OpenMed/multicare-articles huggingface dataset:
Retroperitoneal Solitary Fibrous Tumor: A "Patternless" Tumor
Authors: D Myoteri, D Dellaportas, C Nastos, I Gioti, G Gkiokas, E Carvounis, T Theodosopoulos
Journal: Case Rep Oncol Med (2017)
MeSH terms: Case Reports

Introduction:
Solitary fibrous tumor is a rare type of mesenchymal, spindle-cell tumor reported mostly in the pleura. Retroperitoneal occurrence is rare and histopathological diagnosis is challenging.
Case presentation:
A 55-year-old woman with nonspecific abdominal pain was found to have a retroperitoneal/pelvic mass adjacent to the upper rectum. The patient underwent surgical resection in clear margins of this pelvic tumor, entering the total mesenteric excision surgical plane. Final histopathology revealed a solitary fibrous tumor and the case is presented herein.
Discussion:
Solitary fibrous tumor in the retroperitoneum is rarely found in the literature and to the best of our knowledge less than a hundred cases are described so far. Histopathological diagnosis is mostly based on a "patternless pattern" on microscopic examination, which is a storiform arrangement of spindle cells combined with a "hemangiopericytoma-like appearance" and increased vascularity of the lesion. Surgery is the mainstay of treatment and recurrence rates are generally low.
Synchronous Surgical Treatment of Lower Eyelid Involutional Entropion and Ptosis
Authors: D Vasakos, E Nakos, C Sioulis
Journal: Case Rep Ophthalmol Med (2018)
MeSH terms: Case Reports

Background:
Involutional entropion and upper eyelid ptosis are common eyelid diseases in the elderly population. They represent a frequent cause of discomfort and often result in significant visual and functional impairment. The surgical management of these disorders includes various treatment options and techniques and is usually carried out in multiple time sessions.
Case report:
We report the case of a 72 year old female patient, suffering from right eye involutional lower eyelid entropion and ptosis, who was treated synchronously for both conditions, by applying the lateral tarsal strip procedure and the levator resection technique.
Conclusion:
The synchronous treatment of involutional entropion and ptosis is an alternative treatment strategy, which could potentially improve surgical outcome, while reducing postoperative recovery time and treatment costs.
12p deletion spectrum syndrome: a new case report reinforces the evidence regarding the potential relationship to autism spectrum disorder and related developmental impairments
Authors: Marcio Leyser, Bruno Leonardo Dias, Ana Luiza Coelho, Marcio Vasconcelos, Osvaldo J M Nascimento
Journal: Mol Cytogenet (2016)
Keywords: 12p microdeletion spectrum, 12p132 microdeletion, autism spectrum disorder, developmental delay
MeSH terms: Case Reports

Background:
Autism Spectrum Disorders (ASD) now encompass a broad heterogeneous group of people who present in the early developmental years with a wide range of social and communication deficits, which are typically also associated with complex repetitive behaviors and circumscribed interests. The target goal is to heighten readers' perception into the trend to personalize the distinct autistic and related developmental conditions encompassing the 12p region.
Case presentation:
This is a case-report of a 4-year-old male who presented the core signs of ASD, which were thought to be related to a rare 12p13.2 deletion. We further reviewed the literature in order to outline the related developmental conditions in the 12p region. Aside from this patient reported here, we found an additional number of 43 cases described in the medical literature since 1974, that have been related to deletions in the 12p region. However, to the best of our knowledge, none of the previous had been specifically linked to the 12p13.2 band.
Conclusions:
The 12p deletion spectrum is rarely described as part of the selective genotypes thought to be related to ASD. Even inside of a small piece of the puzzle, there might be ample variation in the behavioral and clinical phenotypes of children and adults presenting with this particular genetic profile. In that regard, the particular 12p13.2 distal deletion presentation is one of the possible genotypes encompassed by the "12p deletion spectrum syndrome", that might be potentially connected to the diagnosis of ASD and related developmental disorders.
N-Acetylaspartate Biomarker of Stroke Recovery: A Case Series Study
Authors: Tyler Austin, Ali Bani-Ahmed, Mihaela Carmen Cirstea
Journal: Front Neurol Neurosci Res (2021)
Keywords: chronic subcortical stroke, n-acetylaspartate, arm therapy, primary motor cortex

