OpenMed/multicare-articles huggingface dataset:
ITS polymorphisms shed light on hybrid evolution in apomictic plants: a case study on the Ranunculus auricomus complex
Authors: Ladislav Hodač, Armin Patrick Scheben, Diego Hojsgaard, Ovidiu Paun, Elvira Hörandl
Journal: PLoS One (2014)
MeSH terms: DNA, Intergenic / genetics, Evolution, Molecular, Hybridization, Genetic, Ranunculus / genetics, Research Support, Non-U.S. Gov't, Phylogeography, Polymorphism, Genetic, Polyploidy, Reproduction, Asexual / genetics, DNA, Intergenic

The reconstruction of reticulate evolutionary histories in plants is still a major methodological challenge. Sequences of the ITS nrDNA are a popular marker to analyze hybrid relationships, but variation of this multicopy spacer region is affected by concerted evolution, high intraindividual polymorphism, and shifts in mode of reproduction. The relevance of changes in secondary structure is still under dispute. We aim to shed light on the extent of polymorphism within and between sexual species and their putative natural as well as synthetic hybrid derivatives in the Ranunculus auricomus complex to test morphology-based hypotheses of hybrid origin and parentage of taxa. We employed direct sequencing of ITS nrDNA from 68 individuals representing three sexuals, their synthetic hybrids and one sympatric natural apomict, as well as cloning of ITS copies in four representative individuals, RNA secondary structure analysis, and landmark geometric morphometric analysis on leaves. Phylogenetic network analyses indicate additivity of parental ITS variants in both synthetic and natural hybrids. The triploid synthetic hybrids are genetically much closer to their maternal progenitors, probably due to ploidy dosage effects, although exhibiting a paternal-like leaf morphology. The natural hybrids are genetically and morphologically closer to the putative paternal progenitor species. Secondary structures of ITS1-5.8S-ITS2 were rather conserved in all taxa. The observed similarities in ITS polymorphisms suggest that the natural apomict R. variabilis is an ancient hybrid of the diploid sexual species R. notabilis and the sexual species R. cassubicifolius. The additivity pattern shared by R. variabilis and the synthetic hybrids supports an evolutionary and biogeographical scenario that R. variabilis originated from ancient hybridization. Concerted evolution of ITS copies in R. variabilis is incomplete, probably due to a shift to asexual reproduction. Under the condition of comprehensive inter- and intraspecific sampling, ITS polymorphisms are powerful for elucidating reticulate evolutionary histories.
Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis
Authors: Omid Kohannim, Jane Peredo, Katrina M Dipple, Fabiola Quintero-Rivera
Journal: Case Rep Genet (2011)
MeSH terms: Case Reports

We present the case of an 18-month-old boy with dysmorphic facial features, developmental delay, growth retardation, bilateral clubfeet, thrombocytopenia, and strabismus, whose array CGH analysis revealed concurrent de novo trisomy 10p11.22p15.3 and monosomy 7p22.3. We describe the patient's clinical presentation, along with his cytogenetic analysis, and we compare the findings to those of similar case reports in the literature. We also perform a bioinformatic analysis in the chromosomal regions of segmental aneuploidy to find genes that could potentially explain the patient's phenotype.
A novel splicing mutation of KIT results in piebaldism and auburn hair color in a Chinese family
Authors: Yong-jia Yang, Rui Zhao, Xin-yu He, Li-ping Li, Ke-wei Wang, Liu Zhao, Ming Tu, Jin-song Tang, Zhi-guo Xie, Yi-min Zhu
Journal: Biomed Res Int (2013)
MeSH terms: Alternative Splicing / genetics, Hair Color / genetics, Mutation / genetics, Piebaldism / diagnosis, Piebaldism / genetics, Proto-Oncogene Proteins c-kit / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, Child, China, Female, Humans, Male, Pedigree, Proto-Oncogene Proteins c-kit

