OpenMed/multicare-articles huggingface dataset:
Linking Early Life Hypothalamic-Pituitary-Adrenal Axis Functioning, Brain Asymmetries, and Personality Traits in Dyslexia: An Informative Case Study
Authors: Victoria Zakopoulou, Angeliki-Maria Vlaikou, Marousa Darsinou, Zoe Papadopoulou, Daniela Theodoridou, Kyriaki Papageorgiou, George A Alexiou, Haralambos Bougias, Vassiliki Siafaka, Pierluigi Zoccolotti, George P Chroussos, Maria Syrrou, Theologos M Michaelidis
Journal: Front Hum Neurosci (2019)
Keywords: bdnf, mr, brain asymmetries, dyslexia, hypothalamic–pituitary–adrenal (hpa) axis, neuroplasticity genes, stress

Developmental dyslexia (DD) is a multi-system disorder, combining influences of susceptibility genes and environmental factors. The causative interaction between specific genetic factors, brain regions, and personality/mental disorders, as well as specific learning disabilities, has been thoroughly investigated with regard to the approach of developing a multifaceted diagnostic procedure with an intervention strategy potential. In an attempt to add new translational evidence to the interconnection of the above factors in the occurrence of DD, we performed a combinatorial analysis of brain asymmetries, personality traits, cognitive and learning skills, and expression profiles of selected genes in an adult, early diagnosed with DD, and in his son of typical development. We focused on the expression of genes, based on the assumption that the regulation of transcription may be affected by genetic and epigenetic factors. The results highlighted a potential chain link between neuroplasticity-related as well as stress-related genes, such as BDNF, Sox4, mineralocorticoid receptor (MR), and GILZ, leftward asymmetries in the amygdala and selective cerebellum lobules, and tendencies for personality disorders and dyslexia. This correlation may reflect the presence of a specific neuro-epigenetic component of DD, ensuing from the continuous, multifaceted difficulties in the acquisition of cognitive and learning skills, which in turn may act as a fostering mechanism for the onset of long-term disorders. This is in line with recent findings demonstrating a dysfunction in processes supported by rapid neural adaptation in children and adults with dyslexia. Accordingly, the co-evaluation of all the above parameters may indicate a stress-related dyslexia endophenotype that should be carefully considered for a more integrated diagnosis and effective intervention.
Clinical Characteristics and Treatment Strategy of Retroperitoneal Schwannoma Adjacent to Important Abdominal Vessels: Three Case Reports and Literature Review
Authors: Qi Wu, Bingqiang Liu, Jun Lu, Hong Chang
Journal: Front Surg (2021)
Keywords: clinical characteristics, retroperitoneal tumor, schwannoma, treatment, vascular

Purpose: The purpose of this study was to review the clinical characteristics and treatment strategies of patients with retroperitoneal schwannomas adjacent to important abdominal vessels. Case Presentation: A total of three patients with retroperitoneal schwannoma immediately adjacent to important blood vessels in the abdominal cavity underwent successful surgical resection. They all had symptoms of abdominal pain and discomfort, two cases underwent three-dimensional reconstruction. There were no serious complications such as peripheral blood vessels and organ damage in all three cases. One case had chyle leakage after surgery, conservative treatment was successfully discharged. Conclusions: Retroperitoneal schwannomas immediately adjacent to important abdominal vessels have unique clinical characteristics. Preoperative three-dimensional reconstruction can fully show the local vascular relationship of the tumor, which is conducive to surgical planning and risk assessment. Benign tumors with large size and adjacent complex vessels can still be completely resected by surgery. Laparotomy resection is safe and feasible.
Child Death in a Resource-Limited Setting: A Simulation Case for Pediatric Residents to Prepare for Global Health Electives
Authors: Duncan K Hau, Joy D Howell, Adetunbi Ayeni, Michael J Alfonzo, Kevin Ching
Journal: MedEdPORTAL (2023)
Keywords: case-based learning, cultural awareness, global health, hospital medicine, pediatrics, simulation
MeSH terms: Global Health, Interdisciplinary Studies, Child, Child, Preschool, Computer Simulation, Humans, Physical Examination, Resource-Limited Settings

