OpenMed/multicare-articles huggingface dataset:
Hematuria as an Early Sign of Multisystem Inflammatory Syndrome in Children: A Case Report of a Boy With Multiple Comorbidities and Review of Literature
Authors: Ana Generalić, Maša Davidović, Ivanka Kos, Kristina Vrljičak, Lovro Lamot
Journal: Front Pediatr (2021)
Keywords: kawasaki disease, sars-cov-2, hematuria, kidney, multisystem inflammatory syndrome in children (mis-c)
MeSH terms: Case Reports

Introduction: While the clinical course of SARS-CoV-2 infection seems to be milder or asymptomatic within the pediatric population, growing attention has been laid to the rare complication elicited by virus, multisystem inflammatory syndrome in children temporarily associated with COVID-19 (MIS-C). Published definition and criteria of MIS-C include persistent fever, multisystem involvement, and elevated markers of inflammation, without obvious microbial inflammation or other plausible diagnosis. However, the aim of this case report is to emphasize the diversity of symptoms of MIS-C, beyond the defined criteria. Case Presentation: We present a 10-year-old boy with 8p23.1 microdeletion syndrome and multiple comorbidities who initially came to our attention due to hematuria, persistent fever, rash, and elevated markers of inflammation. Within the next 2 days, his condition worsened despite the broad-spectrum antibiotic therapy. Assuming his past history of SARS-CoV-2 exposure, MIS-C was suspected. A high level of clinical suspicion was further supported by significant clinical features (vomiting, abdominal pain, conjunctivitis, arrhythmia, and mild left ventricular systolic dysfunction with pleural effusion) along with laboratory findings (elevated ESR, CRP, proBNP, D-dimers and fibrinogen, positive IgG SARS-CoV-2 antibodies, and negative microbiological cultures). The patient was given intravenous immunoglobulin (IVIG) and began to show instantaneous clinical and laboratory improvement. Conclusion: Despite numerous reports of MIS-C cases in children, there are still many uncertainties regarding the clinical presentation and laboratory findings, as well as mechanisms beyond this intriguing disorder. In our case, for the first time hematuria is reported as an early symptom of MIS-C. We strongly believe that reporting various manifestations and outcomes in MIS-C patients will lead to improved diagnosis, treatment, and overall understanding of this novel inflammatory condition.
Case Report: A novel desmoplakin mutation in a taiwanese woman with familial dilated cardiomyopathy that necessitated heart transplantation
Authors: Yi-Han Chang, Pei Lin, Jia-Ling Lin, Hsin-Yu Huang, Chao-Kai Hsu, Chih-Hsin Hsu
Journal: Front Genet (2022)
Keywords: desmoplakin gene (dsp), dilated cardiomyopathy (dcm), familial dilated cardiomyopathy (fdc), heart transplantation (htx), whole exome sequencing
MeSH terms: Case Reports

Around one-third of patients diagnosed with idiopathic dilated cardiomyopathy (DCM) turn out to be familial cases, in only a few of which the identification of a pathogenic/likely pathogenic variant could be achieved. Cardiomyopathy caused by desmoplakin gene mutations represents a distinct form with a high prevalence of left ventricle involvement. We report a novel desmoplakin mutation carried by two individuals in a Taiwanese family, in which the proband recovered well after heart transplantation and under medical control, while her son had received an implantable cardioverter defibrillator and has been under guideline-directed medical therapy. The present study broadens the genetic spectrum of this disease entity and strengthens the notion that a detailed family history with genetic study contributes to the early detection and treatment of inherited diseases.
Bilateral sterile subdural effusion in Kawasaki disease-A case report
Authors: Corina Ramona Nicolescu, Marie Duperril, Jean-Louis Stephan
Journal: Front Pediatr (2022)
Keywords: kawasaki disease, aseptic meningitis, inflammation, medium vessel vasculitis, subdural collection
MeSH terms: Case Reports

