OpenMed/multicare-articles huggingface dataset:
Case report: Variant-specific pre-exposure prophylaxis of SARS-CoV-2 infection in multiple sclerosis patients lacking vaccination responses
Authors: Christina Woopen, Urszula Konofalska, Katja Akgün, Tjalf Ziemssen
Journal: Front Immunol (2022)
Keywords: case report, coronavirus disease (covid-19), multiple sclerosis, neutralizing antibody, prophylaxis, severe acute respiratory syndrome coronavirus 2 (sars-cov-2), sphingosine-1-receptor modulators (s1pr), vaccination
MeSH terms: Antibodies, Monoclonal, Humanized / administration & dosage, Antibodies, Monoclonal, Humanized / adverse effects, COVID-19 / prevention & control, Multiple Sclerosis / drug therapy, Pre-Exposure Prophylaxis, Case Reports, Antibodies, Monoclonal, Antibodies, Neutralizing, Antibodies, Viral, Humans, SARS-CoV-2, Sphingosine-1-Phosphate Receptors, Vaccination, Antibodies, Monoclonal, Antibodies, Monoclonal, Humanized, Antibodies, Neutralizing, Antibodies, Viral, Sphingosine-1-Phosphate Receptors, tixagevimab, cilgavimab, sotrovimab, imdevimab, casirivimab, SARS-CoV-2 variants

Sphingosine-1-phosphate receptor modulators and anti-CD20 treatment are widely used disease-modifying treatments for multiple sclerosis. Unfortunately, they may impair the patient's ability to mount sufficient humoral and T-cellular responses to vaccination, which is of special relevance in the context of the SARS-CoV-2 pandemic. We present here a case series of six multiple sclerosis patients on treatment with sphingosine-1-phosphate receptor modulators who failed to develop SARS-CoV-2-specific antibodies and T-cells after three doses of vaccination. Due to their ongoing immunotherapy, lacking vaccination response, and additional risk factors, we offered them pre-exposure prophylactic treatment with monoclonal SARS-CoV-2-neutralizing antibodies. Initially, treatment was conducted with the antibody cocktail casirivimab/imdevimab. When the SARS-CoV-2 Omicron variant became predominant, we switched treatment to monoclonal antibody sotrovimab due to its sustained neutralizing ability also against the Omicron strain. Since sotrovimab was approved only for the treatment of COVID-19 infection and not for pre-exposure prophylaxis, we switched treatment to tixagevimab/cilgavimab as soon as it was granted marketing authorization in the European Union. This antibody cocktail has retained, albeit reduced, neutralizing activity against the Omicron variant and is approved for pre-exposure prophylaxis. No severe adverse events were recorded for our patients. One patient had a positive RT-PCR for SARS-CoV-2 under treatment with sotrovimab, but was asymptomatic. The other five patients did not develop symptoms of an upper respiratory tract infection or evidence of a SARS-CoV-2 infection during the time of treatment up until the finalization of this report. SARS-CoV-2-neutralizing antibody treatment should be considered individually for multiple sclerosis patients lacking adequate vaccination responses on account of their immunomodulatory treatment, especially in times of high incidences of SARS-CoV-2 infection.
Pericarditis in takotsubo cardiomyopathy: a case report and review of the literature
Authors: Joonseok Kim, Heather S Laird-Fick, Osama Alsara, Venu Gourineni, George S Abela
Journal: Case Rep Cardiol (2013)

Case. A 64-year-old Caucasian woman was brought to the emergency department with severe dysphagia and left chest pain for last 4 days. Initial evaluation revealed elevated ST segment in precordial leads on EKG with elevated cardiac enzymes. Limited echocardiogram showed infra-apical wall hypokinesia. Cardiac angiography was done subsequently which showed nonflow limiting mild coronary artery disease. Takotsubo cardiomyopathy was diagnosed and she was treated medically. On the third day of admission, a repeat ECG showed diffuse convex ST-segment elevations in precordial leads, compatible with acute pericarditis pattern of EKG. Decision was made to start colchicine empirically for possible pericarditis. Follow-up EKG in 2 days showed decreased ST-segment elevations in precordial leads. The patient was discharged with colchicine and a follow-up echocardiogram in 4 weeks demonstrated a normal ejection fraction with no evidence of pericarditis. Conclusion. Acute pericarditis can be associated either as a consequence of or as a triggering factor for Takotsubo cardiomyopathy. It is vital for physicians to be aware of pericarditis as a potential complication of Takotsubo cardiomyopathy.
Functional analyses of C.2268dup in thyroid peroxidase gene associated with goitrous congenital hypothyroidism
Authors: Ching Chin Lee, Fatimah Harun, Muhammad Yazid Jalaludin, Chor Yin Lim, Khoon Leong Ng, Sarni Mat Junit
Journal: Biomed Res Int (2014)
MeSH terms: Congenital Hypothyroidism / enzymology, Congenital Hypothyroidism / genetics, Genetic Predisposition to Disease / genetics, Goiter / enzymology, Goiter / genetics, Iodide Peroxidase / genetics, Polymorphism, Single Nucleotide / genetics, Case Reports, Research Support, Non-U.S. Gov't, China, Congenital Hypothyroidism / diagnosis, Female, Genetic Markers / genetics, Goiter / diagnosis, Humans, Infant, Newborn, Malaysia, Mutation / genetics, Genetic Markers, Iodide Peroxidase

