OpenMed/multicare-articles huggingface dataset:
Allotrichophagia: A Unique Case of Parental Adjustment to Filial Pediatric Malignancy
Authors: Damir Huremović, Madhavi Latha Nagalla, Sameer Khan
Journal: Case Rep Psychiatry (2022)
MeSH terms: Case Reports

A 36-year-old Hispanic female patient with gastrointestinal symptoms and weight loss was found to have a trichobezoar in her stomach requiring a surgical removal. Psychiatry team was consulted due to concerns for depression and trichotillomania. The psychiatric evaluation revealed that the patient was not ingesting her own hair - the most common instance in cases of trichotillomania and trichophagia, but her daughter's hair. The patient was doing this as an unconscious, spontaneous response to her daughter's manifest hair loss caused by daughter's malignancy and treatment thereof. The patient was given a diagnosis of Adjustment disorder and treated as such, as the patient's symptoms resolved with her daughter's remission. The patient's cultural background was taken into consideration and the team explored cultural factors that could have mediated such a response. The team also explored the psychodynamic aspects of this case in order to attain a more comprehensive understanding of this patient's unique presentation. To best describe this unusual behavior, we coined a term for such a phenomenon - allotrichophagia (Greek: eating others' hair).
Warfarin Dosing in a Patient with CYP2C9(∗)3(∗)3 and VKORC1-1639 AA Genotypes
Authors: Mark Johnson, Craig Richard, Renee Bogdan, Robert Kidd
Journal: Case Rep Genet (2014)

Genetic factors most correlated with warfarin dose requirements are variations in the genes encoding the enzymes cytochrome P450 2C9 (CYP2C9) and vitamin K epoxide reductase (VKOR). Patients receiving warfarin who possess one or more genetic variations in CYP2C9 and VKORC1 are at increased risk of adverse drug events and require significant dose reductions to achieve a therapeutic international normalized ratio (INR). A 74-year-old white female with atrial fibrillation was initiated on a warfarin dose of 2 mg PO daily, which resulted in multiple elevated INR measurements and three clinically significant hemorrhagic events and four vitamin K antidote treatments over a period of less than two weeks. Genetic analysis later revealed that she had the homozygous variant genotypes of CYP2C9∗3∗3 and VKORC1-1639 AA. Warfarin dosing was subsequently restarted and stabilized at 0.5 mg PO daily with therapeutic INRs. This is the first case report of a white female with these genotypes stabilized on warfarin, and it highlights the value of pharmacogenetic testing prior to the initiation of warfarin therapy to maximize efficacy and minimize the risk of adverse drug events.
A female survivor of childhood medulloblastoma presenting with growth-hormone-induced edema and inflammatory lesions: a case report
Authors: Veronica Biassoni, Federica Pallotti, Filippo Spreafico, Ettore Seregni, Lorenza Gandola, Antonella Martinetti, Emilio Bombardieri, Maura Massimino
Journal: J Med Case Rep (2009)

Introduction:
The improved survival of children with brain tumors has increased concerns about treatment-related sequelae. Growth hormone deficiency is frequently observed after craniospinal irradiation for medulloblastoma. It has been widely reported that growth hormone replacement therapy does not increase the risk of second tumors, but there are reports in the literature of growth hormone, and its downstream mediator insulin-like Growth Factor 1, having an important proinflammatory action. There are few reports, however, on the "in-vivo" induction of edema and symptomatic inflammatory lesions during replacement therapy.
Case presentation:
We report the case of a 7-year-old girl treated for metastatic medulloblastoma who developed growth hormone deficiency 2 years after oncological treatment.Three months after replacement therapy, magnetic resonance imaging showed exacerbation of her brain edema, which was already present after oncological treatment. We consequently suspended the growth hormone until a new magnetic resonance image obtained 3 months later documented a reduction of the inflammatory areas. We then re-introduced somatotropin at lower doses with no further increase in brain edema in subsequent radiological controls.
Conclusion:
This case and its iconography suggest a strong association between growth hormone administration and the exacerbation of inflammatory reactions within the tumor bed. Replacement therapy should be carefully monitored in this particular subset of patients.
HE4 in the differential diagnosis of a pelvic mass: a case report
Authors: Emanuela Anastasi, Teresa Granato, Anna Coppa, Lucia Manganaro, Giuseppe Giannini, Sara Comploj, Luigi Frati, Cecilia Midulla
Journal: Int J Mol Sci (2011)
Keywords: he4 tumor marker, endometriosis, high-risk patients, ovarian cancer
MeSH terms: Diagnosis, Differential, Proteins / metabolism, Case Reports, Research Support, Non-U.S. Gov't, Adult, Biomarkers, Tumor / blood, Biomarkers, Tumor / metabolism, CA-125 Antigen / blood, Female, Humans, Ovarian Cysts / blood, Ovarian Cysts / diagnosis, Ovarian Cysts / metabolism, Ovarian Neoplasms / blood, Ovarian Neoplasms / diagnosis, Ovarian Neoplasms / metabolism, WAP Four-Disulfide Core Domain Protein 2, Biomarkers, Tumor, CA-125 Antigen, Proteins, WAP Four-Disulfide Core Domain Protein 2, WFDC2 protein, human