Kawasaki disease is an acute febrile condition that causes a self-limiting medium vessel systemic vasculitis and whose pathophysiological pathways are still not completely understood. Coronary arteries are the most affected, but inflammation can develop in all medium-sized arteries, with various organs and tissues being involved. Kawasaki disease-related neurological involvement varies in terms of clinical expression and severity. Herein, we describe an unusual neurological complication of Kawasaki disease in a 5-year-old girl. The progression of the disease was biphasic. Kawasaki disease was diagnosed on the 8th day after symptoms onset and treated by intravenous immunoglobulins, with prompt clinical regression but a less favorable biological response (persistent inflammation with hypoalbuminemia). Two weeks later, headaches and lethargy developed, and a bilateral subdural collection was identified on cerebral imaging. Subsequently, her progress was uneventful, with no residual coronary abnormalities and complete resorption of the subdural collection. Bilateral subdural collection, exceptionally reported, could be discussed as a clinical expression of systemic inflammatory vasculitis that characterizes Kawasaki disease.
Case Report: Adaptive radiotherapy in the radiation salvage of prostate cancer
Authors: Steven K Montalvo, Boyu Meng, Mu-Han Lin, Chunjoo Park, Neil B Desai, Raquibul Hannan, Aurelie Garant
Journal: Front Oncol (2022)
Keywords: mr-guided, ablative, adaptive, prostate, radiation, salvage, stereotactic
MeSH terms: Case Reports

Adaptive radiotherapy has the potential to reduce margins, improve target coverage, and decrease toxicity to organs at risk (OARs) by optimizing radiation delivery to daily anatomic changes. Salvage for locally recurrent prostate cancer after definitive radiation remains a challenging clinical scenario given the risks to normal tissue in a setting of re-irradiation. Here, we present a case series of five patients with locally recurrent prostate cancer treated with an adaptive online linear accelerator or a 3-T MR-based linear accelerator to demonstrate excellent target coverage. All patients completed the planned treatment course with acceptable acute toxicities but a short follow-up time does not inform subacute/late toxicities.
Anterior hip dislocation in a football player: a case report
Authors: Alexander Schuh, Sylvia Doleschal, Thomas Schmickal
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

Hip dislocations during sporting activities represent only 2%-5% of all hip dislocations. Most hip dislocations in sports can be categorised as "less complicated traumatic hip dislocations" by the Stewart-Milford classification due to the fact that minimal force is involved. The incidence of avascular necrosis of the femoral head greatly increases if the time to reduction is more than six hours. We report the case of a 38-year-old football player who suffered hip dislocation while kicking the ball with the medial aspect of the right foot in an external rotated manner of the right hip. Closed reduction was performed within 2 hours; postoperative follow-up was uneventful. Six months later the patient is out of any complaints; there is no sign of AVN of the femoral head.
Pembrolizumab Plus Chemotherapy in Metastatic Thymic Carcinoma: A Case Report
Authors: Quentin Dominique Thomas, Clémence Basse, Marie Luporsi, Nicolas Girard
Journal: Front Oncol (2022)
Keywords: case report, immune checkpoint inhibitor (ici), immunotherapy, therapeutic option, thoracic malignancies, thymic epithelial tumor (tet)
MeSH terms: Case Reports

Metastatic thymic carcinomas have a poor prognosis. Pembrolizumab, an anti-PD-1 antibody, has recently been evaluated for patients with metastatic thymic carcinomas progressing after at least one line of platinum-based chemotherapy. The antitumor activity of immunotherapy appears to be promising for these patients and pembrolizumab in monotherapy is actually a treatment option in second metastatic line. To the best of our knowledge, we report the first case of a patient treated for metastatic thymic adenocarcinoma with a combination of chemotherapy-immunotherapy. The patient is a 46-year-old man with metastatic thymic adenocarcinoma treated in third metastatic line with a combination of pembrolizumab plus platinum-based chemotherapy with a very good metabolic tumor response. He had a progression-free survival of 7.9 months and did not experience any severe side effects related to pembrolizumab. The association of immunotherapy and chemotherapy, as in non-small cell and small cell lung cancers, could be of interest for future therapeutic trials evaluating the survival of patients with metastatic thymic carcinoma.
Failure of Passive Transfer in Camel Calves: 4 Cases (2010-2019)
Authors: Amanda James, Joe Smith, Julie Sheldon, Ricardo Videla
Journal: Case Rep Vet Med (2022)
MeSH terms: Case Reports

