OpenMed/multicare-articles huggingface dataset:
Acquired and Innate Immunity Impairment and Severe Disseminated Mycobacterium genavense Infection in a Patient With a NF-κB1 Deficiency
Authors: Luis Ignacio Gonzalez-Granado, Raquel Ruiz-García, Javier Blas-Espada, José Manuel Moreno-Villares, Marta Germán-Diaz, Marta López-Nevado, Estela Paz-Artal, Oscar Toldos, Yolanda Rodriguez-Gil, Jaime de Inocencio, Nerea Domínguez-Pinilla, Luis M Allende
Journal: Front Immunol (2019)
Keywords: langerhans cell histiocytosis, mycobacterium genavense, nfkb1 gene, common variable immunodeficiency, factor of kappa light polypeptide gene enhancer in b-cells 1, mendelian susceptibility to mycobacterial disease, primary immunodeficiency, submucosal lymphocytic plexitis
MeSH terms: Adaptive Immunity, Immunity, Innate, Immunologic Deficiency Syndromes / complications, Immunologic Deficiency Syndromes / genetics, Mycobacterium / immunology, Mycobacterium Infections / diagnosis, Mycobacterium Infections / etiology, NF-kappa B p50 Subunit / deficiency, Case Reports, Research Support, Non-U.S. Gov't, Biopsy, Bone Marrow / metabolism, Child, Cytokines / metabolism, Humans, Immunophenotyping, Male, Mutation, Pedigree, Phenotype, Skin / pathology, Cytokines, NF-kappa B p50 Subunit

Background: NF-κB1 is a master regulator of both acquired and innate responses. NFKB1 loss-of-function mutations elicit a wide clinical phenotype with asymptomatic individuals at one end of the spectrum and patients with common variable immunodeficiency, combined immunodeficiency or autoinflammation at the other. Impairment of acquired and innate immunity and disseminated Mycobacterium genavense infection expands the clinical and immunological phenotype of NF-κB1 deficiency. Objective: Functional and molecular characterization of a patient with a novel phenotype of NF-κB1 deficiency. Methods: Circulating T, B, dendritic cell subsets and innate or unconventional T-cells were quantified. The cytokine production in stimulated whole blood samples was assessed and molecular characterization by next generation sequencing and gene expression assays were also performed. Results: We report a patient presenting with features of combined immunodeficiency (CID) and disseminated Mycobacterium genavense infection. Sequencing of genomic DNA identified a novel synonymous mutation (c.705G > A) in NFKB1 gene which resulted in exon 8 skipping and haploinsufficiency of the NF-κB1 subunit p50. The susceptibility to atypical mycobacterial infection has not been previously reported and may be the result of a dendritic cell deficiency. A selective deficiency of circulating follicular helper T (cTFH) cells responsible for mediating the differentiation of naive B cells into memory and plasma cells was also present in the patient. It could affect the maturation of innate or unconventional T cells where NF-κB1 could also be involved. Conclusion: These findings showed that the role of NF-κB1 in humans could be critical for the development of acquired and innate immunity and further highlights the role of human T cells in anti-mycobacterial immunity.
Iatrogenic Severe Splenic Injury after Colonoscopy
Authors: Ikponmwosa Enofe, Jacob Burch, Julie Yam, Manoj Rai
Journal: Case Rep Gastrointest Med (2020)
MeSH terms: Case Reports

Colonoscopy is a low-risk procedure performed for screening and diagnostic purposes. About 15 million colonoscopies were carried out in the United States in 2012 with this number projected to increase. Injury to the spleen as a complication of colonoscopy is still a rather rare occurrence. We report a case of significant splenic injury, American Association of Surgery for Trauma (AAST) grade III with hemoperitoneum, in a patient following diagnostic colonoscopy, managed conservatively without the need for invasive or salvage surgical procedure.
Lamotrigine-Valproic Acid Interaction Leading to Stevens-Johnson Syndrome
Authors: Marta Vázquez, Cecilia Maldonado, Natalia Guevara, Andrea Rey, Pietro Fagiolino, Antonella Carozzi, Carlos Azambuja
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

