OpenMed/multicare-articles huggingface dataset:
Overlap Syndrome in a Male Presenting With Progressive Lower Limb Weakness: A Case Report
Authors: Fatema M Dubai, Ahmed Isa
Journal: Cureus (2023)
Keywords: creatine kinase, inflammatory myositis, lupus nephritis, membranous glomerulonephritis, overlap syndrome, proximal muscle weakness, rheumatology, sle, sle-myositis overlap syndrome, systemic lupus erythematosus
MeSH terms: Case Reports

Overlap syndrome refers to a large group of inflammatory rheumatic conditions characterized by the co-existence of clinical manifestations that include different organ systems and meet the criteria of more than one rheumatic disease. Overlap syndromes are less common compared with the conditions they encompass, for example, the global prevalence of systemic lupus erythematosus (SLE) is estimated to be 43.7 per 100,000 persons, of which only around 3.4-6.3% present with SLE-myositis overlap. Although rare, overlap syndromes commonly include lupus, rheumatoid arthritis, scleroderma, and myositis. Because overlap syndrome can manifest in several ways and has an unpredictable course, it poses a challenge to multidisciplinary teams that examine and treat patients. Therefore, we must not disregard any signs and symptoms as they might have a huge impact on the progression of the disease and the overall outcome of the treatment. We present a rare case of SLE-myositis overlap syndrome in a 44-year-old male. He initially presented with gradual weakness in the proximal muscles of the bilateral lower limb. This patient was diagnosed as having SLE with positive 5g protein/24 hours, anti-nuclear, low C3, anti-U1RNP, anti-Ro, and anti-La antibodies, as well as membranous lupus nephritis evident by the results of renal biopsy. The diagnosis of myositis was also made according to the history and evaluation of the patient, the high titer of muscle enzymes creatine kinase level, and MRI result. Although the patient tested positive for anti-U1RNP, he did not meet the criteria of mixed connective tissue disease. Eventually, the patient was found to have overlap syndrome. The prevalence of overlap between SLE and myositis is relatively rare and varies from 3.4% to 6.3%. To our knowledge, no study has discussed or reported its prevalence among males.
A case of veno-occlusive disease following liver transplantation
Authors: Hong Chen, Xu Wang, Tieyan Fan, Jun Li, Letian Wang, Zhongyang Shen
Journal: Exp Ther Med (2014)
Keywords: liver transplantation, tacrolimus, treatment, veno-occlusive disease

The present case report describes the diagnosis and treatment of a patient with veno-occlusive disease (VOD) following liver transplantation. Combining the clinical data and relevant literature, the study aimed to consider the causes of VOD following liver transplantation, and the pathogenesis, clinical diagnosis and auxiliary examination features of VOD. A 42-year-old man who had a long history of taking traditional Chinese medicine (essential components unknown) underwent an orthotropic liver transplantation on January 14, 2011, due to small venous occlusion disease of the liver. The patient was treated with tacrolimus as an antirejection therapy following the surgery, and gradually developed right upper quadrant pain and fatigue. The examination results were consistent with the diagnostic standards for VOD. Following treatment with methylprednisolone, the patient was treated with alprostadil and Danhong injections. Forty days later, the patient's total bilirubin (TBIL) level was observed to have decreased significantly, the liver function had returned to normal and the ascites had decreased, but had not completely disappeared. The patient then underwent a transjugular intrahepatic portosystemic shunt (TIPS) procedure, following which the ascites were shown to have completely disappeared.
Bilateral Cystic Adrenal Neuroblastoma with Cystic Liver metastasis
Authors: Mine Aslan, Deniz Alis, Ayse Ucar Kalyoncu, Hatice Arioz Habibi, Gul Nihal Ozdemir, Basak Koc, Ibrahim Adaletli
Journal: APSP J Case Rep (2017)
Keywords: bilateral congenital cystic neuroblastoma, cystic metastasis
MeSH terms: Case Reports

Bilateral congenital cystic adrenal neuroblastoma (NB) with cystic liver metastasis is a very rare condition and only few cases have been reported in the literature. Herein we report a case of a congenital bilateral cystic adrenal NB with cystic liver metastasis and briefly discuss characteristic imaging features of cystic NB.
What factors do patients consider when choosing a hand surgeon?
Authors: Monika Debkowska, Brian Lynch, Jeremy Ruskin, David Komatsu, Samuel Caradonna, Edward Wang, Samantha Muhlrad
Journal: Case Reports Plast Surg Hand Surg (2023)
Keywords: hand, demographics, office, patients, referrals, surgery
MeSH terms: Case Reports