Piebaldism is a rare autosomal dominant disorder of melanocyte development, which is mostly caused by KIT gene. The key characteristics of piebaldism include localized poliosis, congenital leukoderma, and other variable manifestations. The previous study has illustrated that the homogeneous MC1R (a gene which is associated with the hair color) variant (p.I120T) coordinating with KIT mutation may lead to auburn hair color and piebaldism. In this study, we have investigated a Chinese family with piebaldism and auburn hair color; the mutation screening of KIT and MC1R genes identified that only a splicing mutation (c. 2484+1G>A) of KIT gene cosegregated with the auburn hair color and piebaldism. The data of this study and others suggests that the KIT mutation may causes of the auburn hair color in the piebaldism patients.
Ceruminous adenoma of the external auditory canal: 9 cases series with imaging and pathologic findings
Authors: Yifan Yang, Honggang Liu, Jugao Fang, Yongxin Li, Shubin Chen
Journal: Front Oncol (2023)
Keywords: adenoma, ceruminous glands, clinical feature, external auditory canal, pathological feature

Objectives:
Ceruminous adenoma is a rare benign tumor of the external auditory canal. This study aimed to present the clinical characteristics, imaging findings, pathological results and the management outcomes of the ceruminous adenoma.
Study design:
Retrospective case series review.
Setting:
Tertiary referral center.
Patients and methods:
Patients undergoing surgery for ceruminous adenoma of the external auditory canal between the years 2004 to 2018. All patients with ceruminous adenoma were analyzed for demographic, clinical, radiological features and pathologic findings. The outcomes of the management were also evaluated.
Results:
Nine patients with ceruminous adenoma were included in the study. Hearing loss was the most common complaint (5/9, 56%), followed by otalgia (4/9, 44%), pruritus (4/9, 44%), and otorrhea (2/9, 22%). The tumors originated mostly from the cartilaginous portion of the external auditory canal (8/9, 89%) and merely from the bony portion of the external auditory canal (1/9, 11%). Pathohistological study indicated that the ceruminous adenomas were divided into three types: the ceruminous gland adenoma (6/9, 67%), the ceruminous pleomorphic adenoma (2/9, 22%) and the ceruminous syringocystadenoma papilliferum (1/9, 11%). No recurrence was found during follow-up for two to fifteen years after surgical resection.
Conclusion:
Ceruminous adenomas are rare entities. They originate mainly from the cartilaginous portion of the EAC, but occasionally from the bony portion of the EAC. The surgical section with enough margin is adequate for management of these tumors.
Acyclovir nephrotoxicity: a case report highlighting the importance of prevention, detection, and treatment of acyclovir-induced nephropathy
Authors: Raymond Fleischer, Michael Johnson
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Acute kidney injury is an unfortunate complication of acyclovir therapy secondary to crystal-induced nephropathy. It is characterized by a decrease in renal function that develops within 24-48 hours of acyclovir administration indicated by a rapid rise in the serum creatinine. Failure to quickly realize this as an etiology of acute kidney injury can lead to excessive morbidity to the patient. The case described in this vignette is an example of the clinical manifestation of acyclovir crystal obstructive nephrotoxicity. We will briefly discuss the pathophysiology, diagnosis, prevention, and management of patients that present with acyclovir nephrotoxicity.
Impairments in Episodic-Autobiographical Memory and Emotional and Social Information Processing in CADASIL during Mid-Adulthood
Authors: Angelica Staniloiu, Friedrich G Woermann, Hans J Markowitsch
Journal: Front Behav Neurosci (2014)
Keywords: chromosome 19, cognitive flexibility, episodic memory, gene mutation, problem solving, social information processing

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) - is the most common genetic source of vascular dementia in adults, being caused by a mutation in NOTCH3 gene. Spontaneous de novo mutations may occur, but their frequency is largely unknown. Ischemic strokes and cognitive impairments are the most frequent manifestations, but seizures affect up to 10% of the patients. Herein, we describe a 47-year-old male scholar with a genetically confirmed diagnosis of CADASIL (Arg133Cys mutation in the NOTCH3 gene) and a seemingly negative family history of CADASIL illness, who was investigated with a comprehensive neuropsychological testing battery and neuroimaging methods. The patient demonstrated on one hand severe and accelerated deteriorations in multiple cognitive domains such as concentration, long-term memory (including the episodic-autobiographical memory domain), problem solving, cognitive flexibility and planning, affect recognition, discrimination and matching, and social cognition (theory of mind). Some of these impairments were even captured by abbreviated instruments for investigating suspicion of dementia. On the other hand the patient still possessed high crystallized (verbal) intelligence and a capacity to put forth a façade of well-preserved intellectual functioning. Although no definite conclusions can be drawn from a single case study, our findings point to the presence of additional cognitive changes in CADASIL in middle adulthood, in particular to impairments in the episodic-autobiographical memory domain and social information processing (e.g., social cognition). Whether these identified impairments are related to the patient's specific phenotype or to an ascertainment bias (e.g., a paucity of studies investigating these cognitive functions) requires elucidation by larger scale research.
Unexplained findings of kayser-fleischer-like rings in a patient with cryptogenic cirrhosis
Authors: Mahreema Jawairia, Miral Subhani, Ghulam Siddiqui, Apsara Prasad, Ghulamullah Shahzad, Kaleem Rizvon, Paul Mustacchia
Journal: Case Rep Gastrointest Med (2012)
MeSH terms: Case Reports

