OpenMed/multicare-articles huggingface dataset:
Effect of Transcranial Direct Current Stimulation Combined With Xbox-Kinect Game Experience on Upper Limb Movement in Down Syndrome: A Case Report
Authors: Jamile Benite Palma Lopes, Isabela Marques Miziara, Manuela Galli, Veronica Cimolin, Claudia Santos Oliveira
Journal: Front Bioeng Biotechnol (2020)
Keywords: down syndrome, electrical stimulation, motor cortex, physical therapy, reaching, upper limb
MeSH terms: Case Reports

Transcranial direct current stimulation (tDCS) is a non-invasive brain stimulation technique used to enhance local synaptic efficacy and modulate the electrical activity of the cortex in neurological disorders. Researchers have sought to combine this type of stimulation with well-established therapeutic modalities, such as motor training involving Xbox Kinect games, which has demonstrated promising results. Thus, this study aimed to determine whether tDCS can enhance upper limb motor training in an eight-year-old child with Down Syndrome (DS) (cognitive age: five years, based on the Wechsler Intelligence Scale for Children). The evaluations consisted of three-dimensional analysis of upper limb kinematics during a reaching task performed before, after10 session, and one month after the intervention. The intervention protocol involved 1 20-min sessions of tDCS over the primary motor cortex at an intensity of 1 mA during Xbox Kinect game training involving an upper limb motor task. The analysis of the kinematic data revealed that in the pre-intervention evaluation, the dominant limb executed the task slowly and over a long path. These aspects improved at the post-intervention and follow-up evaluations, as demonstrated by the shorter total movement duration (3.05 vs. 1.58 vs. 1.52 s, respectively). Similar changes occurred with the non-dominant upper limb; a significant increase in movement velocity at the post-intervention and follow-up evaluations was observed (0.53 vs. 0.54 vs. 0.85 m/s, respectively). The present case report offers preliminary data from a protocol study, and the results confirm the notion that anodal tDCS combined with upper limb motor training leads to improvements in different kinematic variables.
Management of agitation following aneurysmal subarachnoid hemorrhage: is there a role for Beta-blockers?
Authors: Fayaz Ibrahim, Ramaswamy Viswanathan
Journal: Case Rep Psychiatry (2012)
MeSH terms: Case Reports

Introduction. Stroke is a leading cause of mortality and morbidity in the United States. About 20% of the stroke is hemorrhagic and about 50% of these is due to aneurysmal subarachnoid hemorrhage. A troublesome neuropsychiatric complication of subarachnoid hemorrhage is agitation/aggression. Case Presentation. A 45-year-old man with no prior psychiatric history, sustained subarachnoid hemorrhage. After initial stabilization for 2 days, he underwent craniotomy and clipping of anterior cerebral communicating artery aneurysm. Treatment was continued with labetalol, nimodipine, and levetiracetam. Beginning postoperative day 4, patient developed episodes of confusion and agitation/aggression. Switching of Levetiracetam to valproate did not show any improvement. Psychiatry team tried to manage him with intense nursing intervention and different medications like olanzapine, valproate, lorazepam, and haloperidol. However, patient continued to be agitated and aggressive. Switching from labetalol to metoprolol resulted in dramatic improvement within 3 days. Discussion. Antipsychotics and benzodiazepines are often not sufficiently effective in the control of agitation/aggression in patients with traumatic brain injury and similar conditions. Our case report and the literature review including a cochrane review suggests that beta-blockers may be helpful in this situation.
Human parechovirus 3 and neonatal infections
Authors: Guy Boivin, Yacine Abed, François D Boucher
Journal: Emerg Infect Dis (2005)
MeSH terms: Parechovirus / isolation & purification, Picornaviridae Infections / virology, Case Reports, Base Sequence, Canada, DNA, Viral / analysis, Female, Humans, Infant, Newborn, Male, Molecular Sequence Data, Parechovirus / classification, Parechovirus / genetics, Picornaviridae Infections / diagnosis, Sepsis / diagnosis, Sepsis / virology, Sequence Analysis, DNA, DNA, Viral

