OpenMed/multicare-articles huggingface dataset:
The experience of patients with schizophrenia treated with repetitive transcranial magnetic stimulation for auditory hallucinations
Authors: Priya Subramanian, Amer Burhan, Luljeta Pallaveshi, Abraham Rudnick
Journal: Case Rep Psychiatry (2013)

Introduction. Auditory hallucinations are a common symptom experience of individuals with psychotic disorders and are often experienced as persistent, distressing, and disruptive. This case series examined the lived experiences of four individuals treated (successfully or unsuccessfully) with low-frequency (1 Hz) rTMS for auditory hallucinations. Methods. A phenomenological approach was used and modified to involve some predetermined data structuring to accommodate for expected cognitive impairments of participants and the impact of rTMS on auditory hallucinations. Data on thoughts and feelings in relation to the helpful, unhelpful, and other effects of rTMS on auditory hallucinations, on well-being, functioning, and the immediate environment were collected using semistructured interviews. Results. All four participants noted some improvements in their well-being following treatment and none reported a worsening of their symptoms. Only two participants noted an improvement in the auditory hallucinations and only one of them reported an improvement that was sustained after treatment completion. Conclusion. We suggest that there are useful findings in the study worth further exploration, specifically in relation to the role of an individual's acceptance and ownership of the illness process in relation to this biomedical intervention. More mixed methods research is required to examine rTMS for auditory hallucinations.
Case Report: Progressive central conducting lymphatic abnormalities in the RASopathies. Two case reports, including successful treatment by MEK inhibition
Authors: Kristiana Gordon, Matthew Moore, Malou Van Zanten, Julian Pearce, Maxim Itkin, Brendan Madden, Lakshmi Ratnam, Peter S Mortimer, Rani Nagaraja, Sahar Mansour
Journal: Front Genet (2022)
Keywords: chylopericardium, chylothorax, chylous, genital oedema, lymphedema, lymphoedema, noonan syndrome
MeSH terms: Case Reports

The RASopathies are a group of genetic conditions resulting from mutations within the RAS/mitogen-activated protein kinase (RAS-MAPK) pathway. Lymphatic abnormalities are commonly associated with these conditions, however central conducting lymphatic abnormalities (CCLA) have only recently been described. CCLAs may be progressive and can result in devastating systemic sequelae, such as recurrent chylothoraces, chylopericardium and chylous ascites which can cause significant morbidity and even mortality. Improvements in imaging modalities of the central lymphatics have enhanced our understanding of these complex abnormalities. Management is challenging and have mainly consisted of diuretics and invasive mechanical drainages. We describe two adult males with Noonan syndrome with a severe and progressive CCLA. In one patient we report the therapeutic role of targeted molecular therapy with the MEK inhibitor 'Trametinib', which has resulted in dramatic, and sustained, clinical improvement. The successful use of MEK inhibition highlights the importance of understanding the molecular cause of lymphatic abnormalities and utilising targeted therapies to improve quality of life and potentially life expectancy.
Central Pain Mimicking Trigeminal Neuralgia as a Result of Lateral Medullary Ischemic Stroke
Authors: Abinayaa Ravichandran, Kareem S Elsayed, Hussam A Yacoub
Journal: Case Rep Neurol Med (2019)
MeSH terms: Case Reports

Background:
Central pain mimicking trigeminal neuralgia (TN) as a result of lateral medullary infarction or Wallenberg syndrome has been rarely reported.
Case report:
We discuss a patient who presented with a lateral medullary infarct and shortly after developed facial pain mimicking TN. We also elaborate on the anatomical pathway of the trigeminal nerve explaining facial pain as a result of a lateral medullary lesion.
Discussion:
Clinicians should be aware of this typical complication of lateral medullary infarct in order to attain proper management and work-up.
The impact of immunotherapies on COVID-19 case fatality rates during the US vaccination campaign: a multidisciplinary open data analysis using FDA Adverse Event Reporting System and Our World in Data
Authors: Anke Salmen, Stefanie Marti, Andreas G F Hoepner, Andrew Chan, Robert Hoepner
Journal: Front Pharmacol (2023)
Keywords: covid-19, faers, sars-cov-2, immunotherapy, mortality, our world in data, vaccination sars-cov-2

