OpenMed/multicare-articles huggingface dataset:
Feasibility and Acceptability of Game-Based Cortical Priming and Functional Lower Limb Training in a Remotely Supervised Home Setting for Chronic Stroke: A Case Series
Authors: Hyosok Lim, Nicholas Marjanovic, Cristian Luciano, Sangeetha Madhavan
Journal: Front Rehabil Sci (2022)
Keywords: cortical priming, gamification, stroke, telerehabilitation, walking

Background:
Movement-based priming has been increasingly investigated to accelerate the effects of subsequent motor training. The feasibility and acceptability of this approach at home has not been studied. We developed a game-based priming system (DIG-I-PRIMETM) that engages the user in repeated ankle movements using serious games. We aimed to determine the feasibility, acceptability, and preliminary motor benefits of an 8-week remotely supervised telerehabilitation program utilizing game-based movement priming combined with functional lower limb motor training in chronic stroke survivors.
Methods:
Three individuals with stroke participated in a telerehabilitation program consisting of 20-min movement-based priming using the DIG-I-PRIMETM system followed by 30-min of lower limb motor training focusing on strength and balance. We evaluated feasibility using reported adverse events and compliance, and acceptability by assessing participant perception of the game-based training. Motor gains were assessed using the 10-m walk test and Functional Gait Assessment.
Results:
All participants completed 24 remotely supervised training sessions without any adverse events. Participants reported high acceptability of the DIG-I-PRIMETM system, reflected by high scores on satisfaction, enjoyment, user-friendliness, and challenge aspects of the system. Participants reported overall satisfaction with our program. Post-training changes in the 10-m walk test (0.10-0.31 m/s) and Functional Gait Assessment (4-7 points) exceeded the minimal clinically important difference.
Conclusion:
Our results indicate that a remotely supervised game-based priming and functional lower limb exercise program is feasible and acceptable for stroke survivors to perform at home. Also, improved walking provides preliminary evidence of game-based priming to be beneficial as a telerehabilitation strategy for stroke motor recovery.
Case Report of Complete Radiological Response of a Thalamic Glioblastoma After Treatment With Proton Therapy Followed by Temozolomide and Tumor-Treating Fields
Authors: Marco Stein, Hildegard Dohmen, Bernhard Wölk, Fabian Eberle, Malgorzata Kolodziej, Till Acker, Eberhard Uhl, Alexandra Jensen
Journal: Front Oncol (2020)
Keywords: ttfields, biopsy, glioblastoma, proton therapy, radiological response
MeSH terms: Case Reports

Glioblastoma (GBM) is the most common and aggressive primary brain tumor in adults. We present a case of a 42-year-old male patient presenting with headache and vomiting. Imaging demonstrated obstructive hydrocephalus and a ring-enhancing lesion in the right posterior thalamus. After endoscopic third ventriculostomy and stereotactic biopsy, the histopathologic diagnosis of a malignant glioma was confirmed by DNA methylation array as GBM isocitrate dehydrogenase wild type. The patient was treated with combined treatment of chemoradiation with temozolomide (TMZ) including proton boost, TMZ maintenance, and tumor-treating fields. In this case report, complete radiological response was observed 1 year after the end of radiation therapy.
Familial progressive hyperpigmentation: a case report
Authors: Monica Yadav, Sugandha Ghonasgi, Rohit Shah, S M Meghana
Journal: Case Rep Dent (2012)
MeSH terms: Case Reports

Familial progressive hyperpigmentation (FPH) is a rare genodermatosis characterized by hyperpigmented patches in the skin and mucous membranes, present in early infancy, and increase in size and number with age. The genetic basis for FPH remains unknown. We report an unusual case of familial progressive hypermelanosis in a 17-year-old male patient with family history, who presented with a peculiar progressive oral pigmentation disorder. Diagnosis was confirmed by a series of hematological, biochemical, and histopathological investigations. Our paper stresses the need for the dentist to be aware of the systemic conditions that can also manifest in the oral cavity.
Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration
Authors: Haiyan Yang, Fang Cai, Hongmei Liao, Siyi Gan, Ting Xiao, Liwen Wu
Journal: Front Pediatr (2021)
Keywords: duchenne muscular dystrophy, ispd gene, dystroglycanopathies, limb-girdle muscular dystrophies, pediatric
MeSH terms: Case Reports

