OpenMed/multicare-articles huggingface dataset:
Case report: A de novo ERBB3 mutation develops in a gallbladder cancer patient carrying BRCA1 mutation after effective treatment with olaparib
Authors: Jing-Xiao Yang, Zi-Yao Jia, Fa-Tao Liu, Wen-Guang Wu, Xue-Chuan Li, Lu Zou, Huai-Feng Li, Fei Zhang, Run-Fa Bao, Shu-You Peng, Wan Yee Lau, Yun Liu, Mao-Lan Li, Ying-Bin Liu
Journal: Front Oncol (2023)
Keywords: conversion therapy, drug resistance, dual targeted drugs therapy, gallbladder cancer, olaparib
MeSH terms: Case Reports

Background:
Gallbladder cancer (GBC) is highly lethal and resistant to most chemotherapeutic drugs. GBC was reported to carry multiple genetic mutations such as TP53, K-RAS, and ERBB2/3. Here, we unexpectedly identified a patient with GBC harboring germline BRCA1 p.Arg1325Lys heterozygous mutation. We sought to determine if olaparib, the poly ADP-ribose polymerase inhibitor (PARPi) commonly treated for BRCA mutation, can inhibit cancer development via a therapeutic trial on this patient.
Case presentation:
The patient received GBC R0 resection after an 8-week olaparib treatment. After surgery and 6-month follow-up treatment with olaparib, the patient's blood carbohydrate antigen 19-9 (CA19-9) level declined from 328 to 23.6 U/ml. No recurrence in CT scanning was observed, indicating a disease-free survival of 6 months with conventional therapy. Two months later, CT examination and CA19-9 level showed cancer relapse. A blood biopsy revealed a new ERBB3 p.Gly337Arg mutation. GBC cell lines ectopically expressing BRCA1 p.Arg1325Lys together with ERBB3 p.Gly337Arg mutations were challenged with olaparib and/or afatinib, an ERBB2/3 inhibitor. The dual mutation cells were more responsive to the combined olaparib with afatinib than a single drug in the cell proliferation assay.
Conclusion:
Olaparib is effective in a GBC patient with a BRAC1 mutation. The efficacy of olaparib and afatinib in both cultured BRAC1 and ERBB3 mutation cell lines suggests that a combined regimen targeting BRCA1/2 and ERBB2/3 mutations may be an optimal strategy to treat GBC patients who carry both gene mutations.
A Case of Tumor of Follicular Infundibulum Involving the Vulva
Authors: Victor Santiago, David Cartwright, Pooria Khoshnoodi, Molly Klein, Alessio Giubellino
Journal: Case Rep Pathol (2019)
MeSH terms: Case Reports

Tumor of the follicular infundibulum or infundibuloma is a relatively rare benign adnexal tumor usually solitary and located in the head, neck, and trunk. Here we present a 70-year-old woman with a tender vulvar lesion. Histopathologic exam shows a well-circumscribed lesion with a subepidermal horizontally oriented, plate-like proliferation of pale appearing squamous epithelial cells with numerous points of connections with the overlying epidermis and peripheral palisading. Overall these histopathologic features are consistent with the diagnosis of tumor of follicular infundibulum involving genital skin.
Case Report: Solitary mastocytoma treated successfully with topical tacrolimus
Authors: M S Sukesh, Ameet Dandale, Rachita Dhurat, Ankur Sarkate, Smita Ghate
Journal: F1000Res (2014)

Solitary mastocytoma, a rare dermatological entity accounts for 10-15% of cutaneous mastocytosis. We report a rare case of solitary mastocytoma presenting at birth, treated successfully with topical tacrolimus. Along with reassurance and strict avoidance of triggering factors, no recurrence was reported within the one year follow-up period.
Triple Threat: Three Primary Malignancies Simultaneously Involving Three Genitourinary Organs
Authors: Katharina Mitchell, Reima El Naili, Lakshmikumar Pillai, Eric Mark Lopez, John Riordan, Wallis Marsh, Adam Luchey, Ali Hajiran
Journal: Case Rep Urol (2023)
MeSH terms: Case Reports