Introduction: Patients under immunotherapies were excluded from the pivotal trials of vaccinations against the severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2), and no population-level data on disease outcomes such as case fatality rates in relation to vaccination coverage exist. Our study aims to fill this gap by investigating whether CFRs in patients with immunotherapies decrease with increasing vaccination coverage in the total population. Methods: We combined aggregated open source data on COVID-19 vaccination coverage from "Our World in Data" with publicly available anonymized COVID-19 case reports from the FDA Adverse Event Reporting System to compute COVID-19 CFRs for patients under immunotherapy at different vaccination coverage levels in the total population. CFRs at different vaccination coverage levels were then compared to CFRs before vaccination campaign start. Results: While we found an overall decrease in CFRs on population level with increasing vaccination coverage, we found no decrease in people using anti-CD20 or glucocorticoids. Discussion: Risk-mitigation strategies on an individual- and population-level are thus still needed to lower the probability of fatal SARS-CoV2 infection for these vulnerable populations.
Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan
Authors: Zoya R Umakhanova, Sergei N Bardakov, Mikhail O Mavlikeev, Olga N Chernova, Raisat M Magomedova, Patimat G Akhmedova, Ivan A Yakovlev, Gimat D Dalgatov, Valerii P Fedotov, Artur A Isaev, Roman V Deev
Journal: Front Neurol (2017)
Keywords: lgmd2b, miyoshi myopathy, dysferlin, dysferlinopathy, muscular dystrophy
MeSH terms: Case Reports

To date, over 30 genes with mutations causing limb-girdle muscle dystrophy have been described. Dysferlinopathies are a form of limb-girdle muscle dystrophy type 2B with an incidence ranging from 1:1,300 to 1:200,000 in different populations. In 1996, Dr. S. N. Illarioshkin described a family from the Botlikhsky district of Dagestan, where limb-girdle muscle dystrophy type 2B and Miyoshi myopathy were diagnosed in 12 members from three generations of a large Avar family. In 2000, a previously undescribed mutation in the DYSF gene (c.TG573/574AT; p. Val67Asp) was detected in the affected members of this family. Twenty years later, in this work, we re-examine five known and seven newly affected family members previously diagnosed with dysferlinopathy. We observed disease progression in family members who were previously diagnosed and noted obvious clinical polymorphism of the disease. A typical clinical case is provided.
Case report: Subjective loss of performance after pulmonary embolism in an athlete- beyond normal values
Authors: Daniel Dumitrescu, Felix Gerhardt, Thomas Viethen, Matthias Schmidt, Eckhard Mayer, Stephan Rosenkranz
Journal: BMC Pulm Med (2016)
MeSH terms: Athletes, Athletic Performance / physiology, Endarterectomy, Exercise Tolerance / physiology, Pulmonary Artery / surgery, Pulmonary Embolism / physiopathology, Case Reports, Adult, Angiography, Hemodynamics, Humans, Hypertension, Pulmonary / etiology, Male, Pulmonary Embolism / complications, Pulmonary Embolism / diagnosis, Pulmonary Embolism / surgery, Reference Values, Tomography, X-Ray Computed, Ventilation-Perfusion Ratio

Background:
Chronic thromboembolic pulmonary hypertension (CTEPH) is a progressive disease. For patients with operable CTEPH, there is a clear recommendation for surgical removal of persistent thrombi by pulmonary endarterectomy (PEA). However, without the presence of PH, therapeutic management of chronic thromboembolic disease (CTED) is challenging - especially in highly trained subjects exceeding predicted values of maximal exercise capacity.
Case presentation:
A 43-year-old male athlete reported with progressive exercise limitation since 8 months. Six months earlier, pulmonary embolism had occurred, and was treated since with oral anticoagulation. A pulmonary ventilation/perfusion scan showed severe ventilation/perfusion mismatch: chest CT and pulmonary angiography revealed bilateral wall-adherent thrombotic material, but pulmonary hemodynamics were completely normal. His peak oxygen uptake exceeded predicted values, however exercise ventilatory efficiency was abnormal, compared to a matching athlete. After thoroughly discussing therapeutic options with the patient, he successfully underwent pulmonary endarterectomy at an expert center. Five and twelve months after surgery, his maximal exercise capacity and ventilatory efficiency profoundly improved beyond preoperative values, and his subjective exercise tolerance had returned to normal.
Conclusions:
Significant CTED may be present without relevant pathologic changes in pulmonary hemodynamics at rest. Reaching normal values of maximal exercise capacity does not exclude pulmonary vascular disease in highly trained subjects. More data are needed to evaluate the risk-/benefit ratio of PEA in patients with CTED and normal pulmonary hemodynamics. A thorough discussion with the patient as well as shared decision making regarding therapy are mandatory. Cardiopulmonary exercise testing may add important clinical information in the non-invasive diagnostic evaluation at baseline and during follow-up.
Two Rare Cases of Appendicitis: Amyand's Hernia and De Garengeot's Hernia
Authors: Kimberly A Schaaf, Eric M Melnychuk, Ross D Ellison, Amy J Snover
Journal: Case Rep Emerg Med (2019)
MeSH terms: Case Reports

