OpenMed/multicare-articles huggingface dataset:
Case Report: Robotically Assisted Excision of Cystic Tumor Located in a Difficult to Access Area in the Liver
Authors: Evgeny Solomonov, Itamar Tzadok, Seema Biswas
Journal: Front Surg (2021)
Keywords: cyst, hepatopancreaticobiliary, liver, minimally invasive, robotic
MeSH terms: Case Reports

Introduction: Cystic liver lesions may be benign cysts, parasitic infestations, or malignant tumors requiring surgical resection. Hilar location and relation to major vasculature present challenges in conventional surgical access and resection. Materials and Methods: We describe totally robotic excision of a cystadenoma in a 55-year-old woman without complication. Time points in the accompanying video (https://youtu.be/Tn_QPgpSHA4) are embedded within the text. Results: Advantages of the robotic technique lie in overcoming the natural restriction of conventional laparoscopic instruments, easier repair, and control of intraoperative vascular injuries using EndoWrist® instruments, ergonomic dissection close to major vasculature and reduced intraoperative blood loss as dissection is easier. Discussion: Indications for robotic surgery included the large size of the cystic lesion, its intrahepatic location, and compression of the inferior vena cava (IVC) and right and middle hepatic veins. Had robotic removal of the lesion not been feasible, the entire lobe of the liver would have required resection.
Case report: Optimized ruxolitinib-based therapy in an infant with familial hemophagocytic lymphohistiocytosis type 3
Authors: Daiki Niizato, Takeshi Isoda, Noriko Mitsuiki, Shuya Kaneko, Dan Tomomasa, Takahiro Kamiya, Masatoshi Takagi, Kohsuke Imai, Michiko Kajiwara, Masaki Shimizu, Tomohiro Morio, Hirokazu Kanegane
Journal: Front Immunol (2022)
Keywords: hlh, cytokine, familial hemophagocytic lymphohistiocytosis (fhl), hematopoietic cell transplantation (hct), janus kinase, ruxolitinib
MeSH terms: Lymphohistiocytosis, Hemophagocytic / diagnosis, Lymphohistiocytosis, Hemophagocytic / drug therapy, Case Reports, Cytokines, Humans, Infant, Interleukin-18, Pyrazoles / therapeutic use, Receptors, Interleukin-2, Interleukin-18, ruxolitinib, Pyrazoles, Receptors, Interleukin-2, Cytokines

Familial hemophagocytic lymphohistiocytosis (FHL) is a rare and fatal autosomal recessive immune disorder characterized by uncontrolled activation of T and NK cells, macrophages, and overproduction of inflammatory cytokines. Early hematopoietic cell transplantation (HCT) is required for long-term survival. Current therapy is based on the HLH-94/2004 protocol, but is insufficient to fully control disease activity. This case report describes an infant with FHL type 3 who, despite initial therapy with dexamethasone and etoposide, showed aberrant cytokine levels, including interleukin-18 (IL-18), chemokine ligand 9 (CXCL9), soluble interleukin-2 receptor (sIL-2R), and soluble tumor necrosis factor receptor type II (sTNF-RII). The Janus kinase inhibitor ruxolitinib was therefore coadministered. The patient was treated with dose-adjusted ruxolitinib guided by cytokine profiles, and was successfully prepared for HCT. The results demonstrate the effectiveness and safety of dose-adjusted ruxolitinib as a bridging therapy for FHL, and the value of monitoring cytokine levels, especially IL-18, CXCL9, sIL-2R, and sTNF-RII, as disease-activity markers for FHL.
Atypical Presentation: Metastatic Uveal Melanoma in a Young Patient without Visual Complaints
Authors: Pedro Grachinski Buiar, Sérgio Jobim de Azevedo
Journal: Front Oncol (2017)
Keywords: atypical, melanoma, metastasis, uveal, young
MeSH terms: Case Reports

