OpenMed/multicare-articles huggingface dataset:
Doege-Potter syndrome presenting with hypoinsulinemic hypoglycemia in a patient with a malignant extrapleural solitary fibrous tumor: a case report
Authors: Robert C Schutt, Trish A Gordon, Ruchi Bhabhra, Helen P Cathro, Stephen L Cook, Christopher R McCartney, Geoffrey R Weiss
Journal: J Med Case Rep (2013)

Introduction:
Doege-Potter syndrome is a paraneoplastic syndrome characterized by non-islet cell tumor hypoglycemia secondary to a solitary fibrous tumor. This tumor causes hypoglycemia by the secretion of a prohormone form of insulin-like growth factor II. We describe the diagnosis and management of Doege-Potter syndrome and the use of transarterial chemoembolization in a patient with a malignant extrapleural solitary fibrous tumor.
Case presentation:
Our patient was a 64-year-old Caucasian woman who initially presented with urinary incontinence and was found to have a 14.5×9.0×9.0cm retroperitoneal solitary fibrous tumor compressing her bladder. Her tumor was surgically resected but recurred with multiple hepatic metastatic lesions. The hepatic metastases progressed despite systemic chemotherapy and treatment with doxorubicin transarterial chemoembolization. Her course was complicated by the development of recurrent fasting hypoglycemia, most likely secondary to Doege-Potter syndrome. Her hypoglycemia was managed with corticosteroid therapy and frequent scheduled nutrient intake overnight.
Conclusions:
The rarity of hepatic solitary fibrous tumors and consequent lack of controlled trials make this report significant in that it describes the diagnostic approach to Doege-Potter syndrome, describes our experience with the use of doxorubicin transarterial chemoembolization, and presents management options for tumor-associated hypoglycemia in the case of extensive disease not amenable to surgical resection.
Case Report: Reversal of Long-Standing Refractory Diffuse Non-Scarring Alopecia Due to Systemic Lupus Erythematosus Following Treatment With Tofacitinib
Authors: Yu-Lan Chen, Li-Xiong Liu, Qin Huang, Xue-Ying Li, Xiao-Ping Hong, Dong-Zhou Liu
Journal: Front Immunol (2021)
Keywords: janus kinase inhibitor, diffuse non-scarring alopecia, hair regrowth, systemic lupus erythematosus, tofacitinib
MeSH terms: Alopecia Areata / drug therapy, Alopecia Areata / etiology, Lupus Erythematosus, Systemic / complications, Piperidines / therapeutic use, Protein Kinase Inhibitors / therapeutic use, Pyrimidines / therapeutic use, Case Reports, Research Support, Non-U.S. Gov't, Adult, Alopecia Areata / diagnosis, Chronic Disease, Female, Humans, Lupus Erythematosus, Systemic / diagnosis, Recurrence, Treatment Outcome, Piperidines, Protein Kinase Inhibitors, Pyrimidines, tofacitinib

The Janus kinases (JAKs) are intracellular tyrosine kinases involved in a broad variety of inflammatory cascades participating in the pathogenesis of systemic lupus erythematosus (SLE). Diffuse non-scarring alopecia is one of the most frequent cutaneous manifestations in SLE, resulting in devastating psychosocial consequences. Although recent studies have shown promising outcomes of the JAK inhibitors in SLE treatment, the efficacy of tofacitinib in diffuse non-scarring alopecia due to SLE has never been reported. Here we present a 29-year-old SLE patient with a 10-year history of refractory severe diffuse non-scarring alopecia who experienced dramatic hair regrowth with tofacitinib. Furthermore, we have made a systematic review regarding the potential effectiveness of tofacitinib in systemic and cutaneous lupus erythematosus. To the best of our knowledge, this is the first case study depicting an SLE patient with refractory alopecia who experienced impressive hair regrowth with the JAK1/3 inhibitor tofacitinib therapy, which contributes to expanding the field of possible uses of tofacitinib in SLE patients with difficult-to-treat cutaneous involvement, including severe alopecia.
Phlebosclerotic colitis: A case report and review of the literature
Authors: Yue-Lin Fang, Ho-Chi Hsu, Yenn-Hwei Chou, Chin-Chu Wu, Yuh-Yu Chou
Journal: Exp Ther Med (2014)
Keywords: calcifications, ischemic colitis, mesenteric phlebosclerosis, phlebosclerotic colitis