Failure of passive transfer is a management concern for all ruminant species, but is not well described in the literature for camel calves. This case series presents four camel calves (Camelus dromedarius and Camelus bactrianus) referred to a North American veterinary teaching hospital for diagnosis and management of failure of passive transfer. Diagnostics utilized included hematology, serum biochemistry, and immunologic methods as described for crias. Management included antimicrobial, anti-inflammatory, and plasma transfusion therapies. Three of the four calves survived to discharge, and common diagnostic practices such as evaluation of total solids, total protein, immunoglobulin G, and sodium sulfite appear to be correlate to passive transfer status in these four calves. Xenotransfusion with llama plasma was well tolerated by two calves, and xenotransfusion with bovine plasma was well tolerated by an additional calf in this study. An additional work is necessary to develop validated breakpoints for diagnosis of passive transfer status in camel calves.
Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4
Authors: Qi Yao, Liu Wang, Bing Yao, Hongliu Gao, Weiwei Li, Xinyi Xia, Qinghua Shi, Yingxia Cui
Journal: Mol Cytogenet (2014)
Keywords: oligospermia, recombination, ring chromosome 4, synapse complex, transcriptional inactivation
MeSH terms: Case Reports

Background:
Ring chromosomes are often associated with spermatogenetic failure. However, the mechanism is poorly understood. We here reported a single man with severe oligospermia and a ring chromosome 4 with a microdeletion at 4p16.3.
Results:
Synapsis (as SCP3), recombination (as MLH1) and transcriptional inactivation (as BRCA1) in a testicular biopsy were examined by fluorescence immunostaining. In the oligospermia patient, 35.4% of spermatocytes were in zygotene phase compared with 5.2% in controls. The patient had a significantly reduced recombination frequency with mean of 45.9 MLH1 foci/cell compared with 47.8 in controls. In the patient, chromosome 4 in all pachytene cells displayed loop formation with varying degrees of unpaired regions. BRCA1 localized along asynapsed regions regardless of XY body association.
Conclusions:
Ring chromosome 4 might affect the progression of meiosis I prophase, synapse formation, and transcriptional activation of asynapsed areas, and impair male fertility.
Contrast-Enhanced Dynamic MR Imaging of Uterine Fibroids as a Potential Predictor of Patient Eligibility for MR Guided Focused Ultrasound (MRgFUS) Treatment for Symptomatic Uterine Fibroids
Authors: Sang-Wook Yoon, Chan Lee, Kyoung Ah Kim, Sang Heum Kim
Journal: Obstet Gynecol Int (2010)
MeSH terms: Case Reports

Magnetic resonance-guided focused ultrasound surgery (MRgFUS) is a non-invasive treatment approach for symptomatic uterine fibroids. One imaging characteristic considered in selecting patients who may benefit from MRgFUS of their uterine fibroids is the signal intensity of the fibroid compared with surrounding myometrium on T2-weighted MR images. Previous reports suggest that hyper-intense fibroids are less amenable to MRgFUS compared with iso- or hypo-intense fibroids. In this case study, we utilized contrast-enhanced dynamic MR imaging to further characterize the vascularity of a hyper-intense fibroid. Based on the results of dynamic T1-weighted contrast-enhanced images, we assumed that the hyper-intense appearance resulted from high fluid content rather than high vascularity and predicted that the fibroid would respond to MRgFUS. The patient underwent the MRgFUS without complication and reported significant decrease in fibroid symptoms at 3 and 12 months post-treatment. This case suggests that pre-treatment dynamic contrast-enhanced imaging used in conjunction with T2-weighted imaging may improve the criteria for selecting uterine fibroids amenable to treatment with MRgFUS, potentially leading to improved patient outcomes.
Pseudohypertension-Like Presentation: An Exceptionally Rare Presentation in an Athletic Female Patient with Morphea
Authors: Ahmed Al-Imam
Journal: Case Rep Dermatol Med (2016)
MeSH terms: Case Reports

Introduction. Pseudohypertension is a condition which mainly occurs due to thickening-calcification of tunica intima of the arterial wall, leading to a faulty measurement of the intra-arterial blood pressure. To the best of our knowledge, this is the first case report in literature, of a pseudohypertension-like presentation in association with Morphea en plaque. Case Presentation. This is a rare presentation of a young athletic female and a professional tennis player, with pseudohypertension-like presentation. The patient had a traumatic injury to the right elbow joint; the injury occurred during a professional tennis match. The injury was managed by immobilization, physiotherapy, and Low-Level Laser Therapy. Soon after that, the patient had a circumscribed sclerotic ivory plaque affecting the skin of the right cubital fossa. The histopathology analysis, together with the serological-hematological tests and the clinical picture, along with positive Osler's signs, leads to the conclusive diagnosis of Morphea en plaque. The peculiar anatomic localization of the plaque anterior to the brachial artery leads to faulty blood pressure measurement as recorded by mercurial sphygmomanometer. Conclusion. This unique presentation of Morphea en plaque carries an important message in relation to the basic medical practice and in relation to the accurate measurement of the vital signs.
Central Hypoventilation: A Case Study of Issues Associated with Travel Medicine and Respiratory Infection
Authors: Kam Lun Hon, Alexander K C Leung, Albert M C Li, Daniel K K Ng
Journal: Case Rep Pediatr (2015)

