OpenMed/multicare-articles huggingface dataset:
Multimodal imaging of bilateral diffuse uveal melanocytic proliferation associated with an iris mass lesion
Authors: Jonathan Naysan, Claudine E Pang, Robert W Klein, K Bailey Freund
Journal: Int J Retina Vitreous (2016)
Keywords: bilateral diffuse uveal melanocytic proliferation, iris tumor, malignancy, melanocytes, swept-source optical coherence tomography, ultra-widefield
MeSH terms: Case Reports

Background:
Bilateral diffuse uveal melanocytic proliferation (BDUMP) is a rare, paraneoplastic syndrome characterized by bilateral painless visual loss and proliferation of choroidal melanocytes in association with an underlying systemic malignancy. We report a case of bilateral diffuse uveal melanocytic proliferation associated with an underlying gynecological malignancy that also features the infrequent finding of an iris mass lesion, using multimodal imaging including ultra-widefield imaging, spectral domain and swept-source optical coherence tomography.
Case presentation:
A 59-year-old white female with a prior history of gynecological malignancy in remission presented with progressive bilateral visual loss over several weeks. The patient was noted to have a focal iris mass lesion in her right eye. Ultra-widefield color fundus photography showed a characteristic bilateral 'giraffe pattern' of pigmentary changes extending into the periphery as well as multiple discrete deeply pigmented lesions. Ultra-widefield autofluorescence was useful for visualizing the full extent of involvement. Indocyanine green angiography helped to demarcate the discrete pigmented choroidal lesions. Swept-source OCT clearly delineated the alternating zones of retinal pigment epithelium (RPE) thickening and RPE loss, as well as the prominent choroidal infiltration and thickening.
Conclusions:
BDUMP is an important diagnosis to consider in the presence of multiple discrete melanocytic choroidal lesions, diffuse choroidal thickening, characteristic RPE changes, iris mass lesions and exudative retinal detachment. Ultra-widefield imaging may demonstrate more extensive lesions than that detected on clinical examination or standard field imaging. Imaging with SS-OCT shows choroidal and RPE characteristics that correlate well with known histopathology of this entity.
Squamous cell carcinoma over pilonidal chronic disease. A new therapeutic approach
Authors: A Mayol Oltra, E Boldó Roda, R Lozoya Albacar, V Morillo Macias, N Nobleja Quiles
Journal: Int J Surg Case Rep (2020)
Keywords: carcinoma, chemotherapy, pilonidal, radiotherapy, sacrococcigeal, squamous, surgery
MeSH terms: Case Reports

Introduction:
Pilonidal sinus is a very common disease. Malignant transformation occurs in 0,1% of patients. We present a case of squamous cell carcinoma arised from recurrent pilonidal disease, managed by multimodal treatment.
Presentation of case:
We present a 70-year-old man with chronic pilonidal sinus. Inflammation had worsened in previous months and exploration revealed a large ulcerative mass which biopsy showed a squamous cell carcinoma. CT scan and MRI imaging showed tumoral invasion of the coccyx and both gluteus major muscles. Neoadjuvant radiotherapy, chemotherapy as radiosensitizer and surgery with intraoperative radiotherapy was decided in the multidisciplinary tumor committee. Post neoadjuvant therapy MRI showed partial response with a decrease of the mass but persistence of the coccyx infiltration. Surgery consisted in en-bloc resection of the tumor with presacral tissues, coccyx and partial gluteal resection. Intraoperative radiotherapy was administered over the sacrum and in the bed of the coccyx resection. One week later, reconstructive surgery was practiced using a latissimus dorsi free flap, advancement of gluteal flaps and skin graft. Histological examination showed no residual tumor. The patient is currently asymptomatic and he has a satisfactory quality of life.
Discussion:
Although squamous cell carcinoma is rare, it must be suspected in patients with recurrent pilonidal disease. Diagnosis is done by histological examination of biopsies. This type of tumors have a high local recurrence rate.
Conclusion:
We propose a multimodal treatment that includes neoadjuvant radiotherapy and chemotherapy as radiosensitizer and surgery plus intraoperative radiotherapy with the aim to decrease local recurrence rate.
Dilemma and countermeasure of sustainable leadership in physical education development in southern rural Ningxia, China
Authors: Xiaoya Fu, Weiqiang Zhu
Journal: Front Psychol (2022)
Keywords: physical education, sporting leadership, sustainable leadership, sustainable strategies, technological support