Phlebosclerotic colitis (PC) is a rare but potentially life-threatening disease. The initial presentation may include non-specific symptoms, such as vomiting, constipation and abdominal pain; however, intestinal stenosis, gangrene and perforation may occur without appropriate management. The present report describes the case of a 56-year-old male with abdominal pain and constipation. Imaging studies revealed thread-like calcifications involving almost the entire colon, which had markedly progressed over a three-year period, and changes consistent with colonic ischemia. Angiography revealed decreased blood flow in the mesenteric veins. The patient underwent emergent subtotal colectomy, and pathological examination revealed gangrene of the colon and calcifications of the mesenteric veins. The patient's postoperative course was uneventful. In conclusion, PC is a potentially life-threatening condition that may be diagnosed by the presence of serpentine calcifications on imaging studies. Management depends on the severity of the disease, ranging from close follow-up to prompt surgical intervention.
Chylopericardium due to Subclavian Vein Thrombosis in the Setting of Protein S Deficiency
Authors: Ian Jackson, Yaman Alali, Abedel Rahman Anani, Ali Nayfeh, Arindam Sharma, Abhishek Thandra, Amjad Kabach
Journal: Case Rep Cardiol (2021)
MeSH terms: Case Reports

Background:
Chylopericardium is the accumulation of lymphatic fluid in the pericardial cavity. It can be idiopathic or secondary to trauma, cardiothoracic surgery, neoplasm, radiation, tuberculosis, lymphatic duct dysfunction, thrombosis, or other causes. We present a case of chylopericardium due to subclavian vein thrombosis in a patient with protein S deficiency. Clinical Case. A 48-year-old man with a history of protein S deficiency presented to the emergency department with shortness of breath and a productive cough. CT of the chest showed pulmonary emboli, moderate pericardial effusion, and a large thrombus of the superior vena cava, brachiocephalic vein, and subclavian veins. He developed echocardiographic evidence of cardiac tamponade so he underwent pericardiocentesis with drainage of milky-appearing fluid. Analysis of the fluid showed elevated triglycerides consistent with chylopericardium. The pericardial effusion reaccumulated, likely secondary to lymphatic duct obstruction due to his subclavian vein thrombus. Catheter-assisted thrombolysis was performed with resolution of the patient's effusion and symptoms.
Conclusion:
Chylopericardium is a rare but important complication of subclavian vein thrombosis. Management is typically with surgical intervention, although our case represents successful treatment with catheter-assisted thrombolysis.
Potential influence of parental copy number variations on noninvasive prenatal testing (NIPT): two case reports
Authors: Yiming Qi, Jiexia Yang, Yaping Hou, Rong Hu, Dongmei Wang, Haishan Peng, Aihua Yin
Journal: Mol Cytogenet (2020)
MeSH terms: Case Reports

Background:
Small subchromosomal deletions and duplications caused by copy number variants (CNVs) can now be detected with noninvasive prenatal testing (NIPT) technology. However, the clinical utility and validity of this screening for CNVs are still unknown. Here, we discuss some special conditions in which both cases simultaneously exhibited false positives caused by maternal CNVs and false negatives due to limitations of the technology.
Case presentation:
In case 1, NIPT indicated a 1.1 Mb deletion at 21q21.1, but the umbilical cord for array CGH (aCGH) revealed a 422 kb deletion at 15q13.3. Peripheral blood of the parents for aCGH showed a 1.1 Mb deletion at 21q21.1 in the mother's sample, and the same deletion at 15q13.3 was detected in the father's blood. In case 2, NIPT showed a 1.5 Mb deletion at 22q11.21, but aCGH of amniocytes revealed a 1.377 Mb duplication rather than a 1.5 Mb deletion at 22q11.21. Furthermore, aCGH analysis of the parental blood revealed a 647 kb deletion at 22q11.21 in the mother and a 2.8 Mb duplication of 22q11.21 in the father.
Conclusions:
Our findings not only highlight the significance of diagnostic testing following a positive cfDNA sequencing result but also the necessity for additional analytical and clinical validation before routine use in practice.
A case of multisystem inflammatory syndrome in an African adolescent male: case report
Authors: Pramodhini Moodley, Jacob Merika Letlhoo Tsitsi, Denasha Lavanya Reddy, Mohith Debising, Claudia Ickinger
Journal: Pan Afr Med J (2021)
Keywords: african, multisystem inflammatory syndrome, sars-cov-2, case report, children
MeSH terms: COVID-19 / diagnosis, Shock, Cardiogenic / diagnosis, Systemic Inflammatory Response Syndrome / diagnosis, Case Reports, Adolescent, Africa South of the Sahara, COVID-19 / physiopathology, COVID-19 / therapy, Humans, Immunoglobulins, Intravenous / administration & dosage, Male, Shock, Cardiogenic / virology, Steroids / administration & dosage, Systemic Inflammatory Response Syndrome / physiopathology, Systemic Inflammatory Response Syndrome / therapy, Immunoglobulins, Intravenous, Steroids, pediatric multisystem inflammatory disease, COVID-19 related

