treating patients not taking, or resistant to, antipsychotic medication.
Different Association of Human Papillomavirus 16 Variants with Early and Late Presentation of Cervical Cancer
Authors: Ana Alfaro, Eligia Juárez-Torres, Ingrid Medina-Martínez, Norma Mateos-Guerrero, Maura Bautista-Huerta, Edgar Román-Bassaure, Nicolás Villegas-Sepúlveda, Jaime Berumen
Journal: PLoS One (2016)
MeSH terms: Adenocarcinoma / virology, Carcinoma, Squamous Cell / virology, Human papillomavirus 16 / isolation & purification, Papillomavirus Infections / epidemiology, Uterine Cervical Dysplasia / virology, Uterine Cervical Neoplasms / virology, Adenocarcinoma / diagnosis, Adenocarcinoma / pathology, Adult, Age Factors, Aged, Aged, 80 and over, Base Sequence, Carcinoma, Squamous Cell / diagnosis, Carcinoma, Squamous Cell / pathology, DNA, Viral / genetics, Female, Genetic Variation, Human papillomavirus 16 / classification, Human papillomavirus 16 / genetics, Humans, Mexico / epidemiology, Middle Aged, Papillomavirus Infections / virology, Risk Factors, Sequence Analysis, DNA, Uterine Cervical Dysplasia / diagnosis, Uterine Cervical Dysplasia / pathology, Uterine Cervical Neoplasms / diagnosis, Uterine Cervical Neoplasms / pathology, Young Adult, DNA, Viral

The median age of cervical cancer (CC) presentation coincides with the mean age of menopause presentation (49 years) in Mexico. Here, we investigated the association between different HPV16 variants and early (≤ 49 years) or delayed (≥ 50 years) CC presentation. We conducted a case-case study that included 462 CCs, 386 squamous cell carcinomas (SCC), 63 adenocarcinomas (ACC), and 13 additional cell types. Variants were identified by PCR and DNA sequencing. The risk conferred by each variant for developing CC earlier than 50 years was analyzed using a univariate logistic regression model considering old-aged patients (≥ 50 years) and non-HPV16 cases as the reference variables. Overall, the frequency of HPV16 was 50.9%, and the only identified variants were the European A1/2 (31.2%) and the Asian-American D2 (10.8%), and D3 (8.9%). D2 was mainly associated with ≤ 49-year-old patients (15.9%); A1/2 was uniformly distributed between the two age groups (~31%), whereas D3 increased with age to a frequency of 11.8% in the older group. Only the D2 variant conferred a 3.3-fold increase in the risk of developing CC before 50 years of age (OR = 3.3, 95% CI = 1.7-6.6, p < 0.001) in relation with non-HPV16 cases. Remarkably, this risk was higher for ACC (OR = 6.0, 95% CI = 1.1-33, p < 0.05) than for SCC (OR = 2.8, 95% CI = 1.3-5.9, p < 0.01). Interestingly, when analyzing only the HPV16-positive CC, D2 increases (OR = 2.5, 95% CI = 1.2-5, p < 0.05) and D3 decreases (OR = 0.45, 95% CI 0.2-0.9, p < 0.05) the risk to develop CC before 50 years old in relation with A1/2 variant. These results indicated that D2 variant is associated with early and D3 with delayed CC presentation, whereas A1/2 variant was uniformly distributed between the two age groups.
Splenic hematoma may present as large bowel obstruction: A case report
Authors: Christine Kolwitz, Christopher Esposito, Caitlin Gauvin, Vinaya Gaduputi, Brian Chiong, Tagore Sunkara, Gerard A Baltazar
Journal: Int J Surg Case Rep (2019)
Keywords: bowel obstruction, case report, colon, spleen, trauma