An Amyand's hernia is an inguinal hernia that contains vermiform appendix. De Garengeot's hernias are similar; however, in this case the appendix is within a femoral hernia. Both types of hernia are rare, and those hernias associated with appendicitis, perforation, or abscess are even scarcer presentations. The treatment of Amyand's hernia and De Garengeot's hernia is not standardized. Generally, hernia repair is performed but disagreement remains regarding the use of mesh and performing appendectomy. This case series describes two individuals with appendicitis presenting to one emergency department within a 24-hour time frame. One case is of a patient with Amyand's hernia and another case is a patient with De Garengeot's hernia with an adjacent abscess. Both individuals were managed with appendectomy and hernia repair without the use of mesh.
Lipoma of vallecula-a case report
Authors: Kia Sing Tan, Win Mar Salmah Jalaluddin
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Lipomas of the larynx, oropharynx and hypopharynx are rare, accounting for approximately 1% of benign laryngeal neoplasms. We present a rare case of a simple lipoma arising from the right vallecula. A 55-year-old male presented with worsening dysphagia for 1 week. CT scan revealed a lesion of fat attenuation in the right vallecula. The patient underwent surgical excision and recovered uneventfully. To our knowledge, there are only two cases of vallecular lipoma that have been reported and they are both of spindle cell subtype and located on the left side. This is the first reported case of a simple lipoma arising from the right vallecula and causing obstructive symptoms. CT scan or MRI is essential in confirming the diagnosis and assessing the extent, thus allowing prompt excision, especially when the patient is symptomatic.
Narrowing the Genetic Causes of Language Dysfunction in the 1q21.1 Microduplication Syndrome
Authors: Antonio Benítez-Burraco, Montserrat Barcos-Martínez, Isabel Espejo-Portero, Maite Fernández-Urquiza, Raúl Torres-Ruiz, Sandra Rodríguez-Perales, Ma Salud Jiménez-Romero
Journal: Front Pediatr (2018)
Keywords: cdh1l, robo1, chromosome 1q211 duplication syndrome, cognitive delay, language deficits, speech problems
MeSH terms: Case Reports

The chromosome 1q21.1 duplication syndrome (OMIM# 612475) is characterized by head anomalies, mild facial dysmorphisms, and cognitive problems, including autistic features, mental retardation, developmental delay, and learning disabilities. Speech and language development are sometimes impaired, but no detailed characterization of language problems in this condition has been provided to date. We report in detail on the cognitive and language phenotype of a child who presents with a duplication in 1q21.1 (arr[hg19] 1q21.1q21.2(145,764,455-147,824,207) × 3), and who exhibits cognitive delay and behavioral disturbances. Language is significantly perturbed, being the expressive domain the most impaired area (with significant dysphemic features in absence of pure motor speech deficits), although language comprehension and use (pragmatics) are also affected. Among the genes found duplicated in the child, CDH1L is upregulated in the blood of the proband. ROBO1, a candidate for dyslexia, is also highly upregulated, whereas, TLE3, a target of FOXP2, is significantly downregulated. These changes might explain language, and particularly speech dysfunction in the proband.
Ruptured left ventricular pseudoaneurysm in the mediastinum following acute myocardial infarction: a case report
Authors: Daoyuan Si, Kaiyao Shi, Dongmei Gao, Ping Yang
Journal: Eur J Med Res (2013)
MeSH terms: Aneurysm, False / etiology, Aneurysm, Ruptured / etiology, Heart Ventricles / pathology, Mediastinum / pathology, Myocardial Infarction / complications, Case Reports, Adult, Aneurysm, False / diagnostic imaging, Aneurysm, False / surgery, Aneurysm, Ruptured / diagnostic imaging, Aneurysm, Ruptured / surgery, Heart Aneurysm / diagnostic imaging, Heart Aneurysm / etiology, Heart Aneurysm / surgery, Heart Ventricles / diagnostic imaging, Heart Ventricles / surgery, Humans, Male, Mediastinum / diagnostic imaging, Mediastinum / surgery, Myocardial Infarction / diagnostic imaging, Myocardial Infarction / surgery, Tomography, X-Ray Computed, Ultrasonography