Statistically, the chance of having concurrent renal cell carcinoma (RCC), urothelial carcinoma of the bladder (UC), and a neuroendocrine tumor (NET) of the renal parenchyma is less than one in a trillion. Herein, we describe an unusual case of a 67-year-old female who presented with bilateral flank pain and severe gross hematuria. Cross-sectional imaging revealed two large heterogeneous, endophytic renal masses with a single enlarged paracaval lymph node. Diagnostic cystoscopy was performed for completion of gross hematuria evaluation and revealed a concurrent papillary bladder tumor. Percutaneous biopsies of bilateral renal masses revealed clear cell RCC involving the left kidney and well-differentiated NET involving the right kidney, and transurethral resection of the bladder tumor revealed high-grade nonmuscle invasive urothelial carcinoma. The patient elected to undergo bilateral nephroureterectomy, radical cystectomy, and retroperitoneal and pelvic lymphadenectomy. Final pathology confirmed the presence of three different malignancies: noninvasive high-grade papillary UC of the bladder (pTaN0), left renal clear cell RCC (pT2bN0), right renal well-differentiated NET, and a single paracaval lymph nodes positive for metastatic NET (pT2aN1).
Atraumatic Isolated Stress Fracture of the Distal Tibial Metaphysis in a Pre-menopausal Patient: A Case Report
Authors: Mohammad Daher, Dany Aouad, Rabih Kortbawi, Rami Ayoubi, Chawki Kortbawi
Journal: Cureus (2023)
Keywords: atraumatic, distal tibia, pre-menopausal, stress fractures, tibial metaphysis
MeSH terms: Case Reports

Stress fractures are partial or complete bone fractures usually occurring in the weight-bearing bones resulting from repeated cycles of submaximal stress and bone remodeling. When the tibia is involved, it usually affects the proximal or middle third part of the bone. This pathology is most often seen in athletes or related to traumatic activities. This case describes a healthy, pre-menopausal, non-athlete woman presenting with a distal tibial atraumatic stress fracture. Diagnosis is usually confirmed by a CT scan or MRI since radiographs could often show no abnormalities. Treatment of such fractures is conservative in the majority of cases and when present, predisposing or causative factors should also be investigated and assessed.
Can inhaled foreign body mimic asthma in an adolescent?
Authors: Alessandro Bodini, Luca Pecoraro, Filippo Catalano, Melodie Olivia Aricò, Laura Tenero, Michele Piazza, Giorgio Piacentini
Journal: Pan Afr Med J (2020)
Keywords: foreign body aspiration, adolescent, asthma, bronchoscopy, cough, differential diagnosis
MeSH terms: Asthma / diagnosis, Bronchoscopy, Foreign Bodies / diagnosis, Case Reports, Adolescent, Foreign Bodies / complications, Humans, Male, Respiratory Aspiration / complications, Respiratory Aspiration / diagnosis

A 14 year old male was diagnosed with asthma but didn't improve with appropriate inhalation therapy. Rigid bronchoscopy revealed a food fragment, almost completely occluding the lower-left bronchus lumen. Based on the reported history, it had been likely there for several years.
The Glucose-Lowering Effects of Coconut Oil: A Case Report and Review of the Literature
Authors: Samar Malaeb, Christopher Spoke
Journal: Case Rep Endocrinol (2020)
MeSH terms: Case Reports

Background:
Coconut oil, a saturated fat comprised mostly of the medium-chain fatty acid, lauric acid, has become increasingly popular over the past few decades due to its touted anti-inflammatory, metabolic, and lipid-lowering properties. There have been many studies with mixed results evaluating the effects of coconut oil consumption on lipid metabolism and cardiometabolic risk. However, the effects on glucose metabolism are less clear. There are few trials on the effects of coconut oil on glucose homeostasis but no case reports prior to the current one.
Case:
We present a case of a 66-year-old man with a history of type 2 diabetes managed with insulin who developed recurrent hypoglycemia and required reduction in insulin therapy quickly after consuming coconut oil supplementation.
Conclusion:
This is the first known case report of coconut oil supplementation in a diabetic patient on insulin resulting in hypoglycemia. Review of the literature shows that coconut oil supplementation can have a favorable effect on glycemic control, possibly through phenolic compounds mediating anti-inflammatory effects. This effect is inconsistent throughout the studies reviewed, likely due to variations in types of coconut oil supplementation and scarcity of trials. Further research is required both in animal models and in humans before coconut oil intake is widely advised and popularized. This is especially true in patients with diabetes, who are at increased risk of cardiovascular disease, and in whom reduction in saturated fat intake is advised.
PAX6 analysis of two sporadic patients from southern China with classic aniridia
Authors: Ying Lin, Xialin Liu, Shanshan Yu, Lixia Luo, Xuanwei Liang, Zhonghao Wang, Chuan Chen, Yi Zhu, Shaobi Ye, Hong Yan, Yizhi Liu
Journal: Mol Vis (2012)
MeSH terms: Aniridia / genetics, Asian People / genetics, Eye Proteins / genetics, Frameshift Mutation, Homeodomain Proteins / genetics, Nystagmus, Congenital / genetics, Paired Box Transcription Factors / genetics, Repressor Proteins / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, Aniridia / complications, Base Sequence, Child, Exons, Female, Genotype, Heterozygote, Humans, Male, Molecular Sequence Data, Nystagmus, Congenital / complications, PAX6 Transcription Factor, Pedigree, Phenotype, Eye Proteins, Homeodomain Proteins, PAX6 Transcription Factor, PAX6 protein, human, Paired Box Transcription Factors, Repressor Proteins

