OpenMed/multicare-articles huggingface dataset:
Primary malignant mixed müllerian mesodermal tumor mimicking a rectosigmoid carcinoma: a case report and review of the literature
Authors: Sakshi Kapur, Levin Miles
Journal: Case Rep Oncol Med (2014)

We report a case of a 53-year-old female who presented with chronic constipation and abdominal discomfort for six months. Her past surgical history was significant for a total abdominal hysterectomy with bilateral salpingooophorectomy, performed eight years ago, for uterine fibroids and endometriosis. Workup revealed a mass measuring 5 × 4.5 × 2 cm in the rectosigmoid colon. Patient underwent a low anterior resection and a fungating, centrally ulcerated rectosigmoid mass with a positive mesorectal margin was removed. Histopathology revealed a heterologous mixed mesodermal tumor (chondroid and osteoid elements). The epithelial component was compatible with a grade 2 endometrioid adenocarcinoma. Immunohistochemical stains were supportive, with positive expression for CK7 and ER, negative for CK20, and only very focally and weakly positive for both CDX2 and p63. Chromogranin, synaptophysin, and TTF-1 were negative. Following surgery, she was treated with five cycles of carboplatin (AUC 6) and paclitaxel (175 mg/m(2)), followed by irradiation. Twenty-six months later, patient continues to be asymptomatic and disease-free. Mixed müllerian mesodermal tumors mimicking colorectal cancer have been reported in the past. Our case highlights the rarity and the challenges encountered in diagnosing and treating these rare tumors.
A Case of Placenta Percreta Managed with Sequential Embolisation Procedures
Authors: Shannon Armstrong-Kempter, Supuni Kapurubandara, Brian Trudinger, Noel Young, Naim Arrage
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Background:
The incidence of morbidly adherent placenta, including placenta percreta, has increased significantly over recent years due to rising caesarean section rates. Historically, abnormally invasive placenta has been managed with caesarean hysterectomy; however nonsurgical interventions such as uterine artery embolisation (UAE) are emerging as safe alternative management techniques. UAE can be utilised to decrease placental perfusion and encourage placental resorption, thereby reducing the risk of haemorrhage and other morbidities.
Case:
We describe one of the very few reported cases of placenta percreta which was successfully treated primarily with sequential artery embolisation. Our patient underwent four embolisation procedures over a period of 248 days, with no major morbidity or complications.
Conclusion:
Repeat UAE may be a beneficial primary management modality in cases of placenta percreta with bladder involvement.
Case Report: Neonatal Cholestasis as Early Manifestation of Primary Adrenal Insufficiency
Authors: Fabiola Di Dato, Donatella Capalbo, Rita Mirra, Francesca Del Vecchio Blanco, Mariacarolina Salerno, Raffaele Iorio
Journal: Front Pediatr (2021)
Keywords: cortisol, familial glucocorticoid deficiency (fgd), hypoglycemia, jaundice, liver
MeSH terms: Case Reports

Neonatal cholestasis (NC) may be due to multiple surgical and non-surgical causes, some of which are potentially fatal. The list of potential causes of NC is long, and the systematic search for each of them is challenging in infants, especially when overt signs of underlying disease are lacking. Endocrinological diseases as causes of NC are rare and sometimes misdiagnosed. We report the case of an infant with prolonged cholestatic jaundice due to adrenal insufficiency suspected because of a single episode of hypoglycemia occurring at birth in the absence of clinical signs of adrenal impairment. Clinical exome analysis identified a new homozygous variant in MC2R gene as a putative responsible for familial glucocorticoid deficiency (FGD). Adrenal insufficiency should always be considered in all cholestatic infants, even in the absence of specific symptoms, since early recognition and treatment is essential to prevent life-threatening events.
Complementary Effects of Surgery and Pexidartinib in the Management of Patients with Complex Diffuse-Tenosynovial Giant Cell Tumor
Authors: Nicholas M Bernthal, R Lor Randall, Lauren N Zeitlinger, Erik J Geiger, John H Healey
Journal: Case Rep Orthop (2022)
MeSH terms: Case Reports