Globally, above 1.4 billion adults did not reach the recommended level of physical education in their daily life, thus triple intendent reforms are proposed by the Ministry of Physical Education for the development of sporting leadership in schools, colleges, and universities, which are essentially important for the development of physical and mental health of the students. This article analyzes the situation of lacking sustainable sporting leadership among other factors related to Physical Education (PE) resources in the southern areas of Ningxia. A mixed and multi-method approach was adopted to conduct the study. First, an in-depth but an open-ended qualitative interview with the professionals was carried out, followed by cross-sectional data collected from the respondents in two districts of the southern mountainous area of Ningxia. Moreover, a case study was included to support the phenomenon from a contextual perspective. The study present that PE education needs a modernization and rejuvenation plan to link with PE development and its sustainable execution and implementation for the physical and mental development of the learners. Moreover, it is suggested to strengthen the development of physical education with/through the fields of regional integration of educational resources sharing, cultural elements and integration, latest technological tools, research-based and cultural supported curriculum, and endogenous strength construction to promote the development of school physical education. Furthermore, continuous monitoring and evaluation mechanisms need to be adopted to develop physical education in the region.
The First Case of L. pseudomesenteroides Pulmonary Infection and Literature Review
Authors: Liwan Dai, Yishi Li, Xiaobing Zhang, Ming Ding, Shuliang Guo
Journal: Case Rep Pulmonol (2020)
MeSH terms: Case Reports

L. pseudomesenteroides is a very rare bacterium that infects human beings, and it has been used as an industrial fermentation bacterium. At present, only a few cases have been reported about this bacterium infecting the human body, but most reports are mainly about sepsis. We will report on a woman with lymphoma who was successfully diagnosed by the use of transbronchial cryobiopsy (TBCB) with L. pseudomesenteroides pulmonary infection.
Glycyl tRNA Synthetase ( GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V
Authors: Peter Chung, Hope Northrup, Misbah Azmath, Ricardo A Mosquera, Shade Moody, Aravind Yadav
Journal: Case Rep Pediatr (2018)
MeSH terms: Case Reports

Distal hereditary motor neuropathies (dHMN) are a rare heterogeneous group of inherited disorders specifically affecting the motor axons, leading to distal limb neurogenic muscular atrophy. The GARS gene has been identified as a causative gene responsible for clinical features of dHMN type V in families from different ethnic origins and backgrounds. We present the first cohort of family members of Nigerian descent with a novel heterozygous p.L272R variant on the GARS gene. We postulate that this variant is the cause of dHMN-V in this family, leading to variable phenotypical expressions that are earlier than reported in previous cases. The exact cause for the observed clinical heterogeneity within the family is unknown. One explanation is that there are modifier genes that affect the phenotype. These cases highlight the possibility of considering pathogenic variants in the GARS gene as a potential cause of early onset axonal polyneuropathy with atypical presentation.
Prolactin-Secreting Leiomyoma Causing Hyperprolactinaemia Unresponsive to Dopamine Agonist Therapy and Resolution following Myomectomy
Authors: Lucinda Barry, Selvan Pather, Ash Gargya, Anthony Marren
Journal: Case Rep Endocrinol (2021)
MeSH terms: Case Reports

Prolactin-secreting leiomyomas are rare, with only eight cases reported in the literature. This case describes a 37-year-old female with hyperprolactinaemia (1846 mIU/L; 85-500 mIU/L) refractory to cabergoline causing infertility and galactorrhea. MRI pituitary was normal. The patient had a known enlarging uterine leiomyoma on serial pelvic ultrasounds (15.2 cm × 9.1 cm × 12.1 cm). The serum prolactin returned to subnormal levels two days postmyomectomy and showed recovery to normal levels in the months following surgery. Immunostaining of the leiomyoma for prolactin was negative. Despite not staining for prolactin, quick resolution of the patient's hyperprolactinaemia after myomectomy supports the diagnosis of a prolactin-secreting fibroid. A prolactin-secreting leiomyoma should be considered in patients with hyperprolactinaemia and normal pituitary MRI which is refractory to dopamine receptor agonist therapy who also have evidence of a uterine fibroid. In patients wishing to seek fertility, myomectomy should be considered to allow for normal ovulation and possibility of future fertility.
Neoadjuvant Savolitinib targeted therapy stage IIIA-N2 primary lung adenocarcinoma harboring MET Exon 14 skipping mutation: A case report
Authors: Meng Fu, Chun-Mei Feng, Da-Qing Xia, Zi-Mei Ji, Huai-Ling Xia, Na-Na Hu, Zai-Jun Leng, Wang Xie, Yuan Fang, Le-Jie Cao, Jun-Qiang Zhang
Journal: Front Oncol (2022)
Keywords: met exon 14 skipping, neoadjuvant therapy, non-small cell lung cancer, savolitinib, targeted therapy
MeSH terms: Case Reports