Since late April 2020, a syndrome now termed Multisystem Inflammatory Syndrome in Children (MIS-C) has been seen in children and adolescents in association with COVID-19 infection. The definition of MIS-C involves fever, organ dysfunction and laboratory confirmation of inflammation in the context of laboratory or epidemiological evidence of SARS-CoV-2 infection in a patient under 21 years of age. Notably, cases are now being identified in adults termed Multisystem Inflammatory syndrome in Adults (MIS-A). Few cases have been reported in sub-Saharan Africa. We report a case of a young African male presenting with a maculopapular rash, persistent fever, elevation in inflammatory markers and a sudden, significant deterioration in cardiac function resulting in cardiogenic shock. The patient responded to intravenous steroids, intravenous immunoglobulin and background inotropic support. The recognition of this disease entity proves even more crucial now amidst the ongoing global wave of COVID-19 infection. It is paramount to identify these patients early, leading to prompt treatment avoiding further morbidity and mortality.
Pure Testicular Seminoma Relapsing Late with Somatic Type Malignancy
Authors: Klaus-Peter Dieckmann, Petra Anheuser, Ralf Gehrckens, Waldemar Wilczak, Guido Sauter, Doris Höflmayer
Journal: Case Rep Oncol Med (2017)
MeSH terms: Case Reports

Background. Somatic type malignancy (STM) occurs in 2% of all germ cell tumours (GCTs). The prognosis is unfavourable and the origin is poorly understood. Pathogenetic hypotheses involve direct transformation of teratoma, origin from totipotent cancer cells, or derivation from yolk sac tumour elements. Case Presentation. A 31-year-old patient was cured from testicular seminoma clinical stage IIc by orchiectomy and cisplatin-based chemotherapy. Nine years later, he experienced a late relapse with a mass sized 5 × 6 cm located at the former metastatic site. As no remission occurred after chemotherapy with three cycles of cisplatin, ifosfamide and etoposide, the mass was surgically resected. Histologically, the specimen consisted of neurofibroma with areas of malignant peripheral nerve sheath tumour and spots with mature bone formation. FISH analysis disclosed isochromosome 12p in the majority of evaluated cells suggesting somatic type malignancy (STM) of GCT. The patient is well 1 year after surgery. Conclusion. The pathogenesis of this STM remains enigmatic. The origin from GCT was evidenced by documentation of isochromosome 12p. Unrecognized teratomatous elements in the primary and totipotent cancer cells surviving the first chemotherapy could be hypothesized to represent the origin. STM developing from seminoma cells would be another novel hypothesis.
Integrated population modelling reveals potential drivers of demography from partially aligned data: a case study of snowy plover declines under human stressors
Authors: Qing Zhao, Kristen Heath-Acre, Daniel Collins, Warren Conway, Mitch D Weegman
Journal: PeerJ (2021)
Keywords: climate change, conservation, data integration, demography, human stressor, imbalanced sampling, population monitoring, wetland

Knowledge of demography is essential for understanding wildlife population dynamics and developing appropriate conservation plans. However, population survey and demographic data (e.g., capture-recapture) are not always aligned in space and time, hindering our ability to robustly estimate population size and demographic processes. Integrated population models (IPMs) can provide inference for population dynamics with poorly aligned but jointly analysed population and demographic data. In this study, we used an IPM to analyse partially aligned population and demographic data of a migratory shorebird species, the snowy plover (Charadrius nivosus). Snowy plover populations have declined dramatically during the last two decades, yet the demographic mechanisms and environmental drivers of these declines remain poorly understood, hindering development of appropriate conservation strategies. We analysed 21 years (1998-2018) of partially aligned population survey, nest survey, and capture-recapture-resight data in three snowy plover populations (i.e., Texas, New Mexico, Oklahoma) in the Southern Great Plains of the US. By using IPMs we aimed to achieve better precision while evaluating the effects of wetland habitat and climatic factors (minimum temperature, wind speed) on snowy plover demography. Our IPM provided reasonable precision for productivity measures even with missing data, but population and survival estimates had greater uncertainty in years without corresponding data. Our model also uncovered the complex relationships between wetland habitat, climate, and demography with reasonable precision. Wetland habitat had positive effects on snowy plover productivity (i.e., clutch size and clutch fate), indicating the importance of protecting wetland habitat under climate change and other human stressors for the conservation of this species. We also found a positive effect of minimum temperature on snowy plover productivity, indicating potential benefits of warmth during night on their population. Based on our results, we suggest prioritizing population and capture-recapture surveys for understanding population dynamics and underlying demographic processes when data collection is limited by time and/or financial resources. Our modelling approach can be used to allocate limited conservation resources for evidence-based decision-making.
Isolated kaposi sarcoma of the tonsil: a case report and review of the scientific literature
Authors: Barbara Pittore, Carlo Loris Pelagatti, Francesco Deiana, Francesco Ortu, Elena Maricosu, Sergio Cossu, Giovanni Sotgiu
Journal: Case Rep Otolaryngol (2015)

