OpenMed/multicare-articles huggingface dataset:
Nodular fasciitis of the face: A case report
Authors: Shems Al-Hayder, Mads Warnecke, Jørgen Hesselfeldt-Nielsen
Journal: Int J Surg Case Rep (2019)
Keywords: benign neoplasm, case report, face, nodular fasciitis

Introduction:
Nodular fasciitis is a benign, self-limited myofibroblastic proliferative lesion of unclear aetiology. It is often misdiagnosed as a malignant tumour due to its rapid growth, high cellularity, and increased mitotic activity.
Presentation of case:
We present a case of nodular fasciitis occurring in the medial canthus of a 64-year-old, otherwise healthy, woman. The patient complained of rapidly enlarging asymptomatic subcutaneous nodule over a period of 6 months. The tumour was firm, smooth, and indolent with limited mobility. Fine-needle aspiration was inconclusive, and the CT scan showed a well-defined nodular lesion in the soft tissue without bone destruction. A local excision was performed, and the histopathological findings were consistent with nodular fasciitis.
Discussion:
Although rare, nodular fasciitis is the most common pseudosarcoma of soft tissues. Local excision is recommended; however, the tumour often regresses spontaneously, and recurrence is exceedingly rare.
Conclusion:
Awareness of nodular fasciitis and its benign nature is essential to avoid misdiagnosis and subsequent inappropriate aggressive treatment of the patient.
Therapeutic Collaboration in Career Construction Counseling: Case Studies of an Integrative Model
Authors: Filipa Silva, Maria do Céu Taveira, Paulo Cardoso, Eugénia Ribeiro, Mark L Savickas
Journal: Front Psychol (2022)
Keywords: career construction, career counseling, career narrative, case study, change process, coding system, good outcome, therapeutic collaboration

The mapping of therapeutic collaboration throughout counseling deepens our understanding of how the helping relationship fosters client change. To better understand the process of career construction counseling (CCC), we analyzed the therapeutic collaboration on six successful face-to-face cases. The participants were six Portuguese adults, five women and one man, real clients of a career counseling service, and four psychologists, three female and one male trained in the career intervention model. The participants completed demographic questions and measures of career certainty, vocational identity, career indecision, and psychological functioning. The Therapeutic Collaboration Coding System was used to track collaboration throughout all interactive episodes. The clinical significance of the intervention was calculated by analyzing pre-post-test statistical differences for each case, with the Reliable Change Index and Z score. The findings evidenced a pattern of therapeutic collaboration evolution for good outcome cases. Based on this pattern, we propose a model of process-outcome evolution for the three phases of CCC.
Helsmoortel-van der Aa syndrome in a Chinese pediatric patient due to ADNP nonsense mutation: A case report
Authors: Li-Juan Chen, Zhong-Min You, Wen-Hong Chen, Si Yang, Chun-Chen Feng, Hai-Yong Wang, Ting Wang, Yuan-Yuan Zhu
Journal: Front Pediatr (2023)
Keywords: adnp, helsmoortel–van der aa syndrome, autism spectrum disorder, case report, developmental delay
MeSH terms: Case Reports