Introduction:
Large bowel obstruction (LBO) warrants prompt evaluation and management. Although causes of LBO are most commonly intrinsic to the colon (e.g. malignancy, diverticular stricture, intussusception or volvulus), rare extrinsic etiologies exist. An extremely rare extrinsic etiology of LBO described only once, is compressive splenic hematoma.
Presentation of case:
A 64-year-old female presented to the emergency department complaining of two days of diffuse abdominal pain and distension, watery diarrhea and nausea subsequent to a mechanical fall to her left side. Computed tomography demonstrated a grade 3 splenic hematoma with active extravasation, causing extrinsic compression and obstruction of the colon. Embolization of the splenic artery was performed, and non-operative LBO management resulted in resumption of normal bowel function after six days.
Discussion:
To our knowledge, the only other case of colonic compression by splenic hematoma (a case report in the radiology literature from 1994) describes a 62-year-old male whose symptoms similarly spontaneously resolved. Increasing frequency of non-operative management of splenic trauma may result in increased frequency of splenic hematoma complications. Physicians and surgeons who treat LBO should be aware of this rare etiology and its potential for non-operative management.
Conclusion:
Our case demonstrates the importance of considering splenic hematoma as an etiology of LBO, particularly in the setting of trauma and that management of this entity can be successfully non-operatively.
Diagnosis of pulmonary leiomyosarcoma extending into the main bronchus using repeated transbronchial cryobiopsy
Authors: Shinya Tsukamoto, Takamasa Kitajima, Satoshi Marumo, Motonari Fukui
Journal: Respirol Case Rep (2022)
Keywords: lung neoplasms, proton therapy, pulmonary leiomyosarcoma, transbronchial biopsy, transbronchial cryobiopsy
MeSH terms: Case Reports

The diagnosis of pulmonary leiomyosarcoma using bronchoscopy is difficult, and surgical resection is often performed for definitive diagnosis and curative therapy. We report a case of pulmonary leiomyosarcoma, successfully diagnosed using repeated transbronchial cryobiopsy (TBCB). A 69-year-old-woman was found to have an oval mass in the left hilar region extending into the left main bronchus on computed tomography (CT). All transbronchial biopsy specimens were necrotic, but repeated TBCB removed the necrotic tissue from the tumour and finally led to the diagnosis of pulmonary leiomyosarcoma. Proton therapy was administered, which caused shrinkage of the tumour. Thus, TBCB is useful for definitive diagnosis of leiomyosarcoma without surgical biopsy. Repeated TBCB can reduce tumour volume, eliminate atelectasis, and reduce the extent of radiotherapy exposure.
Calcified right atrial thrombus in HIV infected patient
Authors: Julius Chacha Mwita, Monkgogi Goepamang, Jack Joseph Mkubwa, Teeluck Kumar Gunness, Deshmukh Reebye, Kelebogile Motumise
Journal: Pan Afr Med J (2013)
Keywords: botswana, calcified right atrial thrombus, pulmonary embolism
MeSH terms: Calcinosis / complications, HIV Infections / complications, Heart Atria, Heart Diseases / complications, Thrombosis / complications, Case Reports, Adult, Female, Humans

Calcified right atrial thrombi are rare cardiac masses that may be complicated by pulmonary embolism. Although they can be discovered by a transthoracic echocardiography, they may need histological examination to differentiate them from other cardiac masses. We report a case of a 44-year-old woman who presented with a calcified right atrial thrombus and progressive dyspnoea.
Rare inheritance of Leri-Weill Syndrome due to crossover of short stature Homeobox Gene (SHOX) Deletions between X and Y Chromosomes: a case report
Authors: Marisa Censani, Kwame Anyane-Yeboa, Ronald Wapner, Erica Spiegel, Edwin Guzman, Sharon E Oberfield
Journal: Int J Pediatr Endocrinol (2013)
Keywords: leri-weill syndrome, madelung deformity, pseudoautosomal region 1, shox, short stature
MeSH terms: Case Reports

