OpenMed/multicare-articles huggingface dataset:
Differential Dynamic Changes of Reduced Trait Model for Analyzing the Plastic Response to Drought Phases: A Case Study in Spring Wheat
Authors: Marwa N M E Sanad, Andrei Smertenko, Kimberley A Garland-Campbell
Journal: Front Plant Sci (2019)
Keywords: ros homeostasis, adaptive mechanisms, drought tolerance, dynamic changes, heritability, peroxisome proliferation, spring wheat

Current limited water availability due to climate changes results in severe drought stress and desiccation in plants. Phenotyping drought tolerance remains challenging. In particular, our knowledge about the discriminating power of traits for capturing a plastic phenotype in high-throughput settings is scant. The study is designed to investigate the differential performance and broad-sense heritability of a battery set of morphological, physiological, and cellular traits to understand the adaptive phenotypic response to drought in spring wheat during the tillering stage. The potential of peroxisome abundance to predict the adaptive response under severe drought was assessed using a high-throughput technique for peroxisome quantification in plants. The research dissected the dynamic changes of some phenological traits during three successive phases of drought using two contrasting genotypes of adaptability to drought. The research demonstrates 5 main findings: (1) a reduction of the overall dimension of the phenological traits for robust phenotyping of the adaptive performance under drought; (2) the abundance of peroxisomes in response to drought correlate negatively with grain yield; (3) the efficiency of ROS homeostasis through peroxisome proliferation which seems to be genetically programmed; and (4) the dynamics of ROS homeostasis seems to be timing dependent mechanism, the tolerant genotype response is earlier than the susceptible genotype. This work will contribute to the identification of robust plastic phenotypic tools and the understanding of the mechanisms for adaptive behavior under drought conditions.
Summary statement:
This study presents the estimated broad-sense heritability of 24 phenological traits under drought compared with non-stressed conditions. The results demonstrated a reduced model of the overall dimension of the phenological traits for phenotyping drought tolerant response including a novel trait (peroxisome abundance). Also, it displays that the adaptive mechanism through peroxisomes proliferation that is a genetic-dependent manner and related to the stress phase, since tolerant plants can sense the stress and maintain the cellular balance earlier than the sensitive plants.
Early onset lactating adenoma and the role of breast MRI: a case report
Authors: Stefano Magno, Daniela Terribile, Gianluca Franceschini, Cristina Fabbri, Federica Chiesa, Alba Di Leone, Melania Costantini, Paolo Belli, Riccardo Masetti
Journal: J Med Case Rep (2009)

Introduction:
Lactating adenoma is a benign condition, representing the most prevalent breast lesion in pregnant women and during puerperium; in this paper, a case of a woman with lactating adenoma occurring during the first trimester of pregnancy is reported. There have been no reports in the literature, according to our search, focusing on magnetic resonance imaging findings in cases of lactating adenomas. Also the early onset of the lesion during the first trimester of pregnancy is quite unusual and possibly unique.
Case presentation:
We report the case of a primiparous 30-year-old Caucasian woman, who noted an asymptomatic lump within her left breast during the 9th week of gestation, slightly increasing in size over the next few weeks. Ultrasound demonstrated a hypoecoic solid mass, hypervascularized and measuring 4 cm. On magnetic resonance imaging, performed in the first month after delivery, the lesion appeared as an ovoidal homogeneous mass, with regular margins and a significant contrast enhancement indicative of a giant adenoma.
Conclusion:
Magnetic resonance imaging could play an important role in the differential diagnosis of pregnancy-related breast lumps, particularly during puerperium, thus avoiding unnecessary surgical biopsies.
A Rare Case of Adult Rhabdomyosarcoma
Authors: Benjamin Sparreboom, Brendan Litton, Julian Yaxley
Journal: Pol J Radiol (2017)
Keywords: back pain, magnetic resonance imaging, rhabdomyosarcoma, urinary retention
MeSH terms: Case Reports