Background:
Helsmoortel-van der Aa syndrome, also known as ADNP syndrome, is a condition that causes developmental delay, language impairment, autism spectrum, and variable extraneurologic features. It is caused by heterozygous mutations in the ADNP gene on chromosome 20q13. Most of the genetic causes of Helsmoortel-van der Aa syndrome have been reported are as de novo nonsense or frameshift stop mutations in exon 5 of ADNP gene, while fewer truncating variants were discovered in exons 4 and the 5' end of exon 5.
Methods:
In our study, a 4-year-old female Chinese patient was reported with delayed psychomotor development, language impairment, ataxia, anxiety, aggressive behavior, and congenital heart defect. Trio whole exome sequencing and copy number variation sequencing were performed.
Results:
A novel de novo heterozygous pathogenic mutation c.568C > T (p.Gln190Ter) was identified in the ADNP gene of the proband. His unaffected parents did not have the variant. According to the American College of Medical Genetics (ACMG) guidelines, c.568C > T was classiﬁed as "pathogenic".
Conclusion:
Our report indicated that c.568C > T (p.Gln190Ter) in ADNP gene is the cause of abnormal development of the nervous system, congenital heart disease and strabismus, broadening the spectrum of ADNP gene mutations associated with Helsmoortel-van der Aa syndrome.
Canine Snake-Eye Myelopathy: Clinical, Magnetic Resonance Imaging, and Pathologic Findings in Four Cases
Authors: John H Rossmeisl Jr, Thomas E Cecere, Gregg D Kortz, David A Geiger, Richard L Shinn, Jonathan Hinckley, David L Caudell, Jessica A Stahle
Journal: Front Vet Sci (2019)
Keywords: canine, central cord syndrome, cervical spinal cord, intervertebral disc disease, myelomalacia
MeSH terms: Case Reports

Intramedullary signal change (ISC) is a non-specific finding that is frequently observed on magnetic resonance imaging (MRI) examinations of the canine spinal cord. ISC can represent a variety of primary pathological processes such as neoplasms or myelitides or secondary changes such as edema, cysts, gliosis, or myelomalacia. An unusual phenotype of ISC is the "snake-eye" myelopathy (SEM), which refers to bilaterally symmetric T2 hyperintensities preferentially affecting the ventral horn gray matter on transverse MR images, which resemble a pair of snake's eyes. The pathophysiology of SEM is poorly understood in humans, and this imaging finding may be associated with cervical spondylotic myelopathy, spinal cord ischemia, ossification of the posterior longitudinal ligament, amyotrophic lateral sclerosis, and Hirayama disease. Here we describe four dogs with cervical MRI examinations consistent with an SEM-like phenotype. All dogs initially presented with a central cord syndrome or tetraparesis referable to a C6-T2 neuroanatomic localization, which was attributed to disc-associated spinal cord compression in three cases, while one dog had the SEM-like phenotype with no identifiable etiology. Once the SEM-like phenotype was present on MRI examinations, dogs demonstrated insidious clinical deterioration despite therapeutic interventions. Deterioration was characterized by lower motor neuron weakness and neurogenic muscle atrophy progressing to paralysis in the thoracic limbs, while neurological functions caudal to the level of the SEM-like lesion remained largely preserved for months to years thereafter. Neuropathological features of the SEM-like phenotype include multisegmental cavitations and poliomyelomalacia of laminae VI-IX of the caudal cervical spinal cord, although the lesion evolved into pan-necrosis of gray matter with extension into the adjacent white matter in one case with an 8 years history of progressive disease. Although the pathophysiology of SEM remains unknown, the topographical distribution and appearance of lesions is suggestive of a vascular disorder. As the SEM-like phenotype was uniformly characterized by longitudinally and circumferentially extensive neuronal necrosis, results of this small case series indicate that dogs with clinical signs of central cord syndrome and the SEM-like phenotype involving the cervicothoracic intumescence on MR examinations have a poor prognosis for the preservation or recovery of thoracic limb motor function.
A new method of sentinel node mapping for early gastric cancer using a fluorescent laparoscope that can adjust the intensity of excitation light and quantify the intensity of indocyanine green fluorescence: Report of a case
Authors: Teppei Kamada, Masashi Yoshida, Hideyuki Takeuchi, Satoshi Narihiro, Hironori Ohdaira, Yutaka Suzuki
Journal: Int J Surg Case Rep (2020)
Keywords: icg, sentinel node mapping, vision sense
MeSH terms: Case Reports