Background:
Leri-Weill syndrome (LWS) is a genetic disorder caused by deletions or mutations in the SHOX gene or by deletions downstream of the gene and is classically characterized by short stature, mesomelic shortening of forearms and legs, and Madelung deformity. Correct identification of short stature homeobox-containing gene (SHOX) deficiency in children with growth problems is vital for appropriate initiation of growth hormone therapy.
Method:
We report a phenotypically normal 23 day old male infant born to a father diagnosed with Leri-Weill syndrome at age 12 years with a documented SHOX deletion on his X chromosome. The patient's fetal long bones had been found to be about three weeks delayed in growth on prenatal ultrasound during the second trimester.
Results:
The infant underwent genetic evaluation at 23 days of life and was found to have a SHOX deletion on Yp11.32 identified using single nucleotide polymorphism microarray (SNP) analysis and confirmed by FISH using a SHOX gene probe.
Conclusion:
We report the case of a male infant diagnosed with Leri-Weill syndrome with an unusual documented inheritance between father and son due to crossover between X and Y chromosomes during paternal meiosis. Our case is the youngest patient in literature documented by FISH analysis to have an X to Y chromosome transfer and the first of these patients diagnosed prior to onset of short stature or Madelung deformity. Our patient was identified prior to growth failure and can now be monitored for growth abnormalities with the ability to implement growth augmentation therapy without delay. Our case highlights the importance of advising affected SHOX patients of risks to future offspring and supports screening off-spring of parents carrying SHOX abnormalities regardless of sex.
A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant
Authors: Alexandre Bolze, Avinash Abhyankar, Audrey V Grant, Bhavi Patel, Ruchi Yadav, Minji Byun, Daniel Caillez, Jean-Francois Emile, Marçal Pastor-Anglada, Laurent Abel, Anne Puel, Rajgopal Govindarajan, Loic de Pontual, Jean-Laurent Casanova
Journal: PLoS One (2012)
MeSH terms: Frameshift Mutation / genetics, Histiocytosis / genetics, Nose Diseases / genetics, Nucleoside Transport Proteins / genetics, RNA, Untranslated / genetics, Sequence Deletion, Case Reports, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Adult, Female, Humans, Male, Pedigree, Phenotype, Protein Biosynthesis / genetics, RNA Isoforms / genetics, RNA Splice Sites / genetics, Severity of Illness Index, Siblings, Young Adult, Nucleoside Transport Proteins, RNA Isoforms, RNA Splice Sites, RNA, Untranslated, SLC29A3 protein, human

We investigated two siblings with granulomatous histiocytosis prominent in the nasal area, mimicking rhinoscleroma and Rosai-Dorfman syndrome. Genome-wide linkage analysis and whole-exome sequencing identified a homozygous frameshift deletion in SLC29A3, which encodes human equilibrative nucleoside transporter-3 (hENT3). Germline mutations in SLC29A3 have been reported in rare patients with a wide range of overlapping clinical features and inherited disorders including H syndrome, pigmented hypertrichosis with insulin-dependent diabetes, and Faisalabad histiocytosis. With the exception of insulin-dependent diabetes and mild finger and toe contractures in one sibling, the two patients with nasal granulomatous histiocytosis studied here displayed none of the many SLC29A3-associated phenotypes. This mild clinical phenotype probably results from a remarkable genetic mechanism. The SLC29A3 frameshift deletion prevents the expression of the normally coding transcripts. It instead leads to the translation, expression, and function of an otherwise noncoding, out-of-frame mRNA splice variant lacking exon 3 that is eliminated by nonsense-mediated mRNA decay (NMD) in healthy individuals. The mutated isoform differs from the wild-type hENT3 by the modification of 20 residues in exon 2 and the removal of another 28 amino acids in exon 3, which include the second transmembrane domain. As a result, this new isoform displays some functional activity. This mechanism probably accounts for the narrow and mild clinical phenotype of the patients. This study highlights the 'rescue' role played by a normally noncoding mRNA splice variant of SLC29A3, uncovering a new mechanism by which frameshift mutations can be hypomorphic.
Utility of MYD88 in the Differential Diagnosis and Choice of Second-Line Therapy in a Case of Nonsecretory Lymphoplasmacytic Lymphoma versus Free Light Chain Waldenstrom's Macroglobulinemia
Authors: D Kazmierski, M L Palomba, C Barsigian
Journal: Case Rep Hematol (2017)
MeSH terms: Case Reports