Neoplasms of the ovary present an increasing challenge to the physician. Neoplastic ovarian cysts can resemble endometriomas in ultrasound imaging and need to be carefully considered in the differential diagnosis. We report the case of a woman with a strong family history of hereditary breast and ovarian cancer, who presented with a pelvic mass. The young girl refused oncogenetic counseling and genetic testing, even though she had a 50% a priori probability of being a BRCA1 mutation carrier. Pelvic magnetic resonance imaging (MRI) and a comparative analysis of the serum concentration of HE-4 and CA125 biomarkers provided accuracy and sensitivity in the diagnosis of a benign ovarian pathology. Based on this experience, we propose that the sensitivity of a screening program based on a HE4 and CA125 assay and MRI in high risk patients with mutations in the BRCA1 and BRCA2 genes may be considered a useful pre-operative tool for the differential diagnosis of pelvic masses.
Double trouble: a case of bilateral multiple epidermal inclusion cysts after reduction mammaplasty
Authors: Khairun Izlinda Abdul Jalil, David Herlihy, Edward Jason Kelly
Journal: Case Reports Plast Surg Hand Surg (2023)
Keywords: epidermal inclusion cysts, breast surgery, reduction mammaplasty
MeSH terms: Case Reports

Epidermal inclusion cysts (EIC) of the breast are uncommon and can occur after previous surgery or trauma. Here we discuss a case of massive bilateral multiple EIC of the breast presenting seven years after reduction mammaplasty. This report highlights the importance of accurate diagnosis and management of this rare condition.
Nature and Specificity of Gestural Disorder in Children with Developmental Coordination Disorder: A Multiple Case Study
Authors: Orianne Costini, Arnaud Roy, Chrystelle Remigereau, Sylvane Faure, Catherine Fossoud, Didier Le Gall
Journal: Front Psychol (2017)
Keywords: child, developmental coordination disorder, dyspraxia, gestures, praxis

Aim: Praxis assessment in children with developmental coordination disorder (DCD) is usually based on tests of adult apraxia, by comparing across types of gestures and input modalities. However, the cognitive models of adult praxis processing are rarely used in a comprehensive and critical interpretation. These models generally involve two systems: a conceptual system and a production system. Heterogeneity of deficits is consistently reported in DCD, involving other cognitive skills such as executive or visual-perceptual and visuospatial functions. Surprisingly, few researches examined the impact of these functions in gestural production. Our study aimed at discussing the nature and specificity of the gestural deficit in DCD using a multiple case study approach. Method: Tasks were selected and adapted from protocols proposed in adult apraxia, in order to enable a comprehensive assessment of gestures. This included conceptual tasks (knowledge about tool functions and actions; recognition of gestures), representational (transitive, intransitive), and non-representational gestures (imitation of meaningless postures). We realized an additional assessment of constructional abilities and other cognitive domains (executive functions, visual-perceptual and visuospatial functions). Data from 27 patients diagnosed with DCD were collected. Neuropsychological profiles were classified using an inferential clinical analysis based on the modified t-test, by comparison with 100 typically developing children divided into five age groups (from 7 to 13 years old). Results: Among the 27 DCD patients, we first classified profiles that are characterized by impairment in tasks assessing perceptual visual or visuospatial skills (n = 8). Patients with a weakness in executive functions (n = 6) were then identified, followed by those with an impaired performance in conceptual knowledge tasks (n = 4). Among the nine remaining patients, six could be classified as having a visual spatial/visual constructional dyspraxia. Gestural production deficits were variable between and within profiles. Discussion: This study confirmed the heterogeneity of gestural production deficit among children with a diagnosis of DCD, at both intra- and inter-individual levels. The contribution of other cognitive deficits in most of the profiles allows discussing the specificity of gestural difficulties. This argues in favor of the necessity to distinguish gestural problems with other deficits made apparent through gesture.
Takotsubo cardiomyopathy in a snake bite victim: a case report
Authors: Kichiro Murase, Kenji Takagi
Journal: Pan Afr Med J (2012)
Keywords: snake bite, takotsubo cardiomyopathy
MeSH terms: Snake Bites / diagnosis, Takotsubo Cardiomyopathy / diagnosis, Case Reports, Diagnosis, Differential, Electrocardiography, Female, Humans, Middle Aged, Snake Bites / complications, Takotsubo Cardiomyopathy / etiology