A third serotype of human parechovirus (HPeV) has been recently isolated from stool specimens of a young Japanese child with transient paralysis. We report 3 additional cases of neonatal sepsis caused by HPeV-3 in the fall of 2001 in Canadian infants 7-27 days old. All children were hospitalized with high fever, erythematous rash, and tachypnea for a median of 5 days. The viruses isolated from nasopharyngeal aspirates grew slowly on tertiary monkey kidney cells and were successfully passaged on Vero cells. The predicted amino acid identity of the VP0-VP3-VP1 region of the three viruses was 74.6%-74.8%, 73.4%-73.6%, and 97.0%-97.1% when compared to HPeV-1, -2, and -3 prototype strains, respectively. Although different, our isolates were closely related; amino acid identity was 99.6%-100% for the last 3 proteins.
Small bowel angiomyxoma causing intussusception: Case report and review of the literature
Authors: Hussam M Mousa, Suhail Al-Salam, Fikri M Abu-Zidan
Journal: Int J Surg Case Rep (2019)
Keywords: benign, bowel tumors, intussusception, myxoma

Introduction:
Angiomyxoma-related intussusception in adults is extremely rare. Herein, we report an adult man who presented with mechanical small bowel obstruction caused by ileo-colic intussusception triggered by an angiomyxoma of the terminal ileum and review the literature on this topic.
Presentation of case:
A-40-year-old man was referred to Al-Ain Hospital with a clinical picture of small bowel obstruction. He has no previous abdominal surgery. Clinical examination showed a distended soft abdomen, and hyperactive bowel sounds. Abdominal ultrasound and computed tomography scan showed a doughnut sign confirming the presence of ileo-colic intussusception as the cause for small bowel obstruction. At laparotomy, a mass was found in the right iliac fossa. Right hemi colectomy was performed with ileo-colic anastomosis. An ileal pedunculated mass triggered the intussusception. Histopathology of the mass was diagnostic of an angiomyxoma of small bowel. Echocardiogram showed no atrial synchronous myxoma. The patient was discharged home with good general condition. At three years follow up, the patient remained asymptomatic without evidence of recurrence.
Conclusions:
Myxoma of small bowel should be included in the differential diagnosis of small bowel obstruction in the young age group particularly if the diagnosis of intussusception was made preoperatively.
A20 Haploinsufficiency in a Chinese Patient With Intestinal Behcet's Disease-Like Symptoms: A Case Report
Authors: Yu Chen, Huanjun Huang, Yao He, Minhu Chen, Ursula Seidler, De'an Tian, Fang Xiao
Journal: Front Immunol (2020)
Keywords: tnfaip3, autoimmune disorder, autosomal-dominant-inherited disease, expressivity, gene mutation, haploinsufficiency of a20, intestinal behçet's disease, whole exome sequencing
MeSH terms: Asian People / genetics, Behcet Syndrome / genetics, Haploinsufficiency / genetics, Tumor Necrosis Factor alpha-Induced Protein 3 / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, Female, Genetic Predisposition to Disease / genetics, Humans, Male, Pedigree, TNFAIP3 protein, human, Tumor Necrosis Factor alpha-Induced Protein 3

Objective: Intestinal Behcet's disease (iBD) is an autoimmune disorder diagnosed by typical intestinal ulcers and systemic Behcet's disease (BD) manifestations. Haploinsufficiency of A20 (HA20) is a recently described autoinflammatory disease with a phenotype resembling BD, caused by heterozygous loss-of-function mutations in TNFAIP3 gene (encoding A20). Methods: We described a 29-year-old female with iBD-like symptoms including relapsing ulceration of intestinal anastomosis, recurrent oral ulcers and vasculitis in extremities. Due to the atypical intestinal ulcers with long segmental involvement and intestinal obstruction, whole exome sequencing (WES) was performed to screen for the underlying genetic defect and the identified gene was confirmed by Sanger sequencing. The expression levels of A20 was evaluated by Western blot. Sanger sequencing and Western blot were also performed in the patient's family members. Results: A heterozygous mutation of TNFAIP3 (c.305A>G, p. Asn 102 Ser) was identified in the patient. The identical TNFAIP3 mutation was also found in her father and brother who had suffered from recurrent oral ulcers since childhood. Functional experiments revealed that the expression of A20 was decreased in the peripheral blood mononuclear cells of the patient and her family members who carried the TNFAIP3 mutation. Conclusion: We described a Chinese patient with a novel heterozygous mutation in TNFAIP3 who developed iBD-like symptoms. We proposed that the TNFAIP3 heterozygous mutation (c.305A>G, p. Asn 102 Ser) with an insufficient expression of A20 may be associated with the iBD phenotype in patients.
Pathological changes of renal biopsy in Sjögren Syndrome
Authors: Nery Sablón-González, Noel Lorenzo Villalba, Yanet Parodis López, Juan Manuel Fernández, Silvia Marrero-Robayna, Melek Kechida, Rafael Camacho-Galan, Jose Carlos Rodríguez-Pérez
Journal: Pan Afr Med J (2018)
Keywords: sjögren syndrome, cryoglobulins, membranoproliferative type i glomerulonephritis secondary to cryoglobulins, tubulointerstitial nehritis
MeSH terms: Kidney / physiopathology, Renal Insufficiency / etiology, Sjogren's Syndrome / diagnosis, Case Reports, Biopsy / methods, Female, Glomerulonephritis, Membranoproliferative / diagnosis, Humans, Middle Aged, Nephritis, Interstitial / diagnosis, Sjogren's Syndrome / pathology