The MYD88 L265P somatic variant (MYD88) has a high prevalence in Waldenstrom's Macroglobulinemia (WM), a form of lymphoplasmacytic lymphoma (LPL) associated with monoclonal IgM. Although the role of MYD88 in WM was initially reported in 2012, it was not until 2016 that MYD88 testing was included in the National Cancer Care Network (NCCN) Guidelines. We present a case illustrating the utility of MYD88 status in distinguishing atypical forms of WM from marginal zone lymphoma (MZL) and in selecting second-line therapy with ibrutinib. In 2012, a 64-year-old male presented with dyspnea on exertion, a hemoglobin of 5.6 g/dL, a platelet count of 86,000, and monoclonal IgM kappa on serum immunofixation but no detectable M-spike. Bone marrow biopsy revealed 95% monoclonal B-lymphocytes with lymphoplasmacytic differentiation favoring a diagnosis of LPL/WM over MZL, with a favorable response to chemotherapy. This diagnosis was called into question 3 years later following relapse, and MZL was favored based on the lack of MYD88 mutation. One year later, however, repeat bone marrow biopsy detected the MYD88 mutation and therapy with ibrutinib yielded a favorable response. The distinction between certain lymphomas can be problematic and in this case MYD88 was helpful in clarifying a diagnosis of atypical LPL/WM from MZL and in selecting effective second-line therapy.
Spermatic vein thrombosis with lupus anticoagulant, a cause of acute inguinal pain: a case report
Authors: Mohammed Aynaou, Tarik Mhanna, Amine Elhoumaidi, Paapa Dua Boateng, Ali Barki
Journal: Pan Afr Med J (2020)
Keywords: spermatic vein, lupus anticoagulant, thrombosis
MeSH terms: Acute Pain / etiology, Lupus Coagulation Inhibitor / blood, Venous Thrombosis / diagnosis, Case Reports, Anticoagulants / administration & dosage, Heparin / administration & dosage, Humans, Male, Ultrasonography, Doppler, Veins, Venous Thrombosis / drug therapy, Anticoagulants, Lupus Coagulation Inhibitor, Heparin

Patients with lupus anticoagulants are at high risk of systemic arterial and venous thrombosis and arterial stroke. We present an unusual case of a young man presenting inguinal pain. Doppler ultrasound revealed spermatic vein thrombosis on the left side. Hematologic workup revealed positive lupus anticoagulant. The patient was treated with therapeutic heparin.
Infected Urachal Cyst Mimicking Urachal Carcinoma: A Rare Cause of Lower Abdominal Tenderness
Authors: Sami Marzouki, Bert Geerts, Jesse Marrannes
Journal: J Belg Soc Radiol (2023)
Keywords: urachal cyst, urachal remnants
MeSH terms: Case Reports

Teaching Point: Infected urachal cysts are a rare cause of abdominal complaints and can be accurately diagnosed by abdominal ultrasound and computed tomography (CT).
Wide Resection, Extracorporeal Radiotherapy, Ipsilateral Vascularized Fibula Transposition, and Internal Fixation in a Case of Tibia Diaphyseal Ewing's Sarcoma
Authors: Recep Ozturk, Muzaffer Altundağ
Journal: Cureus (2023)
Keywords: ewing’s sarcoma, extracorporeal radiotherapy, free vascularized graft, ipsilateral graft, novel technique
MeSH terms: Case Reports

A 24-year-old female patient was referred to our hospital with the diagnosis of Ewing's sarcoma localized in the left distal tibia. Neoadjuvant chemotherapy was completed for the patient who had localized disease. En-bloc resection of the tumor segment in the diaphyseal tibia, intraoperative extracorporeal radiotherapy, and then re-implantation of the segment after clearing the tumor were performed. Transfer of the ipsilateral pedicled fibula to the medulla of the irradiated segment was performed. As far as we know, the simultaneous application of extracorporeal radiotherapy and the re-implantation method after resection of the tibial tumoral segment and the transfer of the ipsilateral fibula with its pedicle has not been previously reported in the literature. In this case, this new technique was accompanied by a satisfactory result.
Severe Anaplasmosis presenting as possible CVA: Case report and 3-year Anaplasma infection diagnosis data is based on PCR testing and serology
Authors: Yasser Eldaour, Rahman Hariri, Mohamed Yassin
Journal: IDCases (2021)
Keywords: anaplasma, seasonal variation, ticks
MeSH terms: Case Reports