Purpose:
To investigate the paired box 6 (PAX6) gene in two sporadic patients from southern China presenting with classic aniridia.
Methods:
The two sporadic patients underwent complete physical and ophthalmic examinations. Genomic DNA was extracted from the leukocytes of the peripheral blood collected from the families of the two sporadic patients and 100 unrelated control subjects from the same population. Exons 4-13 of PAX6 were amplified by polymerase chain reaction (PCR) and sequenced directly. The ophthalmic examinations included best-corrected visual acuity, slit-lamp examination, fundus examination, optical coherence tomography, and Pentacam and Goldmann perimetry.
Results:
The two patients were affected with aniridia accompanied by nystagmus. A heterozygous PAX6 frameshift mutation in exon 7, c.375_376delAG (p.Arg125SerfsX7), was identified in sporadic patient 1 and not in any of the unaffected family members and normal controls. One novel mutation in exon 10, c.868_871dupAGTT (p.Phe291X), was detected in sporadic patient 2. The frameshift mutation we identified has not previously been reported either in China or abroad.
Conclusions:
Although PAX6 mutations and polymorphisms have been reported in various ethnic groups, we report, for the first time, the identification of one new PAX6 mutation in Chinese aniridia patient.
Case Report: Novel Compound-Heterozygous Variants of SKIV2L Gene that Cause Trichohepatoenteric Syndrome 2
Authors: Qiao Zhang, Xia Qian, Jianli Zhou, Lin Han, Shaoming Zhou, Zhaoxia Wang
Journal: Front Genet (2021)
Keywords: skiv2l gene, intractable diarrhea, pediatrics, trichohepatoenteric syndrome (thes) 2, whole-exome sequencing (wes)
MeSH terms: Case Reports

Background: Trichohepatoenteric syndrome (THES) is a rare disease that mainly causes intractable diarrhea. It is classified into THES1 and THES2, which are associated with the tetratricopeptide repeat domain 37 (TTC37) gene and Ski2-like RNA helicase (SKIV2L) gene, respectively. THES is not very prevalent in China or worldwide, but new cases have increasingly been reported. Methods and Results: Here, we report the clinical and genetic information of a 1.5-month-old girl who was admitted to our hospital due to diarrhea and failure to thrive. Whole-exome sequencing (WES) revealed novel compound-heterozygous variants of the SKIV2L gene, c.3602_3609delAGCGCCTG (p.Q1201Rfs*2), and c.1990A > G (p.T664A) as the causative factors, which were confirmed via Sanger sequencing. Upon continuous feeding with an amino-acid formula through a gastric tube and parenteral nutrition, the patient resumed thriving and her stool frequency decreased. Conclusion: We report a girl carrying novel variants of the SKIV2L gene that cause THES2, thereby providing valuable information on the diagnosis of THES2 and expanding the spectrum of disease-causing SKIV2L mutations.
Unilateral Straight Hair-A Symptom of Acquired Horner's Syndrome in a Neonate
Authors: Chantal Ott, Andrei Bobylev, Stefan Gerhard Holland-Cunz, Johannes Mayr
Journal: European J Pediatr Surg Rep (2018)
Keywords: horner's syndrome, complication, curly hair, lymphangioma, operation
MeSH terms: Case Reports