We are presenting the case of a 53-year-old woman with a history of Sjögren syndrome and a secondary antiphospholipid syndrome admitted at the Nephrology department for the evaluation of renal failure. The patient was initially diagnosed with tubulointerstitial nephritis and subsequently a membranoproliferative type I glomerulonephritis, secondary to cryoglobulins during the course of the disease. Repeated renal biopsies were required to confirm the diagnosis.
Severe Nonspecific Interstitial Pneumonia (NSIP) in an Adolescent
Authors: Giuliana Cerro Chiang, Christopher Lee, Alberto Marchevsky, Michael I Lewis
Journal: Case Rep Pulmonol (2022)
MeSH terms: Case Reports

Childhood interstitial lung disease (chILD) is remarkably rare with a reported prevalence from 0.13 per 100,000 children under 17 years to 16.2 per 100,000 children under 15 years of age (Kornum et al., 2008). Here, we present a case of a 15-year-old with subacute hypoxemic respiratory failure, admitted to the critical care unit. Her imaging on admission showed bilateral interstitial infiltrates; her laboratory workup, including autoimmune serologies, was unrevealing. A bronchoscopy revealed the diagnosis of nonspecific interstitial pneumonia. She had a partial recovery after a course of steroids.
Debate of Percutaneous Coronary Intervention versus Coronary Artery Bypass Grafting in a Multimorbidity Patient with Complex Coronary Lesions
Authors: Sotirios Mitsiadis, Nikolaos Miaris, Antonios Dimopoulos, Anastasios Theodosis-Georgilas, Spyridon Tsiamis, Nikolaos Patsourakos, Nikolaos Papakonstantinou, Evangelos Pisimisis
Journal: Case Rep Cardiol (2020)
MeSH terms: Case Reports

Background:
While complete revascularization in coronary artery disease is of high priority, the method of implementation in patients with complex coronary lesions and multiple comorbidities is not directed by published guidelines. Case Presentation. A 53-year-old female with a chronic total occlusion of the right coronary artery and a bifurcation lesion of the left anterior descending artery and the first diagonal branch, presented with non-ST elevation myocardial infarction. Her past medical history concerned thymectomy and prior chest radiation for thymoma, myasthenia gravis, peripheral artery disease, and cervical cancer treated with surgery and radiation. Although SYNTAX score II favored surgical revascularization, the interventional pathway was finally successfully followed. However, it was complicated with vessel perforation and tamponade managed with pericardiocentesis.
Conclusion:
Comorbidities are not all involved in common risk models and require individualization until more evidence comes to light.
Persistent CSF Rhinorrhoea, Pneumocephalus, and Recurrent Meningitis Following Misdiagnosis of Olfactory Neuroblastoma
Authors: Neil Barua, David A Hilton, William Mukonoweshuro, Hisham Khalil, Louis Pobereskin
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

A 41-year-old female patient was admitted with streptococcal meningitis on a background of 5-month history of CSF rhinorrhoea. Imaging revealed an extensive skull base lesion involving the sphenoid and ethmoid sinuses, the pituitary fossa with suprasellar extension and bony destruction. Histological examination of an endonasal transethmoidal biopsy suggested a diagnosis of olfactory neuroblastoma. A profuse CSF leak occurred and the patient developed coliform meningitis. A second endonasal endoscopic biopsy was undertaken which demonstrated the tumour to be a prolactinoma. Following endonasal repair of the CSF leak and lumbar drainage, she developed profound pneumocephalus. The patient underwent three further unsuccessful CSF leak repairs. Definitive control of the CSF leak was finally achieved through a transcranial approach with prolonged lumbar drainage. This case illustrates some of the potentially devastating complications which can occur as a consequence of complex skull base lesions. A multidisciplinary approach may be required to successfully manage such cases.
Regional Odontodysplasia with Generalised Enamel Defect
Authors: A M Al-Mullahi, K J Toumba
Journal: Case Rep Dent (2016)
MeSH terms: Case Reports

