OpenMed/multicare-articles huggingface dataset:
Intussusception Secondary to a Meckel's Diverticulum in an Adolescent
Authors: John Morrison, Rebecca Jeanmonod
Journal: Case Rep Emerg Med (2011)
MeSH terms: Case Reports

A 13-year-old girl presented to the Emergency Department with vomiting and abdominal pain. On examination, she had only mild abdominal tenderness, but a mass was palpable in her right lower quadrant. Intussusception was diagnosed on ultrasound and confirmed on computed tomography (CT) scan, and operative findings revealed a jejunojejunal intussusception secondary to Meckel's diverticulum. Intussusception is a surgical abdominal emergency, which can present in all ages but is the most common reason for small bowel obstruction in childhood. It is a well-known cause of abdominal pain, vomiting, and bloody diarrhea in infancy but often not considered when evaluating the older child with similar symptoms. However, consideration of this diagnosis is important, as more than 1/3 of cases present beyond the age of 7. In older children, intussusception is more likely to be related to underlying pathology, such as Meckel's diverticulum, malignancy, or polyp. Intussusception should be on the differential in any patient with isolated abdominal complaints, and when it is diagnosed in an older child, it should be recognized that it is likely secondary to underlying pathology.
Liver failure due to relapsed myeloma and hepatic iron overload
Authors: Chakra P Chaulagain, Adalberto Gonzalez, Isaac Goldszer, Luis Caraballo, James E Hoffman, Leah Elson, Maria-Julia Diacovo
Journal: Ecancermedicalscience (2020)
Keywords: iron overload, liver dysfunction, liver failure, multiple myeloma
MeSH terms: Case Reports

Multiple myeloma is a hematologic malignancy that classically manifests with hypercalcaemia, renal insufficiency, anaemia and lytic bone lesions. Liver dysfunction in multiple myeloma is a lesser known complication that occurs through biliary obstruction, liver infiltration by plasma cells, amyloid/light chain deposition or due to liver injury from medications. Although transfusion-related hepatic iron overload-leading to significant liver disease-is a recognised complication in certain hematologic malignancies, little is known about transfusional iron overload in patients with multiple myeloma. We present a case of a 49-year-old female with relapsed/refractory multiple myeloma who presented with rapid onset liver failure, due to both iron deposition and malignant plasma cell infiltration of the liver as a terminal event. A review of the literature on hepatic complications in multiple myeloma patients is presented.
Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment
Authors: Alexander G Bassuk, Steven Yeh, Shu Wu, Daniel F Martin, Stephen H Tsang, Lokesh Gakhar, Vinit B Mahajan
Journal: PLoS One (2015)
MeSH terms: Calpain / genetics, Models, Molecular, Phenotype, Retinal Detachment / genetics, Uveitis / genetics, Vitreoretinopathy, Proliferative / genetics, Case Reports, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Base Sequence, Computational Biology, DNA Primers / genetics, Female, Fluorescein Angiography, Humans, Molecular Sequence Data, Mutation, Missense / genetics, Pedigree, Protein Conformation, Sequence Analysis, DNA, Tomography, Optical Coherence, DNA Primers, Calpain, Capn5 protein, human

CAPN5 mutations have been linked to autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV), a blinding autoimmune eye disease. Here, we link a new CAPN5 mutation to ADNIV and model the three-dimensional structure of the resulting mutant protein. In our study, a kindred with inflammatory vitreoretinopathy was evaluated by clinical eye examinations, DNA sequencing, and protein structural modeling to investigate the disease-causing mutation. Two daughters of an affected mother demonstrated symptoms of stage III ADNIV, with posterior uveitis, cystoid macular edema, intraocular fibrosis, retinal neovascularization, retinal degeneration, and cataract. The women also harbored a novel guanine to thymine (c.750G>T, p.Lys250Asn) missense mutation in exon 6 of CAPN5, a gene that encodes a calcium-activated cysteine protease, calpain-5. Modeling based on the structures of all known calpains revealed the mutation falls within a calcium-sensitive flexible gating loop that controls access to the catalytic groove. Three-dimensional modeling placed the new mutation in a region adjacent to two previously identified disease-causing mutations, all three of which likely disrupt hydrogen bonding within the gating loop, yielding a CAPN5 with altered enzymatic activity. This is the third case of a CAPN5 mutation leading to inherited uveitis and neovascular vitreoretinopathy, suggesting patients with ADNIV features should be tested for CAPN5 mutations. Structural modeling of novel variants can be used to support mechanistic consequences of the disease-causing variants.
Management of blunt intraperitoneal bladder rupture: Case report and literature review
Authors: Adel Elkbuli, John D Ehrhardt, Shaikh Hai, Mark McKenney, Dessy Boneva
Journal: Int J Surg Case Rep (2019)
Keywords: ct cystography, catheter-associated urinary tract infections, plain film cystography, urinary bladder rupture