Background and purpose:
Strong experimental neurobehavioral evidence suggests that intensive training improves arm motor disability after stroke. Yet, we still have only limited understanding why some patients recover more completely and others do not. This is in part due to our limited knowledge of the neurobiological principles of recovery from stroke. Mounting evidence suggests that functional and structural remapping of the primary motor cortex (M1) plays a major role in arm recovery after stroke. We used MR Spectroscopy to test the hypothesis that therapy-related arm improvement is associated with changes in levels of a putative marker of neuronal integrity (N-acetylaspartate, NAA) in M1 controlling the paretic arm (ipsilesional M1) in chronic stroke patients (n=5).
Methods:
Patients (1 female, age, mean ± SD, 58.4 ± 5.8 years) underwent 4-week arm-focused motor training (1080 repetitions of a reach-to-grasp task) at 13.6 ± 5.3 months after stroke onset. NAA levels in the ipsilesional M1 and arm impairment (Fugl-Meyer, FM, 66=normal; proximal FM, FMp, 30=normal) were assessed prior to and immediately after training.
Results:
At baseline, patients exhibited moderate-to-mild arm impairment (FM, 47.2 ± 18.8, FMp, 22.2 ± 8.6) and showed lower levels of NAA compared with age/sex-matched healthy controls (10.2 ± 0.9 mM in patients vs. 11.6 ± 1.6 mM in controls, p=0.03). After training, arm impairment improved (FM by 7%, 50.6 ± 17.5, p=0.01; FMp, by 5%, 23.4 ± 8.2, p=0.2) and NAA levels increased by 10.5% (11.2 ± 1.2 mM, p=0.1). Changes in NAA positively correlated with changes in FM (r=0.63, p=0.2) and FMp (r=0.93, p=0.03), suggesting that patients who show greater neuronal changes have a better chance of recovery.
Conclusions:
Our data suggest the potential use of M1 NAA as a biomarker of motor recovery after stroke. However, because of our small sample, these preliminary results should be interpreted cautiously. Further work with larger sample sizes is warranted.
A Surgical Technique to Repair Perineal Body Disruption Secondary to Sexual Assault
Authors: Giulia Brisighelli, Marc A Levitt, Richard J Wood, Christopher J Westgarth-Taylor
Journal: European J Pediatr Surg Rep (2020)
Keywords: perineal injury, perineal reconstruction, perineal trauma, posterior sagittal anorectoplasty, sexual assault
MeSH terms: Case Reports

Perineal trauma is uncommon in the pediatric population and it is estimated that 5 to 21% is secondary to sexual abuse. We aim to present a proposed surgical technique to repair perineal injuries secondary to sexual assault in female children. The technique is based on the posterior sagittal anorectoplasty (PSARP) for repairing anorectal malformations and, between 2017 and 2019, it was used to treat three girls (2 months, 2 years, and 8 years of age) with fourth-degree perineal injuries secondary to sexual assault. One of them underwent laparotomy and Hartmann's colostomy for an acute abdomen. Two underwent wound debridement and suturing and only had a stoma fashioned at 5 days and 6 weeks posttrauma, respectively. The perineal repair was performed 2, 6, and 7 weeks postinjury and done as follows: with the child prone in jack-knife position, stay-sutures are placed on the common wall between the rectum and the vagina. Using a needle tip diathermy, a transverse incision is performed below the sutures lifting the anterior rectal wall up. Stay sutures are then positioned on the posterior wall of the vaginal mucosa. The incision between the walls is deepened until the rectum and the vagina are completely separated. The deep and superficial perineal body is then reconstructed using absorbable sutures and an anterior anoplasty and an introitoplasty are performed. The stoma in each was closed 6 weeks postreconstruction. At follow-up, now 1 year or more postrepair, all patients have an excellent cosmetic outcome and are fully continent for stools.
Epidermoid cyst of the tonsil: a rare finding
Authors: Rachida Bouatay, Sondos Jellali, Nouha Abdejelil, Jamel Koubaa
Journal: Pan Afr Med J (2019)
Keywords: epidermoid cyst, surgery, tonsil
MeSH terms: Epidermal Cyst / diagnosis, Headache / etiology, Palatine Tonsil / pathology, Case Reports, Adult, Chronic Disease, Female, Humans