Background:
Rhabdomyosarcoma is a rare, soft tissue malignancy, diagnosed particularly in adults. It commonly metastasizes to the bone marrow. We present a rare case of an adult rhabdomyosarcoma which illustrates the importance of magnetic resonance imaging in identifying early changes in the internal bone structure.
Case report:
A 50-year-old male presented with acute urinary retention. The patient initially had a CT scan of the lumbar spine which only revealed a protrusion of the L5-S1 intervertebral disc and no apparent cause for the patient's symptoms. One week later, an MRI was performed which showed extensive bone marrow metastases throughout the lumbar spine and a soft tissue mass in the lower sacral region. The bony metastases were not evident on the CT scan and the soft tissue mass was out of the coverage area of the CT. Subsequent biopsy of the soft tissue mass was performed and histopathology concluded the tissue to be a rhabdomyosarcoma. Unfortunately, the patient died one week after diagnosis.
Conclusions:
Although adult rhabdomyosarcomas are very rare, this case highlights the advantage of MRI over CT in identifying early changes in the internal bone structure. Therefore, CT should not be relied upon to exclude bony metastases, particularly in the setting of primary cancer with a known tendency to metastasize to the bone marrow.
A Synchronous Pancreatic Metastasis from Renal Clear Cell Carcinoma, with Unusual CT Characteristics, Completely Regressed after Therapy with Sunitinib
Authors: Salvatore Lauro, Elisa Concetta Onesti, Riccardo Righini, Francesco Carbonetti, Antonio Cremona, Paolo Marchetti
Journal: Case Rep Med (2014)

We present a case report of a 75-years-old woman affected by renal clear cell carcinoma with a synchronous pancreatic metastasis and a metachronous lung metastasis. This case has two peculiarities. First the pancreatic metastasis was treated just with medical therapy, that is, Sunitinib, instead of the surgical therapy that is mostly considered. Secondly, the pancreatic lesion showed different characteristics on the computed tomography scan compared to the usual pancreatic metastases from renal clear cell carcinoma. The pancreatic metastasis totally regressed after medical treatment and nowadays, four years after the diagnosis, the patient is disease-free.
Mesenchymal Hamartoma in Children: A Diagnostic Challenge
Authors: Muhammad Rehan Khan, Larry A Binkovitz, Thomas C Smyrk, D Dean Potter Jr, Katryn N Furuya
Journal: Case Rep Pediatr (2019)
MeSH terms: Case Reports

Mesenchymal hamartoma is a benign tumor of the liver with a poorly understood pathogenesis. It is uncommon in older children, especially after 2 years of age. The signs and symptoms may be nonspecific; therefore, a high index of suspicion is required for diagnosis and treatment. We report a 5-year-old previously healthy male who presented with acute abdominal pain, fatigue, and fever. He was diagnosed with pneumonia initially and treated with antibiotics. A computed tomography (CT) scan done for evaluation of his persistent abdominal pain demonstrated a hepatic mass. Follow-up magnetic resonance imaging (MRI) of the liver demonstrated multiple serpiginous tubular-type structures, read as possible Caroli syndrome. He had a normal abdominal examination and normal biochemistries including alanine aminotransferase, aspartate aminotransferase, gamma-glutamyl transferase, alkaline phosphatase, and alpha-fetoprotein. He was referred to our institution for second opinion. On further review of his imaging studies, the lesion was thought to be a mesenchymal hamartoma. He subsequently underwent resection of the mass. Pathology confirmed the diagnosis of mesenchymal hamartoma.
Intraparenchymal cerebellar capillary hemangioma in a 32-year-old man: a case report
Authors: Dewa Putu Wisnu Wardhana, Steven Awyono, Christopher Lauren, Rohadi Muhammad Rosyidi, Herman Saputra
Journal: Front Surg (2023)
Keywords: capillary hemangioma, immunohistochemistry, intracranial tumor, neurosurgery, oncology
MeSH terms: Case Reports