Lamotrigine (LTG) is currently indicated as adjunctive therapy for focal and generalized tonic-clonic seizures and for treatment of bipolar disorder and neuropathic pain. A common concern with LTG in children is the frequency of appearance of skin rash. The intensity of this adverse effect can vary from transient mild rash to Stevens-Johnson syndrome (SJS), which can be fatal mainly when LTG is coadministered with valproic acid (VPA). Hereby, we present the case of an 8-year-old boy who suffered from SJS and other complications two weeks after LTG was added to his VPA treatment in order to control his seizures. VPA is known to decrease LTG clearance via reduced glucuronidation. In this case, the minor elimination pathway of LTG would play a more important role, and the formation of an arene oxide metabolite would be enhanced. As this reactive metabolite is detoxified mainly by enzymatic reactions, involving microsomal epoxide hydrolase and/or GSH-S-transferases and these enzymes are polymorphically expressed in humans, arene oxide toxicity is increased when epoxide hydrolase or GSH-S-transferases is either defective or inhibited or a depletion of intracellular glutathione levels is taking place. VPA can cause inhibition of epoxide hydrolase enzymes and/or depletion of glutathione levels leading to adverse cutaneous reactions.
Axillary lymph node dissection combined with radiotherapy for trichilemmal carcinoma with giant lymph node metastasis: A case report
Authors: Wenjie Lv, Dawen Zheng, Wenbin Guan, Ping Wu
Journal: Front Oncol (2022)
Keywords: axillary lymph node dissection, chemotherapy, lymph node metastasis, radiotherapy, trichilemmal carcinoma
MeSH terms: Case Reports

Background:
Trichilemmal carcinoma (TC) is a rare malignancy with a poor outcome if local recurrence and distant metastasis occur. There is no treatment strategy for such a disease.
Case presentation:
We reported a complicated case of TC in the right lower abdomen with ipsilateral axillary and inguinal lymph node metastases. After surgery and radiotherapy, there has been no recurrence or metastasis in the follow-up to date.
Conclusion:
We believe that even though considered a tumor of low malignant potential, TC still has the risk of recurrence and metastasis, and the lymph node status should be identified if a high suspicion or diagnosis is made. Regional lymph node dissection followed by local radiotherapy is recommended as the optimal treatment strategy for patients with lymph node metastases of TC. Screening for metastasis and close follow-up are indispensable for improving prognosis.
Indocyanine Green Near-Infrared Fluorescence Imaging-Guided Laparoscopic Heminephrectomy for Left Ureteral Cancer in Patient with Horseshoe Kidney
Authors: Takao Natsuyama, Yozo Mitsui, Masato Uetani, Shigeyuki Ohta, Shin-Ichi Hisasue
Journal: Case Rep Urol (2019)
MeSH terms: Case Reports

Laparoscopic surgery for patients with a horseshoe kidney is challenging because of the location, aberrant vasculature, and difficulty with division of the isthmus with adequate hemostasis. We herein report performance of a laparoscopic heminephrectomy for left ureteral cancer in a patient with a horseshoe kidney under guidance from near-infrared fluorescence (NIRF) imaging using indocyanine green (ICG). A 62-year-old male was referred to our hospital for treatment of left ureteral cancer associated with a horseshoe kidney. We performed a laparoscopic left nephroureterectomy and bladder resection in June 2017. During the operation, the NIRF imaging system was used to evaluate the border of the kidney parenchyma isthmus after ligation of the left kidney vasculature supply. Interestingly, the dominant region of the right kidney showed strong ICG fluorescence as compared to the left kidney region. With the assistance of ICG-based NIRF imaging, isthmus division was performed with monopolar scissors and adequate hemostasis was obtained by electrocautery coagulation. This is the first report of use of an ICG-based NIRF imaging system and this novel approach can help to demarcate the left moiety isthmus from right one with more certainty.
Delayed-Onset Seizure in a Mild Quetiapine Overdose: Report of a Case and Review of the Literature
Authors: Jason A Chen, Katherine M Unverferth, Erick H Cheung
Journal: Case Rep Psychiatry (2018)
MeSH terms: Case Reports