ISPD gene mutation-related diseases have high clinical and genetic heterogeneity, and no studies have yet reported any effective treatments. We describe six patients with dystroglycanopathies caused by ISPD gene mutations and analyze their genotypes and phenotypes to explore possible effective treatments. Our results confirm that the phenotype of limb-girdle muscular dystrophies can be easily misdiagnosed as Duchenne muscular dystrophy and that exon deletions of ISPD gene are relatively common. Moreover, low-dose prednisone therapy can improve patients' exercise ability and prolong survival and may be a promising new avenue for ISPD therapy.
Gastropleural Fistula as a Rare Complication of Gastric Sleeve Surgery: A Case Report and Comprehensive Literature Review
Authors: Fahad Alghanim, Ali Alkhaibary, Abdulmohsen Alzakari, Abdullah AlRumaih
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Gastropleural fistula (GPF) is a rare, life-threatening complication of gastric sleeve surgery. GPF is an uncommon differential diagnosis to consider in a patient presenting with a picture of pneumonia. As such, GPF should be suspected in a patient with a history of nonresolving pneumonia who recently underwent gastric sleeve surgery. To the best of our knowledge, only eight cases of gastropleural fistulas after bariatric surgery have been reported in the literature. Herein, we report a case of gastropleural fistula after gastric sleeve surgery and review the pertinent literature. A gastropleural fistula is an exceedingly rare and life-threatening complication postbariatric surgery. Nonsurgical conservative management (total parenteral nutrition, percutaneous drainage, and antibiotics with endoscopic stenting) can be considered.
Fetal MRI Characteristics of Exencephaly: A Case Report and Literature Review
Authors: Ali Sharif, Yihua Zhou
Journal: Case Rep Radiol (2016)

We present the fetal MRI characteristics of exencephaly, a rare malformation of the cranium. The fetus was initially misdiagnosed as anencephaly at 14 weeks of estimated gestational age (EGA) and later mislabeled as acrania at 20 weeks of EGA by ultrasound. A confirmatory magnetic resonance imaging (MRI) at 29 weeks of EGA demonstrated findings consistent with exencephaly, which was confirmed after birth. To our knowledge, no full fetal MRI characteristics have been described. We hope to use this case to review the key MRI findings in differentiating exencephaly from other cranial vault defects and to help early diagnosis of exencephaly as the appropriate use of correct nomenclature allows better research while giving parents the most accurate and appropriate counseling.
"Functional trapezius muscle reconstruction after resection of a desmoid tumor using an innervated gracilis free flap"
Authors: Federico De Michele, Olindo Massarelli, Mara Franza, Vittorio Gebbia, Salvatore D'Arpa
Journal: Case Reports Plast Surg Hand Surg (2022)
Keywords: innervated gracilis free flap, desmoid tumor, trapezius functional reconstruction
MeSH terms: Case Reports

Desmoid tumors are characterized by indolent growth, progressive invasion of surrounding tissues and a high rate of relapse. We present the case of a desmoid tumor rising from the trapezius of a young woman. Following resection, we performed a functional reconstruction using an innervated gracilis free flap.
Unusual Pathology in a Kidney from a Heart-Transplant Patient
Authors: Marie Larcher, Audey Delas, Clément Delmas, Olivier Cointault, Camille Dambrin, Arnaud Del Bello, Nassim Kamar
Journal: Case Rep Transplant (2017)
MeSH terms: Case Reports

Acute kidney injury (AKI) is often observed after heart transplantation. In this setting, acute tubular necrosis is the main histological finding on kidneys. We report the unusual pathology found in a kidney from a heart-transplant patient. The patient experienced several hemodynamic insults, massive transfusion, and implantation of a mechanical circulatory-support device before heart transplantation: there was prolonged AKI after transplantation. A kidney biopsy revealed acute tubular necrosis and renal hemosiderosis, which was probably related to the transfusion and to mechanical circulatory-support device-induced intravascular hemolysis. Assessment of iron during resuscitation could have prevented, at least partly, AKI.
Angioleiomyoma of the proper ulnar digital artery: Case report
Authors: Abdullah Essam Kattan, Khalid Arab, Mohammed Abdullah Alswayyed, Emran Algadiem, Qutaiba N M Shah Mardan
Journal: Int J Surg Case Rep (2020)
Keywords: angioleiomyoma, case report, hand tumor
MeSH terms: Case Reports