Epidermoid cysts (ECs) are benign lesions that can be encountered throughout the body, but with a low incidence in the head and neck (1.6 to 7%). In oral cavity, the most common affected site is floor of the mouth, but tonsillar location remains extremely rare (less than 0.01%). Here we present an epidermoid cyst of the right palatine tonsil which was incidentally detected in a patient who consulted for a chronic headache.
Examination of Ecological Systems Contexts Within a Latino-Based Community Sport Youth Development Initiative
Authors: Mayra V Robledo, Michael B Edwards, Jason N Bocarro, Andrew O Behnke, Jonathan M Casper
Journal: Front Sports Act Living (2022)
Keywords: juntos, latinx adolescents, community programs, ecological systems theory, qualitative evaluation, sport-for-development (sfd)

Youth Development Programs (YDPs) can serve as effective mechanisms to alleviate social and psychological adversities while enhancing and developing resilience among youth. Recently, more YDPs have incorporated sport within Sport for Development (SFD) models to achieve these goals. Due to the growing Latino population in the US and the wide achievement gap between Latinos and other demographic populations, there is a need to explore programs that may support individual development as well as long-term change with regard to social inequality. There is also a need to better understand the ecological contexts within SFD programs and how these contexts may support underserved youth. Specifically, using an ecological systems perspective, this study seeks to explore the implementation of a sport program by a YDP in order to examine the ecological processes that may support or inhibit the efficacy of sport programs working with underserved youth. Juntos is a YDP that primarily serves Latinx youth and families by assisting youth with graduating high school and pursuing higher education opportunities. Juntos incorporates two annual soccer tournaments (i.e., Kicking it with Juntos and Copa Unidos). A qualitative case study approach was implemented in two counties in North Carolina. Interviews were conducted with tournament participants, county coordinators and planning committee members. Findings found three key themes related to three ecological levels 1. At the Microsystem level, sport was implemented to engage youth and connect to non-sport program outcomes, but divergent perceptions of goals among stakeholders potentially inhibited intentional implementation. At the Mesosystem level, sport provided a mechanism to engage in collaborative relationships and encouraged parental participation. At the Macrosystem level, sport celebrated Latino culture and attempted to address social barriers facing Latinx youth, but some aspects of culture may have created barriers to access for girls. Findings suggested that while the programs emphasized mesosystem engagement, more integration across exosystem and macrosystem levels may be needed for sustainable outcomes.
Leukemoid Reaction in Infant Pertussis: Is There a Place for Hydroxyurea? A Case Report
Authors: Guillaume Maitre, Damien Schaffner, Julia Natterer, David Longchamp, Thomas Ferry, Manuel Diezi, Stefano Di Bernardo, Marie-Hélène Perez, Vivianne Amiet
Journal: Front Pediatr (2018)
Keywords: bordetella pertussis, hydroxyurea, hyperleukocytosis, leukemoid reaction, white blood cell count
MeSH terms: Case Reports

A 73-days old infant of 34 weeks' gestation was hospitalized with a co-infection of respiratory syncytial virus (RSV) and Bordetella pertussis (BP). She required invasive ventilation for 9 days in the context of malignant pertussis with persistent hypoxemia and hypercapnia secondary to a leukemoid reaction. Despite an increase of white blood cell (WBC) count up to 70 G/L and ensuing pulmonary hypertension, no hemodynamic compromise occurred. Without clear indication for leukapheresis nor exchange transfusion, an off-label treatment with hydroxyurea was given for 5 days with gradual decrease of WBC count, without any complication and hospital discharge on day 29. To our knowledge, no effective therapy for malignant pertussis has been described in the literature and complications are frequent with leukoreduction procedures. We discuss an alternative to invasive procedures in young infants to fulfill the need to decrease rapidly leukocyte counts in a leukemoid reaction associated with Bordetella pertussis infection. To our knowledge, hydroxyurea has never been used in malignant pertussis but is a well-known medication for oncologic and hematologic diseases such as acute myeloid leukemia or sickle cell anemia. Its effects in this setting are not well understood but the positive outcome in our patient supports the need for further studies.
Computerized database management system for breast cancer patients
Authors: Kok Swee Sim, Sze Siang Chong, Chih Ping Tso, Mohsen Esmaeili Nia, Aun Kee Chong, Siti Fathimah Abbas
Journal: Springerplus (2014)
Keywords: breast cancer patients, computerized database, hospital management system