Introduction:
Pediatric residents are increasingly pursuing global health electives. Differences in cultural norms and management around pediatric deaths in resource-limited settings can be emotionally overwhelming for residents. Educational resources are needed to better equip them for handling these stressful situations. We developed a predeparture simulation child death case to prepare pediatric residents for their global health elective.
Methods:
The simulation module included a clinical case followed by a multidisciplinary structured debriefing. The case featured a 5-year-old, malnourished child in hypovolemic shock who clinically deteriorates and dies. After obtaining a history and performing a physical examination, residents were expected to diagnose severe malnutrition, treat hypovolemic shock, and decide how far to extend resuscitation with the limited resources. Upon returning from abroad, residents were invited to complete a survey on the utility of the simulation case module in preparing for their elective.
Results:
Twenty-nine residents participated in the simulation case module, and 18 completed the survey. Seventeen agreed or strongly agreed that the simulation module was a useful tool for preparation (Mdn = 4.5 on a 5-point Likert scale). Residents reflected that the simulation module helped manage expectations and provided them with an understanding of the cross-cultural differences in managing pediatric deaths in a resource-limited setting.
Discussion:
Pediatric residents trained in resource-rich countries do not encounter death often. Postgraduate training programs could consider simulations like this one to prepare such residents for cross-cultural differences in managing pediatric deaths and build resiliency to operate in resource-limited settings.
Intrahepatic sarcomatoid cholangiocarcinoma
Authors: Shalini Malhotra, Joanna Wood, Talal Mansy, Rajeev Singh, Abed Zaitoun, Srinivasan Madhusudan
Journal: J Oncol (2010)
MeSH terms: Case Reports

Intrahepatic sarcomatoid cholangiocarcinoma is a rare but an aggressive variant of cholangiocarcinoma with a very poor prognosis. We report the first caucasian patient who presented with a rapidly enlarging liver mass requiring hepatic resection. Detailed histopathological analyses including immunohistochemistry and electron microscopy confirmed sarcomatoid cholangiocarcinoma. The patient had early onset disease recurrence within 5 weeks of surgery. Here we demonstrate that combination chemotherapy with gemcitabine and cisplatin is a potential treatment option in patients with advanced sarcomatous cholangiocarcinoma. The patient achieved sustained partial remission with combination chemotherapy and remains alive and well more than 29 months since initial surgery.
Fungicides and the Grapevine Wood Mycobiome: A Case Study on Tracheomycotic Ascomycete Phaeomoniella chlamydospora Reveals Potential for Two Novel Control Strategies
Authors: Giovanni Del Frari, Alex Gobbi, Marie Rønne Aggerbeck, Helena Oliveira, Lars Hestbjerg Hansen, Ricardo Boavida Ferreira
Journal: Front Plant Sci (2019)
Keywords: phaeomoniella chlamydospora, fungicides, grapevine trunk diseases, microbial ecology, mycobiome

Phaeomoniella chlamydospora is a tracheomycotic fungus that colonizes the xylem of grapevines (Vitis vinifera L.), causing wood discoloration, brown wood streaking, gummosis, and wood necrosis, which negatively affect the overall health, productivity, and life span of vines. Current control strategies to prevent or cope with P. chlamydospora infections are frequently ineffective. Moreover, it is unclear how fungicides commonly applied in vineyards against downy and powdery mildew agents affect the wood mycobiome, including wood pathogens such as P. chlamydospora. In this study, we used next-generation sequencing to assess the effects of foliar spray of grapevines with inorganic (copper oxychloride and sulfur), synthetic (penconazole and fosetyl-aluminum), and natural (Blad) fungicides currently used against the downy and powdery mildews. The subjects of our investigation were (i) the resident wood mycobiome, (ii) the early colonization by a consortium of fungal wood endophytes (ACEA1), (iii) the wood colonization success of P. chlamydospora, and (iv) the in planta interaction between P. chlamydospora and ACEA1, under greenhouse conditions, in rooted grapevine cuttings of cv. Cabernet Sauvignon. The data obtained suggest that the resident mycobiome is affected by different fungicide treatments. In addition, the early colonization success of the endophytes composing ACEA1 varied in response to fungicides, with relative abundances of some taxa being overrepresented or underrepresented when compared with the control. The wood colonization by P. chlamydospora comported significant changes in the mycobiome composition, and in addition, it was greatly affected by the foliar spray with Blad, which decreased the relative abundance of this pathogen 12-fold (4.9%) when compared with the control (60.7%) and other treatments. The presence of the pathogen also decreased considerably when co-inoculated into the plant with ACEA1, reaching relative abundances between 13.9% and 2.0%, depending on the fungicide treatment applied. This study shows that fungicides sprayed to prevent infections of powdery and downy mildews have an effect on non-target fungi that colonize the endosphere of grapevines. We suggest two potential control strategies to fight P. chlamydospora, namely, the foliar spray with Blad and the use of ACEA1. Further studies to confirm these results are required.
Coronary Artery Hematoma Treated with Fenestration Using a Novel NSE Alpha® Scoring Balloon
Authors: Naohiro Funayama, Takao Konishi, Tadashi Yamamoto, Daisuke Hotta
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

