OpenMed/multicare-articles huggingface dataset:
How to integrate wet lab and bioinformatics procedures for wine DNA admixture analysis and compositional profiling: Case studies and perspectives
Authors: Rita Vignani, Pietro Liò, Monica Scali
Journal: PLoS One (2019)
MeSH terms: Microsatellite Repeats, Vitis / classification, Wine / analysis, Research Support, Non-U.S. Gov't, Computational Biology, DNA Fingerprinting, DNA, Plant / genetics, Genetic Markers, Phylogeny, Principal Component Analysis, Vitis / genetics, Wine / standards, DNA, Plant, Genetic Markers

The varietal authentication of wines is fundamental for assessing wine quality, and it is part of its compositional profiling. The availability of historical, cultural and chemical composition information is extremely important for quality evaluation. DNA-based techniques are a powerful tool for proving the varietal composition of a wine. SSR-amplification of genomic residual Vitis vinifera DNA, namely Wine DNA Fingerprinting (WDF) is able to produce strong, analytical evidence concerning the monovarietal nature of a wine, and for blended wines by generating the probability of the presence/absence of a certain variety, all in association with a dedicated bioinformatics elaboration of genotypes associated with possible varietal candidates. Together with WDF we could exploit Bioinformatics techniques, due to the number of grape genomes grown. In this paper, the use of WDF and the development of a bioinformatics tool for allelic data validation, retrieved from the amplification of 7 to 10 SSRs markers in the Vitis vinifera genome, are reported. The wines were chosen based on increasing complexity; from monovarietal, experimental ones, to commercial monovarietals, to blended commercial wines. The results demonstrate that WDF, after calculation of different distance matrices and Neighbor-Joining input data, followed by Principal Component Analysis (PCA) can effectively describe the varietal nature of wines. In the unknown blended wines the WDF profiles were compared to possible varietal candidates (Merlot, Pinot Noir, Cabernet Sauvignon and Zinfandel), and the output graphs show the most probable varieties used in the blend as closeness to the tested wine. This pioneering work should be meant as to favor in perspective the multidisciplinary building-up of on-line databanks and bioinformatics toolkits on wine. The paper concludes with a discussion on an integrated decision support system based on bioinformatics, chemistry and cultural data to assess wine quality.
Herpes Zoster Ophthalmicus in a Healthy Toddler Fully Immunized Against Varicella-Zoster Virus: A Case Report and Review of Treatment Strategies in Children
Authors: Paraskevi Keramida, Marita Antoniadi, Eugenia Archimandritou, Stavroula Kostaridou, Patra Koletsi
Journal: Cureus (2023)
Keywords: herpes zoster ophthalmicus, herpes zoster virus, hzo, paediatric uveitis, treatment choices, varicella-zoster virus
MeSH terms: Case Reports

Herpes zoster ophthalmicus (HZO) is a rare presentation of herpes zoster in children; however, it may become chronic and debilitating. The pathophysiology of HZO complications is not completely understood and may include virus virulence, vascular and neural inflammation and immune reactivity. Therefore, clinical experts suggest an antiviral agent combined with topical steroids, but treatment duration and the need for secondary prophylaxis, given the likelihood of recurrence, are not clearly defined. We present a complex case of HZO in a varicella zoster virus (VZV)-vaccinated toddler successfully treated with acyclovir and topical steroids. We also present a review of the relevant literature regarding the therapeutic management and long-term sequelae of HZO in children.
Peripheral cemento-ossifying fibroma: case series literature review
Authors: Esha Verma, Arunkumar Bhimashankar Chakki, Sharanbasappa Chandrashekar Nagaral, Kiran Kumar Ganji
Journal: Case Rep Dent (2013)