Data analysis based on breast cancer risk factors such as age, race, breastfeeding, hormone replacement therapy, family history, and obesity was conducted on breast cancer patients using a new enhanced computerized database management system. My Structural Query Language (MySQL) is selected as the application for database management system to store the patient data collected from hospitals in Malaysia. An automatic calculation tool is embedded in this system to assist the data analysis. The results are plotted automatically and a user-friendly graphical user interface is developed that can control the MySQL database. Case studies show breast cancer incidence rate is highest among Malay women, followed by Chinese and Indian. The peak age for breast cancer incidence is from 50 to 59 years old. Results suggest that the chance of developing breast cancer is increased in older women, and reduced with breastfeeding practice. The weight status might affect the breast cancer risk differently. Additional studies are needed to confirm these findings.
Subdural Hemorrhage after Scoliosis and Detethering of Cord Surgery
Authors: Rohan Bhimani, Fardeen Bhimani, Preeti Singh
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

Introduction:
Intracranial hypotension may occur when CSF leaks from the subarachnoid space. Formation of intracranial, subdural, and subarachnoid hemorrhage has been observed after significant CSF leak as seen in lumbar puncture or ventricular shunt placement. However, very few cases, referring to these remote complications following spine surgery, have been described in literature. We present a case of a 10-year-old male child operated for idiopathic scoliosis with low-lying conus medullaris who postoperatively developed subdural hemorrhage.
Case report:
A case of a 10-year-old male operated for idiopathic scoliosis with low-lying conus medullaris is presented. To correct this, detethering was done at the L3 level, laminectomy was done from L2 to L3 with pedicular screw fixation from T3 to L2, and bone grafting with right costoplasty was done from the 3rd to the 6th ribs. On the 5th day postoperatively, the patient developed convulsions and drowsiness and recovered subsequently by postoperative day 7.
Conclusion:
We report a rare case of an acute intracranial subdural hemorrhage caused by intracranial hypotension following scoliosis and detethering of cord surgery. This report highlights the potential morbidity associated with CSF leak occurring after this surgery.
Two Novel HSD17B4 Heterozygous Mutations in Association With D-Bifunctional Protein Deficiency: A Case Report and Literature Review
Authors: Si Chen, Linrun Du, Yihui Lei, Yuanyuan Lin, Shangqin Chen, Yanli Liu
Journal: Front Pediatr (2021)
Keywords: d-bifunctional protein deficiency, hsd17b4, hypotonia, neonatal seizures, peroxisomal disease
MeSH terms: Case Reports

Background: D-Bifunctional protein deficiency (D-BPD) is an autosomal recessive disorder caused by peroxisomal β-oxidation defects. According to the different activities of 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase protein units, D-bifunctional protein defects can be divided into four types. The typical symptoms include hypotonia and seizures. The gene that encodes D-BP was HSD17B4, which is located in chromosome 5q23.1. Case Presentation: We report the first case of D-BPD in a Chinese patient with neonatal onset. Cosmetic malformations, severe hypotonia and seizures are prominent. The blood bile acid profile showed increased taurocholic acid, glycocholic acid, and taurochenodeoxycholic acid. Very-long-chain fatty acids (VLCFAs) revealed significant increases in hexacosanoic acid (C26:0), tetracosanoic acid/docosanoic acid (C24:0/C22:0), and hexacosanoic acid/docosanoic acid (C26:0/C22:0). Cranial MRI revealed bilateral hemispheric and callosal dysplasia, with schizencephaly in the right hemisphere. EEG showed loss of sleep-wake cycle and epileptiform discharge. Other examinations include abnormal brainstem auditory evoked potentials (BAEPs) and temporal pigmented spots on the optic disc in the right eye. After analysis by whole-exome sequencing, heterozygous c.972+1G>T in the paternal allele and c.727T>A (p.W243R) in the maternal allele were discovered. He was treated with respiratory support, formula nasogastric feeding, and antiepileptic therapy during hospitalization and died at home due to food refusal and respiratory failure at the age of 5 months. Conclusions: Whole-exome sequencing should be performed in time to confirm the diagnosis when the newborn presents hypotonia, seizures, and associated cosmetic malformations. There is still a lack of effective radical treatment. Supportive care is the main treatment, aiming at controlling symptoms of central nervous system like seizures and improving nutrition and growth. The disease has a poor outcome, and infants often die of respiratory failure within 2 years of age. In addition, heterozygous deletion variant c.972+1G>T and missense mutations c.727T>A (p.W243R) are newly discovered pathogenic variants that deserve further study.
Resolution of autoimmune oophoritis after thymectomy in a myasthenia gravis patient
Authors: Esra Deniz Papatya Çakır, Özlem Özdemir, Erdal Eren, Halil Sağlam, Mehmet Okan, Ömer Faruk Tarım
Journal: J Clin Res Pediatr Endocrinol (2011)
MeSH terms: Myasthenia Gravis / complications, Oophoritis / surgery, Polyendocrinopathies, Autoimmune / surgery, Primary Ovarian Insufficiency / surgery, Thymectomy, Case Reports, Amenorrhea / complications, Bipolar Disorder / chemically induced, Female, Humans, Myasthenia Gravis / surgery, Oophoritis / complications, Ovarian Cysts / etiology, Ovarian Cysts / surgery, Ovarian Diseases / surgery, Polyendocrinopathies, Autoimmune / complications, Prednisolone / adverse effects, Primary Ovarian Insufficiency / etiology, Prednisolone, Autoimmune oophoritis