The c.2268dup mutation in thyroid peroxidase (TPO) gene was reported to be a founder mutation in Taiwanese patients with dyshormonogenetic congenital hypothyroidism (CH). The functional impact of the mutation is not well documented. In this study, homozygous c.2268dup mutation was detected in two Malaysian-Chinese sisters with goitrous CH. Normal and alternatively spliced TPO mRNA transcripts were present in thyroid tissues of the two sisters. The abnormal transcript contained 34 nucleotides originating from intron 12. The c.2268dup is predicted to generate a premature termination codon (PTC) at position 757 (p.Glu757X). Instead of restoring the normal reading frame, the alternatively spliced transcript has led to another stop codon at position 740 (p.Asp739ValfsX740). The two PTCs are located at 116 and 201 nucleotides upstream of the exons 13/14 junction fulfilling the requirement for a nonsense-mediated mRNA decay (NMD). Quantitative RT-PCR revealed an abundance of unidentified transcripts believed to be associated with the NMD. TPO enzyme activity was not detected in both patients, even though a faint TPO band of about 80 kD was present. In conclusion, the c.2268dup mutation leads to the formation of normal and alternatively spliced TPO mRNA transcripts with a consequential loss of TPO enzymatic activity in Malaysian-Chinese patients with goitrous CH.
Finding carcinoid tumor before bariatric surgery. Is preoperative endoscopy necessary? Case report
Authors: Ozan Şen, Ahmet Gökhan Türkçapar
Journal: Int J Surg Case Rep (2019)
Keywords: bariatric surgery, neuroendocrine tumor, preoperative endoscopy

Introduction:
Carcinoid tumors are endocrine system-related lesions and 4% of the gastrointestinal tract's neuroendocrine tumors (NET) originate from stomach. In recent years, gastric carcinoid tumors have been reported at increasing rates on endoscopies. In this article, we will present a case of gastric carcinoid tumor detected at the upper gastrointestinal (GI) endoscopy during preoperative bariatric surgery workup.
Case presentation:
A 55 years old male patient with body mass index (BMI) 46 kg/m2 was scheduled for bariatric surgery. Upper GI endoscopy revealed 2 separate 4-5 mm nodular lesions at gastric corpus and antrum. Biopsies were taken and both lesions were reported as neuroendocrine tumors. It was decided that the Laparoscopic sleeve gastrectomy (LSG) operation would be performed because both lesion areas would remain in the extracted part of stomach.
Discussion:
The routine use of upper GI endoscopy in preoperative evaluation of bariatric surgery patients still remains controversial.
Conclusion:
Upper GI endoscopy is very important in determining various gastric pathologies and determining the most appropriate surgical method before bariatric surgery.
Abdominal Abscesses and Destruction of Inguinal Canal with Mesh Dislocation caused by a Perforated Diverticulitis
Authors: Christoph Paasch, Franziska Renger, Sergej Baschinskij, Martin W Strik
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