Introduction:
Urinary bladder ruptures are an uncommon injury, occurring in less than 1% of all blunt abdominal trauma. Extraperitoneal bladder ruptures are generally associated with pelvic fractures and usually managed nonoperatively. Conversely, intraperitoneal injuries are often caused by large compressive and shear forces produced during seatbelt injuries and almost invariably require surgical intervention.
Presentation of case:
A 29-year-old woman presented as a trauma alert after a motor vehicle collision with abdominal/flank pain and gross hematuria. Free intraperitoneal fluid was found on ultrasound and CT imaging. Exploratory laparotomy located an intraperitoneal rupture across the bladder dome. The patient recovered without complications, was discharged on postoperative day three, and continued bladder catheter care at home for an additional week until outpatient follow up and catheter removal.
Discussion:
As evidence for surgical management of bladder trauma continues to grow, clinical practice guidelines have been developed for trauma surgeons. Recent recommendations from the Eastern Association for the Surgery of Trauma appraise the evidence for cystography in the perioperative setting. Postoperative care is focused on preventing catheter-associated urinary tract infections in patients recovering from urotrauma in the critical care setting.
Conclusion:
We present a case of intraperitoneal bladder rupture in the setting of a blunt traumatic seatbelt injury. Our patient recovered uneventfully after surgical repair, a three-day hospitalization, and ten days with an indwelling bladder catheter.
Blending Martial Arts and Yoga for Health: From the Last Samurai to the First Odaka Yoga Warrior
Authors: Matteo Di Placido
Journal: Front Sociol (2020)
Keywords: odaka yoga, health, martial arts, subtle body, yoga

This paper introduces the case study of Odaka Yoga, an innovative style of postural yoga blended with martial arts elements which emphasizes the importance of practitioners' health and processes of self-transformation as pivotal to the school's ethos. More specifically, the paper explores how Odaka Yoga's philosophical backdrops and practical repertoire, composed by a mixture of "exotic" resources such as Bushido, zen, yoga, and a constant reference to the ocean waves and biomechanics, constitute a very specific vision of health at the intersection of Western science and esoteric knowledge. Theoretically, the paper borrows from Jennings' theory of martial creation and enriches it with some of the central analytical tools proposed by theorists such as Bourdieu and Foucault. Methodologically, it relies on a multimodal approach including discursive analysis of the school's promotional materials, interviews with the founders and other key teachers, and observant participation of practitioners' apprenticeship processes. More Specifically, this paper discusses the birth of Odaka Yoga as occurring at the intersection of Asian martial arts and yoga, as well as the founders' biographical trajectories from the world of competitive martial arts and fitness, to yoga; it then turns to an examination of Odaka Yoga's conception of health as a mixture of the Western biomedical model and the subtle body model of Asian traditions such as yoga and martial arts. It argues that the conception of health promoted by this school gives rise to the Odaka Yoga Warrior, the ideal-typical practitioner whose body is simultaneously exposed to the medical gaze and its imperatives of control, knowledge, and manipulation; while it also deifies it, as it is animated by the elusive flows of energy (qi or prana) that prolonged practice aims to master. The paper concludes with a reflection on hybrid conceptions of health and the ubiquitous role of health discourses and narratives across sociocultural domains.
Cryptic aspergillosis: a rare entity and a diagnostic challenge
Authors: Lavanya R, Marilyn M Ninan, Regi Kurien, Fouzia N A, Rani D Sahni, Joy S Michael
Journal: Access Microbiol (2022)
Keywords: afst (antifungal susceptibility testing), its sequencing, maldi-tof ms (matrix-assisted laser desorption/ionization time-of-flight mass spectrometry), mec (minimum effective concentration), cryptic species
MeSH terms: Case Reports