The optimal management of coronary intramural hematoma has not been defined. We described a case in which coronary occlusion developed due to an intramural hematoma after percutaneous coronary intervention for mid left circumflex artery (LCX). Intravascular ultrasound (IVUS) demonstrated the progression of the intramural hematoma and a totally compressed true lumen. Our approach was based on fenestration with a scoring balloon (NSE Alpha, Goodman, Japan), which allowed the deployment of an additional stent to be avoided. In conclusion, this management can be effectively and safely performed.
Longitudinally extensive transverse myelitis with intramedullary metastasis of small-cell lung carcinoma: an autopsy case report
Authors: Kenya Nishioka, Ryota Tanaka, Satoshi Tsutsumi, Hideki Shimura, Yutaka Oji, Harumi Saeki, Yukimasa Yasumoto, Masanori Ito, Nobutaka Hattori, Takao Urabe
Journal: Case Rep Neurol Med (2013)

Background. Longitudinally extensive transverse myelitis (LETM) is characterized by spinal cord inflammation extending vertically through three or more vertebral segments. The widespread use of MRI revealed LETM more frequency than ever. We report the case of a patient with pathologically confirmed small-cell lung carcinoma metastasis into the spinal cord presenting as LETM. Case Presentation. A 74-year-old man developed rapidly progressive sensorimotor disturbance and vesicorectal dysfunction. T2-weighted magnetic resonance imaging of the spine revealed LETM at the level of from T3 to conus medullaris; gadolinium enhancement showed concurrent tumor in the thoracic spinal cord from T10 to T11. Systemic survey identified a nodular mass in the lung that was verified as small-cell carcinoma. Following initial failed treatment by high-dose steroid, the patient underwent an emergent microsurgical tumor resection. Histological examination was identical with the lung carcinoma. The patient died of tumor progression at the 47th day after admission. At autopsy, only changes of edema were found in the gray matter of the cord, while tumor cells were not noted in it. Conclusion. Metastasis may rarely present symptoms of LETM. Prompt identification of underlying etiology by contrast examination and systemic survey is crucial for the patient assumed as LETM.
Clinicopathological characteristics and diagnosis of hepatic sinusoidal obstruction syndrome caused by Tusanqi - Case report and literature review
Authors: Youwen Tan, Sainan Zheng
Journal: Open Med (Wars) (2023)
Keywords: tusanqi, drug-induced liver injury, hepatic sinusoidal obstruction syndrome, pyrrolizidine alkaloid
MeSH terms: Case Reports

Tusanqi-induced hepatic sinusoidal obstruction syndrome (HSOS) is caused by exposure to pyrrolizidine alkaloids (PAs) and manifests as abdominal distension, liver pain, ascites, jaundice, and hepatomegaly. Pathologically, hepatic congestion and sinusoidal occlusion are observed in HSOS. We summarized the clinical characteristics of 124 patients with HSOS caused by Tusanqi in China between 1980 and 2019, along with those of 831 patients from seven English case series. The main clinical manifestations of PA-HSOS included abdominal pain, ascites, and jaundice. Common imaging features included characteristic heterogeneous density, slender hepatic veins, and other nonspecific changes. The acute stage is primarily manifested as hepatic sinus congestion and necrosis. Meanwhile, the persistence of hepatic sinus congestion and the onset of perisinusoidal fibrosis were observed during the repair stage. Finally, the persistence of hepatic sinusoidal fibrosis and resultant central hepatic vein occlusion were observed in the chronic stage. The new Nanjing standard for PA-HSOS incorporates the history of PA consumption and imaging features and eliminates weight gain and the serum total bilirubin value. Preliminary clinical validation of the Nanjing standard for PA-HSOS diagnosis revealed a sensitivity and specificity of 95.35 and 100%, respectively.
Interaction of the Left-Right Somatosensory Pathways in Patients With Thalamic Hemorrhage: A Case Report
Authors: Daisuke Ishii, Kiyoshige Ishibashi, Kotaro Takeda, Hiroshi Yuine, Satoshi Yamamoto, Yuki Kaku, Arito Yozu, Yutaka Kohno
Journal: Front Hum Neurosci (2021)
Keywords: neural plasticity, paired somatosensory evoked potentials, somatosensory evoked potentials, stroke, thalamic hemorrhage
MeSH terms: Case Reports