Left ventricular pseudoaneurysm is an uncommon complication after transmural acute myocardial infarction (AMI). Here we describe the case of a 43-year-old man who presented with AMI and chest distress despite the normal appearance of his coronary artery during coronary angiography. Timely thrombolytic therapy was administered. Echocardiography, and cardiac computed tomography showed a ventricular pseudoaneurysm, and direct visualization at the time of surgery showed that it had ruptured in the mediastinum instead of the pericardium. The survival rate of patients with ventricular pseudoaneurysm rupture is low. The rupture of ventricular pseudoaneurysm in the mediastinum is rare; therefore, this case is noteworthy.
Clear Cell Carcinoma Arising in Vulvar Endometriosis
Authors: Pranom Buppasiri, Pilaiwan Kleebkaow, Chantip Tharanon, Apiwat Aue-Aungkul, Chumnan Kietpeerakool
Journal: Case Rep Pathol (2018)
MeSH terms: Case Reports

We report a case of vulvar clear cell adenocarcinoma in a woman presenting with a lump and pain in the right side of the labia majora. Three years prior to this visit, she underwent a total abdominal hysterectomy with bilateral salpingooophorectomy and excision of a labial mass. Pathological examination revealed adenomyosis and multiple leiomyomas in the uterus, endometriotic cysts in both ovaries, and foci of atypical endometriosis in the labial mass. The results of an incision biopsy performed before referral indicted only apocrine hidrocystoma. Physical examination revealed a hard mass at the right labia majora extending to the right groin. The mass seemed to be in continuity with the pubic symphysis that would require pubic bone excision and reconstruction with flap surgery to achieve complete resection. However, the patient refused such extensive surgery. Based on previous diagnosis of vulvar endometriosis, she had been treated with GnRH agonists and depot medroxyprogesterone acetate. However, the mass developed into an ulcer and increased in size. A second biopsy of the mass was undertaken, and the pathological diagnosis was clear cell carcinoma with coexisting atypical endometriosis. Computed tomography of the abdominopelvic region showed an ulcerative mass at the right labia majora and nodal metastasis at the external iliac and inguinal regions. Systemic chemotherapy was administered. The growth of the tumors stabilized during the first two cycles of chemotherapy but rapidly progressed thereafter. At 17 months after her initial presentation, the patient passed away due to the progression of the disease.
Hypothyroidism due to hepatic hemangioendothelioma: a case report
Authors: Semra Çetinkaya, Havva Nur Peltek Kendirci, Sebahat Yilmaz Ağladioğlu, Veysel Nijat Baş, Sonay Özdemir, Ceyhun Bozkurt, Zehra Aycan
Journal: J Clin Res Pediatr Endocrinol (2010)
Keywords: hepatic hemangioendothelioma, consumptive hypothyroidism, type 3 iodothyronine deiodinase
MeSH terms: Congenital Hypothyroidism / etiology, Hemangioendothelioma / complications, Liver Neoplasms / complications, Case Reports, Anti-Inflammatory Agents / therapeutic use, Antineoplastic Agents / therapeutic use, Congenital Hypothyroidism / drug therapy, Hemangioendothelioma / diagnosis, Hemangioendothelioma / drug therapy, Hormone Replacement Therapy, Humans, Infant, Newborn, Interferon-alpha / therapeutic use, Liver Neoplasms / diagnosis, Liver Neoplasms / drug therapy, Magnetic Resonance Imaging, Male, Prednisolone / therapeutic use, Thyroid Function Tests, Thyrotropin / blood, Thyrotropin / therapeutic use, Thyroxine / therapeutic use, Anti-Inflammatory Agents, Antineoplastic Agents, Interferon-alpha, Thyrotropin, Prednisolone, Thyroxine

Although hemangioendothelioma (HHE) is a commonly encountered hepatic tumor during infancy, HHE-related hypothyroidism is rare. We present a patient who developed HHE-related hypothyroidism during the neonatal period and showed marked improvement in hypothyroidism by regression of HHE. A 28-day-old boy with TSH level of 77 mIU/mL on neonatal screening and diagnosed as congenital hypothyroidism was started on L-thyroxine (L-T4) (11 μg/kg/day) therapy on the 21(th) day of life. On physical examination, the liver was palpable 5 cm below the right costal margin, and the thyroid gland was nonpalpable. Thyroid ultrasonography was normal. Although L-T4 dose was increased to 15 μg/kg/day, TSH was not suppressed and free T3 level remained low. HHE in both lobes of the liver was detected by abdominal ultrasonography and magnetic resonance imaging. Treatment was started with prednisolone 2 mg/kg/day and alpha-interferon 3 million U/m(2)/3 times per week. Thyroid dysfunction was thought to be due to type 3 iodothyronine deiodinase activity expressed by HHE. L-T4 therapy was changed to Bitiron® tablet, which includes both T4 and T3, and euthyroidism was attained within 1 month. Thyroid hormone requirement was reduced and treatment was discontinued after regression of the HHE. At the most recent visit, the patient was 21 months old and off treatment. His growth and neurological development were normal for age and he was euthyroid. HHE should be considered in cases with severe hypothyroidism resistant to high-dose thyroid hormone replacement. The treatment of HHE in combination with T4 and T3 therapy results in euthyroidism.
Elemental diets role in treatment of high ileostomy output and other gastrointestinal disorders
Authors: Kamran Rostami, David Al Dulaimi
Journal: Gastroenterol Hepatol Bed Bench (2015)
Keywords: elemental diets, ileostomy gi disorders, stoma, ulcerative colitis
MeSH terms: Case Reports