The diverticulitis is a frequent disease of the gastrointestinal tract. It may lead to a variety of severe complications. In some cases, it has to be surgically treated. Herein, we present a rare case of a 66-year-old man, who suffered from a painful, visible "fist sized" mass of the left lower abdomen. A perforated diverticulitis with abdominal, cutaneous abscesses and destruction of the inguinal canal with mesh dislocation was diagnosed and successfully surgically treated.
Case Report: An Unusual Course of Angiosarcoma After Lung Transplantation
Authors: Saskia Bos, Liesbeth Daniëls, Lucienne Michaux, Isabelle Vanden Bempt, Sascha Vermeer, F J Sherida H Woei-A-Jin, Patrick Schöffski, Birgit Weynand, Raf Sciot, Sabine Declercq, Laurens J Ceulemans, Laurent Godinas, Geert M Verleden, Dirk E Van Raemdonck, Lieven J Dupont, Robin Vos, Leuven Lung Transplant Group, Jonas Yserbyt, Arne P Neyrinck, Veronique Schaevers, Bruno Desschans, Dirk Claes, Karen Denaux, Paul De Leyn, Herbert Decaluw Eacute, Hans Van Veer, Lieven Depypere, Marie-Paule Emonds
Journal: Front Immunol (2022)
Keywords: angiosarcoma, case report, donor-related, lung transplantation, malignancy
MeSH terms: Hemangiosarcoma / etiology, Lung Transplantation / adverse effects, Tissue Donors, Case Reports, Research Support, Non-U.S. Gov't, Adult, Female, Humans

A 35-year-old woman underwent bilateral lung transplantation for primary ciliary dyskinesia and developed vascular tumors over a slow time course. Initial presentation of non-specific vascular tumors in the lungs and liver for up to 6 years after transplantation evolved toward bilateral ovarian angiosarcoma. Tumor analysis by haplotyping and human leukocyte antigen typing showed mixed donor chimerism, proving donor origin of the tumoral lesions. In retrospect, the donor became brain dead following neurosurgical complications for a previously biopsy-proven cerebral hemangioma, which is believed to have been a precursor lesion of the vascular malignancy in the recipient. Donor-transmitted tumors should always be suspected in solid organ transplant recipients in case of uncommon disease course or histology, and proper tissue-based diagnosis using sensitive techniques should be pursued.
Doppler impedance changes at the fetal brain vessels in a pregnancy affected with a multiple combination of uteroplacental anomalies
Authors: José Morales-Roselló, Núria Peralta Llorens
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

A fetus with a very rare five-fold combination of uteroplacental anomalies, bicornuate uterus, short cervix with cervical incompetence, multilobed placenta succenturiata, accessory cotyledon within the cervical funneling, and umbilical cord insertion into the anomalous cervical cotyledon, presented an early and marked decrease at the vertebral and middle cerebral arteries Doppler resistances. This cerebral low-impedance state, usually found before labor, and considered an adaptive mechanism developed to protect the fetus at term from labor asphyxia, was present for an unknown reason at 20 weeks. After the patient was treated with vaginal progesterone, the cervix shortening improved and markedly, at the same time, the cerebral vascular resistances increased and maintained an adequate for gestational age impedance until delivery at 34 weeks. As the described uteroplacental anomalies determined a high risk of preterm delivery, due to cervical dilation, cord compresion, and placental haemorrhage, these fluctuating brain vascular changes might be the result of the fetal adaptation to the changes preceding an imminent delivery.
Anaesthesia Management of Caesarean Section in Two Patients with Eisenmenger's Syndrome
Authors: G Fang, Y K Tian, W Mei
Journal: Anesthesiol Res Pract (2011)
MeSH terms: Case Reports

Recently two parturients with Eisenmenger's syndrome underwent caesarean section at our hospital. They were managed by a multidisciplinary team during their perioperative period. The caesarean sections were uneventfully performed, one under general anaesthesia and one with epidural anaesthesia, with delivery of two newborns with satisfactory Apgar scores. One patient died in the post-partum period, and the other did well. We discuss the anaesthetic considerations in managing these high-risk patients.
Systemic Mastocytosis: A Mimicker of Reactive Arthritis
Authors: Oussama G Nasrallah, Razan Mohty, Jean El-Cheikh, Mira Merashli
Journal: Case Rep Rheumatol (2023)
MeSH terms: Case Reports

Objectives:
Illustration of a case of systemic mastocytosis mimicking reactive arthritis in the absence of an infectious etiology.
Methods:
Review of the patient's medical records.
Results:
We report a case of systemic mastocytosis relapse, presenting with pancytopenia accompanied by knee monoarthritis, cystitis, and bilateral conjunctivitis occurring simultaneously at the same time interval within 2-4 days, mimicking reactive arthritis in the absence of an infectious etiology.
Conclusion:
Our case demonstrated reactive arthritis features (triad of urethritis, conjunctivitis, and arthritis) without an infectious trigger but rather a relapse of mastocytosis. We should think outside the box when faced with such a clinical scenario in the absence of an infectious etiology. Paraneoplastic reactive arthritis is to be considered after excluding an underlying infection.
Defects in Very Long-Chain Fatty Acid Oxidation Presenting as Different Types of Cardiomyopathy
Authors: Fariba Alaei, Marjan Shakiba, Hedyeh Saneifard, Kourosh Vahidshahi, Mastaneh Alaei
Journal: Case Rep Cardiol (2022)
MeSH terms: Case Reports