THE CONCEPT OF FIBROOSSEOUS LESIONS OF BONE HAS EVOLVED OVER THE LAST SEVERAL DECADES AND NOW INCLUDES TWO MAJOR ENTITIES: fibrous dysplasia and ossifying fibroma. Peripheral cemento-ossifying fibroma is a relatively rare tumour classified between fibroosseous lesions. It predominantly affects adolescents and young adults, with peak prevalence between 10 and 19 yrs. The cemento-ossifying fibroma is a central neoplasm of bone as well as periodontium which has caused considerable controversy because of confusion regarding terminology and the criteria for its diagnosis. The cemento-ossifying fibroma is odontogenic in origin, whereas ossifying fibroma is of bony origin. Lesions histologically similar to peripheral ossifying fibroma have been given various names in existing literature. Therefore, we present and discuss in this paper a series of cases of peripheral cemento-ossifying fibroma emphasizing the differential diagnosis.
Cavernous hemangioma of the bladder: an additional case managed by partial cystectomy and augmentation cystoplasty
Authors: Mounir Lahyani, Amine Slaoui, Nabil Jakhlal, Tarik Karmouni, Khalid Elkhader, Abdellatif Koutani, Ahmed Ibn Attya Andaloussi
Journal: Pan Afr Med J (2015)
Keywords: hemangioma, bladder, diagnosis, partial cystectomy, treatment
MeSH terms: Cystectomy / methods, Hemangioma, Cavernous / pathology, Urinary Bladder Neoplasms / pathology, Case Reports, Cystoscopy / methods, Hemangioma, Cavernous / diagnosis, Hemangioma, Cavernous / surgery, Humans, Middle Aged, Urinary Bladder / pathology, Urinary Bladder Neoplasms / diagnosis, Urinary Bladder Neoplasms / surgery

Cavernous Hemangioma of the Bladder (CHB) is benign and rare lesions. Clinical presentation has no pathognomonic signs although gross painless hematuria is the most frequent complain. CHB is suspected by cystoscopy and radiologic findings and confirmed by pathologic examinations. Management is controversial due to the bleeding risk of this highly vascularized lesion. Partial cystectomy is the treatment of choice for surgically accessible lesions. However, it appears that small lesions could be treated using transurethral resection. Since CHB is a rare case, we report another case treated successfully with a partial cystectomy associated with an augmentation cystoplasy.
Identification of a New Variant in NLRP3 Gene by Whole Exome Sequencing in a Patient with Cryopyrin-Associated Periodic Syndrome
Authors: Mahdieh Vahedi, Nima Parvaneh, Saeedeh Vahedi, Mohammad Shahrooei, Vahid Ziaee
Journal: Case Reports Immunol (2021)
MeSH terms: Case Reports

Background:
NLRP3 gene is located in chromosome 1 and encodes a pyrin-like protein. Mutations in this gene are associated with an autoinflammatory disease, called cryopyrin-associated periodic syndrome (CAPS). Case Presentation. We report a 1-year-old boy who had recurrent urticarial rash since birth and joint pain and swelling. He had a missense mutation c.G1060 T (p.A354S) in exon 5 of the NLRP3 gene which was detected by whole exome sequencing.
Conclusion:
A novel variant was found in the NLRP3 gene which has not been reported by now.
A Novel Mutation of VPS 33 B Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype
Authors: Eleni Agakidou, Charalampos Agakidis, Marios Kambouris, Nicoleta Printza, Maria Farini, Elina Vourda, Spyridon Gerou, Kosmas Sarafidis
Journal: Case Rep Genet (2020)
MeSH terms: Case Reports