Tenosynovial giant cell tumor (TGCT) is a rare neoplasm of the joint synovium that has a wide clinical spectrum including pain and stiffness in the affected joint, joint swelling, periarticular erosions, and cartilage loss, which can severely impact quality of life. The mainstay treatment for TGCT has been surgery involving partial or total synovectomy using arthroscopic or open techniques. However, surgical resection alone is associated with high recurrence rates, particularly in diffuse-TGCT (D-TGCT) cases. The 3 cases presented here summarize a combination approach (surgery+pexidartinib [tyrosine kinase inhibitor]) in patients with previously unresectable or inoperable D-TGCT. Case 1-Hip. A 29-year-old male was treated with pexidartinib prior to surgery, resulting in tumor reduction. A left total hip arthroplasty (THA) was then performed with a lack of recurrence in 12 months postoperative, and the patient currently on pexidartinib treatment. Case 2-Foot. A 35-year-old female, nearly a decade following a left foot mass resection, was treated with pexidartinib following disease recurrence. A decrease in soft tissue lesions at the midfoot and decreased marrow enhancement at the first metatarsal head were seen within 4-5 months of pexidartinib treatment; the patient is currently on pexidartinib (400 mg/day) with improved symptom control. Case 3-Knee. A 55-year-old male patient received pexidartinib pre- and postoperatively. A reduction in swelling and the size of the popliteal cyst was significant and maintained, with the synovial disease growing when pexidartinib was discontinued. Surgery and adjuvant therapy eliminated the disease as of the last follow-up visit (11 months postoperative). These cases provide a unique perspective based on tumor location, type/timing of treatment strategy, and patient outcomes. Optimal treatment strategies for this debilitating disease may entail utilizing a combination approach (surgery+systemic treatment) to reduce surgical morbidity and the risk of postoperative disease recurrence.
Gemella haemolysans Infection in Total Hip Arthroplasty
Authors: Barry Rose, Parminder J S Jeer, Anthony J Spriggins
Journal: Case Rep Orthop (2012)
MeSH terms: Case Reports

Gemella haemolysans is a Gram-positive coccus and commensal of the upper respiratory tract and oral mucosa that rarely causes clinically important infections. There is only one previous report of this organism causing periprosthetic infection, in a total knee arthroplasty. We present a case of septic loosening of an uncemented total hip arthroplasty due to G. haemolysans, in an asplenic patient with insulin dependent diabetes mellitus. Treatment with two-stage revision has been successful at 7 years of follow-up.
Staged limbal stem cell transplantation and keratoplasty surgeries as a treatment for gelatinous drop-like corneal dystrophy
Authors: Tayaba N Azher, Amanda C Maltry, Joshua H Hou
Journal: GMS Ophthalmol Cases (2023)
Keywords: allogeneic limbal stem-cell transplantation, gelatinous drop-like corneal dystrophy (gdld), penetrating keratoplasty (pkp)
MeSH terms: Case Reports

Gelatinous drop-like corneal dystrophy (GDLD) is a rare autosomal recessive corneal dystrophy that has been associated with mutations in the TACSTD2 (M1S1) gene, which is normally expressed in corneal epithelial cells. GDLD is characterized by progressive deposition of amyloid in the corneal stroma with rapid recurrence in grafts after penetrating keratoplasty. We report of case of a patient with GDLD treated bilaterally with staged limbal stem cell transplantation and penetrating keratoplasty that resulted in long-term control of his disease. This case demonstrates that staged allogenic limbal stem cell transplantation, before or after penetrating keratoplasty, can be used to restore vision long-term in GDLD patients.
Duplicate Vas Deferens Encountered during Inguinal Hernia Repair: A Case Report and Literature Review
Authors: Maxwell C Breitinger, Evan H Roszkowski, Adam J Bauermeister, Andrew A Rosenthal
Journal: Case Rep Surg (2016)

Duplication of the vas deferens is a rare anomaly, defined as the presence of two distinct vasa deferentia within one spermatic cord, with only 28 cases reported worldwide since 1959. We report the case of a 63-year-old man with a duplicate vas deferens, presenting with abdominal pain from bowel obstruction secondary to incarcerated inguinal hernia. Spermatic cord dissection during hernioplasty revealed duplication of the vas deferens within the right spermatic cord. Doppler ultrasonography confirmed absence of waveforms in both vasa deferentia with arterial signal in the accompanying vessel. The hernia was repaired without complication. This report emphasizes recognition of duplicate vas deferens in avoiding iatrogenic injury and optimizing surgical outcome.
Do integrative approaches to health contribute to self-reliance in primary healthcare? reflections from a community case study in Kerala, India
Authors: B S Shivanand, M Tushara, P M Unnikrishnan, Jayanna Krishnamurthy
Journal: Health Psychol Behav Med (2022)
Keywords: integrative healthcare approaches, health policy, health system, primary healthcare, self-reliance, social determinants of health