Introduction:
With the rarity and benign nature, angioleiomyoma is a tumor of disputed etiology that originates from the tunica media of the blood vessels. Lacking any characteristic clinical or radiological features, often leading to preoperative misdiagnosis, it is only diagnosed confidently on the basis of histopathology; for this reason combined with the rarity, angioleiomyoma would not be usually found at the top of the differential diagnosis list. Local excision is usually curative with excellent prognosis.
Case:
This report discusses a case of a 60-year-old healthy lady who complained of a chronic painless mass in the right 2nd digit. Originating from the proper ulnar digital artery, it was excised with no complications. Histopathology results confirmed the diagnosis of angioleiomyoma. No recurrence was observed 6 months following the procedure.
Discussion:
Out of the handful published papers concerned with angioleiomyoma in hands, few report the origin to be the digital artery.
Conclusion:
Further awareness about this tumor is required and it should be included in the differential diagnoses list of the treating surgeon.
Veno-Venous Surgical Bypass for Central Vein Occlusion in a Child: The First in the Literature
Authors: Karthigesu Aimanan, Mang Ning Ong, Kean Leong Koay, Caroline Yin Eng Siew, Firdaus Hayati, Hafizan Tajri
Journal: EJVES Vasc Forum (2023)
Keywords: arteriovenous fistula, central venous occlusion, esrf in children, peritoneal dialysis, veno-venous bypass
MeSH terms: Case Reports

Introduction:
During the past two decades, the incidence of chronic kidney disease (CKD) in children worldwide has steadily increased and, even in children, native arteriovenous fistula (AVF) remains the access of choice. Nevertheless, maintaining a well functioning fistula is limited by central venous occlusion due to the widespread use of central venous access devices before AVF creation.
Report:
A 10 year old girl with end stage renal failure dialysing through a left brachiocephalic fistula presented with left upper limb and facial swelling. She had previously exhausted the option of ambulatory peritoneal dialysis for recurrent peritonitis. A central venogram showed occlusion at the left subclavian vein, which was not amenable for angioplasty through either an upper limb or femoral approach. Given the precious fistula with concomitant worsening venous hypertension, an ipsilateral axillary vein to external iliac vein bypass was performed. Subsequently, her venous hypertension was significantly resolved. This report is the first in English literature on this surgical bypass in a child with central venous occlusion.
Discussion:
Central venous stenosis or occlusion rates are rising due to extensive central venous catheter use in the paediatric population with end stage renal failure. In this report, an ipsilateral axillary vein to external iliac vein bypass was used successfully as a safe temporary option to maintain AVF. Ensuring a high flow fistula pre-operatively and continued antiplatelet post-operatively will allow longer patency of the graft.
A dysmorphic child with a pericentric inversion of chromosome 8
Authors: Venkateshwari Ananthapur, Srilekha Avvari, Sujatha Madireddi, Pratibha Nallari, Jyothy Akka
Journal: Case Rep Pediatr (2012)
MeSH terms: Case Reports

An 8-year-old boy was referred to our institute with dysmorphic features such as mild lupus, micrognathia, low hair line, hypoplasia, hemi atrophy of left side of the face, abnormal size of ears, hypothenar, hypoplasia of chin, and tongue tie. MRI scan was found to be normal and EEG suggestive of generalized seizure disorder. Cytogenetic evaluation of the proband revealed a pericentric inversion of chromosome 8 with 46, XY, and inv 8 (p11.2; q21.2) karyotype.
Psychiatric Approach in Phantom Erection Postpenectomy Patient
Authors: Popy Arizona, Erikavitri Yulianti, Izzatul Fithriyah
Journal: Case Rep Psychiatry (2023)
MeSH terms: Case Reports