Background:
Uveal melanoma is a rare and aggressive subtype of melanoma, with singular characteristics that separate it from the most famous cutaneous melanoma. This uncommon condition becomes even rarer if we look at young population. Common chemotherapy regimens does not work with this aggressive disease in its metastatic scenario, and the new armament like targeted and immunotherapies are still looking for more robust evidence.
Case presentation:
We report a rare case of uveal melanoma in a patient younger than 20 years, with abdominal pain as his initial complaint. He did not present the typical visual symptoms of the primary site because of an auto accident suffered 4 months before the presentation, letting him blind of the eye affected by the tumor development.
Conclusion:
There is always a possibility of the diagnosis of uveal melanoma in cases with associated isolated hepatic metastases, even in a young population, where this hypothesis is often rejected by the epidemiological frequency of other tumors. This rare case is a useful example.
Primary adrenal insufficiency caused by a novel mutation in DAX1 gene
Authors: Olcay Evliyaoğlu, İpek Dokurel, Feride Bucak, Bahar Özcabı, Özcabı Ercan, Serdar Ceylaner
Journal: J Clin Res Pediatr Endocrinol (2013)
MeSH terms: Addison Disease / genetics, Adrenal Hyperplasia, Congenital / genetics, DAX-1 Orphan Nuclear Receptor / genetics, Genetic Diseases, X-Linked / genetics, Case Reports, Adrenal Insufficiency, Frameshift Mutation, Humans, Hypoadrenocorticism, Familial, Infant, Male, DAX-1 Orphan Nuclear Receptor, NR0B1 protein, human

Adrenal hypoplasia congenita (AHC) is a rare disorder. The X-linked form is related to mutations in the DAX1 (NROB1) gene. Here, we report a newborn who had a novel hemizygous frameshift mutation in DAX1(c.543delA) and presented with primary adrenal failure that was initially misdiagnosed as congenital adrenal hyperplasia. This report highlights the value of genetic testing for definite diagnosis in children with primary adrenal failure due to abnormal adrenal gland development, providing the possibility both for presymptomatic, and in cases with a sibling with this condition, for prenatal diagnosis.
Simultaneous double dislocation of the interphalangeal joint of the same finger: a report of two cases
Authors: Yasuhiro Seki
Journal: Pan Afr Med J (2014)
Keywords: finger dislocation, early range of motion, manual reduction
MeSH terms: Finger Injuries / diagnostic imaging, Finger Joint / diagnostic imaging, Joint Dislocations / diagnostic imaging, Case Reports, Accidental Falls, Aged, Finger Injuries / etiology, Humans, Joint Dislocations / etiology, Male, Middle Aged, Radiography

Simultaneous dislocation of both the proximal and distal interphalangeal (PIP and DIP) joints in a finger is uncommon. Two patients were treated conservatively. Both two patients fell from a step-ladder and X-rays revealed dorsal dislocations of both PIP and DIP joints of their right little fingers. Manual reduction was easily achieved with gentle longitudinal traction. The mechanism of the injury is believed to be hyperextension of both the DIP and PIP joints. Closed reduction is the treatment of choice and early active range of motion to prevent joint contracture should be recommended.
Modified and grafted coronectomy: a new technique and a case report with two-year followup
Authors: Michael Leizerovitz, Olga Leizerovitz
Journal: Case Rep Dent (2013)

Purpose. A standard coronectomy (intentional partial odontectomy) is recommended for mandibular third molar (MTM) extraction cases with a high risk of inferior alveolar nerve injury (IANI). However, complications such as inadvertent intraoperative root removal, post-op root migration, second molar (MSM) periodontal defects and others do exist. This report presents a new technique, the Modified and Grafted Coronectomy (MGC), describes the measures to prevent or minimize the known drawbacks of the standard coronectomy, and reviews the literature for comparison with three other IANI-prevention techniques. Materials and Methods. MGC was performed on two MTMs with nerve involvement and severe periodontal pockets on the distal of MSM. Modifications were: stabilizing the root stump to prevent intraoperative movement, creation of a large intrabony space for bone graft material, and grafting for periodontal healing while minimizing the possibility of post-op root migration. Results. Excellent overall periodontal improvement, with probing depths reduced to 3-4 mm. Panoramic radiograph displayed remarkable bone regeneration. No residual root migration was evident at the two year follow up. Conclusion. MGC may be a good alternative, especially in cases with periodontal defects on the distal of MSM. It may also help to minimize inadvertent intraoperative root removal and postoperative root migration.
Early-Onset Creutzfeldt-Jakob Disease Mimicking Immune-Mediated Encephalitis
Authors: Wietse A Wiels, Stephanie Du Four, Laura Seynaeve, Anja Flamez, Thomas Tousseyn, Dietmar Thal, Miguel D'Haeseleer
Journal: Front Neurol (2018)
Keywords: creutzfeldt-jakob disease, vv1 type, dementia, glycine receptor antibodies, progressive encephalomyelitis with rigidity and myoclonus
MeSH terms: Case Reports