The authors present an unusual case of a 32-year-old adult male with a capillary hemangioma, which developed within the left cerebellar parenchyma. The histopathological examination reveals a mass mostly formed by the proliferation of capillaries, lined by a layer of flat-plump endothelial cells, some branching and dilating large capillaries, forming a lobulated structure separated by fibrocollagenous connective tissue. Immunohistochemistry examination with CD31 and S100 was positive on the endothelial and stromal cells, respectively, and negative S100 on the endothelial cells. Although rare, capillary hemangioma should be one of the differential diagnoses for diagnosing intra-axial lesions in the cerebellar region. Confirmation of the histopathological characteristic is necessary to determine the diagnosis of capillary hemangioma and exclude other differential diagnoses.
Concurrent Benign Metastasizing Leiomyoma in the Abdominal Wall and Pelvic Cavity: A Case Report and Review of the Literature
Authors: Yue Li, Tongtong Xu, Mingdan Wang, Lili Jiang, Qifang Liu, Kuiran Liu
Journal: Front Surg (2022)
Keywords: benign, diagnosis, differential diagnosis, metastasizing leiomyoma, pathological characteristics, treatment
MeSH terms: Case Reports

Benign metastatic leiomyoma (BML) is a histologically benign disease with invasive biological behavior. Most patients are women of childbearing age with a history of uterine leiomyoma. The progress of the disease is relatively slow, the prognosis is good, and most patients can survive for a long time. The lung is the common metastatic site, and BML with metastatic lesions outside the lung is very rare. A 37-year-old woman with multiple BML in the abdominal wall and pelvic cavity after uterine leiomyoma surgery was admitted to our hospital. Combined with the clinical data of this case and reviewing the relevant literature, this paper discusses the pathological characteristics, diagnosis, differential diagnosis, and treatment of BML.
Infantile-Onset Charcot-Marie-Tooth Disease With Pyramidal Features and White Matter Abnormalities Due to a De novo MORC2 Gene Variant: A Case Report and Brief Review of the Literature
Authors: Ivana Frongia, Susanna Rizzi, Margherita Baga, Laura Maria Ceteroni, Carlotta Spagnoli, Grazia Gabriella Salerno, Daniele Frattini, Milja Kaare, Francesco Pisani, Carlo Fusco
Journal: Front Neurol (2021)
Keywords: charcot–marie–tooth, morc2 gene, axonal neuropathy, pyramidal signs, white matter abnormalities
MeSH terms: Case Reports

Background: Charcot-Marie-Tooth (CMT) is the most frequent group of inherited neuropathies and includes several heterogeneous phenotypes. Over 80 causative genes have been described so far. Variants in the microrchidia family CW-type zinc finger 2 (MORC2) gene have been described in several axonal polyneuropathy (CMT2) patients with childhood or adult onset. Occasionally more complex phenotypes with delayed milestones, severe hypotonia, intellectual disability, dystonic postures, pyramidal signs, and neuroimaging abnormalities have been reported. Case Presentation: We report on a patient with a de novo MORC2 gene variant (c.1181A>G p.Tyr394Cys) with a history of developmental delay, axial hypotonia, progressive gait disorder with dystonic features, and intentional tremor. At the age of 8 years, he showed bilateral pyramidal signs (clonus, increased tendon reflexes, and Babinski sign) and bilateral pes cavus. The first neuroimaging performed at the age of 3 years demonstrated white matter abnormalities in the posterior periventricular zone, in the frontal lobes bilaterally and at the midbrain, stable during childhood and adolescence. Nerve conduction studies (NCS) were negative until the age of 15 years, when a sensory axonal neuropathy appeared. The association between pyramidal signs and neuropathy due to the MORC2 gene variant is increasingly being highlighted, although a neuroradiological correlate is evident only in about half of the cases. Longitudinal nerve conduction velocity (NCV) are helpful to identify late-onset features and provide useful information for diagnosis in patients with rare neurogenetic disorders. Conclusions: Characterization of complex neurological disorders is important to delineate the expanding phenotypic spectrum of MORC2-related disease, to confirm if possible the pathogenicity of the variants and to deepen the genotype-phenotype correlation.
T-Cell B-Rich Lymphoma Presenting as Renal Colic with Positivity of CD3
Authors: Hasan Nabil Al Houri, Tagrid Younes Ahmad, Sarah Zaher Adden, Wisam Hikmat Assad, Ammar Raiy
Journal: Int J Hematol Oncol Stem Cell Res (2019)
Keywords: t-cell-rich b-cell lymphoma, b-cell lymphoma, tcrbcl, renal colic
MeSH terms: Case Reports