A pluralistic Health system provides options for people to choose appropriate healthcare approach. However, the ability to make informed decision is infleuenced by many factors. An informed decision is one of the attributes of self-reliance. In this study, through the interactions with smallholder farmers, we tried to travel through the realm of communities' integrative practices and perceptions with a specific focus on traditional medicine concerning animal and human health. We aimed to understand what influences healthcare choices, mainly traditional medicine among people and how it contributes to self-reliance in primary healthcare. We conducted this case study in Aluva taluk of Ernakulam district in Kerala, India. Study participants were selected using the purposive sampling method and the data collected through 22 in-depth interviews and participant observation. Integrative healthcare practice is fragmented due to variations in the evidence perception by the people. Personal experiences, social and cultural factors, and health literacy influence health decisions in practicing integrative healthcare. Therefore, while investigating a concept like self-reliance, there is a need for analytical methods to embrace experiential, textual, inherited, and incorporated forms of learning. This further helps researchers and policymakers to recommend context-specific and sustainable solutions to create self-reliant communities in primary healthcare.
Periorbital Silicone Granulomatosis 30 Years after Acupuncture
Authors: Nathan Pirakitikulr, Ann Q Tran, Armando L Garcia, Sander R Dubovy, Wendy W Lee
Journal: Case Rep Ophthalmol Med (2020)
MeSH terms: Case Reports

Silicone-based compounds are commonly used in many medical applications, such as coatings for needles and syringes. Foreign body granulomas are a well-recognized complication of silicone exposure; however, they may be challenging to identify without a clear history. A 61-year-old female patient without prior history of periocular injections, filler, or surgery presented to our oculoplastic clinic with multiple periocular lesions. The patient subsequently underwent excisional biopsy of two prominent lesions, which were identified as granulomas on pathology. Further questioning revealed the cause to be facial acupuncture performed decades prior, and a subsequent targeted exam identified additional lesions at other needling sites. A third lesion was subsequently excised, and there was no recurrence at the last follow-up 3 months postsurgery. Acupuncture is an increasingly common but underrecognized source of silicone exposure and can present up to several decades after exposure as a chronic granulomatous response in a characteristic multifocal pattern.
A Japanese family with popliteal pterygium syndrome
Authors: Motoki Katsube, Koh-Ichiro Yoshiura, Kenji Kusumoto
Journal: Case Reports Plast Surg Hand Surg (2015)
Keywords: cleft lip and palate, irf6, popliteal pterygium syndrome, van der woude syndrome
MeSH terms: Case Reports

We investigated a family in which the mother and a daughter suffered from popliteal pterygium syndrome (PPS). Mutation in the interferon regulatory factor 6 (IRF6) gene was detected in the mother and daughter. This is the second report of a family case with mutation in the IRF6 gene in Japanese patients with PPS.
Acute Rheumatic Fever and Kawasaki Disease Occurring in a Single Patient
Authors: Kazuki Iio, Naoya Fukushima, Keiji Akamine, Kazuhiro Uda, Hiroshi Hataya, Masaru Miura
Journal: Front Pediatr (2020)
Keywords: kawasaki disease, kawasaki shock syndrome, acute rheumatic fever, diagnostic delay, rebound phenomenon
MeSH terms: Case Reports

Kawasaki disease and acute rheumatic fever are two major causes of acquired heart disease in the pediatric population. Although both conditions are well-known entities, the association between them has never been described. We report herein a case of 6-year-old male patient who first presented with Kawasaki shock syndrome, followed by acute rheumatic fever 1 year later. In contrast to the prompt intervention given for atypical Kawasaki disease, in the present case the diagnosis was significantly delayed during the otherwise typical presentation of acute rheumatic fever. Our case highlights the difficulty experienced by many pediatricians in developed nations in diagnosing acute rheumatic fever due to its comparative rarity. To prevent diagnostic errors, all pediatricians should be alert to the possibility of acute rheumatic fever even if they are practicing in areas where it is not endemic.
Participant views on practical considerations for feedback of individual genetic research results: a case study from Botswana
Authors: Dimpho Ralefala, Mary Kasule, Olivia P Matshabane, Ambroise Wonkam, Mogomotsi Matshaba, Jantina de Vries
Journal: Glob Bioeth (2023)
Keywords: africa, botswana, practical considerations, adolescents, feedback of results, genetics, parents