Objectives:
The objective of this study is to explore the clinical, radiological, and pathological manifestations of a rare subtype of prion disease and their implication for differential diagnosis in case of an early onset neuropsychiatric deterioration.
Methods:
We discuss a patients' clinical history, as well as the string of investigations and symptomatological evolution that finally led to a pathological diagnosis.
Results:
Our patient had the extremely rare VV1 type sporadic Creutzfeldt-Jakob disease (sCJD). We explain the differential diagnosis of progressive encephalomyelitis with rigidity and myoclonus and its implications for treatment.
Conclusion:
sCJD, especially the VV1 subtype, can present at an early age with an insidious psychiatric onset. Classical findings of prion disease-14-3-3 protein, PSWC on electroencephalography, and magnetic resonance imaging patterns-are not always present. The presence of neural autoantibodies does not always implicate pathogenicity in the presence of other neurological/neurodegenerative conditions.
Rare case of a chondrosarcoma of the mandible in a child
Authors: Hendryk Vieweg, Jan Thiess Deichen, Fabian Scheer, Reimer Andresen, Roland Talanow
Journal: Case Rep Pediatr (2013)

Chondrosarcoma of the mandible is rare, especially in children. The available literature consists mostly of a few case reports which are partly integrated in small studies. Growing this small pool of literature is helpful in solidifying knowledge about this disease and facilitating appropriate treatment for children. Therefore, we present such a case in a 12-year-old boy, exhibit comprehensive and relevant information concerning this entity, and discuss our findings in the context of other publications.
Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism
Authors: Joanna Yuet-Ling Tung, Sophie Hon Yu Lai, Sandy Leung Kuen Au, Kit San Yeung, Anita Sik Yau Kan, Florence Loong, Diva D DeLeón, Jennifer M Kalish, Arupa Ganguly, Brian Hon Yin Chung, Kelvin Yuen Kwong Chan
Journal: Int J Pediatr Endocrinol (2020)
Keywords: beckwith-wiedemann syndrome, congenital hyperinsulinism, hyperinsulinism, upd11
MeSH terms: Case Reports

Background:
Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome with variable clinical phenotype and complex molecular aetiology. It is mainly caused by dysregulation of the chromosome 11p15 imprinted region, which results in overgrowth in multiple tissues, often in a mosaic manner.
Case presentation:
A large-for-gestational-age infant without any other somatic features of BWS presented with medically refractory hyperinsulinism (HI) requiring 80% pancreatectomy. Next generation sequencing with congenital HI sequencing panel identified a pathogenic ABCC8:c.1792C > T (p.Arg598Ter) variant of paternal origin, suggestive of focal HI. However, pancreatic histology revealed atypical findings of coalescing nests and trabeculae of adenomatosis scattered with islets with isolated enlarged, hyperchromatic nuclei scattered throughout the pancreas. Methylation analysis, SNP-based chromosomal microarray and short tandem repeat markers analysis revealed mosaic segmental paternal uniparental disomy (UPD) 11p15.5-p15.1 in the pancreatic tissue, but not the peripheral blood, suggestive of BWS/BW-spectrum HI.
Conclusions:
This case highlights the importance of integrating the clinical presentation and subsequent clinical course, together with radiological, genetic and histological findings in the definitive diagnosis of this rare yet clinically important entity. In addition, this is the first report that demonstrated the level of paternal inherited c.1792 T pathogenic variant in the pancreatic tissue being directly correlated to the mosaic level of pUPD.
A Rare Cause of Pulmonary Hypertension in a 4-Year-Old Toddler: Association of Cor Triatriatum Sinister and Pulmonary Arteriovenous Malformation
Authors: Can Yilmaz Yozgat, Erkan Cakir, Hakan Yazan, Hafize Otcu Temur, Kahraman Yakut, Yilmaz Yozgat
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