This study evaluated what patients consider in choosing a surgeon. A survey was given to 303 patients. Most found their hand surgeon through a medical or family/friend referral (p < .05). Surgeon credentials and accepted insurance were statistically more likely to be rated first (p<.001). We recommend educating referring physicians about our practices.
A Rare Tumor in the Cervical Sympathetic Trunk: Ganglioneuroblastoma
Authors: Ozan Erol, Alper Koycu, Erdinc Aydin
Journal: Case Rep Otolaryngol (2016)

Ganglioneuroblastoma is a rare tumor with moderate malignancy, which is composed of mature ganglion cells and seen in sympathetic ganglia and adrenal medulla. The diagnosis is possible after cytological and immunohistochemical studies following a needle biopsy or surgical excision. There is no consensus regarding the need for chemo- or radiotherapy after surgery. In this case report, clinical behavior and diagnosis and treatment of the rare tumor cervical ganglioneuroblastoma were discussed.
An Unusual Case of Foreign Body Lodged in the Laryngopharynx of Neonate with Esophageal Atresia
Authors: Rahul Gupta, Manisha Saxena, Rozy Paul, Sharan Gubbi, Praveen Mathur
Journal: J Neonatal Surg (2016)
Keywords: esophageal atresia, foreign body, laryngopharynx, neonate, red rubber catheter
MeSH terms: Case Reports

A blunt‑tipped red rubber catheter is used to confirm the presence of esophageal atresia in any newborn with drooling of saliva and frothing from the mouth. Failure to pass it beyond 10cms into the esophagus is considered diagnostic. We here in report an extremely rare case of broken tip of red rubber catheter lodged in the laryngopharynx of 2-day-old neonate of esophageal atresia with distal tracheoesophageal fistula. During endotracheal intubation foreign body was accidentally removed.
Idiopathic Granulomatous Mastitis Presenting as a Breast Pseudotumor: Case Reports with Review of the Literature
Authors: Nour Abdul Halim, Imad Uthman, Rayan Rammal, Hazem I Assi
Journal: Case Rep Rheumatol (2018)
MeSH terms: Case Reports

Idiopathic granulomatous mastitis is a rare benign inflammatory breast disease that affects women of childbearing age with a history of breastfeeding. It usually presents as an enlarging breast mass that can greatly mimic breast cancer. Moreover, it does not have a specific radiographic finding, so the only way to reach a definitive diagnosis is by core biopsy and histology. Furthermore, a consensus regarding the best treatment modality has not been reached yet. In this report, we describe the cases of two patients who suffered from this disease, and to our knowledge, such a report is the first of its kind to address this topic in this region. Therefore, because of its uncommon nature and obscure presentation, we hereby report two cases of idiopathic granulomatous mastitis. The clinical presentation, treatment, and pathological findings are described, and a literature review on idiopathic granulomatous mastitis will be reported.
Surgery to Treat Symptomatic Mobile Cecum Syndrome Is Safe and Associated with Good Recovery Outcomes
Authors: Manuela Cesaretti, Manuela Trotta, Irene Leale, Giuseppe Antonio Minetti, Giuseppe Cittadini, Fabrizio Montecucco, Giovanni Bruno Camerini, Giacomo Borgonovo
Journal: Case Rep Gastrointest Med (2018)
MeSH terms: Case Reports

The mobile cecum syndrome includes a spectrum of conditions. The cecal volvulus represents the acute form, with typical feature of a bowel obstruction that needs immediate operative treatment. On the other hand, a chronic form of mobile cecum syndrome which is the most common form reported a history of intermittent crampy abdominal pain, distension, and constipation. In this study, five patients came to our attention during the last ten years, presenting different symptoms due to a mobile cecum. All patients were investigated by several diagnostic techniques according to the specific clinical setting. All patients were found to have the cecum and ascending colon unattached to the posterior peritoneum. Surgery was the treatment of choice. In our experience, the best diagnostic technique was computed tomography scan, especially if performed in the Trendelenburg position. We also propose virtual colonoscopy as a good option for diagnosis (in patients with chronic syndrome) and follow-up after surgery. In conclusion, laparoscopic approach guaranteed a good result, with no symptoms of recurrence, in both acute and elective treatments. The diagnosis of mobile cecum needs a high index of suspicion and a targeted radiological investigation. Surgery, especially laparoscopic cecopexy and appendectomy, is the recommended treatment.
Steroid Profiling as an Additional Tool to Confirm One-Sided Hormone Overproduction in Primary Aldosteronism: A Case Report
Authors: Apostolos Chatzitomaris, Graeme Eisenhofer, Tracy Ann Williams, Otari Worms, Volkmar Nicolas, Martin Reincke, Harald H Klein
Journal: Front Endocrinol (Lausanne) (2019)
Keywords: adrenal venous sampling, aldosterone-producing adenoma, primary aldosteronism, somatic kcnj5 mutation, steroid profiling
MeSH terms: Case Reports