Regional odontodysplasia (ROD) is uncommon developmental anomaly, which tends to be localised and involves the ectodermal and mesodermal tooth components. A five-year-old female was referred to Department of Child Dental Health at the Leeds Dental Institute regarding malformed primary teeth. On examination 64, 74, and 72 had localised hypomineralized enamel defect. The crown of 55 was broken down with only the root remaining below the gingival level. 54 has a yellowish brown discolouration with rough irregular surface. The upper anterior teeth show mild enamel opacity. Radiographically, 55 and 54 had thin radioopaque contour, showing poor distinction between the enamel and dentine and the classic feature of a wide pulp chamber. 15, 16, and 17 were developmentally delayed and were displaying the characteristic "ghost appearance." Comprehensive dental care was done under local anaesthesia and it included extraction of the primary molars affected by ROD, stainless steel crown on 64, and caries prevention program. Fifteen months following the initial assessment the patient's oral condition remains stable and she is under regular follow-up at the department. Paediatric dentists should be aware of this anomaly as it involves both dentitions and usually requires multidisciplinary care.
Atypical uterine leiomyoma: a case report and review of the literature
Authors: Suzana Manxhuka-Kerliu, Irma Kerliu-Saliu, Vjollca Sahatciu-Meka, Lloreta Kerliu, Labinot Shahini
Journal: J Med Case Rep (2016)
MeSH terms: Leiomyomatosis / chemistry, Leiomyomatosis / pathology, Leiomyosarcoma / chemistry, Leiomyosarcoma / pathology, Uterine Neoplasms / chemistry, Uterine Neoplasms / pathology, Case Reports, Research Support, Non-U.S. Gov't, Review, Diagnosis, Differential, Female, Humans, Middle Aged, Mitotic Index

Background:
Atypical uterine leiomyomas show benign behavior. However, the distinction between leiomyomas and leiomyosarcomas may at times be problematic. We report a rare case of atypical uterine leiomyoma. We try to investigate potential immunohistochemical parameters that could be essential to distinguish cases of malignant smooth muscle tumors and those of uncertain or borderline histology.
Case presentation:
A 56-year-old white ethnic Albanian woman from Kosovo presented with uterine bleeding because of uterine multiple leiomyomas. A hysterectomy with unilateral adnexectomy was performed. Her hysterectomy specimen contained multiple leiomyomas in submucosal, intramural and subserosal locations. The leiomyomas were well demarcated, firm and white with a whorled cut surface and one had foci of hemorrhage. Histology of most of the leiomyomas showed a whorled (fascicular) pattern of smooth muscle bundles separated by well-vascularized connective tissue. Smooth muscle cells were elongated with eosinophilic or occasional fibrillar cytoplasm and distinct cell membranes. Some of them developed areas of degeneration including hyaline change, with less than five mitotic figures per ten high power fields in most mitotically active areas, and no significant atypia. One leiomyoma was characterized by moderately to severely pleomorphic atypical tumor cells with low mitotic counts and no coagulative tumor cell necrosis. Immunohistochemistry showed strong immunoreactivity for vimentin, smooth muscle actin and desmin, while cyclin-dependent kinase inhibitor 2A (p16), and B-cell lymphoma 2 (bcl-2) showed focal immunoreactivity, estrogen and progesterone were positive, Ki-67 expressed a low proliferation index, whereas p21 and tumor suppressor gene p53 were negative.
Conclusions:
The combination of evaluation of conventional morphologic criteria with cyclin-dependent kinase inhibitor 2A (p16), p21, progesterone, B-cell lymphoma 2, tumor suppressor gene p53 and Ki-67 expression may be of great value in the assessment of uterine smooth muscle tumors of uncertain or borderline histology.
Superdominant right coronary artery with absent left circumflex artery
Authors: Y Majid, M Warade, J Sinha, A Kalyanpur, T Gupta
Journal: Biomed Imaging Interv J (2011)
Keywords: absent left main coronary artery, atrioventricular groove, congenital defect, right posterolateral ventricular branch (rpda), single coronary artery, superdominant right coronary artery
MeSH terms: Case Reports