A multicystic tumor of the right neck was detected in a girl at 29 weeks of gestation by fetal ultrasound and magnetic resonance imaging (MRI). The baby was delivered by cesarean section at week 37 of gestation. The newborn adapted well, with minimal compromise of breathing and drinking. Postnatal ultrasound and MRI revealed a cervical lymphangioma measuring 60.5 × 60.6 × 41.2 mm. We performed subtotal resection of the tumor when the girl was 34 days. As a complication of surgical resection, the girl developed ipsilateral Horner's syndrome. In the postoperative period, her curled hair turned straight at the side of the head affected by Horner's syndrome. At the age of 2.5 years, ultrasonic imaging revealed the presence of three cysts measuring 3 mm in diameter each. Horner's syndrome had improved, and the texture of the girl's hair had become curly again on both sides.
Catheter-associated bacteremia by Mycobacterium senegalense in Korea
Authors: Won Sup Oh, Kwan Soo Ko, Jae-Hoon Song, Mi Young Lee, Seong Yeol Ryu, Sang Taek, Ki Tae Kwon, Jang-Ho Lee, Kyong Ran Peck, Nam Yong Lee
Journal: BMC Infect Dis (2005)
MeSH terms: Bacteremia / etiology, Catheterization, Central Venous / adverse effects, Mycobacterium / classification, Mycobacterium Infections / microbiology, Case Reports, Research Support, Non-U.S. Gov't, Bacteremia / therapy, Drug Resistance, Bacterial, Female, Humans, Korea, Middle Aged, Mycobacterium / genetics, Phylogeny, RNA, Ribosomal, 16S / genetics, RNA, Ribosomal, 16S

Background:
Rapidly growing mycobacteria is recognized as one of the causative agents of catheter-related infections, especially in immunocompromised hosts. To date, however, Mycobacterium senegalense, which was known as the principal pathogen of bovine farcy, has not been reported in human infection.
Case presentation:
We describe the first case of human infection by M. senegalense, which has caused catheter-related bloodstream infection in a cancer patient in Korea. The microorganism was identified by the 16S rRNA gene, rpoB, and 16S-23S rRNA gene internal transcribed spacer (ITS) sequence analyses.
Conclusion:
Our first report of catheter-associated bacteremia caused by M. senegalense suggests the zoonotic nature of this species and indicates the expansion of mycobacterial species relating to human infection. M. senegalense should be considered as one of the causes of human infections in the clinical practice.
A Case of Tropical Pulmonary Eosinophilia With Incomplete Response to Diethylcarbamazine Therapy
Authors: Ananda Datta, Pritam Chhotray, Banani Jena, Raghavendrun Sivasankar
Journal: Cureus (2023)
Keywords: centrilobular nodules, diethylcarbamazine, filariasis, peripheral eosinophilia, tropical pulmonary eosinophilia
MeSH terms: Case Reports

Tropical pulmonary eosinophilia (TPE) is a specific pulmonary manifestation of lymphatic filariasis. There is overwhelming infiltration of eosinophils in the lung parenchyma in response to microfilaria. The characteristic features include paroxysmal respiratory symptoms, strikingly high blood eosinophil count, elevated level of immunoglobulin (Ig) E along with high titer of anti-filarial antibody. Treatment with diethylcarbamazine (DEC) has an excellent favorable response. However, recovery may often be incomplete. We present a case of a 36-year-old man with TPE who had complete symptomatic improvement after a three-week course of DEC, but only a partial response in radiological and pulmonary function abnormalities.
Bone Regeneration in Vertical Osseous Defect in Periodontitis Patients using Bovine Colostrum
Authors: P L Ravishankar, Preethikaa Guruprasath, Padmaja Vangipuram, Jasmine Vaidya, G Visithiriyan, A Thirumal Raj, Shilpa Bhandi, Shankargouda Patil, Snehashish Ghosh
Journal: Case Rep Dent (2022)
MeSH terms: Case Reports

Background:
The treatment plan for periodontitis may include both nonsurgical and surgical phases. During surgical procedures, bone grafts and barrier membranes were used after degranulation in order to achieve healing. Colostrum is one of the materials that is composed of bioactive components which has either osteoinductive or regenerative potential.
Aim:
The aim of the present study is to evaluate the effectiveness of bovine colostrum as bone regeneration material in periodontitis. Case Description. Clinical periodontal parameters, including probing depth (PD), clinical attachment level (CAL), bleeding on probing (BOP), and plaque index (PI), were evaluated. Patients who were diagnosed with localised periodontitis were selected. Three patients presenting vertical defect at buccal sites were treated with bovine colostrum. Following nonsurgical treatment, flap surgery was performed using bovine colostrum. After 6 months, favourable clinical and radiographical improvements were obtained.
Conclusion:
All cases showed reduction in PD; these findings suggest that the bovine colostrum could favour periodontal regeneration. The clinical significance is that bovine colostrum is cost effective and easily available and enhances bone regeneration. It can therefore be used as an alternative to bone grafts during periodontal surgery.
Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect
Authors: Yannick Nochez, Sophie Arsene, Naig Gueguen, Arnaud Chevrollier, Marc Ferré, Virginie Guillet, Valérie Desquiret, Annick Toutain, Dominique Bonneau, Vincent Procaccio, Patrizia Amati-Bonneau, Pierre-Jean Pisella, Pascal Reynier
Journal: Mol Vis (2009)
MeSH terms: DNA, Mitochondrial / analysis, GTP Phosphohydrolases / genetics, Mitochondrial Diseases / complications, Mitochondrial Diseases / genetics, Mutation, Missense, Optic Atrophy / etiology, Optic Atrophy / genetics, Case Reports, Research Support, Non-U.S. Gov't, Electroretinography, Female, GTP Phosphohydrolases / biosynthesis, Humans, Magnetic Resonance Imaging, Middle Aged, Mitochondrial Diseases / physiopathology, Optic Atrophy / physiopathology, Sequence Analysis, DNA, Vision, Low, DNA, Mitochondrial, GTP Phosphohydrolases, OPA1 protein, human