MET exon 14 skipping mutation (METex14m) is rare and occurs in approximately 1-4% of all non-small cell lung cancer (NSCLC) patients and approximately 2.8% of resected stage I-III NSCLC patients. Savolitinib is an oral, potent and highly selective type Ib MET inhibitor, which has been shown to be promising activity and acceptable safety profile in patients with advanced NSCLC harboring METex14m. Most recently, many studies have been probing into the feasibility and efficacy of target therapy for perioperative application in NSCLC. Interestingly, there are very few recorded cases of such treatments. Here, we presented that systemic treatment with the MET inhibitor savolitinib before surgery could provide the potential to prolong overall survival (OS) of patients with locally advanced potentially resectable NSCLC. A 49-year-old woman was diagnosed with stage IIIA (T2bN2M0) primary lung adenocarcinoma exhibiting a METex14m by real-time quantitative polymerase chain reaction (RT-qPCR). Given that the tumor load and the size of lymph nodes experienced a significant downstaging after the neoadjuvant treatment of savolitinib with 600mg once a day for 5 weeks, left lower lobectomy and systemic lymphadenectomy were successfully performed. The pathological response was 50% and the final postoperative pathological staging was pT1cN0M0, IA3 (AJCC, 8th edition). The case provides empirical basis for the neoadjuvant treatment with savolitinib in METex14m-positive locally advanced primary lung adenocarcinoma, which will offer some innovative insights and clinical evidence for more effective clinical treatment of neoadjuvant targeted therapy for METex14m-positive NSCLC.
GALD: new diagnostic tip for early diagnosis - a case report and literature review
Authors: Silvia Zermano, Alice Novak, Emanuela Vogrig, Nadia Parisi, Lorenza Driul
Journal: Front Reprod Health (2023)
Keywords: gald, hydrop, immunoglobuline therapy, pregnancy, ultrasound
MeSH terms: Case Reports

Objective:
Gestational alloimmune liver disease is a rare and serious condition caused by a maternal-fetal alloimmune disorder. There are not many studies about the antenatal treatment (IVIG infusion) of affected fetuses as the diagnosis is generally made postnatally. The possibility of an early diagnosis by means of ultrasonography and a gynecologist's assesment can provide prompt treatment of this disease.
Case report:
We report the case of 38-year-old pregnant woman referred to our centre in view of severe fetal hydrops seen by ultrasound at 31 weeks + 1 day gestation. A male infant was born and subsequently died after developing liver failure. Postmortem examination revealed the presence of diffuse hepatic fibrosis in the absence of hemosiderin deposits and no extrahepatic siderosis. Immunohistochemical analysis was also performed which showed diffuse hepatocyte positivity for the terminal complement complex (C5b-C9) confirming the suspicion of GALD.
Methods:
A comprehensive literature search published from 2000 to 2022 was conducted on PubMed and Scopus. Paper selection was performed following the PRISMA guidelines. Fifteen retrospective studies were identified and selected.
Results:
A total of 15 manuscripts describing 26 cases were finally included in our research. Twenty-two fetuses/newborns with suspected GALD were studied, of which 11 had a confirmed histopathological diagnosis of GALD. Prenatal diagnosis of gestational alloimmune liver disease is difficult because ultrasound findings may be absent or nonspecific. Only one case report described fetal hydrops similar to our clinical case. As highlighted by the current case, in fetuses presenting with hydrops, once the most common etiologies have been excluded, hepatobiliary complications and liver failure caused by GALD should be considered.
Conclusions:
Global knowledge of this disorder and its wide spectrum of presentations may help to increase the number of cases that are diagnosed early and accurately. The recurrence rate of an infant being affected with GALD in another pregnancy is more that 90%. Recurrence however can be prevented by treatment with IVIG during pregnancy. This highlights the importance of having obstetricians and pediatricians familiar with gestational alloimmune liver disease.
Acute keratoconus-like hydrops after laser in situ keratomileusis
Authors: Carsten H Meyer, Stefan Mennel, Jörg C Schmidt
Journal: J Ophthalmol (2009)
MeSH terms: Case Reports