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is an autosomal recessive disorder caused by mutations of the VPS33B encoding the vacuolar protein sorting 33B (VPS33B), which is involved in the intracellular protein sorting and vesicular trafficking. We report a rare case of ARC syndrome without arthrogryposis caused by a novel mutation of VPS33B. A female patient of Greek origin presented on the 14th day of life with renal tubular acidosis, Fanconi syndrome, nephrogenic diabetes insipidus, and cholestasis with normal gamma-glutamyl transpeptidase, without arthrogryposis and dysmorphic features. She was born to apparently healthy, nonconsanguineous parents. Additional features included dry and scaling skin, generalized hypotonia, hypoplastic corpus callosum, neurodevelopmental delay, failure to thrive, short stature, recurrent febrile episodes with and without infections, and gastrointestinal bleeding. DNA testing revealed that the patient was homozygous for the novel c.1098_1099delTG (p.Glu367Alafs∗17) mutation of exon 14 of VPS33B gene (NM_018668) on chromosome 15q26.1, leading to a nonsense frameshift variant of VPS33B with premature termination of translation. Her parents were heterozygous for the same VPS33B mutation. The prognosis was predictably poor in the context of the intractable polyuria necessitating long-term parenteral fluid administration via indwelling central catheter leading to catheter-related sepsis, to which she eventually succumbed at the age of 7 months. This is the first published VPS33B mutation in an ARC patient of Greek origin. The current case adds to the spectrum of ARC-associated VPS33B mutations and provides evidence supporting the existence of incomplete ARC phenotype. Increased awareness and early genetic testing for ARC are suggested in cases with isolated cholestasis and/or renal tubular dysfunction, even in the absence of arthrogryposis.
Rupture of distal anterior cerebral artery aneurysm presenting only subdural hemorrhage without subarachnoid hemorrhage: a case report
Authors: Tae-Wook Song, Sung-Hyun Kim, Seung-Hoon Jung, Tae-Sun Kim, Sung-Pil Joo
Journal: Springerplus (2016)
Keywords: ruptured aneurysm, spontaneous subdural hematoma, subarachnoid hemorrhage

Intracranial aneurysm rupture usually manifests with subarachnoid hemorrhage, often combined with intracerebral hemorrhage with intraventricular hemorrhage extension. In rare cases, however, these aneurysms present only as subdural hematomas. Recently, we treated a 48-years-old female patient who presented only with subdural hematoma. Interestingly, she did not have a history of trauma. Computed tomography angiography and digital subtraction angiography revealed a 5 × 3 mm sized aneurysm at the A3-A4 junction of the left anterior cerebral artery. On admission, emergency operation (clipping and hematoma evacuation) was performed to protect against re-bleeding. Along with postoperative intensive care, the patient returned to normal daily life with only a mild headache. Given that patients may present with atraumatic acute subdural hematoma, the clinician must bear in mind the possibility of intracranial vascular pathology and obtain angiographic scans to evaluate for any underlying conditions to prevent patient deaths.
Insulinoma masquerading as a loss of consciousness in a teenage girl: case report and literature review
Authors: Meghana Gudala, Mahmuda Ahmed, Rushika Conroy, Ksenia Tonyushkina
Journal: Int J Pediatr Endocrinol (2017)
Keywords: adolescents, hypoglycemia, insulinoma
MeSH terms: Case Reports