Primary aldosteronism (PA) is the leading cause of secondary hypertension. The source of aldosterone hypersecretion is often due to a unilateral aldosterone-producing adenoma, and unilateral laparoscopic adrenalectomy is recommended in such patients. Before surgery, confirmation of unilateral hypersecretion is necessary. This is optimally performed by adrenal venous sampling (AVS). However, AVS is not always successful e.g., due to difficulties in the cannulation of the right adrenal vein. Here we present the case of a 53-year-old female patient with primary aldosteronism, a left-sided adrenal mass and an inconspicuous right adrenal. AVS was performed, but cannulation of the right adrenal vein failed. Therefore, aldosterone hypersecretion also of the right adrenal could not be excluded despite higher aldosterone concentrations in the left renal and adrenal vein. To increase the certainty that the left sided adrenal mass was the source of aldosterone hypersecretion, steroid profiling was performed in a sample from the inferior vena cava. This revealed markedly elevated levels of 18-oxocortisol, 18-hydroxycortisol, 11-deoxycorticosterone, and 11-deoxycortisol, a steroid profile that strongly suggested that the left sided adrenal mass was an aldosterone producing adenoma, most likely due to a somatic KCNJ5 mutation. Following unilateral adrenalectomy, CYP11B2 immunohistochemistry, and genetics analysis of the resected adrenal confirmed a solitary aldosterone-producing adenoma with intense aldosterone synthase expression, which harbored a previously described KCNJ5 Phe154Cys mutation. Biochemical and clinical cure was confirmed 6 months postoperatively.
Papillary thyroid microcarcinoma with contralateral large humerus metastasis and cervical lymph node metastasis: A case report
Authors: Yi Gong, Shixiong Tang, Wanlin Tan, Liyan Liao, Xiaodu Li, Chengcheng Niu
Journal: Front Oncol (2022)
Keywords: pet/ct, bone metastases, cervical lymph node metastases, large humerus metastasis, papillary thyroid microcarcinoma (ptmc), thyroid ultrasonography
MeSH terms: Case Reports

Introduction:
Papillary thyroid microcarcinoma (PTMC) that metastasizes to bone, especially metastasizes to contralateral humerus with so large mass, is rarely reported before.
Case report:
We presented a 50-year-old female patient with a large painful mass in the right humerus for 5 years, presenting with swelling of the right shoulder with limited mobility. Positron emission tomography-computed tomography (PET/CT) showed a large mass in the right humerus, bilateral lung lesions, and enlarged lymph nodes in the right supraclavicular fossa. Right humerus lesion biopsy and immunohistochemical evaluations confirmed that the lesion originated from the thyroid tissue. Then, the thyroid ultrasonography showed a hypo-echoic solid nodule with an irregular taller-than-wide shape in the upper of left thyroid lobe and enlarged lymph nodes with the absence of fatty hilum in the contralateral right IV compartment. The total thyroidectomy and cervical lymph node dissection were undertaken; the histopathology confirmed the diagnosis of PTMC with contralateral cervical lymph node metastasis.
Conclusion:
We reported a case of PTMC with contralateral large humerus and cervical lymph node metastasis and demonstrated the PET/CT images of the metastatic large humerus and thyroid ultrasonographic appearances of the PTMC and enlarged cervical lymph node.
Hypnosis-associated blue-tinted vision: a case report
Authors: Ran D Anbar, Aaron D Savedoff
Journal: BMC Ophthalmol (2005)
MeSH terms: Color Vision Defects / etiology, Hypnosis, Case Reports, Adolescent, Cystic Fibrosis / complications, Humans, Male, Penile Erection