Myasthenia gravis (MG) is an autoimmune disorder characterized by autoantibodies against acetylcholine receptors. MG is generally an isolated disorder but may occur concomitantly with other autoimmune diseases. We describe an eighteen-year-old girl with MG who was admitted to our clinic with secondary amenorrhea and diagnosed as autoimmune oophoritis. Since her myasthenic symptoms did not resolve with anticholinesterase therapy, thymectomy was performed. After thymectomy, her menses have been regular without any hormonal replacement therapy. To our knowledge, this is the first report on a patient with autoimmune ovarian insufficiency and MG in whom premature ovarian insufficiency resolved after thymectomy, without hormonal therapy.
Cutaneous sarcoidosis simulating porokeratosis of Mibelli
Authors: Fatima Zahra Elfatoiki, Wessal Soussi, Soumia Chiheb, Lamia Jabri, Hakima Benchikhi
Journal: Pan Afr Med J (2015)
Keywords: sarcoidosis, granuloma, porokeratosis of mibelli
MeSH terms: Porokeratosis / diagnosis, Sarcoidosis / diagnosis, Skin Diseases / diagnosis, Case Reports, Anti-Inflammatory Agents / administration & dosage, Anti-Inflammatory Agents / therapeutic use, Biopsy, Humans, Hydroxychloroquine / administration & dosage, Hydroxychloroquine / therapeutic use, Male, Middle Aged, Porokeratosis / pathology, Prednisone / administration & dosage, Prednisone / therapeutic use, Remission Induction / methods, Sarcoidosis / drug therapy, Sarcoidosis / pathology, Skin Diseases / drug therapy, Skin Diseases / pathology, Anti-Inflammatory Agents, Hydroxychloroquine, Prednisone

We report a skin localization of systemic sarcoidosis, which presented with lesions that resemble porokeratosis of Mibelli. Skin biopsy showed non-caseating sarcoidal granuloma. Whereas cutaneous sarcoidosis is present in up to one-third of cases and may present with a wide variety of lesions, our presentation is uncommon. Partial remission was obtained with hydroxychloroquine and prednisone.
An Unusual Manifestation of Blastic Plasmacytoid Dendritic Cell Neoplasm as a Testicular Tumor
Authors: Daniel M Pak, Maria S Tretiakova
Journal: Case Rep Pathol (2019)
MeSH terms: Case Reports

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a clinically aggressive hematologic malignancy arising from precursors of plasmacytoid dendritic cells that represent less than 1% of hematological malignancies. BPDCN initially presents with cutaneous involvement and a characteristic immunophenotype of CD4, CD56, and CD123 co-expression. Upon disease progression, BPDCN shows a strong predilection for bone marrow, peripheral blood, and lymph nodes, whereas manifestations in visceral organs are rare. Significant heterogeneity in clinical presentation and immunophenotypic profile makes BPDCN challenging to diagnose without an integrated approach based on patient history, clinical features, tumor pathology, and comprehensive immunohistochemical studies. Herein we report the first case of relapsed BPDCN manifesting as a unilateral testicular tumor.