Cryptogenic cirrhosis (CC) is defined as cirrhosis occurring in an individual without an identifiable cause of liver disease, such as excessive alcohol consumption, viral hepatitis infection, hemochromatosis, autoimmune hepatitis, primary biliary cirrhosis, primary sclerosing cholangitis, chronic intake of medications that could induce cirrhosis, alpha-1-antitrypsin deficiency, Wilson's disease, or any other rare cause of cirrhosis according to the clinical context. Cryptogenic cirrhosis is a common cause of liver-related morbidity and mortality in the United States. Nonalcoholic fatty liver disease is now recognized as the most common cause of cryptogenic cirrhosis. A biopsy specimen is also important for detecting histological advanced disease, which may be clinically silent and undetected by liver-related tests or diagnostic imaging. We are presenting an unusual case of a patient with cryptogenic cirrhosis found to have Kayser-Fleischer-like rings without evidence of Wilson's disease.
Case Report: Potential role of selective venous sampling for liquid biopsy in complex clinical settings: Three case presentations
Authors: Vladimira Tichà, Gianluigi Patelli, Gianpaolo Basso, Aurelio Prino, Elena Repetti, Maria Grugni, Bruno Damascelli
Journal: Front Genet (2023)
Keywords: liquid biopsy, ctdna, glioblastoma, pancreatic cancer, prostate cancer, venous sampling
MeSH terms: Case Reports

Tumor mutation profiling from a blood sample, known as liquid biopsy, is a reality that has already been approved for some cancers. This molecular diagnostic method complements tissue biopsy but is less invasive and therefore more easily applied, especially during tumor evolution. Its use should allow detection of residual disease, evaluation of treatment response or resistance, and selection of targeted treatments. However, implementation of liquid biopsy in routine clinical practice is hindered by unsolved issues, one of which is the scarcity of circulating tumor DNA in blood samples drawn from peripheral veins. To address this problem, we propose minimally invasive selective venous sampling from the region of interest, as used for some hormonal studies and for mapping of endocrine tumors. Intuitively, selective sampling should improve the sensitivity of liquid biopsy by avoiding the dilution of tumor biomarkers that occurs in the peripheral circulation. We report three cases that illustrate the potential utility of selective liquid biopsy in complex clinical settings, providing implications for diagnosis and treatment as well as for monitoring over time, disease localization, identification of drug resistance, and differential diagnosis.
Correction of Deep Overbite by Using a Modified Nance Appliance in an Adult Class II Division 2 Patient with Dehiscence Defect
Authors: Zhujun Li, Zhengxi Chen, Jian Sun, Li'an Yang, Zhenqi Chen
Journal: Case Rep Dent (2018)
MeSH terms: Case Reports