Cardiac involvement may accompany various inborn errors of metabolism (IEM) including fatty acid oxidation (FAO) disorders, presenting as rhythm disturbances, conduction abnormalities, cardiomyopathies, pericardial effusion, and sudden cardiac death. FAO disorders are rare mitochondrial diseases with variable organ involvements and clinical presentations. Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a FAO disorder with diverse clinical presentations. We report two VLCADD patients with cardiac involvement and diverse presentations. The first patient represents with cardiogenic shock and dilated cardiomyopathy (DCM) at childhood. The second patient represents with suspicious sepsis at early infancy and hypertrophic cardiomyopathy (HCM) at further evaluation. IEM should be thought of in every individual case with suspicious sepsis or cardiac failure regardless of age or previous history.
Photopheresis Provides Significant Long-Lasting Benefit in Nephrogenic Systemic Fibrosis
Authors: Ranran Zhang, William Nicholas Rose
Journal: Case Rep Dermatol Med (2017)
MeSH terms: Case Reports

Nephrogenic systemic fibrosis (NSF), previously known as nephrogenic fibrosing dermopathy, is a rare complication of exposure to gadolinium-based contrast agents in patients who have significantly decreased renal function. Manifestations include fibrosis of the skin and other tissues. Effective therapies are lacking. Photopheresis has been tried with variable rates of improvement, and small numbers of cases (20 as of 2016) have been reported of NSF patients treated with photopheresis. We report a case of patient with nephrogenic systemic fibrosis who was treated with photopheresis and demonstrated significant lasting improvements.
TIO Associated with Hyperparathyroidism: A Rarity, a Rule, or a Novel HPT-PMT Syndrome-A Case Study with Literature Review
Authors: Michael Salim, Mohannad Samy Behairy, Elena Barengolts
Journal: Case Rep Endocrinol (2021)
MeSH terms: Case Reports

Objective:
Association of primary hyperparathyroidism (pHPT) with phosphaturic mesenchymal tumors (PMT) is rarely reported. This report entertains the hypothesis of the causal association of HPT with tumor-induced osteomalacia (TIO) and of the existence of HPT-PMT syndrome. Case Presentation. A 49-year-old man presented with fragility rib fractures, generalized bone pain, and muscle weakness worsening over the past 3 years. Initial tests demonstrated hypophosphatemia and high PTH. The diagnosis of pHPT was entertained, but parathyroid scan was negative. During a 2-year follow-up, the patient reported minimal improvement of symptoms after intermittent treatment with calcitriol and phosphate. Biochemical evaluation showed persistent hypophosphatemia with renal phosphate wasting, elevated FGF23, and osteopenia on DXA scan. TIO was suspected. Multiple MRIs and whole-body FDG-PET scans were inconclusive. The patient subsequently underwent 68Ga-DOTATATE PET-CT, which revealed a somatostatin receptor-positive lesion in the lung. The resected mass was confirmed as PMT. The patient had dramatically improved symptoms, normal phosphate, calcium, and FGF23. During follow-up over 3 years postsurgery, the patient had slowly rising calcium and persistently elevated PTH.
Conclusion:
The debate whether the patient had pHPT or tertiary HPT prompted literature review showing that aberrant genes including FGFR1, FGF1, fibronectin 1, and Klotho were mechanistically involved in the HPT-PMT association. This case highlights the pitfalls contributing to delayed diagnosis and treatment of TIO and hypothesizes the association between pHPT and PMT.
Case Report: Coexistence of generalized arterial calcification of infancy (GACI) and maternal infections with cytomegalovirus and Toxoplasma gondii-unexpected fatal complication in a newborn
Authors: Simona Gurzu, Diana Burlacu, Réka Sánta, Ioan Jung, Mark Slevin, Emöke Fulop
Journal: Front Pediatr (2022)
Keywords: autopsy, histology, neonatal prematurity, toxoplasmosis, vascular calcification
MeSH terms: Case Reports