Neural plasticity compensates for the loss of motor function after stroke. However, whether neural plasticity occurs in the somatosensory pathways after stroke is unknown. We investigated the left-right somatosensory interaction in two hemorrhagic patients using a paired somatosensory evoked potentials (p-SEPs) recorded at CP3 and CP4, which was defined as an amplitude difference between the SEPs of paired median nerve stimulations to both sides and that of single stimulation to the affected side. Patient 1 (61-year-old, left thalamic hemorrhage) has a moderate motor impairment, severe sensory deficit, and complained of pain in the affected right upper limb. Patient 2 (72-year-old, right thalamic hemorrhage) had slight motor and sensory impairments with no complaints of pain. Single SEPs (s-SEPs) were obtained by stimulation of the right and left median nerves, respectively. For paired stimulations, 1 ms after the first stimulation to the non-affected side, followed by a second stimulation to the affected side. In patient 1, a s-SEP with stimulation to the non-affected side and a p-SEP were observed in CP4. However, a s-SEP was not observed in either hemisphere with stimulation to the affected side. On the other hand, in patient 2, a s-SEP in CP3 with stimulation to the non-affected side and in CP4 with stimulation to the affected side were observed; however, a p-SEP was not observed. In addition, to investigate the mechanism by which ipsilateral median nerve stimulation enhances contralateral p-SEP in patient 1, we compared the SEP averaged over the first 250 epochs with the SEP averaged over the second 250 epochs (total number of epochs recorded: 500). The results showed that in the patient 1, when the bilateral median nerve was stimulated continuously, the habituation did not occur and the response was larger than that of the s-SEP with unilateral median nerve stimulation. In the current case report, the damage to the thalamus may cause neuroplasticity in terms of the left-right interaction (e.g., left and right S1). The somatosensory input from the affected side may interfere with the habituation of the contralateral somatosensory system and conversely increase the response.
Familial lecithin-cholesterol acyltransferase (LCAT) deficiency; a differential of proteinuria
Authors: Mohammed Mahdi Althaf, Hadeel Almana, Ahmed Abdelfadiel, Sadiq Mohammed Amer, Turki Omar Al-Hussain
Journal: J Nephropathol (2015)
Keywords: familial lecithin-cholesterol acyltransferase (lcat) deficiency, hdl-cholesterol, proteinuria
MeSH terms: Case Reports

Background:
Lecithin cholesterol acyltransferase (LCAT) is an important enzyme in cholesterol metabolism that is involved in the esterification of cholesterol. A lack of this enzyme results in deranged metabolic pathways that are not completely understood, resulting in abnormal deposition of lipids in several organs. Clinically, it manifests with proteinuria, dyslipidemia and corneal opacity with progressive chronic kidney disease resulting in end-stage renal disease.
Case presentation:
We herein present a case of a 30-year-old male with proteinuria that was not responsive to empiric management with angiotensin-converting enzyme (ACE) inhibitors and oral steroids. Physical examination revealed corneal ring opacity involving both eyes. Urinalysis revealed an active sediment. The 24-h proteinuria was 3.55 grams. Family history was positive for renal disease and dyslipidemia. Viral serology for human immunodeficiency virus (HIV), hepatitis C virus (HCV) and hepatitis B virus (HBV) were negative. Serum complements were normal and anti-nuclear antibody (ANA) was negative. We elected for a renal biopsy that revealed characteristic features of LCAT deficiency. The diagnosis of LCAT deficiency was established with a combination of clinical and pathological findings.
Conclusions:
Currently renal prognosis is poor but conservative management with ACE inhibitors and lipid lowering therapy in addition to steroids has been shown to retard progression to end-stage renal disease. However newer therapies such as gene replacement and recombinant LCAT replacement are being studied with promising preliminary results.
Acute Bacterial Suppurative Thyroiditis following Fine Needle Aspiration: A Case Report and Review of the Literature
Authors: Zaw Win Htet, E Shyong Tai, Samantha Peiling Yang
Journal: Case Rep Endocrinol (2020)
MeSH terms: Case Reports