Purpose:
Autosomal dominant optic atrophy (ADOA, OMIM 165500), an inherited optic neuropathy that leads to retinal ganglion cell degeneration and reduced visual acuity during the early decades of life, is mainly associated with mutations in the OPA1 gene. Here we report a novel ADOA phenotype associated with a new pathogenic OPA1 gene mutation.
Methods:
The patient, a 62-year-old woman, was referred for acute, painless, and severe visual loss in her right eye. Acute visual loss in her left eye occurred a year after initial presentation. MRI confirmed the diagnosis of isolated atrophic bilateral optic neuropathy. We performed DNA sequencing of the entire coding sequence and the exon/intron junctions of the OPA1 gene, and we searched for the mitochondrial DNA mutations responsible for Leber hereditary optic atrophy by sequencing entirely mitochondrial DNA. Mitochondrial respiratory chain complex activity and mitochondrial morphology were investigated in skin fibroblasts from the patient and controls.
Results:
We identified a novel heterozygous missense mutation (c.2794C>T) in exon 27 of the OPA1 gene, resulting in an amino acid change (p.R932C) in the protein. This mutation, which affects a highly conserved amino acids, has not been previously reported, and was absent in 400 control chromosomes. Mitochondrial DNA sequence analysis did not reveal any mutation associated with Leber hereditary optic neuropathy or any pathogenic mutations. The investigation of skin fibroblasts from the patient revealed a coupling defect of oxidative phosphorylation and a larger proportion of short mitochondria than in controls.
Conclusions:
The presence of an OPA1 mutation indicates that this sporadic, late-onset acute case of optic neuropathy is related to ADOA and to a mitochondrial energetic defect. This suggests that the mutational screening of the OPA1 gene would be justified in atypical cases of optic nerve atrophy with no evident cause.
Case report: Stenosis turned leak … and turned stenosis-complications of paravalvular prosthetic leak closure with a plug device
Authors: Barbara Pitta Gros, Olivier Roux, Eric Eeckhout, Matthias Kirsch
Journal: Front Cardiovasc Med (2023)
Keywords: aortic valve disease percutaneous intervention, case report, paravalvular leak repair, percutaneous valve therapy, transcatheter aortic valve implantation (tavi)
MeSH terms: Case Reports

Background:
Paravalvular leak is one of the most common complications and is among the most important prognostic factors of short- and long-term mortality after transcatheter aortic valve implantation (TAVI). Percutaneous valvular leak repair constitutes a first-line treatment for paravalvular leaks and is associated with high success rates and few serious complications nowadays. To the best of our knowledge, this is the first case where placement of the device through the stenting of the bioprosthesis resulted in creating a new symptomatic stenosis that required surgery.
Case summary:
We present a case of a patient with low-flow, low-gradient aortic stenosis treated with transfemoral implantation of a biological aortic prosthesis. One month after the procedure, the patient presented with acute pulmonary oedema and a paravalvular leak was discovered, which was corrected by percutaneous repair with a plug device. Five weeks after the valvular leak repair, the patient was readmitted for heart failure. At this time, a new aortic stenosis and paravalvular leak were diagnosed and the patient was referred for surgery. The new aortic mixed diseased was caused by the positioning of the plug device through the valve's metal stenting, which resulted in a paravalvular leak and pressed against the valve's leaflets, causing valvular stenosis. The patient was referred for surgical replacement and evolved well afterward.
Conclusion:
This case illustrates a rare complication of a complex procedure, and it highlights the need for multidisciplinary decisions and good cooperation between the cardiology and cardiac surgery teams to develop better criteria in the selection of the appropriate technique for managing paravalvular leaks after TAVI.