Background:
Hypoglycemia due to a pancreatic beta cell neoplasm - insulinoma, is uncommon with only a few cases described. We report on a previously healthy 15-year-old Hispanic female with insulinoma who presented with a loss of consciousness due to hypoglycemia unawareness.
Case presentation:
EM was first brought to the emergency department (ED) after she was found unresponsive at home with point of care (POC) glucose of 29 mg/dL(1.6 mmol/L) documented by emergency medical services (EMS) upon arrival. After treatment with dextrose and normal laboratory evaluation, including complete blood count, basal metabolic profile and urine drug screen, she was sent home with recommendations to follow-up the next day with an endocrinologist. Due to insurance issues, the family did not keep the appointment. Two days later, she returned to the ED with POC of 19 mg/dL (1.05 mmol/L). Detailed history review identified vague fatigue, excessive sleepiness, poor oral intake and weight gain for a 2-3 month period and no suspicion for drug, alcohol or prescription medication abuse. Family history of multiple endocrine neoplasia was negative. Physical examination revealed mild acanthosis nigricans and a body mass index of 32.8 kg/m2 (98th percentile). Laboratory evaluation showed elevated insulin with low cortisol and growth hormone levels at the time of hypoglycemia. Abdominal magnetic resonance imaging revealed a pancreatic mass, also supported by ultrasound, computed tomography and positron emission tomography scans. The patient underwent a partial pancreatectomy with removal of a well-circumscribed insulinoma from the anterior-superior aspect of the pancreatic neck confirmed by histology. Hypoglycemia resolved post-operatively and she remained euglycemic during a 48-h cure fast. At her 3-month follow-up visit, she had no symptoms of hypoglycemia.
Conclusion:
Documented hypoglycemia in an otherwise healthy adolescent should be fully investigated before discharging a patient. Even a short duration of symptoms should prompt, in-depth diagnostic evaluations to rule out a potentially life threatening diagnosis of insulinoma.
A Case of Granulomatosis with Polyangiitis with Various Breast Lesions as the Initial Symptoms: A Case-Based Review
Authors: Masatoshi Kawataka, Toshiki Kido, Reina Tsuda, Takafumi Onose, Ryoko Asano, Miho Yamazaki, Naonori Sugishita, Hiroyuki Hounoki, Toshiko Kakiuchi, Koichiro Shinoda, Kazuyuki Tobe
Journal: Case Rep Rheumatol (2021)
MeSH terms: Case Reports

A 44-year-old woman presenting with pus-like discharge from the nipples visited our hospital for scleritis. Subcutaneous induration and ulceration were found on her breast. She was diagnosed with granulomatosis with polyangiitis (GPA) considering scleritis, sinusitis, cutaneous granuloma formation, and antiproteinase 3-antineutrophil cytoplasmic antibodies and was successfully treated with glucocorticoids. Fifteen months later, she developed pulmonary consolidation and a right breast nodule. Biopsies of the breast nodule showed granulomatous vasculitis, and she was treated with rituximab. While breast involvement in GPA is rare, unilateral breast mass is a typical clinical feature; thus, GPA should be considered in such cases.
Case report: Intra-abdominal aggressive fibromatosis: A rare cause of hyperemesis
Authors: Zilin Zou, Guannan Ye, Saiqun Xu, Wei Liu, Weining Wang
Journal: Front Surg (2023)
Keywords: apc, aggressive fibromatosis (af), case report, desmoid-type fibromatosis, hyperemesis
MeSH terms: Case Reports

Rationale:
Aggressive fibromatosis is a rare and locally infiltrative monoclonal fibroblastic proliferation with lack of metastatic potential. We describe a rare case of intra-abdominal aggressive fibromatosis on young female with hyperemesis.
Patient concerns:
A 23-year-old female was admitted with hyperemesis and loss of weight.
Diagnoses:
According to imaging findings and immunohistology findings, a diagnosis of intra-abdominal aggressive fibromatosis was formulated.
Outcomes:
After the surgery, no evidence of local recurrence was noted during the 6 months of follow-up.
Lessons:
AF may explain why pregnant women may have severe hyperemesis.
A Rare Case of Fungal Burn Wound Infection Caused by Fusarium solani in Vietnam
Authors: Que Anh Tram, Nguyen Thai Ngoc Minh, Do Ngoc Anh, Nguyen Nhu Lam, Tran Ngoc Dung, Ngo Thi Minh Chau, Le Tran-Anh
Journal: J Investig Med High Impact Case Rep (2020)
Keywords: fusarium solani, vietnam, fungal wound infection, fusariosis
MeSH terms: Fusariosis / drug therapy, Fusariosis / microbiology, Fusarium / isolation & purification, Wound Infection / drug therapy, Wound Infection / microbiology, Case Reports, Antifungal Agents / pharmacology, Burns / complications, Humans, Male, Microbial Sensitivity Tests, Treatment Outcome, Vietnam, Young Adult, Antifungal Agents, Fusarium solani