Introduction:
One of the drawbacks of indocyanine green (ICG) fluorescence sentinel node (SN) mapping is the impossibility of quantifying lymph node fluorescence during surgery. VISION SENSE® is a new near-infrared fluorescence laparoscope for bright-field full-color observation, and provides the ability to adjust the intensity of excitation light and quantify the intensity of ICG fluorescence during observation. We report the case of a patient who underwent ICG SN mapping for early gastric cancer using VISION SENSE®.
Presentation of case:
A woman in her 60 s was diagnosed with cType0-IIc early gastric cancer located in the anterior wall of the middle gastric body (25 mm in diameter, cT1b, cN0, cM0, cStage IA). Contrast-enhanced computed tomography showed no metastases. Laparoscopy assisted distal gastrectomy with D1+ lymph node dissection and SN mapping with ICG fluorescence using the VISION SENSE® were successfully performed. Using VISION SENSE®, we could select those lymph nodes objectively showing high intensity by quantifying ICG fluorescence during surgery. The pathological diagnosis was well-differentiated adenocarcinoma, pT1a, N0, M0, pStage IA. No ICG-positive lymph nodes (8 nodes) contained metastases. Postoperative course was good, with no complications.
Discussion:
The use of VISION SENSE® allowing adjustment of excitation light and quantification of ICG fluorescence intensity might decreased the false-negative rate for SNs and increased the sensitivity of the ICG for detecting SNs.
Conclusion:
We successfully performed ICG SN mapping for early gastric cancer using VISION SENSE®.
Palliation with oesophageal metal stent of pseudoachalasia from gastric carcinoma at the cardia: a case report
Authors: Salvatore Maria Antonio Campo, Roberto Lorenzetti, Marina de Matthaeis, Cesare Hassan, Angelo Zullo, Paola Cerro, Sergio Morini
Journal: Diagn Ther Endosc (2009)
MeSH terms: Case Reports

We present an 82-year-old woman with a 3-month history of progressive dysphagia and a normal initial upper gastrointestinal endoscopy. The diagnosis of pseudoachalasia was suspected by oesophageal manometric and barium swallow studies, and confirmed by biopsies revealing an intestinal type carcinoma of the stomach at a repeated endoscopy. In view of the history of heart disease, diabetes, and old age, this patient was treated by a partially covered Ultraflex self-expanding metal stent (Boston Scientific, Natick, MA, USA) placed into the oesophageal body with no direct complications and obtaining the relief from dysphagia. During the 11-month follow-up she was treated for an iron deficiency anaemia due to reflux oesophagitis with ulcerations in the oesophageal body and died from myocardial infarction. According to the localization of the cancer, the old age, and the presence of comorbidities, we should recommend the insertion of a partially covered self-expanding metal stent as a reasonable palliative treatment in selected subjects with pseudoachalasia.
A Case Report of Congenital Fiber Type Disproportion with an Increased Level of Anti-ACh Receptor Antibodies
Authors: Shigemi Kimura, Shiro Ozasa, Keiko Nomura, Hirofumi Kosuge, Kowasi Yoshioka
Journal: Case Rep Pediatr (2013)

Congenital fiber type disproportion (CFTD) is a form of congenital myopathy, which is defined by type 1 myofibers that are 12% smaller than type 2 myofibers, as well as a general predominance of type 1 myofibers. Conversely, myasthenia gravis (MG) is an acquired immune-mediated disease, in which the acetylcholine receptor (AChR) of the neuromuscular junction is blocked by antibodies. Thus, the anti-AChR antibody is nearly specific to MG. Herein, we report on a case of CFTD with increased anti-AChR antibody levels. A 23-month-old boy exhibited muscle hypotonia and weakness. Although he could walk by himself, he easily fell down and could not control his head for a long time. His blood test was positive for the anti-AChR antibody, while a muscle biopsy revealed characteristics of CFTD. We could not explain the relationship between MG and CFTD. However, we considered different diagnoses aside from MG, even when the patient's blood is positive for the anti-AChR antibody.
Single-Stage Orbital Socket Reconstruction Using the Oversized Dermis Fat Graft and the 22 mm Silicone Orbital Implant after an Extended Enucleation
Authors: Biljana Kuzmanović Elabjer, Mladen Bušić, Daliborka Miletić, Mirjana Bjeloš, Borna Šarić, Damir Bosnar
Journal: Case Rep Ophthalmol Med (2018)
MeSH terms: Case Reports