Noninvasive imaging of coronary artery disease is rapidly replacing angiography as the first line of investigation. Multislice CT is the non-invasive modality of choice for imaging coronary artery disease and provides high speed with good spatial resolution. CT coronary angiography in addition to detecting and characterising atherosclerotic coronary artery disease is also a good imaging tool for evaluating anomalies of coronary arteries. Superdominant right coronary artery with absent left circumflex artery is one such rare coronary artery anomaly which is well evaluated with multislice CT angiography. The authors report one such case of superdominant right coronary artery with absent left circumflex artery imaged with 64-slice MDCT.
Ocular melanoma metastasizing to intra-abdominal lymph nodes
Authors: David Aranovich, Karen Meir, Michal M Lotem, Liat Appelbaum, Hadar Merhav
Journal: Case Rep Surg (2013)

Background. Visceral metastatic spread of ocular melanoma most commonly occurs via hematogenous route to the liver. Lymphatic spread of ocular melanoma into abdominal lymph nodes has not been reported previously. Case Presentation. A 47-year-old man with a history of ocular melanoma presented with a soft tissue mass on CT scan. The mass encased the portal structures of the hepaticoduodenal ligament. Image-guided biopsy revealed it to be a metastatic melanoma to lymph nodes. The patient underwent surgery with the intent to prolong disease-free survival. On final pathological examination, two lymph nodes were found harboring metastatic melanoma. Conclusion. Extrahepatic lymphatic intra-abdominal spread of ocular melanoma is not impossible. Since this mode of spread is rare, the oncologic significance of surgical resection of isolated intra-abdominal nodal with metastatic ocular melanoma is difficult to determine at the present time.
Endometrial stromal nodule: report of a case
Authors: F Z Fdili Alaoui, H Chaara, H Bouguern, M A Melhouf, H Fatemi, A Belmlih, A Amarti
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Endometrial stromal nodule (ESN) is the least common of the endometrial stromal tumors. They are rare neoplasms which are diagnosed in most instances by light microscopy. Although such nodules are benign, hysterectomy has been considered the treatment of choice to determine the margins of the tumor required for diagnosis and to differentiate it from invasive stromal sarcoma Whose prognosis is totally different. We report a case of a 45 years old woman, with presurgical diagnosis of adnexal mass or uterine tumor. She underwent a total abdominal hysterectomy. Pathologic examination revealed an endometrial stromal nodule. Through this observation, we insist on the fact that the ESNs are rare and benign entities which must be differentiated from the other invasive malignant stromal tumors; this can change the final prognosis.
Two rare cancers of the exocrine pancreas: to treat or not to treat like ductal adenocarcinoma?
Authors: Nebojsa Skorupan, Shadin Ghabra, J Alberto Maldonado, Yang Zhang, Christine Alewine
Journal: J Cancer Metastasis Treat (2023)
Keywords: adenosquamous carcinoma of the pancreas, acinar cell carcinoma of the pancreas, rare exocrine pancreatic cancer

Pancreatic cancer is an aggressive malignancy with increasing incidence. Pancreatic ductal adenocarcinoma (PDAC) accounts for > 90% of pancreatic cancer diagnoses, while other exocrine tumors are much rarer. In this review, we have focused on two rare cancers of the exocrine pancreas: adenosquamous carcinoma of the pancreas (ASCP) and pancreatic acinar cell carcinoma (PACC). The latest findings regarding their cellular and molecular pathology, clinical characteristics, prognosis, and clinical management are discussed. New genetic and transcriptomic data suggest that ASCP is related to or overlaps with the basal transcriptomic subtype of PDAC. These tumors are highly aggressive and driven by activated KRAS and MYC expression. Clinical outcomes remain poor and effective treatments are limited. PACC has no morphologic or genetic resemblance to PDAC and more favorable outcomes. Early stage PACC patients have improved survival with surgical resection and patients with advanced disease benefit most from platinum- or fluoropyrimidine-containing chemotherapy. Frequency of actionable genetic mutations is high in this disease and case reports suggest good outcomes when matched therapy is given. Dedicated clinical studies examining ASCP and PACC are limited and difficult to accrue. Further research is needed to define optimal clinical management for these rare diseases.