A patient with extensive burn injuries was admitted to the National Hospital of Burns in Hanoi, Vietnam, and diagnosed with fungal wound infection by histological examination of skin biopsy samples. Fusarium solani was isolated and identified by analysis of its morphological features and the sequence of the internal transcribed spacer region. The isolation showed in vitro resistant to fluconazole, voriconazole, itraconazole, amphotericin B, and caspofungin. Invasive fusariosis is difficult to treat due to its angioinvasive property and its lacking amenability to treatment with antifungal drugs. This infection is rare and has not been reported so far in Vietnam.
Community-Acquired Cavitary Pseudomonas Pneumonia Linked to Use of a Home Humidifier
Authors: Eric Woods, Gabriel Cohen, Eric Bressman, David Lin, Nathalie E Zeitouni, Colleen Beckford, Camille Hamula, Harm van Bakel, Mitchell Sullivan, Deena R Altman, Daniel Caplivski
Journal: Case Rep Infect Dis (2017)
MeSH terms: Case Reports

Pseudomonas aeruginosa is an opportunistic pathogen that rarely causes pneumonia in otherwise healthy patients. We describe a case of community-acquired P. aeruginosa pneumonia in a previously healthy individual who likely acquired the infection from a home humidifier.
Case Report: Non-ossifying fibromas with pathologic fractures in a patient with NONO-associated X-linked syndromic intellectual developmental disorder
Authors: Karin Writzl, Blaž Mavčič, Aleš Maver, Alenka Hodžić, Borut Peterlin
Journal: Front Genet (2023)
Keywords: nono, x-linked intellectual disability syndrome, left ventricular non-compaction cardiomyopathy, non-ossifying fibromas, recurrent fractures, thrombocytopenia
MeSH terms: Case Reports

The NONO gene encodes a nuclear protein involved in transcriptional regulation, RNA synthesis and DNA repair. Hemizygous loss-of function, de novo or maternally inherited variants in NONO have been associated with an X-linked syndromic intellectual developmental disorder-34 (OMIM # 300967), characterized by developmental delay, intellectual disability, hypotonia, macrocephaly, elongated face, structural abnormalities of corpus callosum and/or cerebellum, congenital heart defect and left ventricular non-compaction cardiomyopathy. Few patients have been described in the literature and the phenotype data are limited. We report a 17-year-old boy with dolihocephaly, elongated face, strabismus, speech and motor delay, intellectual disability, congenital heart defect (ASD, VSD and Ebstein's anomaly), left ventricular non-compaction cardiomyopathy, bilateral inguinal hernia and cryptorchidism. Additional features included recurrent fractures due to multiple non-ossifying fibromas, thrombocytopenia, and renal anomalies. Exome sequencing revealed a de novo pathogenic variant (NM_001145408.2: c.348+2_ 348+15del) in intron 5 of the NONO gene. Renal anomalies and thrombocytopenia have been rarely reported in patients with NONO-X-linked intellectual disability syndrome, while recurrent fractures due to multiple non-ossifying fibromas have not previously been associated with this syndrome. The phenotypic spectrum of NONO-X-linked intellectual disability syndrome may be broader than currently known.
Persistent Cutibacterium (Formerly Propionibacterium) acnes Bacteremia and Refractory Endocarditis in a Patient with Retained Implantable Pacemaker Leads
Authors: M Freedman, J O Aflatooni, R Foster, P G Haggerty, C J Derber
Journal: Case Rep Infect Dis (2020)
MeSH terms: Case Reports