Introduction:
Anaplasmosis is a tick-borne illness caused by Anaplasma phagocytophilum. A review of CDC reports showed an increase in Anaplasmosis, with 1,193 cases reported in 2009 compared to 5,672 cases reported in 2017, with the majority of cases between May and October. Neurologic manifestations are uncommon.
Case:
A 72-year-old male presented in August with acute left-sided weakness. Patient was found to have an acute kidney injury (creatinine 5.3 mg/dL), thrombocytopenia (platelet count 25,000/mL), and rhabdomyolysis (CPK 25,000 units/L). Workup for an acute stroke was negative. Peripheral blood smears showed Anaplasma neutrophil inclusions in >30 % of the buffy coat prep. PCR testing was positive for Anaplasmosis. He was treated with doxycycline for 10 days, with improvement within 48 h. He was discharged home after a 13-day hospital course with no residual neurological deficits.A review of our medical system between January 1st, 2016 and December 31st, 2018 revealed 20 cases of Anaplasmosis. All cases presented between May and December and had fever of unclear etiology, but only our case presented with stroke-like symptoms. All cases involved people living in heavily wooded areas, with a mean age of 70 years.
Discussion:
The typical presentation of Anaplasmosis is a nonspecific febrile illness with leukopenia and thrombocytopenia. Although headache is common, stroke-like symptoms are a rare but known complication. Elderly and immunocompromised patients living in heavily wooded areas are at higher risk for Anaplasmosis. Delayed diagnosis was common (55 % of case review) and associated with worse prognosis.
Benign and malignant ovarian steroid cell tumors, not otherwise specified: case studies, comparison, and review of the literature
Authors: Wei Jiang, Xiang Tao, Fang Fang, Shaofen Zhang, Congjian Xu
Journal: J Ovarian Res (2013)

Ovarian steroid cell tumors, not otherwise specified (NOS) are rare sex cord-stromal tumors of the ovary with malignant potential. So far only a few cases were reported in English literature through the Pubmed search. Here we report two cases of such tumor, one was benign (first case underwent laparoscopic cystectomy) and the other was malignant (died 10 months later after initial diagnosis), both presented with amenorrhea and clinical signs or symptoms of virilization. In malignant case, we provided evidence (tumor embolus) in addition to the reported five characteristics associated with malignancy. On further evaluation, laboratory investigations revealed hyperandrogenism in the male range, while follicle stimulating hormone (FSH) and luteinising hormone (LH) levels were within normal limits. Various aspects of the presentation, diagnosis, and treatment of these tumors are discussed.
A Case of Iron Deficiency Anemia with Co-existing Hb Fontainebleau
Authors: Abhishek Purohit, Mukul Aggarwal, Roshan B Colah, Anita H Nadkarni, Hara P Pati
Journal: Mediterr J Hematol Infect Dis (2014)
MeSH terms: Case Reports

Hb Fontainebleau is a rare alpha chain variant in the Indian population which generates an unknown peak on hemoglobin HPLC study and does cause diagnostic difficulty to those who are not acquainted with this entity. We present a case of Hb Fontainebleau, an eighteen year old patient who presented with symptoms related to anemia to our department and unknown peak observed in HPLC plots lead us to family study and molecular characterization for this case.
Toxic epidermal necrosis associated with afatinib: A case report and literature review
Authors: Wei Yang, Yansong Lu, Ze Wu, Jun Niu
Journal: Front Oncol (2023)
Keywords: afatinib, cutaneous adverse drug reactions, non-small cell lung cancer, toxic epidermal necrolysis, tyrosine kinase inhibitor
MeSH terms: Case Reports

Objective:
To report a case of afatinib-induced toxic epidermal necrosis (TEN), in a patient with metastatic non-small cell lung cancer (NSCLC) and compare these findings with that of evaluate similarities and differences to other cases reported in the literature.
Methods:
With use of the algorithm of drug causality for epidermal necrolysis (ALDEN), the effects of afatinib were evaluated in a NSCLC patient who developed TEN. In addition, previous case reports on this topic were included to provide a review of patients' clinical characteristics, treatment regimens and therapy outcomes in response to afatinib treatment.
Results:
In our case, toxic epidermal necrolysis was observed at five days after afatinib therapy, while other Stevens-Johnson syndrome/toxic epidermal necrolysis responses, as associated with afatinib, did not seem to be induced until a latency period of over thirty days post-afatinib. Treatment with corticosteroids resulted in significant improvements of these clinical symptoms, and eventually to a complete remission.
Conclusion:
Afatinib can result in grade four cutaneous adverse effects like SJS/TEN, with an uncertain latency period. The skin lesions which appear during this period of afatinib treatment should be closely monitored.