Takotsubo cardiomyopathy occurs in patients with severe emotional or physiologic stress. The prognosis is usually favorable, and the left ventricular wall motion dyskinesis normalizes within days to weeks. In this paper we report a case of snake bite complicated by takotsubo cardiomyopathy. We advise physicians to consider not only cardioinhibitory effect of snake venom but also takotsubo cardiomyopathy as a differential diagnosis if the patient develops cardiac dysfunction following snake bite.
Lateral Subtalar Dislocation with Tarsometatarsal Dislocation: A Case Report of a Rare Injury
Authors: Samik Banerjee, Mostafa M Abousayed, Douglas J Vanderbrook, Kaushik Bagchi
Journal: Case Rep Orthop (2017)
MeSH terms: Case Reports

Dislocation of the fourth and fifth tarsometatarsal joints in conjunction with lateral subtalar dislocation is a rare occurrence. Little is known about the mechanism of injury, the appropriate treatment for this condition, and its ultimate prognosis. In this report, we describe this atypical presentation in a middle aged, otherwise healthy male who sustained a trivial twisting injury to the ankle when he slipped and fell on ice. Open reduction and K-wire fixation were necessary to affix the lateral tarsometatarsal and talonavicular joints. At one year postoperatively, he was able to return to his preinjury occupation with mild to moderate pain with prolonged walking. His Foot and Ankle Disability Index and American Orthopaedic Foot and Ankle Society scores were 64 and 65 points, respectively. Surgical intervention resulted in a stable plantigrade foot; however, the patient had early radiographic evidence of posttraumatic arthritis in the midfoot joints at one-year follow-up.
SPECT/CT imaging of the lumbar spine in chronic low back pain: a case report
Authors: Michael H Carstensen, Mashael Al-Harbi, Jean-Luc Urbain, Tarik-Zine Belhocine
Journal: Chiropr Man Therap (2011)

Mechanical low back pain is a common indication for Nuclear Medicine imaging. Whole-body bone scan is a very sensitive but poorly specific study for the detection of metabolic bone abnormalities. The accurate localisation of metabolically active bone disease is often difficult in 2D imaging but single photon emission computed tomography/computed tomography (SPECT/CT) allows accurate diagnosis and anatomic localisation of osteoblastic and osteolytic lesions in 3D imaging. We present a clinical case of a patient referred for evaluation of chronic lower back pain with no history of trauma, spinal surgery, or cancer. Planar whole-body scan showed heterogeneous tracer uptake in the lumbar spine with intense localisation to the right lateral aspect of L3. Integrated SPECT/CT of the lumbar spine detected active bone metabolism in the right L3/L4 facet joint in the presence of minimal signs of degenerative osteoarthrosis on CT images, while a segment demonstrating more gross degenerative changes was more quiescent with only mild tracer uptake. The usefulness of integrated SPECT/CT for anatomical and functional assessment of back pain opens promising opportunities both for multi-disciplinary clinical assessment and treatment for manual therapists and for research into the effectiveness of manual therapies.
Nontyphoidal Salmonella as a Cause of Mediastinal Abscess after Aortic Valve Replacement: A Case Report and Review of Postoperative Salmonella Infections
Authors: Natasha Spottiswoode, Michael J Peluso, Tobias Deuse, Jennifer M Babik
Journal: Case Rep Infect Dis (2018)
MeSH terms: Case Reports