Introduction:
Cryptic aspergillosis, caused by cryptic species of Aspergillus, is increasingly reported in humans and causes significant morbidity and mortality in immunocompromised individuals. The main aim of this study was to describe the occurrence of this entity at a large tertiary care centre and analyse the challenges in identifying them in a routine diagnostic laboratory.
Methods:
This was a retrospective case review of all patients diagnosed with cryptic Aspergillus species from April 2019 to February 2020. The isolates were identified using conventional microbiological techniques, matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI- TOF MS), 28S rRNA and internal transcribed spacer (ITS) sequencing.
Results:
The species identified were Aspergillus tamarii, Aspergillus lentulus and Aspergillus sydowii. Identification by MALDI- TOF MS and sequencing was concordant for all except A. sydowii, with MALDI- TOF MS misidentifying it as Aspergillus thermomutans. All isolates showed low minimum inhibitory concentrations (MICs) for the panel of antifungal drugs.
Conclusion:
Aspergillosis caused by cryptic Aspergillus species presents a diagnostic challenge. This study confirms the importance of molecular methods for accurate identification.
A rare loss-of-function genetic mutation suggest a role of dermcidin deficiency in hidradenitis suppurativa pathogenesis
Authors: Paola Maura Tricarico, Rossella Gratton, Carlos André Dos Santos-Silva, Ronald Rodrigues de Moura, Blendi Ura, Eduardo Sommella, Pietro Campiglia, Cecilia Del Vecchio, Chiara Moltrasio, Irene Berti, Adamo Pio D'Adamo, Ahmed M A Elsherbini, Lena Staudenmaier, Karin Chersi, Michele Boniotto, Bernhard Krismer, Birgit Schittek, Sergio Crovella
Journal: Front Immunol (2022)
Keywords: antimicrobial peptides, bacteria, dermcidin, genetics, hidradenitis suppurativa
MeSH terms: Anti-Infective Agents / metabolism, Dermcidins, Hidradenitis Suppurativa / genetics, Hidradenitis Suppurativa / metabolism, Case Reports, Research Support, Non-U.S. Gov't, Child, Female, Humans, Male, Mutation, Peptides / genetics, Peptides / metabolism, Skin / metabolism, Anti-Infective Agents, Dermcidins, Peptides

Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease with a multifactorial aetiology that involves a strict interplay between genetic factors, immune dysregulation and lifestyle. Familial forms represent around 40% of total HS cases and show an autosomal dominant mode of inheritance of the disease. In this study, we conducted a whole-exome sequence analysis on an Italian family of 4 members encompassing a vertical transmission of HS. Focusing on rare damaging variants, we identified a rare insertion of one nucleotide (c.225dupA:p.A76Sfs*21) in the DCD gene encoding for the antimicrobial peptide dermcidin (DCD) that was shared by the proband, his affected father and his 11-years old daughter. Since several transcriptome studies have shown a significantly decreased expression of DCD in HS skin, we hypothesised that the identified frameshift insertion was a loss-of-function mutation that might be associated with HS susceptibility in this family. We thus confirmed by mass spectrometry that DCD levels were diminished in the affected members and showed that the antimicrobial activity of a synthetic DCD peptide resulting from the frameshift mutation was impaired. In order to define the consequences related to a decrease in DCD activity, skin microbiome analyses of different body sites were performed by comparing DCD mutant and wild type samples, and results highlighted significant differences between the groins of mutated and wild type groups. Starting from genetic analysis conducted on an HS family, our findings showed, confirming previous transcriptome results, the potential role of the antimicrobial DCD peptide as an actor playing a crucial part in the etio-pathogenesis of HS and in the maintenance of the skin's physiological microbiome composition; so, we can hypothesise that DCD could be used as a novel target for personalised therapeutic approach.
Case Report: Exceptional Response to Nivolumab Plus Ipilimumab in a Young Woman With TFE3-SFPQ Fusion Translocation-Associated Renal Cell Carcinoma
Authors: Dylan J Martini, Caroline S Jansen, Lara R Harik, Sean T Evans, T Anders Olsen, Viraj A Master, Haydn T Kissick, Mehmet Asim Bilen
Journal: Front Oncol (2021)
Keywords: tcf1+ cd8+ t cells, combination immune checkpoint therapy, exceptional responder, intratumoral immune niche, rare malignancy, translocation-associated rcc
MeSH terms: Case Reports