Purpose. To demonstrate keratoconus-like hydrops after laser in situ keratomileusis (LASIK) by optical coherence tomography (OCT). Patient and Methods. A 21-year-old man received uneventful bilateral LASIK. On slit lamp examination or corneal topography there were no signs of fruste keratoconus. The preoperative corneal thickness was 587-mum OD and the calculated ablation for two treatments was 114-mum. Uneventful LASIK with an optical zone of 7 mm and an ablation of 89-mum OD, and an ablation of 73-mum OS was performed. Three years postoperatively, he complained about progressive myopia and impaired vision OD. His VA was hand motion OD and 20/20 OS. Results. OCT and light microscopy revealed an anterior corneal steepening and acute keratoconus-like excessive edematous swelling. Conclusion. The cornea is mechanically weakened after LASIK by the lamellar cut and tissue subtraction. Although the advocated minimal residual stromal bed thickness is 250-mum, it may not be adequate to prevent progressive keratoconus-like hydrops in the selected cases.
Case report: A rare case of anomalous origin of the left coronary artery from the pulmonary artery accompanied with unilateral absence of pulmonary artery in an adult patient
Authors: Dong Yi, Juan Xia, Xiang Zhou, Chengwei Liu, Li Liu, Hua Yan, Xiaojing Ma
Journal: Front Cardiovasc Med (2023)
Keywords: anomalous origin, coronary angiography, echocardiography, left coronary artery, multidetector computed tomographic angiogram, pulmonary artery
MeSH terms: Case Reports

Both the anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) and unilateral absence of the pulmonary artery (UAPA) are rare congenital malformations, ALCAPA accompanied with UAPA is extremely rare. Here, we reported a middle-aged man admitted to our department for evaluation of chest pain during exercise. Physical examination and lab tests did not unveil obvious abnormality; however, transthoracic echocardiogram (TTE) revealed multivessel myocardial collateral blood flow signals in the left ventricular wall and ventricular septum, a shunting flow from the left coronary artery into the pulmonary artery and dilated right coronary artery (RCA), which supported but did not confirm the diagnosis of ALCAPA. Coronary angiography (CAG) showed an absent left coronary ostium and a dilated RCA, with extensive collaterals supplying the left coronary system. Multidetector computed tomography angiography (MDCTA) was then performed and revealed the anomalous origin of the left main coronary artery (LMCA) arising from the pulmonary artery, and it incidentally unveiled another rare congenital malformation of UAPA. The patient underwent surgical correction of ALCAPA by reimplantation of the LMCA to the aorta, without surgical treatment of UAPA. The patient had been in good clinical condition and remained angina free with good exercise tolerance during follow-up (∼6 months so far). In this case, we discussed the diagnostic value of TTE, CAG, and MDCTA on rare abnormalities as ALCAPA and UAPA. We highlighted the role of multiple non-invasive imaging modalities in diagnosing rare causes of angina in adult patients, and the importance of careful examination in avoiding misdiagnosis. To our best knowledge, this is the first report of ALCAPA accompanied with UAPA in an adult patient.
Acute Awake Fiberoptic Intubation in the ICU in a Patient with Limited Mouth Opening and Hypoxemic Acute Respiratory Failure
Authors: Kjartan E Hannig, Rasmus W Hauritz, Christian Jessen, Anders M Grejs
Journal: Case Rep Anesthesiol (2019)
MeSH terms: Case Reports