Introduction:
Phantom limb pain is a pain sensation experienced in the area of the missing body part. The pain generally appears in the first few days after surgery. PLP could occur in teeth, tongue, breast, eyes, rectum, bladder, testicles, and penis. Phantom pain in the penis is not only felt as pain but sometimes as an erection or urination, even after the removal of the penis. Clinical Case. A 35-year-old man was referred to the psychiatrist due to phantom erection after undergoing reimplantation of the penis by the urologist. A few days before the referral, he was admitted to the emergency department after a penile amputation that his wife performed. During the recovery phase after the penile reimplantation procedure, the patient worried about his penis' outcome and became depressed. The patient was in severe anxiety and moderate-to-severe depression status. Treatment. The patient was given nonpsychopharmacology such as supportive psychotherapy, family psychoeducation, relaxation and marital therapy, and psychopharmacology, such as amitriptyline 12.5 Mg PO two times a day and clobazam 10 Mg PO each day for 3 months. One and a half months later, his anxiety and depression were better.
Conclusion:
A psychiatric approach was needed in an amputated limb patient with psychopathologic symptoms. Nonpsychopharmacotherapy and psychopharmacotherapy were needed if the patient had symptoms. Further studies with a large number will be necessary to validate the psychiatric approach in amputated limb patients with psychopathologic symptoms cases.
LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient
Authors: Ivanka Dimova, Ivo Kremensky
Journal: Case Rep Genet (2018)
MeSH terms: Case Reports

Congenital muscle dystrophies (CMD) are genetically and clinically heterogeneous hereditary myopathies mainly with autosomal recessive type of inheritance. The most common form worldwide is considered to be merosin-deficient muscle dystrophy type 1A, called MDC1A (due to laminin-α2 defects as a result of LAMA2 gene mutation), accounting for 30-40% of total cases of CMD. The exact molecular and clinical diagnoses, respectively, are a prerequisite for the most effective treatment; sometimes orphan drugs exist for some rare diseases. One of such drugs is Tarix, which was FDA approved and announced in 2016 for treatment of MDC1A. Here we present a patient diagnosed postmortem as having early-onset LAMA2-related muscular dystrophy as a result of mutations in LAMA2, identified by Sanger sequencing in his parents: a novel nonsense mutation c.4452T>A in exon 31, identified in the mother, and a known pathogenic nonsense mutation c.2901C>A in exon 21, detected in the father. The truncating nature of both nonsense mutations made the clinical presentation severe and the outcome fatal. Genetic analysis in such cases of muscle dystrophy is of utmost impact, because it makes the correct diagnosis with at least some specific options for treatment, makes the prognosis depending on the severity of mutation discovered, determines reproductive risk, and offers prophylaxis in the family by means of prenatal or preimplantation diagnostics.
Bilateral Destructive Hip Disease from Untreated Juvenile Idiopathic Arthritis
Authors: Arash Calafi, Alton W Skaggs, Trevor J Shelton, Brian M Haus
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

We report a novel case of a pediatric patient with bilateral hip destruction from untreated Juvenile idiopathic arthritis (JIA). She was presented at the age of 9 with hip pain associated with bilateral acetabular dysplasia and a dislocated left femoral head. Only 1.5 years later, the patient developed complete destruction of the left femoral head and dislocated right femoral head. The authors have not identified literature describing a similar case report of bilateral femoral head destruction resulting from Persistent Oligoarticular JIA. Pediatric patients presenting with rapidly evolving destructive process should be evaluated for rheumatologic, infectious, and spinal etiologies.
Diagnosis and Management of Obesity Hypoventilation Syndrome during Labor
Authors: Brandon M Togioka, Sarah S McConville, Rachael M Penchoen-Lind, Katie J Schenning
Journal: Case Rep Anesthesiol (2021)
MeSH terms: Case Reports

Obesity hypoventilation syndrome (OHS) is a disorder in which patients with a body mass index ≥30 kg/m2 develop awake hypercapnia with a partial pressure of carbon dioxide ≥45 mm Hg, in the absence of other diseases that may produce alveolar hypoventilation. Additional clinical features include sleep disordered breathing, restrictive lung disease, polycythemia, hypoxemia, and an increased serum bicarbonate concentration (≥27 mEq/L). Anesthesia providers should be familiar with OHS because it is often undiagnosed, it is associated with a higher mortality rate than obstructive sleep apnea, and it is projected to increase in prevalence along with the obesity epidemic. In this case, a 33-year-old obese woman with presumed OHS developed respiratory acidosis during induction of labor. Continuous positive airway pressure treatment was initiated, but the patient continued to have hypercapnia. A cesarean delivery was recommended. The patient had baseline orthopnea due to her body habitus; thus, despite adequate labor analgesia, a cesarean delivery was completed with general endotracheal anesthesia. We believe this patient had OHS despite a serum bicarbonate <27 mEq/L, a partial pressure of oxygen >70 mm Hg, and a hemoglobin <16 g/dL, which would typically rule out OHS. Pregnant women experience a decrease in serum bicarbonate concentration due to progesterone-mediated hyperventilation, an increase in arterial oxygenation from increased minute ventilation and higher cardiac output, and a decrease in hemoglobin due to the physiologic anemia of pregnancy. Thus, OHS may be defined differently in pregnant than in non-pregnant patients.
Rheumatic aortic regurgitation in a patient with large congenital fenestrations in all three leaflets
Authors: Ahmadreza Jodati, Babak Kazemi, Naser Safaei
Journal: J Cardiovasc Thorac Res (2014)
Keywords: aortic regurgitation, aortic valve, valve fenestration
MeSH terms: Case Reports