Elemental diet (ED) has been used widely in the treatment of gastrointestinal disorders, especially with the management of Crohn's disease. This modality of diets provides all essential nutrients, and contains protein in the form of free amino acids that are theoretically easily absorbed. High output ileostomies are a rare but important complications of stoma formation following bowel surgery. Treatments could be challenging and include anti-diarrhoeals, octreotide and proton pump inhibitors. There is very little research regarding the use of elemental diets in the treatment of patients with post-operative high ileostomy outputs. Adequate management of high output ileostomies might prevent significant morbidity. In this case report, we describe a patient who underwent a subtotal colectomy for ulcerative colitis complicated by refractory high ileostomy output despite maximal standard medical therapy for years. The ileostomy output was dramatically reduced following the introduction of an elemental diet. This case suggests a possible role for the introduction of an elemental diet in the management of high output ileostomies. Besides presenting this case with high output ileostomy, we reviewed the role of ED in other gastrointestinal disorders.
Extensive sphenoid chordoma mimicking a prolactinoma
Authors: Mounira El Euch, Olfa Hentati, Madiha Mahfoudhi, Wifak Bani, Fethi Ben Hamida, Fatima Jaziri, Khaoula Ben Abdelghani, Sami Turki, Taieb Ben Abdallah
Journal: Pan Afr Med J (2019)
Keywords: prolactinoma, chordoma, hypopituitarism
MeSH terms: Chordoma / diagnosis, Hypopituitarism / diagnosis, Prolactinoma / diagnosis, Case Reports, Chordoma / pathology, Diagnosis, Differential, Humans, Hypopituitarism / etiology, Magnetic Resonance Imaging, Male, Middle Aged, Prolactinoma / pathology, Sphenoid Bone / pathology, Tunisia

The chordoma is a benign cartilaginous tumor whose sphenoidale localization is exceptional. This tumor has considerable difficulties of both diagnosis and treatment. We report the observation of a Tunisian adult who presented features of hypopituitarism set wrongly on account of a prolactinoma.
Rapid Molecular Response to Dasatinib in a Pediatric Relapsed Acute Lymphoblastic Leukemia With NCOR1-LYN Fusion
Authors: Hai-Ping Dai, Jia Yin, Zheng Li, Chun-Xiao Yang, Tin Cao, Ping Chen, Yun-Hui Zong, Ming-Qing Zhu, Xia-Ming Zhu, Sheng Xiao, De-Pei Wu, Xiao-Wen Tang
Journal: Front Oncol (2020)
Keywords: all, ncor1-lyn, dasatinib, fusion gene, pediatric
MeSH terms: Case Reports

Background: Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) is associated with high rates of treatment failure and poor outcome. Activation of ABL/Src family kinases is found in ~10% of Ph-like ALL, which can be therapeutically targeted by tyrosine kinase inhibitors. LYN is a member of the ABL/Src-tyrosine kinase family. Somatic LYN rearrangements are found in 5 cases of hematopoietic malignancies so far, although none of them were treated with tyrosine kinase inhibitors. Case presentation: A 6-year-old boy with relapsed B-ALL had no response to reinduction chemotherapy. He was then treated with the ABL1 tyrosine kinase inhibitor dasatinib and achieved complete remission within 2 weeks. Haploidentical allogenic stem cell transplantation (allo-HSCT) was subsequently performed and maintenance therapy with dasatinib initiated 8 weeks post-transplantation. He has been in minimal residual disease negative remission for 10 months after allo-HSCT. Result: His bone marrow karyotype showed a balanced translocation between chromosomes 8 and 17, leading to a NCOR1-LYN fusion gene confirmed with sequencing. Conclusion: Although LYN overexpression is described in many AML and B-ALL patients, intragenic LYN rearrangement is a rare event. For the first time, we present evidence that dasatinib is effective in treating a pediatric B-ALL with NCOR-LYN fusion.