Background:
Nontyphoidal Salmonella (NTS) is a pathogen that causes several human clinical illnesses, most commonly gastroenteritis. Focal infections are rare and are generally reported in the gastrointestinal and genitourinary systems. Very few studies have reported NTS abscess as a postoperative complication.
Case report:
We describe an elderly patient who developed NTS bacteremia and mediastinal abscess after aortic valve replacement.
Conclusions:
This report describes an extremely rare occurrence of an NTS mediastinal abscess complicating a surgical procedure. The patient may have acquired the pathogen from a snake kept as a family pet and likely developed bacteremia followed by seeding of the surgically damaged tissues.
As Steady as a Rock! Gaining Insight in Recruitment and Retention Among Primary School Children With Behavioural Problems in Sport Mix Club
Authors: Lotte Prevo, Maria Jansen, Dave Van Kann, Stef Kremers
Journal: Front Public Health (2022)
Keywords: behavioural problems, primary school children, recruitment, retention, self-determination theory
MeSH terms: Problem Behavior, Sports / psychology, Research Support, Non-U.S. Gov't, Child, Child, Preschool, Humans, Parents / psychology, Schools

The number of children dealing with behavioural problems is increasing. A major challenge in many health-supportive programmes is the recruitment and retention of these children. In the current study, Sport Mix Club (SMC), an approach to enhance socioemotional disorders of 4- to 12-year-old children through sport classes in municipality Vaals, the Netherlands, is used as an illustration. Where many studies faced difficulties getting and keeping children in their interventions, SMC overcame this challenge. Therefore, we decided to explore "What factors contribute to enhanced recruitment and retention procedures among children with behavioural problems in Sport Mix Club?" A qualitative case study design using the analysis of the administrative logbook of the SMC coach and trainees, individual interviews with the SMC coach, trainees (n = 2), school teachers (n = 3) and parents of participating children (n = 9), and four focus group interviews with children (n = 13) were carried out. During the recruitment and retention of SMC, the human psychological need of relatedness seemed to be of crucial value. The fact that the SMC coach: (1) made efforts to become a familiar face for children, parents and community partners beforehand; (2) showed enthusiasm; and (3) placed her focus on having fun as opposed to the children's problems, seemed to be decisive in the process of getting children to participate in SMC and retaining their participation.
Case report: The impact of percutaneous atrial septal defect closure in pulmonary hypertension with co-existing cor triatriatum sinister and multiple cardiac comorbidities
Authors: I-Hsin Tai, Tsung-Cheng Shyu, Kai-Sheng Hsieh, Ke-Wei Chen, Wan-Jane Tsai, Kuo-Yang Wang
Journal: Front Cardiovasc Med (2022)
Keywords: case report, chronic heart failure, cor triatriatum, pulmonary hypertension, transcutaneous asd closure
MeSH terms: Case Reports

Cor triatriatum sinister is a rare congenital anomaly characterized by the left-sided triatrial form of the heart. Diverse theories have been proposed regarding its formation, and the failure of incorporation of the common pulmonary vein into the left atrium (LA) during embryogenesis is the most widely accepted theory. Accordingly, cor triatriatum sinister may be associated with pulmonary venous obstruction and post-capillary pulmonary hypertension in the setting of restricted fenestration. A high proportion of patients with cor triatriatum sinister also have an associated secundum atrial septal defect. Pre-capillary pulmonary hypertension, which is unusual in patients with small atrial septal defects (<2 cm), is probably not as rare as some reports indicate, especially when combined with complex comorbidities. The conventional treatment strategy of atrial septal defect closure in patients with pulmonary hypertension, whether associated with cor triatriatum sinister or co-existing multiple cardiac anomalies, involves simultaneous repair with other cardiac surgical procedures. To the best of our knowledge, there is no reported clinical experience of percutaneous atrial septal defect closure in the literature. Herein, we present the case of an elderly female with pulmonary hypertension and coexisting cor triatriatum sinister, secundum atrial septal defect, and multiple cardiac anomalies. Despite optimal medical therapy, the biventricular failure deteriorated, and clinical stabilization could not be achieved. Transcutaneous atrial septal defect closure was then performed. Subsequent investigations showed an initial improvement (perhaps due to elimination of the left-to-right shunt) from this intervention, but the long-term impact did not appear favorable, likely due to multiple uncorrected cardiac anomalies. To the best of our knowledge, this is the first clinical report showing that partial treatment of combined pre- and post-capillary pulmonary hypertension by eliminating the pre-capillary component may have an initial benefit; thus, total surgical correction should be considered a definite therapeutic strategy unless contraindicated.
A rare case report of mid cavitary takotsubo: the role of magnetic resonance imaging
Authors: Jesse Sherratt, Carolyn E McDonald, Gerald York, Ahmad Slim
Journal: Case Rep Cardiol (2011)
MeSH terms: Case Reports