Among atypical antipsychotics, quetiapine is commonly prescribed and considered to have a favorable side effect and safety profile. Here, we report the case of a patient who developed a generalized tonic-clonic seizure 28 hours following ingestion of 1,400 mg of quetiapine. Review of the literature identifies delayed-onset seizure as a potential complication of quetiapine overdose. Unique to this case, delayed-onset seizures occurred in a patient with a relatively low dose of quetiapine and no obvious toxidrome, suggesting that this reaction may be an important consideration in the management of quetiapine overdose. The pharmacokinetics and pharmacodynamics of quetiapine may explain this unusual phenomenon.
Oral care and prevention of pneumonia after withdrawal of nasogastric tube feeding in three elderly patients with psychiatric disorders
Authors: Atsushi Hamuro, Minoru Honda, Ryuichi Tanaka
Journal: Clin Case Rep (2017)
Keywords: elderly patients, feeding tube, oral care, pneumonia, psychiatric disorders
MeSH terms: Case Reports

We investigated the effect of oral care on the prevention of pneumonia using a clinical scoring scale in elderly patients with psychiatric disorders after the withdrawal of nasogastric feeding tubes. Notably, oral care was effective in preventing pneumonia relapse in these patients.
Case Report: Spontaneous Fetal Demises at Third Trimester of Pregnancy Due to a Double Lopped Nuchal Cord in Camelus dromedarius
Authors: Young-Bum Son, Mohammad Shamim Hossein, Xianfeng Yu, Yeon Ik Jeong, P Olof Olsson, Woo Suk Hwang
Journal: Front Vet Sci (2022)
Keywords: abortion, camels, clone, nuchal cord, third trimester
MeSH terms: Case Reports

The umbilical cord acts as the critical lifeline of the developing fetus by providing nutrients and oxygen to it. Umbilical cord abnormalities are considered the leading cause of stillbirth in humans, but information on stillbirths associated with umbilical cord abnormalities is very scant in the clinical practice of animals. Here, we described a case of fetal demise in camels indicated to be caused by fetal death from strangulation by its umbilical cord, which is commonly known as the nuchal cord. A pregnant camel at its 36 weeks of gestation spontaneously aborted a single fetus. The camel was 5 years old and nullipara. A 6-day-old cloned embryo was transferred transcervically to the recipient. Pregnancy was confirmed 50 days after embryo transfer by ultrasonography, and the pregnant camel was maintained under a standard nutritional plan. The neck of the aborted fetus was strangulated tightly by a double loop of the umbilical cord. There was no congenital anomaly or other malformation in the fetus. We concluded that the nuchal cord was tightly coiled around the neck of the fetus and interfered with the blood flow in the fetus by collapsing the umbilical vein and subsequently causing fetal death and abortion. To the authors' knowledge, this is the first reported case of a nuchal cord in camels.
Arch translocation and the intra-arch elephant-trunk technique with collared graft for extended chronic dissecting aortic aneurysm
Authors: Shigeru Ikenaga, Akihito Mikamo, Tomoaki Kudo, Hiroshi Kurazumi, Ryo Suzuki, Kimikazu Hamano
Journal: J Cardiothorac Surg (2013)
MeSH terms: Aorta, Thoracic / surgery, Aortic Aneurysm, Thoracic / surgery, Cardiac Surgical Procedures / methods, Vascular Grafting / methods, Case Reports, Aortic Valve Insufficiency / surgery, Humans, Male, Middle Aged