Kaposi sarcoma is a tumour caused by human herpes virus 8, also known as Kaposi sarcoma-associated herpes virus. It usually affects the skin and oral mucosa; however, it can also sometimes affect the lungs, the liver, the stomach, the bowel, and lymph nodes. Several body sites may be affected simultaneously. The involvement of the tonsils is rare. We described an isolated localization of Kaposi's sarcoma of the right tonsil in a HIV-positive patient.
Differential Diagnosis of Parotid Lipoma in a Breast Ca Patient
Authors: Melda Misirlioglu, Yagmur Yilmaz Akyil, Mehmet Zahit Adisen, Alime Okkesim
Journal: Case Rep Dent (2017)
MeSH terms: Case Reports

Lipomas are common benign tumors usually detected on the torso, neck, upper thighs, and upper arms. However, they are rarely found in the parotid gland region. Because of their rarity at this site, they are not often considered in the differential diagnosis of parotid tumors. This report describes a rare case of a lipoma in the superficial lobe of parotid gland. A 71-year-old female patient admitted to our department complaining about swelling and pain in the posterior area of the left mandibular region since one month. Her medical history included mastectomy after breast CA fifteen years ago. Clinical examination revealed a smooth-surfaced, soft, and painful mass, with well-defined margins in the left mandibular region. Differential diagnosis of metastasis, inflammatory neck swellings, and benign salivary gland tumors were considered for the patient. Advanced imaging methods such as ultrasonography and contrast tomography revealed that the lesion was a lipoma of parotid gland. A surgical intervention under general anesthesia was planned for the removal of the mass; however patient refused the surgical treatment. Patient was placed on six-month periodic recall. This article reviews the radiographic appearance and differential diagnoses of lipoma in this rare location.
Type 1 neovascularization with polypoidal lesions complicating dome shaped macula
Authors: Jonathan Naysan, Kunal K Dansingani, Chandrakumar Balaratnasingam, K Bailey Freund
Journal: Int J Retina Vitreous (2015)
Keywords: dome-shaped macula, high myopia, imaging, neovascularization, polypoidal, polypoidal choroidal neovascularization, polypoidal choroidal vasculopathy
MeSH terms: Case Reports

Dome-shaped macula is described as an inward bulge of the macula within a posterior staphyloma in highly myopic eyes. Choroidal neovascularization is a known complication that can cause visual loss in dome-shaped macula. Herein, we describe a patient who presented with features of polypoidal choroidal neovascularization that developed on a background of high myopia with dome-shaped macula.
Prenatal Genetic Counseling in a Chinese Pregnant Woman With Rare Thalassemia: A Case Report
Authors: Liangying Zhong, Ye Wang, Wenbin Lin, Zhenrong Yao, Jiang Zhang, Hongxu Xu, Pinning Feng, Lijuan Xu
Journal: Front Genet (2021)
Keywords: hbj-bangkok, ivs-ii-806(g>c), case report, deep intronic variant, thalassemia
MeSH terms: Case Reports