Aim. We presented the case of a child with central hypoventilation syndrome (CHS) to highlight issues that need to be considered in planning long-haul flight and problems that may arise during the flight. Case. The pediatric intensive care unit (PICU) received a child with central hypoventilation syndrome (Ondine's curse) on nocturnal ventilatory support who travelled to Hong Kong on a make-a-wish journey. He was diagnosed with central hypoventilation and had been well managed in Canada. During a long-haul aviation travel, he developed respiratory symptoms and desaturations. The child arrived in Hong Kong and his respiratory symptoms persisted. He was taken to a PICU for management. The child remained well and investigations revealed no pathogen to account for his respiratory infection. He went on with his make-a-wish journey. Conclusions. Various issues of travel medicine such as equipment, airline arrangement, in-flight ventilatory support, travel insurance, and respiratory infection are explored and discussed. This case illustrates that long-haul air travel is possible for children with respiratory compromise if anticipatory preparation is timely arranged.
Transvaginal ultrasound-guided aspiration of an anterior sacral meningocele masquerading as a hydrosalpinx, resulting in abscess formation
Authors: Susan Jawad, Vivian Ejindu, Declan Johnson, Mohammad Ali Shah, Maaz Ali Abbasi, Kamal Ojha, Nikolaos Papadakos
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Anterior sacral meningoceles (ASMs) have a recognized association with a number of connective tissue disorders, including Marfan's syndrome, neurofibromatosis Type 1 and Ehlers-Danlos syndrome. We present the case of a patient with Marfan's syndrome and ASMs who was referred to gynaecology owing to dysmenorrhoea and left-sided pelvic pain radiating to the left leg. A transvaginal ultrasound scan (TVUS) detected a left pelvic cystic tubular structure, attributed to a hydrosalpinx, which, in retrospect, likely corresponded to the ASM. The patient went on to have TVUS-guided drainage of this cystic structure, resulting in an ASM abscess. It is difficult to distinguish ASM from the vastly more common hydrosalpinx using TVUS alone, and in patients with an atypical appearing posteriorly positioned cystic pelvic lesion or in the presence of underlying conditions known to be associated with ASMs, MRI should be considered before any interventional procedure to drain the suspected hydrosalpinx transvaginally. The patient was successfully treated using a minimally invasive CT-guided posterior trans-sacral drainage technique.
A 34-Week Size Uterus with a Complete Hydatidiform Mole: Hook Effect and Severe Anemia with No Vaginal Bleeding
Authors: Rodney McLaren, Vijaya Bayya, Mohamad Irani
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Complete hydatidiform mole is an abnormal pregnancy that usually presents with vaginal bleeding and markedly elevated serum ß-hCG levels. We report a rare case of complete hydatidiform mole occurring in a 16-year-old nulligravid who presented with a 34-week size uterus and a relatively low serum ß-hCG level (722 IU/L)-likely related to the "hook effect"-and severe anemia (hemoglobin: 6.1 g/dL) despite the absence of vaginal bleeding. She also reported right flank pain and was diagnosed with moderate right hydronephrosis owing to the compression exerted by the enlarged uterus on the right ureter. The patient received a total of 6 units of packed red blood cells and was managed by dilation and evacuation followed by serial monitoring of serum ß-hCG levels. Therefore, complete mole can present with symptoms related to an enlarged uterus and severe anemia before the occurrence of vaginal bleeding. It is also important to note that a negative urine pregnancy test or relatively low serum ß-hCG level should prompt repeating the measurement on diluted sample to prevent the "hook effect."
Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome
Authors: Lorella Paparo, Giovanni Battista Rossi, Paolo Delrio, Daniela Rega, Francesca Duraturo, Raffaella Liccardo, Mario Debellis, Paola Izzo, Marina De Rosa
Journal: Hered Cancer Clin Pract (2013)
Keywords: bannayan-riley-ruvalcaba syndrome (brrs), cowden syndrome (cs), haploinsufficiency, macrocephaly, pten hamartoma tumour syndrome (phts), pten tumour suppressor gene, sporadic pheochromocytoma
MeSH terms: Case Reports

Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS) and proteus syndrome are disorders known as PTEN hamartoma tumour syndrome (PHTS), that can show remarkable clinical overlap and are all caused by germline PTEN mutations. We here present two families, one affected by CS and the other affected by BRRS, both carriers of specific pathogenetic missense mutation in exon 5 of PTEN gene, within the catalitic domain. Both PHTS families exhibited extremely variable phenotypes, showing inter- and intra- familial variability. One of the two characterised mutations, the c.320A- > T; p.107Asp- > Val, identified in the CS family, was not previously described in the literature. Furthermore, the BRRS family, carrier of the c.406 T- > C; p.136Cys- > Arg mutation, shows a substantial alteration of PTEN protein expression that well correlates with intra-familial phenotypic variability. Finally, we describe an apparently sporadic case of an 80-year-old man, with a very low level of PTEN mRNA and protein expression, both in healthy and tumour colon mucosa, associated with a very atypical phenotype. He developed a metastatic colorectal carcinoma, macrocephaly and pheochromocytoma. According to literature data, our observations confirm that PTEN mutations of catalytic domain can cause different syndromes. We suggest that PTEN expression could represent one of the mechanisms involved in the remarkable heterogeneity of the clinical PHTS manifestations within affected families. Furthermore, constitutive strong decrease of PTEN expression in colon normal mucosa could be associated with late onset of colorectal cancer.
Supraclavicular lymphadenopathy: initial manifestation of metastasis in carcinoma of cervix
Authors: Mutahir A Tunio, Mushabbab Al Asiri, Reham Mohamed, Sadeq Al-Dandan
Journal: Case Rep Obstet Gynecol (2013)

Introduction. Carcinoma of cervix rarely metastasizes to cervical lymph nodes and is associated with poor prognosis. To date, only few case reports have been reported in the medical literature. Here, we report a case of this unusual manifestation of carcinoma of cervix. Case Presentation. A 39-year-old Saudi woman who was treated three years ago for bulky IB stage carcinoma of cervix with total abdominal hysterectomy and bilateral salpingo-oophorectomy and adjuvant chemoradiation presented to us during her routine follow-up visit with left supraclavicular lymphadenopathy. Staging workup revealed additional para-aortic nodal and osseous metastases. The biopsy of left supraclavicular mass confirmed the diagnosis of carcinoma of the cervix. Patient was started on chemotherapy and bisphosphonates. Conclusion. Supraclavicular lymph nodes are a rare site of metastasis in carcinoma of cervix, and this can be explained by outlining the drainage of the lymphatic system from the cervix. Supraclavicular lymphadenopathy is associated with variable prognosis.
Rerupture of nonparasitic liver cyst treated with cyst fenestration: a case report
Authors: Kentaro Inoue, Tomohiro Iguchi, Shuhei Ito, Takefumi Ohga, Tadahiro Nozoe, Ken Shirabe, Takahiro Ezaki, Yoshihiko Maehara
Journal: Surg Case Rep (2015)
Keywords: acute abdomen, cyst fenestration, nonparasitic liver cyst rupture

We herein describe a case involving spontaneous rerupture of a nonparasitic liver cyst successfully treated with cyst fenestration and an omental flap. A 59-year-old Japanese woman was transferred to our hospital for evaluation of acute abdominal pain. She had a history of conservative treatment with antibiotics for spontaneous rupture of a liver cyst 1 month previously. On arrival, she exhibited abdominal tenderness and muscular defense. Enhanced computed tomography showed ascites and a large ruptured hepatic cyst (diameter of 10 cm). We diagnosed rerupture of a liver cyst and performed laparotomy for cyst fenestration and intraperitoneal drainage. During the operation, we found the perforation site on the ventral side of the cyst and brown, muddled ascitic fluid. Cholangiography showed no bile leakage on the inner wall. Pathological investigation revealed no evidence of malignancy. The patient recovered without any adverse events and was discharged on postoperative day 8. No recurrences or complications occurred for 2 years.