Key to discussions around feedback of individual results from genomics research are practical questions on how such results should be fed back, by who and when. However, there has been virtually no work investigating these practical considerations for feedback of individual genetic results in the context of low-and middle-income countries (LMICs), especially in Africa. Consequently, we conducted deliberative focus group discussions with 6 groups of adolescents (n = 44) who previously participated in a genomics study in Botswana as well as 6 groups of parents and caregivers (n = 49) of children who participated in the same study. We also conducted in-depth interviews with 6 adolescents and 6 parents or caregivers. Our findings revealed that both adolescents and parents would prefer to receive their individual genetic results in person, with adolescents preferring researchers to provide feedback, while parents preferred doctors who are associated with the study. Both adolescents and parents further expressed that feedback should be supported by counselling but differed on the timing of feedback, with preferences ranging from feedback as quickly as possible to feedback at project end. In conclusion, decisions on practicalities for feedback of results should be done in account of participants' context and considerations of participants' preferences.
Syncope: An Atypical Presentation of Pulmonary Embolism Secondary to Occult Uterine Malignancy
Authors: Zulfiqar Qutrio Baloch, Muhammad Ayyaz, Muhammad Hussain, Shabber Agha Abbas, Fnu Samreen
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

All syncopal patients who present to the emergency department should be considered for pulmonary embolism (PE) as part of their differential diagnosis. PE presenting as a syncopal episode and associated with occult uterine malignancy is uncommon. Review of the literature indicates that up to 10% of patients with unprovoked venous thromboembolism (VTE) are diagnosed with cancer in the year following that first episode of VTE. In patients suspected of having a PE who do not manifest any source of an embolism require eventual workup to screen for an occult malignancy. Here, we report a 74-year-old female who presented to the emergency department following an unexplained sudden loss of consciousness and eventually was found to have a massive saddle embolus caused by a uterine malignancy-induced VTE.
An Unusual Presentation of Lupus Vulgaris and the Practical Usefulness of Dermatoscopy
Authors: Grigorios Theodosiou, Marina Papageorgiou, Ioanna Mandekou-Lefaki
Journal: Case Rep Dermatol Med (2018)
MeSH terms: Case Reports

We report a case report of lupus vulgaris (LV) presented on the extremities of an 80-year-old man. He was misdiagnosed as having psoriasis and referred to our department for a second-opinion evaluation. The discrepancy between the clinical manifestation which was misleading and the dermatoscopic findings raised the suspicion of an underlying granulomatous disease and we proceeded to skin biopsy. The histopathologic examination set the diagnosis of LV.
Oral Phenotype of Singleton-Merten Syndrome: A Systematic Review Illustrated With a Case Report
Authors: Margot Charlotte Riou, Muriel de La Dure-Molla, Stéphane Kerner, Sophie Rondeau, Adrien Legendre, Valerie Cormier-Daire, Benjamin P J Fournier
Journal: Front Genet (2022)
Keywords: singleton–merten syndrome, genetics, oral physiopathology, rare diseases, type 1 interferonopathy
MeSH terms: Systematic Review