T-Cell Rich B-Cell Lymphoma (TCRBCL) is relatively a new entity, lately classified as a morphologic variant of Diffuse Large B-cell lymphomas (DLBCL). It consists (1-3) % of all B-cell lymphomas. The rate is far less when describing cases of primary splenic involvement with TCRBCL. Pathologically, TCRBCL is described as a limited number of scattered, large, atypical b-cells embedded in a background of abundant t-cells and frequently histiocytes. The similarity of this malignancy with other types makes it difficult to distinguish between them. Thus, it needs expertise in both clinical and pathological fields to make the right diagnosis.Here, we present a case of an adult male patient whose first presentation and previous medical history of renal colic misguided the initial diagnosis and suggested another colic episode as the underlying ailment. However, further physical, radiological and histopathological investigations uncovered the presence of primary TCRBCL within spleen with no involvement of other sites. Moreover, unusual pathologic finding of CD3 positivity was proved by immunohistochemistry.
Adult-Type Rhabdomyoma of the Omohyoid Muscle
Authors: Brian H Cameron, Kyle Hannabass, Anuradha Kanungo, Dinesh K Chhetri
Journal: Case Rep Otolaryngol (2019)
MeSH terms: Case Reports

Rhabdomyomas are benign tumors composed of mesenchymal tissue and having a histologic appearance similar to skeletal muscle. Extracardiac rhabdomyomas are rare, and the majority of the adult subtype occur in the head and neck (H&N) region. Diagnosis can be challenging due to fine-needle aspiration (FNA) and core needle biopsy being suspicious for sampling error from surrounding muscle or concerning for rhabdomyosarcoma. We present a case of a slowly enlarging left neck mass in the strap musculature of a 45-year-old Hispanic male. Multiple FNA and core biopsies failed to establish a diagnosis, and excisional biopsy was pursued revealing a hypertrophied left inferior belly of the omohyoid muscle. Histological analysis was diagnostic of an adult-type extracardiac rhabdomyoma, with complete surgical excision being the gold standard treatment for these tumors. The patient had an uneventful recovery. Skeletal muscle tumors of the H&N are uncommon, and benign extracardiac rhabdomyoma must be considered in the differential diagnosis to prevent unnecessarily aggressive intervention and appropriate patient counseling before and after surgery.
Minimal Self and Timing Disorders in Schizophrenia: A Case Report
Authors: Brice Martin, Nicolas Franck, Michel Cermolacce, Jennifer T Coull, Anne Giersch
Journal: Front Hum Neurosci (2018)
Keywords: hazard function, implicit, minimal self, schizophrenia, self disorders, simultaneity judgment, timing and time perception
MeSH terms: Case Reports

For years, phenomenological psychiatry has proposed that distortions of the temporal structure of consciousness contribute to the abnormal experiences described before schizophrenia emerges, and may relate to basic disturbances in consciousness of the self. However, considering that temporality refers mainly to an implicit aspect of our relationship with the world, disturbances in the temporal structure of consciousness remain difficult to access. Nonetheless, previous studies have shown a correlation between self disorders and the automatic ability to expect an event in time, suggesting timing is a key issue for the psychopathology of schizophrenia. Timing disorders may represent a target for cognitive remediation, but this requires that disorders can be demonstrated at an individual level. Since cognitive impairments in patients with schizophrenia are discrete, and there is no standardized timing exploration, we focused on timing impairments suggested to be related to self disorders. We present the case report of AF, a 22 year old man suffering from schizophrenia, with no antipsychotic intake. Although AF shows few positive and negative symptoms and has a normal neurocognitive assessment, he shows a high level of disturbance of Minimal Self Disorders (SDs) (assessed with the EASE scale). Moreover, AF has a rare ability to describe his self and time difficulties. An objective assessment of timing ability (variable foreperiod task) confirmed that AF had temporal impairments similar to those previously described in patients, i.e., a preserved ability to distinguish time intervals, but a difficulty to benefit from the passage of time to expect a visual stimulus. He presents additional difficulties in benefitting from temporal cues and adapting to changes in time delays. The impairments were ample enough to yield significant effects with analyses at the individual level. Although causal relationships between subjective and objective impairments cannot be established, the results show that exploring timing deficits at the individual level is possible in patients with schizophrenia. Besides, the results are consistent with hypotheses relating minimal self disorders (SDs) to timing difficulties. They suggest that both subjective and objective timing investigations should be developed further so that their use at an individual level can be generalized in clinical practice.
An Atypical HNF4A Mutation Which Does Not Conform to the Classic Presentation of HNF4A-MODY
Authors: Andrew J Spiro, Katherine N Vu, Alicia Lynn Warnock
Journal: Case Rep Endocrinol (2018)
MeSH terms: Case Reports