The incidence and survival of patients with head-and-neck cancer have been on the increase for decades. Following surgery or radiation therapy, complications such as difficult airways may evolve. These difficult airways may be unique and not manageable with conventional intubation methods as well as video laryngoscopes. Acute awake fiberoptic intubation may be a feasible option also for urgent emergency airway management of known difficult airways. The "cannot intubate-cannot oxygenate" (CI-CO) situation has to be avoided at all costs, since emergency cricothyrotomy has a fail ratio of more than 50% when performed by an anesthesiologist.
The determinants of premature birth during the year 2018 at the General Reference Hospital of Malemba in the Democratic Republic of Congo
Authors: Fiston Ilunga Mbayo, Yannick Bienge Nsenga, Gloire Kasongo Lupitshi, Kennedy Twite Nyemba, Cédrick Mwamba Mpingisha, Justin Batambe Kambala, Gaetan Kabongo Muzinga
Journal: Pan Afr Med J (2020)
Keywords: malemba, premature delivery, determinants
MeSH terms: Pregnancy Complications / epidemiology, Premature Birth / epidemiology, Case Reports, Adolescent, Adult, Cross-Sectional Studies, Democratic Republic of the Congo, Female, Humans, Infant, Newborn, Infant, Premature, Malaria / complications, Malaria / epidemiology, Maternal Age, Middle Aged, Pregnancy, Pregnancy Complications / physiopathology, Risk Factors, Urinary Tract Infections / complications, Urinary Tract Infections / epidemiology, Young Adult

Premature birth remains a major concern for obstetric and pediatric teams. The objective of our work is to determine the causes and frequencies of premature childbirth in our environment, more particularly at the HGR Malemba. This is a descriptive cross-sectional study conducted in the obstetrics and gynecology department of the HGR Malemba. Who included 24 premature deliveries between 1st January and 31st December 2018. The hospital frequency of preterm birth was 4.6%, the average age of childbirth was 28 ± 6.7 years, married births were 75%, housewives were 45.8%, the women born were large multiparous in 41.7%, the pathologies occurring during pregnancy: urinary tract infections (75%); malaria (25%), maternal age <18 years or >35 years and urinary tract infections constitute important risk factors for preterm birth. The study we conducted shows that the rate of premature delivery remains high in the city of Malemba. The early identification of the cause allows their reduction through the improvement of the health care system in our environment.
Case Report: Niraparib as Maintenance Therapy in A Patient With Ovarian Carcinosarcoma
Authors: Jie Qing Zhang, Bing Bing Zhao, Mao Mao Wang, Li Li
Journal: Front Oncol (2021)
Keywords: case report, gynecologic oncology, maintenance therapy, niraparib, ovarian carcinosarcoma
MeSH terms: Case Reports

Ovarian carcinosarcoma (OCS) is a rare, highly aggressive and rapidly progressing malignant tumor with an extremely poor prognosis. So far, due to the low incidence of OCS, there are no large-scale prospective studies exploring the standard care of OCS patients. There is no uniform and effective treatment for OCS. Within the development of precision medicine, targeted therapies (such as PARP inhibitors) have been widely used in epithelial ovarian cancer and various other solid tumors. Here, we report a BRCAwt patient with advanced OCS who experienced a second and a third cytoreductive surgery in June 2017 and October 2019 and has been on niraparib maintenance therapy for more than 20 months after receiving second-line and third-line chemotherapy.
Skeletal Muscle Haemangioma: A Cause for Chronic Pain about the Knee: A Case Report
Authors: Kopuri Ravi Kiran, T V Suresh Babu, S Suresh Babu, K Deepti
Journal: Case Rep Orthop (2012)

Skeletal muscle haemangiomas are uncommon soft tissue tumors; more than 90% are misdiagnosed initially. They present as chronic pain and swelling in a muscle with or without a history of trauma. Plain X-rays, bone scans, computerized tomography (CT) studies, and angiography studies may not always be specific for this tumor. Diagnostic ultrasound is an appropriate initial imaging modality for suspected haemangioma, although magnetic resonance imaging is the investigation of choice. Many treatment modalities for the symptomatic haemangiomas are available of which surgical excision is the most preferred. We present an unusual case of pain, swelling, and restriction of movements in the right knee following an episode of trauma in a 12-year-old boy who was being followed for 1 year by a general practioner and later referred to us. The patient was diagnosed to have intramuscular cavernous haemangioma in the vastus medialis by us for which he was treated by surgical excision and followed for 1 year and found to have no recurrence. The clinical features, radiological picture, pathological histology, diagnostic tools, and treatment options have been discussed.