Background: Singleton-Merten syndrome type 1 (SGMRT1) is a rare autosomal dominant disorder caused by IFIH1 variations with blood vessel calcifications, teeth anomalies, and bone defects. Aim: We aimed to summarize the oral findings in SGMRT1 through a systematic review of the literature and to describe the phenotype of a 10-year-old patient with SGMRT1 diagnosis. Results: A total of 20 patients were described in the literature, in nine articles. Eight IFIH1 mutations were described in 11 families. Delayed eruption, short roots, and premature loss of permanent teeth were the most described features (100%). Impacted teeth (89%) and carious lesions (67%) were also described. Our patient, a 10-year-old male with Singleton-Merten syndrome, presented numerous carious lesions, severe teeth malposition, especially in the anterior arch, and an oral hygiene deficiency with a 100% plaque index. The panoramic X-ray did not show any dental agenesis but revealed very short roots and a decrease in the jaw alveolar bone height. The whole-genome sequencing analysis revealed a heterozygous de novo variant in IFIH1 (NM_022168.4) c.2465G > A (p.Arg822Gln). Conclusion: Confused descriptions of oral features occurred in the literature between congenital findings and "acquired" pathology, especially carious lesions. The dental phenotype of these patients encompasses eruption anomalies (delayed eruption and impacted teeth) and lack of root edification, leading to premature loss of permanent teeth, and it may contribute to the diagnosis. An early diagnosis is essential to prevent teeth loss and to improve the quality of life of these patients. Systematic Review Registration: [https://www.crd.york.ac.uk/prospero/], identifier [CRD42022300025].
Severe leptospirosis infection in a non-epidemic area
Authors: Rioto Suzuki, Mari Terayama, Minoru Tanda
Journal: IDCases (2021)
Keywords: acute kidney injury, leptospirosis, pulmonary hemorrhage, weil’s disease
MeSH terms: Case Reports

A 39-year-old man visited our hospital with lower leg pain and fever. We suspected sepsis because of an infectious disease. He was hospitalized, and treatment was initiated. After admission, we received information that mice were present in his living environment. Moreover, we considered leptospirosis in the differential diagnosis and started the administration of ceftriaxone and minocycline. On the 10th day after admission, after examination by the National Institute on Infectious Diseases, we diagnosed him with leptospirosis. The patient was transferred to the hospital for rehabilitation on day 23 after admission. It is important to consider leptospirosis even in non-epidemic area.
Paraplegia due to Thoracic Mobile Schwannoma after Myelography
Authors: Akira Honda, Yoichi Iizuka, Tokue Mieda, Hiroyuki Sonoda, Sho Ishiwata, Yohei Kakuta, Daisuke Tsunoda, Eiji Takasawa, Tsuyoshi Tajika, Hiromi Koshi, Hirotaka Chikuda
Journal: Case Rep Orthop (2020)
MeSH terms: Case Reports

Introduction:
Spinal mobile tumors are very rare. We herein report a case of paraplegia caused by migration and incarceration of thoracic mobile schwannoma after myelography. Case Presentation. A 25-year-old man who had weakness and numbness in both his legs also had pain radiating to the back that was induced by back flexion or extension and jumping. Magnetic resonance imaging (MRI) showed an intradural extramedullary lesion at the T10 and T11 levels. Myelography was performed but discontinued due to his back and lower limb pain. Computed tomography after myelography revealed a rostrally migrated intradural mass with a discrepancy in the exact location in comparison to the MRI findings. He underwent a second lumbar puncture and drained the cerebrospinal fluid (CSF) to aid the spinal cord, because the symptoms gradually worsened and led to paraplegia. After the drainage of the CSF, his symptoms were immediately resolved. The day after myelography, he underwent complete resection of the tumor with the diagnosis of schwannoma. One year after the surgery, he had been working despite having hyperreflexia in his lower limbs with no weakness or sensory disturbance.
Conclusion:
Severe neurological deficits associated with spinal cord damage can occur due to migration of mobile tumors.
Non syndromic supernumerary teeth: management of two clinical cases
Authors: Akram Belmehdi, Soukayna Bahbah, Karima El Harti, Wafaa El Wady
Journal: Pan Afr Med J (2018)
Keywords: supernumerary teeth, hyperdontia, impacted teeth, radiographic images, surgical management
MeSH terms: Tooth Extraction / methods, Tooth, Impacted / surgery, Tooth, Supernumerary / surgery, Case Reports, Female, Humans, Young Adult

Supernumerary teeth are extra teeth or tooth-like structures. Single, double, or multiple teeth that occur in one or both jaws may be erupted or unerupted and unilateral or bilateral. Supernumeraries are less common in primary dentition than in permanent dentition. The etiology of ST is still unknown. A number of theories have been postulated to try to explain their presence, including atavism (evolutionary throwback), tooth germ dichotomy, genetic and environmental factors, and hyperactivity of the dental lamina. However, all theories are hypothetical due to the inability to obtain sufficient embryologic material on their origin. The aim of this paper is two present two case reports of non syndromic supernumerary teeth in female patients and their management.