A modified Nance Appliance (MNA) is introduced as a treatment option for an adult class II division 2 malocclusion (CII/2) patient with deep overbite and dehiscence on the facial root surface of retroclined upper incisors through the cone-beam computed tomography (CBCT). Indications for this modified MNA as well as a brief description of fabrication procedure and biomechanical analysis of the treatment effects are shown in detail. Root control and absolute intrusion without enlarging the bony defect were achieved. The treatment results were satisfying and favorable.
Unusual Case of a Torted Mesenteric Fibroid
Authors: Rawan Bajis, Gregg Eloundou
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Extrauterine leiomyomas are very rare and present a clinical and diagnostic challenge due to their unusual growth patterns and behaviours. A 47-year-old woman was transferred to our tertiary specialist obstetrics and gynaecology hospital with acute abdominal pain and a palpable abdominal mass. She was taken immediately to theatre with the presumptive diagnosis of an ovarian torsion. Intraoperatively, a large necrotic mass originating from the mesentery and attachments to the bowel at the ileocaecal junction was noted. When converted to laparotomy due to limited access and poor visualisation, the uterus, ovaries, and tubes were found to be normal. A right partial hemicolectomy was performed with the assistance of the colorectal surgeon due to suspicion of bowel malignancy. Histology revealed a benign infarcted leiomyoma with adhesions to the adjacent ileum. The diagnosis of a primary torted mesenteric fibroid was made.
A durable response to programmed cell death 1 blockade in a multidrug-resistant recurrent ovarian cancer patient with HLA-B44 supertype: A case report
Authors: Xukai Luo, Yating Sun, Jiajia Li, Qidi Jiang, Lei Yuan, Ting Li, Mo Chen, Liangqing Yao
Journal: Front Immunol (2022)
Keywords: hla-b44 supertype, pd-l1, chemotherapy resistant, immunotherapy, ovarian clear cell carcinoma, platinum resistance recurrence
MeSH terms: Antineoplastic Agents, Immunological / therapeutic use, Ovarian Neoplasms / drug therapy, Ovarian Neoplasms / genetics, Case Reports, Research Support, Non-U.S. Gov't, Apoptosis, B7-H1 Antigen / metabolism, Carcinoma, Ovarian Epithelial, Female, HLA-B44 Antigen, Humans, Immune Checkpoint Inhibitors, Neoplasm Recurrence, Local / drug therapy, Platinum, Programmed Cell Death 1 Receptor / metabolism, B7-H1 Antigen, Programmed Cell Death 1 Receptor, HLA-B44 Antigen, Antineoplastic Agents, Immunological, Immune Checkpoint Inhibitors, Platinum

Relapsed/refractory ovarian cancer, especially platinum resistance recurrence, remains a major therapeutic challenge. Here, we present the case of a patient with recurrent ovarian clear cell carcinoma (OCCC) who failed to respond to multiline chemotherapy and target therapy but achieved an immune complete response (iCR) with programmed cell death 1 (PD-1) inhibitor treatment. The overall survival (OS) was 59 months, and the recurrence-free survival (RFS) was 34 months after immunotherapy, which was counting. Meantime, molecular testing results revealed that traditional biomarkers for immunotherapy, including PD-L1 expression, microsatellite instability (MSI), and tumor mutational burden (TMB), were negative. HLA-B44 (B*18:01) supertype was confirmed by sequence-based HLA typing. This case raises the possibility that ovarian cancer patients with multidrug resistance may still benefit from PD-1 inhibitor therapy, even if PD-L1 pathology is negative.
Agarose cell block technique as a complementary method in the diagnosis of fungal osteomyelitis in a dog
Authors: D S Zanoni, F Grandi, D Q Cagnini, S M G Bosco, N S Rocha
Journal: Open Vet J (2012)
Keywords: aspergillosis, bone, cell block, cytology, dog
MeSH terms: Case Reports

A 7-year-old Labrador Retriever female dog presenting left forelimb lameness for one day was admitted to the Veterinary Hospital (UNESP-Botucatu) for clinical evaluation. Several tests, including blood and image analysis, microbiological culture and cytology of lytic areas of affected bone were made in order to establish a diagnosis. Serum biochemical profile revealed increased levels of liver enzymes, plasma globulin, creatine kinase (CK) and calcium. Hemogram revealed anemia and leukocytosis; left humerus image analysis revealed an osteolytic lesion and cytology revealed a suppurative periostitis. Differential diagnosis was a nonspecific infectious inflammatory process or osteosarcoma. Since it was not possible to achieve a definitive diagnosis and there was a highly suspicious for an infectious agent, an agarose cell block of the bone marrow fine-needle aspiration was made. The cytological examination of cell block presented similar findings as described previously. However, additional stains including periodic acid-Schiff (PAS) were positive for fungal hyphae, which rendered a diagnosis of fungal osteomyelitis due to Aspergillus spp. This case report illustrates an uncommon cause of osteomyelitis for breed that was diagnosed by an underused method in veterinary medicine.
A Case of Ruptured Decidualized Ovarian Endometrioma: Usefulness of Serial MRI for Determining Adequate Management
Authors: Saki Yamamoto, Tomohiro Kikuchi, Hiroyuki Fujii, Yuko Otake, Mitsuru Matsuki, Risa Narumi, Masashi Endo, Hiroyuki Fujiwara, Harushi Mori
Journal: Case Rep Obstet Gynecol (2022)
MeSH terms: Case Reports