Management of extensive, chronic, dissecting aortic aneurysms after prior repair of the ascending aorta presents a technical challenge for surgeons. A symptomatic 64-year-old patient was admitted for elective surgical repair of an aortic annular dilatation, causing severe aortic regurgitation, and a Crawford type II extended thoracoabdominal aneurysm, 4 years after he underwent primary repair of an acute aortic dissection. The aorta was diffusely dilated, and there were no sites beyond the distal aortic arch where anastomosis could be performed. We successfully performed total aortic replacement with a 2-stage strategy, using an arch translocation technique and an intra-arch elephant-trunk technique.
Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature
Authors: Aidé Tamara Staines Boone, Ivan K Chinn, Carmen Alaez-Versón, Marco A Yamazaki-Nakashimada, Karol Carrillo-Sánchez, María de la Luz Hortensia García-Cruz, M Cecilia Poli, M Edith González Serrano, Edgar A Medina Torres, David Muzquiz Zermeño, Lisa R Forbes, Francisco J Espinosa-Rosales, Sara E Espinosa-Padilla, Jordan S Orange, Saul Oswaldo Lugo Reyes
Journal: Front Pediatr (2019)
Keywords: dna repair defects, case series, clinical spectrum, inborn error of immunity, ligase iv deficiency, primary immunodeficiency

DNA repair defects are inborn errors of immunity that result in increased apoptosis and oncogenesis. DNA Ligase 4-deficient patients suffer from a wide range of clinical manifestations since early in life, including: microcephaly, dysmorphic facial features, growth failure, developmental delay, mental retardation; hip dysplasia, and other skeletal malformations; as well as a severe combined immunodeficiency, radiosensitivity, and progressive bone marrow failure; or, they may present later in life with hematological neoplasias that respond catastrophically to chemo- and radiotherapy; or, they could be asymptomatic. We describe the clinical, laboratory, and genetic features of five Mexican patients with LIG4 deficiency, together with a review of 36 other patients available in PubMed Medline. Four out of five of our patients are dead from lymphoma or bone marrow failure, with severe infection and massive bleeding; the fifth patient is asymptomatic despite a persistent CD4+ lymphopenia. Most patients reported in the literature are microcephalic females with growth failure, sinopulmonary infections, hypogammaglobulinemia, very low B-cells, and radiosensitivity; while bone marrow failure and malignancy may develop at a later age. Dysmorphic facial features, congenital hip dysplasia, chronic liver disease, gradual pancytopenia, lymphoma or leukemia, thrombocytopenia, and gastrointestinal bleeding have been reported as well. Most mutations are compound heterozygous, and all of them are hypomorphic, with two common truncating mutations accounting for the majority of patients. Stem-cell transplantation after reduced intensity conditioning regimes may be curative.
Obstructive sleep apnea presenting as pseudopheochromocytoma
Authors: Hela Marmouch, Sondes Arfa, Sameh Graja, Tensim Slim, Ines Khochtali
Journal: Pan Afr Med J (2016)
Keywords: obstructive sleep apnea, catecholamines, hypertension, pheochromocytoma
MeSH terms: Adrenal Gland Neoplasms / diagnosis, Pheochromocytoma / diagnosis, Sleep Apnea, Obstructive / diagnosis, Case Reports, Continuous Positive Airway Pressure / methods, Female, Humans, Middle Aged, Polysomnography / methods, Sleep Apnea, Obstructive / therapy, Snoring / etiology, Tomography, X-Ray Computed