Background: Prenatal genetic counseling can be difficult, especially when it is related to fetuses with a rare thalassemia. An intronic variant located far from obvious regulatory sequences in the HBB gene could be very difficult to evaluate as it may affect the mRNA processing or cause β-thalassemia (β-thal). In the present study, a Chinese pregnant woman with HbJ-Bangkok and a very rare change in the second intron of the HBB gene [IVS-II-806(G>C), NM_000518.4, HBB: c.316-45G>C] in combination with α+-thalassemia was reported, which can assist in prenatal genetic counseling. Case Report: A 26-year-old pregnant woman presented at the obstetric clinic for a routine pregnancy check at 12 weeks of gestation. Red blood counts and high-performance liquid chromatography (HPLC) were consistent with clinical manifestations of anemia. Multiplex gap-polymerase chain (gap-PCR) displayed rightward deletion (-α3.7/αα). Direct DNA sequencing of the δ-globin gene showed no mutation. Sanger sequencing of the β-globin gene showed a previously undescribed condition of double heterozygosity for HbJ-Bangkok and a very rare change in the second intron of the HBB gene [IVS-II-806(G>C), NM_000518.4, HBB: c.316-45G>C] that has not been previously reported in the HbVar database. Thus, a rare combination of α+-thal and a compound heterozygosity of HbJ-Bangkok and [IVS-II-806(G>C)] with α+-thal (-α3.7/αα) was finally diagnosed. Prenatal genetic counseling was made based on the genotype and phenotype analyses. Conclusion: This study enlarges the mutation spectrum of β-globin gene and emphasizes DNA analysis in resolving unusual patterns in Hb analysis and the importance of sharing the observed rare undefined mutations and the possible interactions with known molecular defects, which can assist in prenatal genetic counseling.
Renal trauma: case reports and overview
Authors: Campbell D Tait, B K Somani
Journal: Case Rep Urol (2012)

Introduction. Renal trauma patients are largely managed conservatively but on occasion have to be embolised or taken to theatre for definitive surgical management, usually in the form of emergency nephrectomy. Review. We present an overview of renal trauma as illustrated by three interesting cases of blunt renal trauma who presented in quick succession of each other to the Emergency Department. The first case-a 48-year-old-female passenger in a road traffic accident-was treated with life-saving emergency nephrectomy. The second patient-a 47-year-old man who sustained a high impact injury whilst sledging-was managed conservatively on HDU and subsequently on the urology ward. The third patient-an 18-year-old man involved in a road traffic accident-underwent selective embolisation of a pseudoaneurysm after conservative therapy. Discussion. This case series illustrates the surgical, radiological, and conservative approaches to the management of significant renal trauma, which is potentially life threatening.
Successful Treatment of Myasthenia Gravis Following PD-1/CTLA-4 Combination Checkpoint Blockade in a Patient With Metastatic Melanoma
Authors: Jan-Michael Werner, Viola Schweinsberg, Michael Schroeter, Boris von Reutern, Michael P Malter, Max Schlaak, Gereon R Fink, Cornelia Mauch, Norbert Galldiks
Journal: Front Oncol (2019)
Keywords: checkpoint inhibitor, immunotherapy, ipilimumab, myasthenic crisis, neuro-oncology, nivolumab
MeSH terms: Case Reports

Currently, the blockade of certain immune checkpoints such as the cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) and programmed cell death-1 (PD-1) using checkpoint inhibitors is standard of care in patients with metastatic melanoma, especially with BRAF wild-type. However, several checkpoint inhibitor-related complications have been reported, including severe adverse events in the central and peripheral nervous system. In particular, in the recent past, the occurrence of myasthenia gravis following checkpoint inhibitor monotherapy, particularly nivolumab or ipilimumab, has been reported. In contrast, reports on PD-1/CTLA-4 combination blockade-usually with fatal clinical outcome-are scarce. We here report a case with combination immune checkpoint blockade-related myasthenia gravis with favorable clinical outcome.
Superselective Embolization with Microcoil and Gelfoam for High-Flow Priapism Secondary to Bilateral Cavernous Fistulae: A Case Study
Authors: Sarah Prattley, Timothy Bryant, Rowland Rees
Journal: Case Rep Urol (2019)
MeSH terms: Case Reports

Background:
High-flow priapism is rare, and bilateral arteriocavernous fistulae formation following trauma is rarer still. Management of high-flow priapism is conservative either through observation, use of ice packs, mechanical decompression, or intracavernosal injection of α-adrenergic agonists, giving temporary results in selected cases. Alternatively, superselective arteriography with embolization is widely accepted. However, intervention needs to be mindful of the potential impact on long-term potency. We report the first case of bilateral arteriocavernous fistulae managed with both Gelfoam and microcoil embolization.
Case study:
We present the case of a 35-year-old gentleman who attended the emergency department nine days following a fall from a moped, where he sustained bruising to his perineum, with persistent nonpainful erection. CT angiogram demonstrated bilateral arteriovenous fistulas. Management with superselective catheterisation and embolization with Gelfoam and microcoil was successful with resolution of symptoms. Long-term follow-up has shown return to normal erectile function twelve months following the injury.
Outcomes:
Concern regarding the effect to long-term erectile function has previously led to delayed bilateral embolization. Selection of embolization material can be tailored to the anatomical features of the fistula to help preserve function.