Cutibacterium (formerly Propionibacterium) acnes (C. acnes) is a commensal bacteria commonly found on the human skin and in the mouth. While the virulence of C. acnes is low in humans, it does produce a biofilm and has been identified as an etiologic agent in a growing number of implant-associated infections. C. acnes infections can prove diagnostically challenging as laboratory cultures can often take greater than 5 days to yield positive results, which are then often disregarded as contaminant. Patients with recurrent bacteremia in the setting of implantable devices warrant further studies to evaluate for an associated valvular or lead endocarditis. The patient in this report demonstrates how cardiac device-related endocarditis secondary to C. acnes can be overlooked due to the indolent nature of this pathogen. This patient presented with an implanted cardiac pacemaker device, as well as retained leads from a prior pacemaker. Transesophageal echocardiography was required to confirm the diagnosis in the setting of multiple positive blood cultures and negative transthoracic echocardiograms over a period of 4 years. The purpose of this report is to highlight the difficulties encountered in diagnosing C. acnes endocarditis in a patient with a cardiac implantable electronic device and persistently positive blood cultures.
Acute Onset of Exogenous Endophthalmitis after Dexamethasone Implant Injection Treated without Implant Removal
Authors: George G Bastakis, Anastasios Stavrakakis, Avgoustinakis Nikolaos, Dimitris Dimopoulos, George Pappas
Journal: Case Rep Ophthalmol Med (2018)
MeSH terms: Case Reports

We present a case of acute endophthalmitis after intravitreal dexamethasone implant injection and discuss the management of this rare and challenging case in which the implant could not be removed. A 50-year-old woman with a history of branch retinal vein occlusion in the right eye was treated with intravitreal dexamethasone implant injection for macular oedema. Four days after injection, the patient was admitted to the department with acute pain, decreased vision, and redness. A diagnosis of acute post-intravitreal injection endophthalmitis was made. A 23-guage (23G) vitrectomy was performed immediately to remove the implant, and a vitreous tap for culture and polymerase chain reaction was acquired during the procedure. We were unable to remove the dexamethasone implant during the vitrectomy because of dense membrane formation. At the end of the procedure, we injected intravitreal antibiotics (vancomycin and amikacin), and the patient was treated with fortified topical antibiotics and steroids. At the time of writing, 5 years later, the patient retains a best corrected visual acuity of 10/10 (6/6) with dexamethasone implant therapy maintenance. Intravitreal dexamethasone implant-associated endophthalmitis is a rare and challenging condition. Immediate 23G pars plana vitrectomy, even without removal of the implant, can lead to favourable visual results.
Anatomic reconstruction for major tissue loss following abdominoplasty: A case report
Authors: Vladislav Pavlovich Zhitny, Noama Iftekhar, Barry Zide, Frank Stile
Journal: Int J Surg Case Rep (2020)
Keywords: abdominoplasty, case report, cosmetic surgery, plastic surgery, skin flap necrosis, tummy tuck
MeSH terms: Case Reports

Introduction:
Abdominoplasty is currently one of the most widely requested cosmetic procedures in the United States. There is limited literature describing the corrective measures following skin loss from a flap necrosis due to an abdominoplasty complication.
Methods:
A 53-year-old female presented with a large split thickness skin graft due to skin loss as a necrotic complication from an abdominoplasty performed at our center. The patient suffered from emotional stress related to the abdominal deformity, which included a lack of an umbilicus.
Results:
Patient recovered well post-operatively. She required two procedures - the initial procedure involved excision of the skin graft and closure with the patient's own full-thickness skin and tissue. The second procedure, which occurred six months later, involved the creation of an umbilical stalk from a small cuff of skin.
Conclusion:
Abdominoplasty, although sought for cosmetic purposes, is indeed a major procedure and can result in complications especially from aggressive liposculpture. When complications do occur, revisions are indeed possible with aesthetically pleasing results.
Rhomboid blepharoplasty and cryotherapy for the treatment of a squamous cell carcinoma on the lower eyelid in a horse
Authors: Emily C Jeanes, Sarah Koll-Hampp, Charlotte Dawson, Bettina Dunkel, Roser Tetas Pont
Journal: Clin Case Rep (2018)
Keywords: blepharoplasty, equine, rhomboid flap, squamous cell carcinoma
MeSH terms: Case Reports

A rhomboid blepharoplasty can be used to achieve functional and cosmetic eyelid reconstruction at the medial canthus in the horse. Combination of a rhomboid blepharoplasty with cryotherapy is a treatment option for eyelid ocular squamous cell carcinomas.