Generalized arterial calcification of infancy (GACI) is an extremely rare autosomal recessive condition characterized by the storage of calcium at the level of internal elastic membrane of arteries. The main consequences are intimal fibrous thickening and arterial occlusion. We present the case of a preterm male infant, born from an improperly dispensed pregnancy. At birth, the newborn presented generalized edema and hypotonia, and abolished heart sounds, without response to stimulation. Despite the mechanical ventilation, the infant died 2 h after birth. The death was clinically presumed to be related to the maternal infection with cytomegalovirus (CMV) and Toxoplasma gondii. The infant's mother affirmed the history of 6 previous miscarriages and a non-consanguineous marriage. At autopsy, microscopic examination showed generalized vasculitis secondary to minimal calcification of the large and medium-sized vessels of the lungs, liver, and tongue. These findings supported the diagnosis of GACI. Hydrothorax, non-infective ascites, and necrosis of the brain parenchyma were also associated. The premature infant died due to tonsillar herniation associated with decreased vessel compliance and refractory pulmonary hypertension thus leading to congestive cardiac failure. CMV was not detected on histopathological assessment nor were signs of any other infections. To the best of our knowledge, this is the first case of GACI occurring in a baby from a mother co-infected with CMV and T. gondii.
Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens
Authors: Christoph B Geier, Alexander Piller, Angela Linder, Kai M T Sauerwein, Martha M Eibl, Hermann M Wolf
Journal: PLoS One (2015)
MeSH terms: DNA-Binding Proteins / genetics, Homeodomain Proteins / genetics, Immunologic Deficiency Syndromes / genetics, Mutation, Nuclear Proteins / genetics, Case Reports, Adult, CD4-Positive T-Lymphocytes / immunology, DNA-Binding Proteins / metabolism, Female, Homeodomain Proteins / metabolism, Humans, Immunologic Deficiency Syndromes / diagnosis, Lipopolysaccharides / immunology, Nuclear Proteins / metabolism, DNA-Binding Proteins, Homeodomain Proteins, Lipopolysaccharides, Nuclear Proteins, RAG2 protein, human, RAG-1 protein

Loss of function mutations in the recombination activating genes RAG1 and RAG2 have been reported to cause a T-B-NK+ type of severe combined immunodeficiency. In addition identification of hypomorphic mutations in RAG1 and RAG2 has led to an expansion of the spectrum of disease to include Omenn syndrome, early onset autoimmunity, granuloma, chronic cytomegalovirus- or EBV-infection with expansion of gamma/delta T-cells, idiophatic CD4 lymphopenia and a phenotype resembling common variable immunodeficiency. Herein we describe a novel presentation of leaky RAG1 and RAG2 deficiency in two unrelated adult patients with impaired antibody production against bacterial polysaccharide antigens. Clinical manifestation included recurrent pneumonia, sinusitis, otitis media and in one patient recurrent cutaneous vasculitis. Both patients harbored a combination of a null mutation on one allele with a novel hypomorphic RAG1/2 mutation on the other allele. One of these novel mutations affected the start codon of RAG1 and resulted in an aberrant gene and protein expression. The second novel RAG2 mutation leads to a truncated RAG2 protein, lacking the C-terminus with intact core RAG2 and reduced VDJ recombination capacity as previously described in a mouse model. Both patients presented with severely decreased numbers of naïve CD4+ T cells and defective T independent IgG responses to bacterial polysaccharide antigens, while T cell-dependent IgG antibody formation e.g. after tetanus or TBEV vaccination was intact. In conclusion, hypomorphic mutations in genes responsible for SCID should be considered in adults with predominantly antibody deficiency.
Primary sarcoma of the specialised prostatic stroma: a case report and review of the literature
Authors: Rosanna Zamparese, Francesco Corini, Antonio Braccischi, Antonella D'Angelo, Lucilla Diamanti, Marina Del Vecchio, Willy Giannubilo, Vladimiro Mambelli
Journal: Case Rep Pathol (2011)
MeSH terms: Case Reports

Primary sarcoma tumours of the prostate are rare and are classified, according to their histology, as stromal tumours of uncertain malignant potential (STUMP) and stromal prostatic sarcoma (PS; low and high grade). We describe a case of a 71-year-old man that developed progressive urinary obstruction symptoms and was subjected to a transurethral prostatic resection (TURP). Histologically, there is a diffuse proliferation of epithelioid and spindle cells that showed rare atypical mitotic figures. Immunohistochemically, the neoplastic cells express diffusely CD34 and focally progesterone whereas no immunoreactivity was seen for cytocheratin, desmin, S-100, Bcl-2, chromogranin, CD117, and actin smooth muscle. A final diagnosis of low-grade prostatic stromal sarcoma (LG-PS) was made. This is a really rare neoplasm; in the literature, in fact, to our knowledge, only 6 cases are described and all of these were alive and free of disease at followup. Our patient too is free of disease at 15 months from the diagnosis.