Translocation-associated renal cell carcinoma (tRCC) is a rare, aggressive malignancy that primarily affects children and young adults. There is no clear consensus on the most effective treatment for tRCC and there are no biomarkers of response to treatments in these patients. We present a case of a 23 year-old female with metastatic tRCC to the lungs who was started on treatment with nivolumab and ipilimumab. She had a complete radiographic response to treatment and has been progression-free for over 18 months. Immunofluorescence imaging performed on the baseline primary tumor sample showed significant intratumoral immune infiltration. Importantly, these cells are present in niches characterized by TCF1+ CD8+ T cells. Histopathologic investigation showed the presence of lymphocytes in the fibrovascular septae and foci of lymphovascular invasion. Furthermore, lymphovascular invasion and intratumor niches with TCF1+ CD8+ T cells may predict a favorable response to treatment with nivolumab and ipilimumab. These findings have significant clinical relevance given that immune checkpoint inhibitors are approved for several malignancies and predictive biomarkers for response to treatment are lacking. Importantly, the identification of these TCF1+ CD8+ T cells may guide treatment for patients with tRCC, which is a rare malignancy without a consensus first-line treatment option.
De novo 1Mb interstitial deletion of 8p22 in a patient with slight mental retardation and speech delay
Authors: Giovanna Piovani, Giulia Savio, Michele Traversa, Alba Pilotta, Giuseppina De Petro, Sergio Barlati, Chiara Magri
Journal: Mol Cytogenet (2014)
Keywords: 8p22, deletion, developmental delay, hypotonia, sgcz, snp array, tusc3, mir-383
MeSH terms: Case Reports

We report on a nine years old girl born after 41 weeks of normal gestation with psychomotor retardation, speech delay and minimal dysmorphic signs: antimongolic cut eyes, small mouth, short philtrum and hypertelorism. The use of the high-resolution Affymetrix Human Mapping GeneChip 250 K NspI array allowed the characterization of a de novo 1Mb deletion on the short arm (p22) of a chromosome 8. Molecular cytogenetic-FISH with BAC probes (RP11) confirmed the deletion. The deleted region includes part of the sarcoglycan zeta (SGCZ) gene, involved in the sarcoglycan complex formation, and the microRNA 383. The deletion described in our patient falls 319 Kb upstream of the Tumor Suppressor Candidate 3 (TUSC3) gene. In this chromosomal region, a limited number of cases of overlapping deletions, of variable extensions and characterized by heterogeneous clinical phenotype, have been reported. The deleted region described in our patient is the smallest among those so far described in this region.
Primary Hyperparathyroidism and Hyperthyroidism in a Patient with Myotonic Dystrophy: A Case Report and Review of the Literature
Authors: Yosra Cherif, Baha Zantour, Wafa Alaya, Olfa Berriche, Samia Younes, Mohamed Habib Sfar
Journal: Case Rep Endocrinol (2015)

Various endocrine manifestations are commonly described in myotonic dystrophy (MD), including primary hypogonadism, diabetes mellitus, and thyroid and parathyroid dysfunction. We describe a 46-year-old woman with a family history of MD with her son. She was diagnosed with cardiac arrhythmia and required the implantation of a pacemaker. She was noted to have a bilateral cataract. She complained of muscle weakness, diffuse myalgia, and palpitation. The electromyography (EMG) showed myotonic discharges. Laboratory tests showed high serum calcium 2.83 mmol/L, serum phosphate 1.2 mmol/L, parathormone 362.5 pg/mL, thyroid stimulating hormone TSH 0.02 mIU/L (normal range: 0.34-5.6 mIU/L), FT4 21.17 ng/mL, and negative anti-thyroperoxidase antibodies. Cervical ultrasound revealed a multinodular goiter. The 99mTc-MIBI scintigraphy localized a lower right parathyroid adenoma. The clinical data, the family history of MD, EMG data, and endocrine disturbances were strongly suggestive of MD associated with hyperthyroidism and primary hyperparathyroidism.
A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms
Authors: Eva Hladilkova, Tuva Barøy, Madeleine Fannemel, Vladimira Vallova, Doriana Misceo, Vesna Bryn, Iva Slamova, Sarka Prasilova, Petr Kuglik, Eirik Frengen
Journal: Mol Cytogenet (2015)
Keywords: 2q13 deletion, bcl2l11, developmental delay, fbln7, facial dysmorphism, tmem87b, acgh
MeSH terms: Case Reports