We would like to present a surgical technique of orbital socket reconstruction using oversized dermis fat graft and 22 mm silicone orbital implant in a single-stage after extended enucleation in two patients with massive local recurrence of anteriorly located choroidal melanoma previously treated with endoresection. Orbital tissues en bloc were removed leaving conjunctival lining only at the fornices. Simultaneously, the 22 mm silicone sphere was implanted deeply into the orbit and covered with the oversized dermis fat graft of 30 mm in height and 35 mm in length with 20 mm of the fat thickness. The graft was sutured to the residual forniceal conjunctiva with interrupted 6/0 absorbable sutures overlapping conjunctiva with the graft edge for 2 mm to facilitate the epithelization. Epithelization was completed in two months, leaving well-formed fornices with good fitting of the prosthesis. The key point of orbital socket reconstruction after extended enucleation is to restore conjunctival lining prior to volume. Thus, whenever facing a massive volume and conjunctival lining loss, simultaneous insertion of the 22 mm silicone sphere deep into the orbit combined with oversized dermis fat graft is, in our opinion, the method of choice. It proved to be safe and effective with favourable long-term results.
Mandibular Osteitis Leading to the Diagnosis of SAPHO Syndrome
Authors: Tomohiro Kikuchi, Hiroyuki Fujii, Akifumi Fujita, Tomoko Sugiyama, Hideharu Sugimoto
Journal: Case Rep Radiol (2018)
MeSH terms: Case Reports

Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is a disorder characterized by pustular skin lesions and osteoarticular lesions. Mandibular involvement of SAPHO syndrome is clinically rare, and it is difficult to reach a diagnosis of SAPHO syndrome from only mandibular manifestations. This report describes the case of a 26-year-old woman who presented with mandibular osteitis. Orthopantomogram and computed tomography showed sclerotic change of the right body of the mandible with periosteal reaction without odontogenic infection, which suggested the possibility of SAPHO syndrome. Detailed medical interview found that she had a history of palmoplantar pustulosis treated at a local dermatology clinic and additional bone scintigraphy showed diffuse increased uptake in the right mandible, as well as in the sternum and the sternocostoclavicular joints. She was eventually diagnosed as having SAPHO syndrome. We should consider SAPHO syndrome when we encounter a patient with mandibular osteitis of unknown etiology.
Case Report: Whole-Exome Sequencing-Based Copy Number Variation Analysis Identified a Novel DRC1 Homozygous Exon Deletion in a Patient With Primary Ciliary Dyskinesia
Authors: Ying Liu, Cheng Lei, Rongchun Wang, Danhui Yang, Binyi Yang, Yingjie Xu, Chenyang Lu, Lin Wang, Shuizi Ding, Ting Guo, Shaokun Liu, Hong Luo
Journal: Front Genet (2022)
Keywords: cnv, drc1, multiple morphological abnormalities of the sperm flagella, primary ciliary dykinesia, whole-exome sequencing
MeSH terms: Case Reports