Cor triatriatum sinister is a rare congenital cardiac anomaly. The anomaly is caused by a fibromuscular membrane that divides the left atrium into two cavities. This membrane can lead to the obstruction of left atrial flow and also create pulmonary venous hypertension. Pulmonary arteriovenous malformation (PAVM) is notorious for its aberrant blood flow between the pulmonary arteries and veins. Herein, we report a case of a 4-year-old toddler who had a unique form of pulmonary hypertension presenting with cor triatriatum sinister and diffuse PAVM. After the surgical treatment of cor triatriatum sinister, both pulmonary arteriovenous malformation and pulmonary hypertension disappeared.
Situations of work-related diseases and injuries among agriculturists in the upper northeast regions of Thailand
Authors: Sunisa Chaiklieng, Chuthamas Chagkornburee, Pornnapa Suggaravetsiri
Journal: F1000Res (2023)
Keywords: big data, icd-10, agriculturists, occupational disease, surveillance
MeSH terms: Agriculture, Occupational Diseases / epidemiology, Research Support, Non-U.S. Gov't, Data Analysis, Humans, Retrospective Studies, Thailand / epidemiology

Background: Agriculturists exposed to health hazards are affected by increased occupational disease. This retrospective study aimed to investigate situations of work-related diseases and injuries among agriculturists in upper northeast Thailand. Methods: The secondary data of international classification of diseases 10 th revision (ICD-10) case reports of occupational disease among farmers, from the database of the Health Data Center (HDC), were used. The registered farmers data was collected as a dataset from the provincial agricultural office and the data of ICD-10 code utilised from the hospital information system (HIS) of healthcare services in Udon Thani and Roi-Et provinces, which was extracted for cases of work-related diseases and injuries of registered agriculturists. The annual morbidity rate of occupational diseases was analysed and presented at a rate per 100,000 farmers. Results: Among farmers in the HDC database, lung disease, which was not reported as occupational disease of the HDC database, was the highest ranking of all diseases, followed by work-related musculoskeletal disorders (WMSDs), noise- and heat-related diseases, and pesticide toxicity, respectively, while the injury rate was as high as that of WMSDs. Those morbidity rates of Roi-Et and Udon Thani provinces were representative of the morbidity ranking of diseases of the nation and had increasing trends from 2014 to 2016. The number of farmers in the HDC database did not consistently reflect the number of registered farmers in the agricultural database. Conclusions: Situations of work-related diseases and injuries discovered among registered farmers reflect the health problems of Thai agriculturists, and the underestimation in the reported disease rate in the health database is explained by big data analysis, which showed that work-related cases with an identifying code of Y96 had rarely been reported among agriculturists. Therefore, Thai agriculturists should be supported in registration with occupational diseases and injuries surveillance as holistic healthcare.
Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies
Authors: N B Toppings, J M McMillan, P Y B Au, O Suchowersky, L E Donovan
Journal: Case Rep Endocrinol (2018)
MeSH terms: Case Reports

Background:
Classical Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations in WFS1, a gene implicated in endoplasmic reticulum (ER) and mitochondrial function. WS is characterized by insulin-requiring diabetes mellitus and optic atrophy. A constellation of other features contributes to the acronym DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). This review seeks to raise awareness of this rare form of diabetes so that individuals with WS are identified and provided with appropriate care.
Case:
We describe a woman without risk factors for gestational or type 2 diabetes who presented with gestational diabetes (GDM) at the age of 39 years during her first and only pregnancy. Although she had optic atrophy since the age of 10 years, WS was not considered as her diagnosis until she presented with GDM. Biallelic mutations in WFS1 were identified, supporting a diagnosis of classical WS.
Conclusions:
The distinct natural history, complications, and differences in management reinforce the importance of distinguishing WS from other forms of diabetes. Recent advances in the genetics and pathophysiology of WS have led to promising new therapeutic considerations that may preserve β-cell function and slow progressive neurological decline. Insight into the pathophysiology of WS may also inform strategies for β-cell preservation for individuals with type 1 and 2 diabetes.
Efficacy of 90Y ibritumomab-tiuxetan treatment in a case of resistant gastric MALT non-Hodgkin's lymphoma
Authors: P F Ferrucci, A Vanazzi, C Crosta, G Pruneri, C Grana, M Bartolomei, G Paganelli, G Martinelli
Journal: Ecancermedicalscience (2008)
MeSH terms: Case Reports