Background:
Self-hypnosis has been taught routinely at the SUNY Upstate Medical University for treatment of pulmonary symptoms thought to be amenable to psychological therapy. While using hypnosis for relaxation, four individuals, including a patient with cystic fibrosis, reported development of blue-tinted vision. Based on a search of the literature, we believe this is the first published report of hypnosis-associated blue-tinted vision.
Case presentation:
The patient reported blue-tinted vision when he used hypnosis on an almost daily basis for seven years. The visual change typically occurred when he was relaxed. Moreover, a concurrent erection in the absence of sexual thoughts usually was present. The other three individuals reported blue-tinted vision after learning how to use hypnosis for relaxation as part of a group hypnosis instruction.
Conclusion:
The blue-tinted vision experienced by the individuals in this report may be the result of an hypnosis-induced primary change in cognitive processing. Additionally, as the relaxing effect of hypnosis can be associated with a reduction in blood pressure and increased blood flow, hypnosis-associated blue-tinted vision also may be related to retinal vasodilation.
Trachoma in 3 Amerindian Communities, Venezuelan Amazon, 2018
Authors: Oscar Noya-Alarcón, Maríapía Bevilacqua, Alfonso J Rodríguez-Morales
Journal: Emerg Infect Dis (2019)
Keywords: amerindians, chlamydia trachomatis, trachoma, venezuela, bacteria, blindness, indigenous population, neglected tropical diseases, ocular infection
MeSH terms: Blindness / diagnosis, Chlamydia trachomatis / isolation & purification, Trachoma / diagnosis, Case Reports, Adult, Blindness / microbiology, Female, Humans, Indians, South American, Male, Middle Aged, Neglected Diseases, Trachoma / microbiology, Tropical Medicine, Venezuela, Young Adult

Trachoma is among the most common infectious causes of blindness. During January-May 2018, a total of 4 trachoma cases were diagnosed among Amerindians of the Yanomami ethnic group in 3 communities of southern Venezuela. This country has social and environmental conditions conducive to the endemicity of this neglected tropical disease.
Syndrome of extreme insulin resistance (Rabson-Mendenhall phenotype) with atrial septal defect: clinical presentation and treatment outcomes
Authors: Deep Dutta, Indira Maisnam, Sujoy Ghosh, Satinath Mukhopadhyay, Subhankar Chowdhury
Journal: J Clin Res Pediatr Endocrinol (2013)
MeSH terms: Donohue Syndrome / genetics, Insulin Resistance / genetics, Case Reports, Adolescent, Donohue Syndrome / drug therapy, Female, Heart Septal Defects, Atrial / genetics, Humans, Hypoglycemic Agents / therapeutic use, Pioglitazone, Thiazolidinediones / therapeutic use, Treatment Outcome, Hypoglycemic Agents, Thiazolidinediones, Pioglitazone

Syndrome of extreme insulin resistance (SEIR) is a rare spectrum disorder with a primary defect in insulin receptor signalling, noted primarily in children, and is often difficult to diagnose due to the clinical heterogeneity.SEIR was diagnosed in an adolescent girl with facial dysmorphism,exuberant scalp and body hair, severe acanthosis, lipoatrophy, dental abnormalities, and short stature (Rabson-Mendenhall phenotype). She had elevated fasting (422.95 pmol/L) and post-glucose insulin levels(>2083 pmol/L). Total body fat was decreased (11%; dual-energy X-ray absorptiometry). Basal growth hormone (GH) was increased (7.9 μg/L)with normal insuline-like growth factor 1 (37.6 nmol/L) suggestive of GH resistance. She had fatty liver and polycystic ovaries. Echocardiography revealed ostium secundum type atrial septal defect (ASD). Blood glucose normalized with pioglitazone (30 mg/day). Delayed development, severe insulin resistance, mild hyperglycemia, absence of ketosis, and remarkable response of hyperinsulinemia and hyperglycemia to pioglitazone which persisted even after 1 year of diagnosis are some of the notable features of this patient. This is perhaps the first report of occurrence of congenital heart disease (ASD) in a patient of SEIR (Rabson-Mendenhall phenotype). This report highlights the clinical features of SEIR and the role of insulin sensitizers like pioglitazone in the management of such patients.
Vulval elephantiasis: a case report
Authors: Harsh Mohan, Bhumika Bisht, Poonam Goel, Geeta Garg
Journal: Case Rep Infect Dis (2012)