Objective: Whole-exome sequencing (WES) based copy number variation (CNV) analysis has been reported to improve the diagnostic rate in rare genetic diseases. In this study, we aim to find the disease-associated variants in a highly suspected primary ciliary dyskinesia (PCD) patient without a genetic diagnosis by routine WES analysis. Methods: We identified the CNVs using the "Exomedepth" package in an undiagnosed PCD patient with a negative result through routine WES analysis. RNA isolation, PCR amplification, and Sanger sequencing were used to confirm the variant. High-speed video microscopy analysis (HSVA) and immunofluorescence analysis were applied to detect the functional and structural deficiency of nasal cilia and sperm flagella. Papanicolaou staining was employed to characterize the morphology of sperm flagella. Results: NC_000002.11(NM_145038.5): g.26635488_26641606del, c.156-1724_244-2550del, r.156_243del, p. (Glu53Asnfs*13), a novel DRC1 homozygous CNV, was identified by WES-based CNV analysis rather than routine variants calling, in a patient from a non-consanguineous family. HSVA results showed no significant change in ciliary beating frequency but with reduced beating amplitude compared with normal control, and his spermatozoa were almost immotile. The diagnosis of multiple morphological abnormalities of the sperm flagella (MMAF) was established through sperm motility and morphology analysis. PCR amplification and Sanger sequencing confirmed the novel variant of DRC1. Immunofluorescence showed that both cilia and sperm flagella were deficient in protein expression related to the dynein regulatory complex. Conclusion: This report identifies a novel DRC1 disease-associated variant by WES-based CNV analysis from a highly suspected PCD patient with MMAF. Our findings not only expand the genetic spectrum of PCD with MMAF but suggest that in combination with CNV analysis might improve the efficiency of genetic tests.
Primary Paratesticular Leiomyosarcoma: A Case Report and Literature Review
Authors: Zeineb Naimi, Semia Zarraa, Salma Kammoun, Safia Yahyaoui, Maha Driss, Chiraz Nasr
Journal: Case Rep Urol (2020)
MeSH terms: Case Reports

Paratesticular soft tissue sarcomas are very rare malignant mesenchymal tumors. With only few cases reported in the literature, data regarding diagnostic and management of these tumors are limited. We reported a case of primary paratesticular leiomyosarcoma in a 72-year-old man complaining of a progressively growing painless right scrotal mass. The patient underwent radical inguinal right orchiectomy and adjuvant 3D conformal radiotherapy to the tumor bed including the surgical scar. The prescription dose was 54 Gy, and no pelvic irradiation was performed. He remained free of recurrence for the last 16 months.
Squamous cell carcinoma on an arteriovenous fistula scar: case report
Authors: Vinicius Tadeu Ramos da Silva Grillo, Pedro Luciano Mellucci, Marina Moraes Lopes Soares, Nathalia Dias Sertorio, Rodrigo Gibin Jaldin, Marcone Lima Sobreira, Eloisa Bueno Pires de Campos, Matheus Bertanha
Journal: J Vasc Bras (2023)
Keywords: arteriovenous fistula, skin neoplasms, squamous cell carcinoma
MeSH terms: Case Reports

The main type of access used for hemodialysis is the arteriovenous fistula (AVF) because it offers superior patency and lower complication rates when compared to other hemodialysis accesses. We report the case of a 69-year-old female patient with chronic kidney disease on dialysis secondary to hypertensive nephrosclerosis with a radiocephalic AVF in the left upper limb created 9 years previously. Two years previously, she had undergone a kidney transplant and was taking immunosuppressants. A crusted lesion developed on her left forearm with onset 3 months before presentation and she underwent an excisional biopsy that revealed a well-differentiated and superficially invasive squamous cell carcinoma, with lateral and deep surgical margins free from neoplasia. At 1-year follow-up, the patient showed no signs of neoplastic recurrence.
A Rare Case of Herpes Simplex Virus-2 Hepatitis with Negative Serology
Authors: Mohanad Soliman, Olalekan Akanbi, Ihab Almagdub, Kishore Karri, Pradeep Yarra, Saad Emhmed Ali, Hanine El Haddad
Journal: Case Reports Hepatol (2019)
MeSH terms: Case Reports