Treatment modalities for resistant/relapsing gastric mucosa associated lymphoid tissue (MALT) non-Hodgkin's lymphoma (NHL) are not yet well standardized. In the past, most patients were treated surgically with a gastrectomy, while, more recently, radiotherapy and systemic approaches (chemotherapy and immunotherapy) have been used with improving results.Here, we report the case of a patient affected by MALT NHL resistant to antibiotics, chemotherapy and immunotherapy, who achieved a durable complete remission after radio-immunotherapy treatment with Zevalin ((90)Y ibritumomab-tiuxetan), administered in a single-standard dose. This observation must be confirmed on a larger series but suggests that radio-immunotherapy may be a valid approach in treating relapsing MALT NHL patients, or those resistant to conventional therapies, so avoiding more aggressive and toxic approaches.
Delayed-onset hypovolemic shock after the Nuss procedure for pectus excavatum
Authors: Jin Yong Jeong, Jong Hui Suh, Jeong Seob Yoon, Chan Beom Park
Journal: J Cardiothorac Surg (2014)
MeSH terms: Funnel Chest / surgery, Hemothorax / etiology, Shock / etiology, Case Reports, Adolescent, Humans, Male, Minimally Invasive Surgical Procedures / adverse effects, Minimally Invasive Surgical Procedures / methods

The Nuss procedure, which is a minimally invasive approach for treating pectus excavatum, has better functional and cosmetic outcomes than other invasive procedures. Cardiac perforation is the most serious complication and several methods for the prevention of intraoperative events has been developed. Although most cardiac injuries are detected in the operating room, in the case described herein the patient experienced sudden hypovolemic shock during the postoperative recovery period. This indicates that special caution is mandatory even after successful execution of the Nuss procedure.
Kinematic analysis of impairments and compensatory motor behavior during prosthetic grasping in below-elbow amputees
Authors: Amélie Touillet, Adrienne Gouzien, Marina Badin, Pierrick Herbe, Noël Martinet, Nathanaël Jarrassé, Agnès Roby-Brami
Journal: PLoS One (2022)
MeSH terms: Amputees, Artificial Limbs, Elbow Joint, Research Support, Non-U.S. Gov't, Biomechanical Phenomena, Elbow, Humans

After a major upper limb amputation, the use of myoelectric prosthesis as assistive devices is possible. However, these prostheses remain quite difficult to control for grasping and manipulation of daily life objects. The aim of the present observational case study is to document the kinematics of grasping in a group of 10 below-elbow amputated patients fitted with a myoelectric prosthesis in order to describe and better understand their compensatory strategies. They performed a grasping to lift task toward 3 objects (a mug, a cylinder and a cone) placed at two distances within the reaching area in front of the patients. The kinematics of the trunk and upper-limb on the non-amputated and prosthetic sides were recorded with 3 electromagnetic Polhemus sensors placed on the hand, the forearm (or the corresponding site on the prosthesis) and the ipsilateral acromion. The 3D position of the elbow joint and the shoulder and elbow angles were calculated thanks to a preliminary calibration of the sensor position. We examined first the effect of side, distance and objects with non-parametric statistics. Prosthetic grasping was characterized by severe temporo-spatial impairments consistent with previous clinical or kinematic observations. The grasping phase was prolonged and the reaching and grasping components uncoupled. The 3D hand displacement was symmetrical in average, but with some differences according to the objects. Compensatory strategies involved the trunk and the proximal part of the upper-limb, as shown by a greater 3D displacement of the elbow for close target and a greater forward displacement of the acromion, particularly for far targets. The hand orientation at the time of grasping showed marked side differences with a more frontal azimuth, and a more "thumb-up" roll. The variation of hand orientation with the object on the prosthetic side, suggested that the lack of finger and wrist mobility imposed some adaptation of hand pose relative to the object. The detailed kinematic analysis allows more insight into the mechanisms of the compensatory strategies that could be due to both increased distal or proximal kinematic constraints. A better knowledge of those compensatory strategies is important for the prevention of musculoskeletal disorders and the development of innovative prosthetics.
Two Case Reports of Biliary Tract Injuries during Laparoscopic Cholecystectomy
Authors: O Romano, C Romano, D Cerbone, P Sperlongano, L Caserta, N Frega, G Cimmino, A D'Agostino, R Addeo
Journal: ISRN Gastroenterol (2011)
MeSH terms: Case Reports

Background and Study Aims. Biliary tract injuries (BTI) represent the most serious and potentially life-threatening complication of cholecystectomy occurring also during laparoscopic approaches. Patients and Methods. We describe and discuss two different cases of BTI occurring during laparoscopic cholecystectomy (LC). Results. Two patients developed BTI during LC and one evidenced the complication during the LC itself and was treated during the same LC in real time. The other patient evidenced BTI only after the primary intervention and was successfully reoperated in laparotomy after 10 days from the LC. Conclusions. The factors that predispose to the occurrence of BTI during cholecystectomy and the cautions to be used to prevent BTI are discussed.