Introduction. Elephantiasis is a chronic manifestation of filariasis; it commonly affects limbs, scrotum, and trunk. Females have lower incidence of filarial infection. Vulval elephantiasis due to filariasis is still rarer. It is difficult to make the diagnosis on histopathology alone, more so in view of the fact that the parasite is usually not identified in tissue sections. Identification of microfilariae in night samples of peripheral blood or seropositivity for filarial antigen is requisite for the correct diagnosis. Case Presentation. A young female presented with progressively increasing vulval swelling over a period of two years. The swelling was soft and measured 5 × 6 cm. Other possible differential diagnoses were excluded, and ancillary tests were performed to reach a conclusive diagnosis of vulval elephantiasis on histopathology. Conclusion. Vulval elephantiasis due to filariasis is rare. Its diagnosis on histopathology is more often by exclusion. High index of suspicion on microscopic findings and corelation with relevant diagnostic tests are required to reach the correct diagnosis.
Hutchinson-Gilford progeria syndrome complicated with stroke: A report of 2 cases and literature review
Authors: Jingjing Wang, Qinmei Yu, Xiaohui Ma, Zhefeng Yuan, Jianhua Mao
Journal: Front Pediatr (2022)
Keywords: hgps, lmna, clinical manifestations, imaging features, stroke
MeSH terms: Case Reports

Background:
Hutchinson-Gilford Progeria Syndrome (HGPS) is a ultrarare, fatal autosomal dominant disorder. The pathogenesis of the disease is a mutation in LMNA, which leads to the accumulation of progerin in cells, impairing the normal physiological functions. Stroke and transient ischemic attack seriously affect the survival rate and quality of life of HGPS children, although the literature of this aspect is limited. This study summarizes the clinical manifestations and related imaging features of HGPS children with stroke to improve pediatric clinicians' understanding of this disease.
Case presentation:
Both children have a de novo heterozygous mutation of LMNA [c.1824C > T ( p.G608G)]. Case 1. At the age of 4 years, the child had a cerebral infarction, which manifested as blurred vision and communication disturbance. Multiple abnormal signals were observed on the head MRI in the bilateral frontoparietal cortex, bilateral semiovale center, lateral ventricle, and deep frontal and parietal lobes. Multiple abnormal white matter signals on head MRA: bilateral internal carotid artery stenosis with basilar artery, and bilateral thickening of the posterior communicating artery. Case 2. At the age of 8.5 years, the child presented with cerebral infarction, which manifested as decreased muscle strength and choking after drinking water. MRI of the head showed that the bilateral frontal lobes were small with multiple abnormal signal shadows in the bilateral center of the semiovale and the lateral ventricle. Brain MRA revealed that the bilateral internal carotid arteries (C5-7) were narrow and uneven in thickness, and the A1 segment of the left anterior cerebral artery was narrower than the contralateral one. After symptomatic and supportive treatment, the two children improved.
Conclusion:
Hemiplegia and physical weakness are the most prevalent stroke symptoms in children with HGPS, followed by headache, epilepsy, dysarthria, and psychosis as the primary manifestation in some children. Stroke in children with HGPS is mostly ischemic cerebral infarction caused by an insufficient cerebral blood supply. Pediatric cerebral infarction mainly occurs in the large vascular area, involving all vascular areas, with the internal carotid artery and middle cerebral artery being the most commonly accumulated.
Targeted Engagement of the Action Selection Network during Task-Oriented Arm Training after Stroke
Authors: Jill Campbell Stewart, Kaci Handlery, Jessica F Baird, Erika L Blanck, Geetanjali Pathak, Stacy L Fritz
Journal: Neural Plast (2020)
MeSH terms: Brain / physiopathology, Movement, Psychomotor Performance / physiology, Stroke / physiopathology, Stroke Rehabilitation, Research Support, Non-U.S. Gov't, Aged, Arm / physiopathology, Brain Mapping, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Motor Cortex / physiopathology, Neural Pathways / physiopathology, Parietal Lobe / physiopathology, Prefrontal Cortex / physiopathology

Action selection (AS), or selection of an action from a set of alternatives, is an important movement preparation process that engages a frontal-parietal network. The addition of AS demands to arm training after stroke could be used to engage this motor planning process and the neural network that supports it. The purpose of this case series is to describe the feasibility and outcomes associated with task-oriented arm training aimed at engaging the AS behavioral process and the related neural network in three individuals with chronic stroke. Three participants with mild to moderate motor deficits completed 13 to 15 sessions of task-oriented arm training that included AS cues for each movement repetition; cues dictated movement direction, height, or distance. Before and after training, individuals completed an AS brain-behavior probe during functional MRI. AS behavioral performance improved after training (increased accuracy, decreased reaction time) in all participants while brain activation in the AS network (dorsal premotor, parietal, dorsolateral prefrontal cortices) decreased in two participants. Gains in motor function were also found in all three participants, especially on patient-reported measures of perceived difficulty and confidence to complete upper extremity functional tasks. It was feasible to target the AS behavioral process and the related neural network through the addition of AS demands to functional, task-oriented arm training in three individuals with mild to moderate motor dysfunction poststroke.