A 52-year-old female with a history of poorly controlled resistant hypertension was admitted to our hospital with severe hypertension. She had a history of fatigue and intermittent episodes of palpitations. Laboratory evaluation was significant for elevated 24-h urinary catecholamine levels (3,5 times the upper normal levels). This case was presenting with a clinical and biochemical picture indistinguishable from that of pheochromocytoma. However, neither computed tomography nor meta-iodo-benzyl-guanidine scintigraphy detected any catecholamine-producing tumor in or outside the adrenal glands. Our patient was screened with full polysomnography because of heavy snoring, daytime somnolence and obesity. It revealed severe obstructive sleep apnea syndrome. After three months of continuous positive airway pressure therapy, the patient experienced resolution of his presenting symptoms, improved blood pressure control and normalization of his urinary catecholamine levels. This case highlights sleep disordered breathing as a potentially reversible cause of pseudo-pheochromocytoma.
Identification of Dynamic Patterns of Personal Positions in a Patient Diagnosed With Borderline Personality Disorder and the Therapist During Change Episodes of the Psychotherapy
Authors: Augusto Mellado, Claudio Martínez, Alemka Tomicic, Mariane Krause
Journal: Front Psychol (2022)
Keywords: change episodes, dynamic patterns, process and outcomes, subjective change, voices and personal positions

Personal positions and voices of a patient diagnosed with borderline personality disorder (BPD) and the therapist during long-term psychotherapy were studied aiming to find differences in the patterns formed in these aspects of subjectivity according to the level of elaboration of the change episodes achieved by the patient. This case study considered a stage of qualitative analysis where change episodes of the patient were traced through the Change Episodes Model. Later, through the Model of Analysis of Discursive Positioning in Psychotherapy (MAPP), the voices and personal positions of the patient and her therapist were identified in each of the change episodes. In the stage of quantitative analysis, dynamic patterns in the voices and personal positions were established, accounting for hypothetical attractors using the Space State Grid (SSG) technique in each of the three different levels of subjective elaboration that constitute the change episodes. The results established differentiated dynamic patterns in the change episodes, coherent with the patient's change process, and formation of propositive/reflective specific patterns as the patient evolved in the three different levels of subjective elaboration. The above suggests that a subjective transformation process is displayed, and this is manifested in the different voices and personal positions that emerged as the change episodes evolve. The identified dynamic patterns can be considered nonlinear and emergent subjective exchanges between the patient and the therapist throughout the psychotherapy.
Use of Endoscopic Ultrasound in a Diagnostic Dilemma: Metastatic Breast Cancer to the Stomach
Authors: Laura L Ulmer, Ian Cormier, Lokesh K Jha, Shailender Singh, Kurt W Fisher, Alexander T Hewlett
Journal: Case Rep Gastrointest Med (2018)
MeSH terms: Case Reports

A 55-year-old woman presented with persistent nausea, vomiting, and weight loss previously attributed to Ménétrier's disease. On further workup, she was found to have metastatic lobular breast carcinoma causing gastric outlet obstruction, diagnosed by endoscopic ultrasound with fine needle aspiration after previous gastric mucosal biopsies were unremarkable. In most reported cases of gastric metastasis from breast cancer, a diagnosis was established by mucosal biopsy. This case is an important reminder that mucosal biopsies can be negative in about 20% of patients with gastric metastasis, which may lead to a delay in diagnosis and treatment. Gastroenterologists should be diligent in taking deeper biopsies if there is a suspicion for gastric metastasis.
Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology?
Authors: Timothy Andrew Walsh, Krishna Revanna Gopagondanahalli, Atul Malhotra
Journal: Case Rep Pediatr (2017)
MeSH terms: Case Reports