Background:
Fine needle aspiration (FNA) of thyroid nodules is a simple, reliable, and inexpensive procedure performed on suspicious thyroid nodules found in thyroid ultrasound (US). Acute bacterial suppurative thyroiditis is an uncommon complication of FNA which, however, can be life threatening. Case Presentation. A 49-year-old lady presented with fever and neck pain 1 month after FNA with biochemical evidence of thyrotoxicosis. Repeat US of the thyroid showed interval enlargement of the thyroid nodule, and the culture of the cystic fluid of repeat FNA grew Propionibacterium acnes. She responded well to bedside aspiration and 2 weeks of antibiotic therapy without requiring surgical intervention. Discussion. Acute bacterial suppurative thyroiditis following FNA has been increasingly reported in immunocompetent hosts. There are 2 peculiar features in our case: a smoldering course caused by an indolent organism and a significant time lag between initial FNA and clinical presentation. On literature review, it was found that the onset of acute bacterial suppurative thyroiditis after FNA can range from a few days to up to 3 months. Clinicians should be aware of this complication even if FNA has been performed a few months ago. Thyroid US and US-guided FNA are useful initial investigations. Conventional management of acute bacterial suppurative thyroiditis has been surgery combined with antimicrobial therapy. However, recently, a more conservative approach has been reported to be effective in the treatment of acute bacterial suppurative thyroiditis as well.
Conclusion:
Proper infection control practices are necessary in performing the FNA. Initial management (conservative versus surgical) of acute bacterial thyroiditis should be based on the patient's clinical status and the extent of infective focus.
Very-Long-Chain Acyl-Co-Enzyme A Dehydrogenase Deficiency Presenting as Rhabdomyolysis: First Case Report from Sri Lanka
Authors: Maheshi Wijayabandara, Champika Gamakaranage, Dineshani Hettiarachchi
Journal: Case Rep Genet (2020)
MeSH terms: Case Reports

Background:
Rhabdomyolysis can be either inherited or acquired such as in metabolic myopathies. Very-long-chain acyl-CoA dehydrogenase deficiency is a rare fatty acid oxidation disorder which presents with different phenotypes, and the mild adult form can present as intermittent rhabdomyolysis. Here, we present the first adult case of very-long-chain acyl-CoA dehydrogenase deficiency presenting as rhabdomyolysis in a Sri Lankan patient. Case Presentation. A 36-year-old Sri Lankan man who was born to consanguineous parents presented with severe generalized muscle pain, stiffness, and dark-coloured urine for three days following prolonged low-intensity activity. Since fourteen years of age, he has had multiple similar episodes, where one episode was complicated with acute kidney injury. His eldest brother also suffered from the similar episode. Examination revealed only generalized muscle tenderness without any weakness. His creatine phosphokinase level was above 50,000 IU/L, and he had myoglobinuria. Molecular genetic tests confirmed the diagnosis of very-long-chain acyl-CoA dehydrogenase deficiency. Following a successful recovery devoid of complications, he remained asymptomatic with lifestyle adjustments.
Conclusion:
Very-long-chain acyl-CoA dehydrogenase deficiency is a rare inherited cause of metabolic myopathy that gives rise to intermittent rhabdomyolysis in adults. Prompt diagnosis is essential to prevent complications and prevent its recurrence.
Endoscopic Management of Drain Inclusion in the Gastric Pouch after Gastrojejunal Leakage after Laparoscopic Roux-en-Y Gastric Bypass for the Treatment of Morbid Obesity (LRYGBP)
Authors: Ramon Vilallonga, José Manuel Fort, Oscar Gonzalez, Juan Antonio Baena, Albert Lecube, Josè Salord, Manel Armengol Carrasco, Josep Ramon Armengol-Miró
Journal: Diagn Ther Endosc (2010)
MeSH terms: Case Reports

Background. Drain inclusion inside the gastric pouch is rare and can represent an important source of morbidity and mortality associated with laparocopic Roux-en-Y gastric bypass (LRYGBP). These leaks can become chronic and challenging. Surgical options are often unsuccessful. We present the endoscopic management of four patients with drain inclusion. Patients. All four obese morbidly patients underwent LRYGBP and presented a gastro-jejunal fistula after acute anastomotic leakage. During follow-up endoscopy the drain was found inside the gastric pouch. It was moved into the abdominal cavity. Fistula debit reduced significantly and closed. Results. Gastric leak closure in less than 24 hours was achieved in all, with complete resolution of symptoms. These patients benefited exclusively from endoscopic treatment. Conclusions. Endoscopy is useful and technically feasible in chronic fistulas. This procedure is a less invasive alternative to traditional surgical revision. Other therapeutic strategies can be used such as clips and fibrin glue. Drains should not be placed in contact with the anastomosis or stapled lines. Drain inclusion must be suspected when fistula debit suddenly arises. If so, endoscopy is indicated for diagnostic accuracy. Under endoscopy vision, the drain is gently removed from the gastric reservoir leading to sudden and complete resolution of the fistula.