We report two unrelated patients with overlapping chromosome 2q13 deletions (patient 1 in chr2:111415137-113194067 bp and patient 2 in chr2:110980342-113007823 bp, hg 19). Patient 1 presents with developmental delay, microcephaly and mild dysmorphic facial features, and patient 2 with autism spectrum disorder, borderline cognitive abilities, deficits in attention and executive functions and mild dysmorphic facial features. The mother and maternal grandmother of patient 1 were healthy carriers of the deletion. Previously, 2q13 deletions were reported in 27 patients, and the interpretation of its clinical significance varied. Our findings support that the 2q13 deletion is associated with a developmental delay syndrome manifesting with variable expressivity and reduced penetrance which poses a challenge for genetic counselling as well as the clinical recognition of 2q13 deletion patients.
Plethora of Traumatic Lesions of Bilateral Knee Extensor Mechanism in Osteogenesis Imperfecta
Authors: Peter Kloen, Reggie Charles Hamdy, Niels Hendrik Bech
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: osteogenesis imperfecta, avulsion, fracture, non-union, patella
MeSH terms: Knee Injuries / surgery, Knee Joint / surgery, Osteogenesis Imperfecta / surgery, Patella / surgery, Patellar Ligament / surgery, Case Reports, Adult, Humans, Knee Injuries / pathology, Knee Joint / pathology, Male, Osteogenesis Imperfecta / pathology, Patella / injuries, Patella / pathology, Patellar Ligament / injuries, Patellar Ligament / pathology, Prognosis

Introduction:
Injuries to the quadriceps extensor mechanism are rare in patients with Osteogenesis Imperfecta (OI). To the best of our knowledge, non-union of the patella in OI, either as an isolated problem or in combination with an acute fracture, has not been previously reported.
Case report:
We describe how we surgically approached both the fracture and the non-union simultaneously. The surgical technique and steps are described in detail. Post-operative course was uneventful and the outcome was favorable, with full return of function for the patient.
Conclusion:
A review of various knee extensor mechanism injuries in OI is described as illustrated in a single patient. The unusual simultaneous surgical treatment of a non-union and an acute fracture in the same patella shows that despite the severely compromised bone in this rare bone disease the bone still has a capacity to heal with a functional outcome.
Giant lipoma pediculated in the falciform ligament: A case report
Authors: Mostafa Sadeghi, Sajad Noorshafiee, Shaghayegh Beshtar, Paiman Rezagholy, Alireza Tavassoli
Journal: Caspian J Intern Med (2021)
Keywords: abdominal mass, ligament falciform, lipoma
MeSH terms: Case Reports

Background:
The lipoma is one of the benign soft tissue tumors that occur most in adulthood. These tumors are one of the common tumors of the limbs, and rarely occur in the abdominal cavity. These masses usually grow slowly and are asymptomatic.
Case presentation:
In this article, we present a 23-year-old woman who was referred to a doctor with complaints of abdominal pain and enlargement that occurred in the last 4 months. Following surgery and sampling, it was found that the patient had a lipoma, and the liver was a phlegmatic liver in the liver form.
Conclusion:
The recurrence and metastasis of the primary tumor histology are not always predictable, and the authors stated that all cases of individual fibrous tumors should be known as potentially malignant.
Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features
Authors: Jie Hu, Suneeta Madan-Khetarpal, Alvaro H Serrano Russi, Sally Kochmar, Stephanie J Deward, Malini Sathanoori, Urvashi Surti
Journal: Genet Res Int (2011)
MeSH terms: Case Reports

We characterized three supernumerary marker chromosomes (SMCs) simultaneously present in a 2-year- and 10-month-old male patient with mental retardation and dysmorphic features. Peripheral blood chromosome analysis revealed two to three SMCs in 25/26 cells analyzed. The remaining one cell had one SMC. Microarray comparative genomic hybridization (aCGH) showed mosaicism for gains of 5q35.3, 15q11.2q13.3, and 18p11.21q11.1 regions. All three gains contain multiple OMIM genes. FISH studies indicated that one of the SMCs is a dicentric ring 15 with two copies of the 15q11.2q13.3 region including SNRPN/UBE3A and two copies of the 5q35.3 region. One of the der(18)s contains the 18 centromere and 18p11.2 regions, while the other der(18) has a signal for the 18 centromere only. The phenotype of the patient is compared with that of patients with tetrasomy 15q11.2q13.3, trisomy 5q35.3, and trisomy 18p11.2. Our study demonstrates that aCGH and FISH analyses are powerful tools, which complement the conventional cytogenetic analysis for the identification of SMCs.