Decidualization can originate in ovarian endometrioma by elevated serum progesterone levels during pregnancy, which mimics malignancy on ultrasonography. Moreover, decidualized ovarian endometrioma may rupture and cause acute abdominal pain during pregnancy. Magnetic resonance imaging (MRI) is reportedly useful in differentiating decidualized ovarian endometriomas from malignancies. However, to our knowledge, serial MRI of decidualized ovarian endometrioma before and after rupture has not been reported. Herein, we report the case of a 39-year-old woman with a ruptured decidualized ovarian endometrioma in which serial MRI was useful for adequate management. She had a history of right ovarian endometrioma. Transvaginal ultrasonography at 20 weeks of gestation showed the known right ovarian endometrioma with mural nodules that were not evident before pregnancy. MRI for further evaluation showed ovarian endometrioma with mural nodules with signals similar to those of the placenta. Based on the MRI findings, we diagnosed a decidualized ovarian endometrioma. At 27 weeks of gestation, she complained of sudden abdominal pain, for which MRI was performed. MRI showed disappearance of the ovarian endometrioma and bloody ascites, based on which we diagnosed a ruptured ovarian endometrioma. The abdominal pain subsided immediately, and a conservative observational treatment approach was taken. At 37 weeks of gestation, right ovarian cystectomy was performed simultaneously with an elective cesarean section, which revealed a ruptured decidualized ovarian endometrioma. Our findings demonstrate that the accurate diagnosis of a ruptured decidualized ovarian endometrioma on serial MRI can contribute to its management.
Severe Hyperbilirubinemia: A Rare Complication of Lyme Disease
Authors: Maarij Baig, Lin Zheng, Alka Farmer
Journal: Case Rep Gastrointest Med (2019)
MeSH terms: Case Reports

Gastrointestinal signs and symptoms are common in the early stages of Lyme disease. However, hyperbilirubinemia from Lyme disease is extremely uncommon. There are only two case reports in literature attributing Lyme disease to hyperbilirubinemia. Here we report a case of severe hyperbilirubinemia as the presenting symptom of Lyme disease. Other plausible etiologies have been ruled out after extensive workups, including liver biopsy. His hyperbilirubinemia gradually resolved after being started on doxycycline. With high incidence of Lyme disease, it should be considered for patients who present with hyperbilirubinemia in endemic areas with possible tick exposure.
Synthetic cartography for mapping biodiversity in the Mediterranean region: Sicily as a case study
Authors: Gianniantonio Domina, Giuseppe Venturella, Maria Letizia Gargano
Journal: PhytoKeys (2018)
Keywords: gis software, biological collections, data analysis, distribution, plants, spatial analysis

This paper proposes a new hierarchical land classification system for the mapping of species distribution at national or regional scales. Our integrative framework incorporates two hierarchical levels inferred from historical, climatic, geomorphological and geological attributes. The feasibility of this proposal is based on the use of historical collections and literature data, as well as on its ability to combine old low-precision data with more recent records of higher resolution. The system is set up for vascular plants, but it can also be used for other taxonomic groups. Furthermore, it has the potential for application to the whole Mediterranean region because it is based on information that is generally available in all Mediterranean countries. This model is tested with the distribution of loci classici of the Italian endemic plants occurring in Sicily.
Single-Kidney Transplant on VA-ECMO While Recovering from Post-Heart-Transplant Graft Failure
Authors: Gabriel Prada, Anjali Agarwal, Jose L Diaz-Gomez, Robert A Ratzlaff
Journal: Case Rep Crit Care (2018)
MeSH terms: Case Reports

Although no consensus exists on whether extracorporeal membrane oxygenation (ECMO) support is an indication for solid-organ transplantation other than heart and lung, this practice continues to be limited. We present a case of a 55-year-old man who was placed on venoarterial ECMO (VA-ECMO) during orthotopic heart transplantation (OHT) because of acute graft failure. Twenty-four hours later, the patient underwent deceased-donor renal transplantation (DDRT) while on VA-ECMO and had no complications. On post-DDRT day 2 (post-OHT day 3), the patient was successfully decannulated from VA-ECMO and ultimately discharged home. This case highlights the potential successful use of ECMO support during solid-organ transplantation other than heart and lung and the importance of trained providers and tailored anticoagulation. To the authors' knowledge, this is the first report of perioperative ECMO use during kidney transplantation after recent heart transplantation.