Herpes simplex virus-2 (HSV2) hepatitis represents a rare but serious complication of HSV2 infection that can progress to acute liver failure (ALF). We describe a case of a pregnant teenager who presented with four days of fever, headache, malaise, nausea, and vomiting. She was initially misdiagnosed with sepsis of unclear source and treated with broad-spectrum antibiotics. Empiric acyclovir was started one week into her hospitalization despite negative serologies while awaiting HSV2 PCR leading to complete resolution of symptoms. Given its high mortality and nonspecific presentation, clinicians should consider HSV hepatitis in all patients with acute hepatitis especially in high-risk population.
Ovarian pregnancy: a case report in a resource-poor setting
Authors: Florent Ymele Fouelifack, Jovanny Tsuala Fouogue, Jeanne Hortence Fouedjio, Zacharie Sando
Journal: Pan Afr Med J (2013)
Keywords: cameroon, ovarian pregnancy, ectopic, ovary
MeSH terms: Pregnancy, Ectopic / diagnosis, Pregnancy, Ectopic / therapy, Case Reports, Adult, Female, Health Resources / supply & distribution, Hemostatic Techniques, Humans, Laparotomy, Ovary, Poverty, Pregnancy, Pregnancy, Ectopic / economics

Ovarian pregnancy is very rare and to our knowledge, no case has been reported in Cameroon. We herein report a case at the Yaounde Central Hospital. It is the case of a 29 years old woman who consulted in emergency for left pelvic pain at 9 weeks of pregnancy. The level of beta human chorionic gonadotropin was 96702 milli-international Units/ milliliter and ultrasound revealed an intra-ovarian gestational sac, an empty uterus and no peritoneal effusion. In the absence of facilities for laparoscopy, an emergency laparotomy was done. We found the non ruptured mass inside the left ovary. The left fallopian tube, the uterus and the right adnexae were normal. We did a successful ovarian dissection and resection of gestational sac. Trophoblastic tissue was found at pathology. Similar symptoms should draw attention of practitioners on the plausibility of ovarian pregnancy.
Peritoneal and Pulmonary Tuberculosis in a Postpartum Female with Elevated Cancer Antigen 125 and Ascites
Authors: Olga Lavrynenko, Moulika Baireddy, Srilekha Bodepudi, Hector Santos, James Cortez, Olga Zemlianitsyna, Fernando Sanchez
Journal: Case Rep Infect Dis (2022)
MeSH terms: Case Reports

Background:
Peritoneal tuberculosis is a rare form of extrapulmonary tuberculosis and presents a challenging diagnosis because of its nonspecific clinical manifestations. Peritoneal TB mimics other pathologies, including abdominal carcinomatosis, especially when the patient presents with ascites and an elevated cancer antigen (CA)-125 levels. Case Presentation. A postpartum 20-year-old Hispanic female recently discharged after transverse cesarean surgery, presented to the ER with fever, chills, edema, abdominal distension, nausea, and vomiting. The patient was febrile, tachycardic, and hypotensive. Chest X-ray demonstrated alveolar and interstitial consolidations; chest CT revealed tree-in-bud opacities in the right lower lobe, suggestive of atypical (TB)/fungal infection. CT of the abdomen and pelvis demonstrated ascites, omental thickening, peritoneal thickening, and mesenteric adenopathy, suggestive of carcinomatosis. She was admitted with a presumed diagnosis of sepsis secondary to pneumonia and started empirically on broad-spectrum antibiotics without clinical improvement. A battery of oncology markers was ordered and revealed a mildly elevated cancer antigen (CA)-125. Diagnostic paracentesis showed lymphocytic predominance with positive mycobacteria PCR, elevated adenosine deaminase (ADA), and no malignant cells. Subsequently, the sputum acid-fast bacilli (AFB) stain returned positive for tuberculosis, confirming the diagnosis of pulmonary tuberculosis. A peritoneal biopsy was obtained and demonstrated caseating granulomas consistent with peritoneal tuberculosis. The patient was started on standard antituberculosis therapy with clinical improvement.
Conclusions:
This case highlights the need for a high-level of suspicion for peritoneal tuberculosis in a patient with pulmonary tuberculosis who presents with intra-abdominal ascites, omental thickening, peritoneal thickening, and mesenteric lymphadenopathy, despite the presence of an elevated CA-125 level.