This is a case report of a female presenting originally with clinical picture of acute coronary syndrome and depressed left ventricular function with no angiographic evidence of coronary artery disease with mid cavitary akinesis and basal as well as apical hyperkinesis after emotional stresses identified by multi-imaging modalities to be mid cavitary Takotsubo. The Incidence and the prevalence of apical ballooning syndrome (Takotsubo) is on the rise with more reports in the literature; however, mid cavitary Takotsubo remains rare and raises questions more than answers as to the reason behind the mid cavitary localization in some patients versus apical involvement.
Calcification of the alar ligament of the cervical spine in a patient with rheumatoid arthritis
Authors: Rahma Boussaadani Soubai, Latifa Tahiri, Fatima Zahra Abourazzak, Siham Tizniti, Taoufik Harzy
Journal: Pan Afr Med J (2012)
Keywords: alar ligament, calcification, cervical spine
MeSH terms: Arthritis, Rheumatoid / complications, Calcinosis / diagnosis, Ligaments, Articular / pathology, Spinal Diseases / complications, Spinal Diseases / diagnosis, Case Reports, Adult, Arthritis, Rheumatoid / pathology, Atlanto-Axial Joint / pathology, Calcinosis / complications, Cervical Vertebrae / pathology, Female, Humans, Spinal Diseases / pathology

Calcification of the alar ligament is rare. It usually develops as a result of traumatic injury and is especially prominent in the elderly. CT scanning is the gold standard of the diagnosis. We report a case of a calcification of the transverse and alar ligament in a patient with rheumatoid arthritis.
Case Report: An Atypical Form of Familial Partial Lipodystrophy Type 2 Due to Mutation in the Rod Domain of Lamin A/C
Authors: Carolina Cecchetti, M Rosaria D'Apice, Elena Morini, Giuseppe Novelli, Carmine Pizzi, Uberto Pagotto, Alessandra Gambineri
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: lmna gene, cardiomyopathy, laminopathy, lipodystrophy, rod domain
MeSH terms: Genetic Association Studies, Lamin Type A / genetics, Lamins / genetics, Lipodystrophy, Familial Partial / pathology, Mutation, Missense, Case Reports, Adult, Female, Humans, Lipodystrophy, Familial Partial / genetics, Prognosis, LMNA protein, human, Lamin Type A, Lamins, lamin C protein, human

Purpose:
Familial partial lipodystrophy type 2 (FPLD2) patients generally develop a wide variety of severe metabolic complications. However, they are not usually affected by primary cardiomyopathy and conduction system disturbances, although a few cases of FPLD2 and cardiomyopathy have been reported in the literature. These were all due to amino-terminal heterozygous lamin A/C mutations, which are considered as new forms of overlapping syndromes.
Methods and results:
Here we report the identification of a female patient with FPLD2 due to a heterozygous missense variant c.604G>A in the exon 3 of the LMNA gene, leading to amino acid substitution (p.Glu202Lys) in the central alpha-helical rod domain of lamin A/C with a high propensity to form coiled-coil dimers. The patient's cardiac evaluations that followed the genetic diagnosis revealed cardiac rhythm disturbances which were promptly treated pharmacologically.
Conclusions:
This report supports the idea that there are "atypical forms" of FPLD2 with cardiomyopathy, especially when a pathogenic variant affects the lamin A/C head or alpha-helical rod domain. It also highlights how increased understanding of the genotype-phenotype correlation could help clinicians to schedule personalized monitoring of the lipodystrophic patient, in order to prevent uncommon but possible devastating manifestations, including arrhythmias and sudden death.