Objective:
To present the case of an atypical Hepatocyte Nuclear Factor 4 Alpha (HNF4A) mutation that is not consistent with the classically published presentation of HNF4A-Mature Onset Diabetes of the Young (MODY).
Methods:
Clinical presentation and literature review.
Results:
A 43-year-old nonobese man was referred to the endocrinology clinic for evaluation of elevated fasting blood glucose (FBG) measurements. Laboratory review revealed prediabetes and hypertriglyceridemia for the previous decade. Testing of autoantibodies for type 1 diabetes was negative. Genetic testing showed an autosomal dominant, heterozygous missense mutation (c.991C>T; p.Arg331Cys) in the HNF4A gene, which is correlated with HNF4A-MODY. Phenotypically, patients with an HNF4A-MODY tend to have early-onset diabetes, microvascular complications, low triglyceride levels, increased birth weight, fetal macrosomia, and less commonly neonatal hyperinsulinemic hypoglycemia. The patient did not demonstrate any of these features but instead presented with late-onset diabetes, an elevated triglyceride level, and a normal birth weight.
Conclusion:
Our patient likely represents an atypical variant of HNF4A-MODY with a milder clinical presentation. Patients with atypical, less-severe presentations of HNF4A-MODY may be largely undiagnosed or misdiagnosed, but identification is important due to implications for treatment, pregnancy, and screening of family members.
Subthreshold Vibrotactile Noise Stimulation Immediately Improves Manual Dexterity in a Child With Developmental Coordination Disorder: A Single-Case Study
Authors: Satoshi Nobusako, Michihiro Osumi, Atsushi Matsuo, Emi Furukawa, Takaki Maeda, Sotaro Shimada, Akio Nakai, Shu Morioka
Journal: Front Neurol (2019)
Keywords: dcd, delayed visual feedback detection task, manual dexterity, sensory-dependence, stochastic resonance (sr), temporal order judgment (toj) task, vibrotactile noise stimulation, visuo-motor temporal integration
MeSH terms: Case Reports

Developmental coordination disorder (DCD) is the most common childhood movement disorder. It is characterized by clumsiness of fine and gross motor skills in developing children. Children with DCD have low ability to effectively use tactile information for movements, instead relying on visual information. In addition, children with DCD have deficits in visuo-motor temporal integration, which is important in motor control. These traits subsequently lead to clumsiness of movements. Conversely, however, imperceptible vibrotactile noise stimulation (at 60%-intensity of the sensory threshold) to the wrist provides stochastic resonance (SR) phenomenon to the body, improving the sensory and motor systems. However, the effects of SR have not yet been validated in children with DCD. Thus, we conducted a single case study of a 10-year-old boy with a diagnosis of DCD to investigate the effect of SR on visual dependence, visuo-motor temporal integration, and manual dexterity. SR was provided by vibrotactile noise stimulation (at an intensity of 60% of the sensory threshold) to the wrist. Changes in manual dexterity (during the SR on- and off-conditions) were measured using the manual dexterity test of the Movement Assessment Battery for Children-2nd edition. The point of subjective equality measured by visual or tactile temporal order judgment task served as a quantitative indicator reflecting specific sensory dependence. The delay detection threshold and steepness of delay detection probability curve, which were measured using the delayed visual feedback detection task, were used as quantitative indicators of visuo-motor temporal integration. The results demonstrated alleviated visual dependence and improved visuo-motor temporal integration during the SR on-conditions rather than the SR off-conditions. Most importantly, manual dexterity during the SR on-conditions was significantly improved compared to that during the SR off-conditions. Thus, the present results highlighted that SR could contribute to improving poor movement in children with DCD. However, since this was a single case study, a future interventional study with a large sample size is needed to determine the effectiveness of SR for children with DCD.