Introduction:
Congenital lobar emphysema (CLE) and Williams-Beuren Syndrome are two rare conditions that have only been reported together in a single case study.
Case presentation:
We report another case of a male Caucasian newborn with nonspecific initial respiratory distress, with detection of CLE on repeat chest X-ray on Day 25 of life and concurrent ventricular septal defect, supravalvular aortic stenosis, and branch pulmonary stenosis, in whom a 7q11.23 deletion consistent with Williams-Beuren Syndrome was made.
Conclusion:
A diagnosis of congenital lobar emphysema should prompt further screening for congenital heart disease and genetic deletion, and further research is needed to investigate the role of elastin gene mutation in the development of the neonatal lung.
Unusual phylogenetic tree and circulating actionable ESR1 mutations in an aggressive luminal/HER2-low breast cancer: Case report
Authors: Matteo Allegretti, Vittoria Barberi, Cristiana Ercolani, Antonello Vidiri, Elena Giordani, Gennaro Ciliberto, Patrizio Giacomini, Alessandra Fabi
Journal: Front Oncol (2023)
Keywords: esr1, her2, breast cancer, cancer evolution, liquid biopsy, molecular tumor board
MeSH terms: Case Reports

Under therapeutic pressure aggressive tumors evolve rapidly. Herein, a luminal B/HER2-low breast cancer was tracked for >3 years during a total of 6 largely unsuccessful therapy lines, from adjuvant to advanced settings. Targeted next generation sequencing (NGS) of the primary lesion, two metastases and 14 blood drawings suggested a striking, unprecedented coexistence of three evolution modes: punctuated, branched and convergent. Punctuated evolution of the trunk was supported by en bloc inheritance of a large set (19 distinct genes) of copy number alterations. Branched evolution was supported by the distribution of site-specific SNVs. Convergent evolution was characterized by a unique asynchronous expansion of three actionable (OncoKB level 3A) mutations at two consecutive ESR1 codons. Low or undetectable in all the sampled tumor tissues, ESR1 mutations expanded rapidly in blood during HER2/hormone double-blockade, and predicted life-threatening local progression at lung and liver metastatic foci. Dramatic clinical response to Fulvestrant (assigned off-label exclusively based on liquid biopsy) was associated with clearance of all 3 subclones and was in stark contrast to the poor therapeutic efficacy reported in large liquid biopsy-informed interventional trials. Altogether, deconvolution of the tumor phylogenetic tree, as shown herein, may help to customize treatment in breast cancers that rapidly develop refractoriness to multiple drugs.
Case report: Sarcocystis speeri, Aspergillus fumigatus, and novel Treponema sp. infections in an adult Atlantic spotted dolphin ( Stenella frontalis)
Authors: Sarah Emily Balik, Robert James Ossiboff, Nicole Indra Stacy, James F X Wellehan, Elodie E Huguet, Aitor Gallastegui, April L Childress, Brittany E Baldrica, Brittany A Dolan, Laurie E Adler, Michael Thomas Walsh
Journal: Front Vet Sci (2023)
Keywords: apicomplexa, case report, cetacean·marine mammal, encephalitis, glossitis, pneumonia, spirochaetaceae, trichocomaceae
MeSH terms: Case Reports

A complete postmortem examination, including a computed tomography scan "virtopsy" (virtual necropsy), gross necropsy, cytology, histology, and molecular diagnostics were performed to investigate the cause of death of a deceased adult male Atlantic spotted dolphin (Stenella frontalis) that stranded on Pensacola Beach, Florida, USA in February 2020. Significant findings included chronic inflammation of the meninges, brain, and spinal cord with intralesional protozoa (identified as Sarcocystis speeri via 18S rRNA and ITS-1 sequences), suppurative fungal tracheitis and bronchopneumonia (identified as Aspergillus fumigatus via ITS-2 gene sequence) and ulcerative bacterial glossitis (associated with a novel Treponema species, Candidatus Treponema stenella, identified via 23S rRNA gene sequence). This is the first reported case of S. speeri in a marine mammal. Little is understood about the epidemiology of S. speeri, including the identity of its intermediate hosts. The findings of this case suggest that S. frontalis may be a capable aberrant host and experience morbidity and mortality from this parasite. It is suspected that the novel Treponema and Aspergillus fumigatus infections were opportunistic or secondary to immunosuppression, either due to S. speeri infection or other co-morbidities.