Fenestrations of the aortic valve rarely produce significant valvular regurgitation. These are typically described as incidental findings with little clinical significance because they generally lie above their closing edges. Rarely however, when unusually large or multiple, they can lead to massive aortic regurgitation (AR), mostly in patients with chronic hypertension and/or aortic annular dilation. We operated a 52 year old normotensive male with chronic rheumatic AR and found large fenestrations in all three aortic cusps, hardly ever reported in rheumatic valvular involvement in the literature.
Elsberg syndrome in HSV-2 infection
Authors: Omar Belfaqeeh, Alexandria Markley, Mudita Patel, Brian Markoff, Georgina Osorio
Journal: IDCases (2023)
Keywords: elsberg syndrome
MeSH terms: Case Reports

Elsberg syndrome (ES) is a neuroinflammatory disease that causes acute or subacute lumbosacral radiculitis, with or without myelitis which accounts for approximately 5-10% of cauda equina syndrome and myelitis. We herein present a case of a middle-aged female who recently returned from the Dominican Republic and presented to the emergency room with complaints of a 10-day history of progressive lower extremity sensory changes and weakness preceded by transient bilateral arm pain and neck and head pressure. Based on clinical, radiographic, and serological testing the patient was diagnosed with HSV2 lumbosacral radiculitis (ES). After 21 days of Acyclovir, 5 days of high dose IV methylprednisolone, and one month of inpatient rehab, our patient was discharged home walking with a cane. As ES is poorly defined and rarely reported, it can be unrecognized in patients with acute cauda equina syndrome (CES). Appropriate testing for viral infection in a timely manner facilitates reaching a definitive diagnosis and prompt initiation of treatment, which is essential for resolution of symptoms.
Long-term Survival in a Patient with Metastatic Spinal Cord Compression from a Prostate Cancer with Ultra-high PSA: Case Report and Review of the Literature
Authors: Nhu Tram Nguyen, Sebastien Hotte, Ian Dayes
Journal: Cureus (2015)
Keywords: case report, literature review, prostate cancer, spinal cord compression, ultra-high psa
MeSH terms: Case Reports

A 77-year-old man presented to the hospital for non-ambulation of 48 hours prior to admission. He was found to have a metastatic spinal cord compression (MSCC), a PSA exceeding 27,000, and biopsy-confirmed prostate cancer. After palliative radiation (RT) to the spine and medical treatment, the patient recovered his functions fully and survived for more than 7.5 years, far beyond what would be expected based on current published literature. A systematic review of the literature of MSCC in patients with prostate cancer was carried out. Prognostic factors of ambulation after RT included pre-treatment neurological status, duration of neurological deficits, and severity of the neurological impairment. Positive predictive factors of local control included single level of metastasis, time of development of motor deficits of more than 14 days, no prior androgen-deprivation therapy (ADT), age under 65, and longer course of RT (10 fractions of 2 Gy). Absence of prior ADT, pre-treatment ambulation, a single site of metastasis, and haemoglobin of less than 12g/L were positive predictors for survival.
Optical Coherence Tomography Angiography of Combined Central Retinal Artery and Vein Occlusion
Authors: Shuo-Chieh Wu, Victor M Villegas, Jaclyn L Kovach
Journal: Case Rep Ophthalmol Med (2018)
MeSH terms: Case Reports

Optical coherence tomography angiography (OCTA) is a new, noninvasive technology that enables detailed evaluation of flow in the retinal and choroidal vasculature. The authors believe this to be the first report to describe the optical coherence tomography angiography findings associated with combined central retinal artery occlusion (CRAO) and central retinal vein occlusion (CRVO).