OpenMed/multicare-articles huggingface dataset:
A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
Authors: Michele Patricia Migliavacca, Rodrigo Ambrosio Fock, Nadia Almeida, Thereza Cavalcanti, Darine Villela, Ana Beatriz Alvarez Perez, David Valle, Elizabeth Wohler, Nara Lygia de Macena Sobreira, Salmo Raskin
Journal: Rev Paul Pediatr (2023)
MeSH terms: Ichthyosis / complications, Ichthyosis / diagnosis, Ichthyosis / genetics, Ichthyosis, Lamellar / complications, Ichthyosis, Lamellar / diagnosis, Ichthyosis, Lamellar / genetics, Case Reports, Alopecia / diagnosis, Alopecia / genetics, Alopecia / pathology, Brazil, Humans, Male, Metalloendopeptidases / genetics, Syndrome, Metalloendopeptidases, MBTPS2 protein, human

Objective:
The classic triad, which defines IFAP syndrome, is ichthyosis follicularis, alopecia, and photophobia. It is a rare X-linked genetic disorder characterized by multiple congenital anomalies with variable severity, caused by pathogenic variants in the MBTPS2 gene, which encodes a zinc metalloprotease that is essential for normal development. This study aimed to report a case of a Brazilian patient with IFAP syndrome presenting skeletal anomalies, which is a rare finding among patients from different families.
Case description:
We describe a male proband with IFAP syndrome showing severe ichthyosis congenita, cryptorchidism, limb malformation, and comprising the BRESHECK syndrome features. Using whole-exome sequencing, we identified a rare missense variant in hemizygosity in the MBTPS2 gene, which had not been identified in other family members.
Comments:
This is the first diagnosis of IFAP syndrome in Brazil with a molecular investigation. The present case study thus expands our knowledge on the mutational spectrum of MBPTS2 associated with IFAP syndrome.
Hypocomplementemic Atypical IgA Vasculitis: A Case Report
Authors: Melvin Chan, Melisha Gayle Hanna, Nicholas Willard, Amy Treece, Bradley Patton Dixon
Journal: Front Pediatr (2022)
Keywords: hsp, iga vasculitis, case report, hypocomplementemia, membranoproliferative glomerulonephritis
MeSH terms: Case Reports

IgA vasculitis (IgAV, also known as Henoch-Schönlein purpura or HSP) is a vasculitis of small vessels involving multiple organs, particularly of the joints, gastrointestinal tract, skin, and kidneys. Growing laboratory evidence has shown that complement plays a key role in the pathogenesis of IgAV, although direct evidence of this association in patients is lacking. We report a child with IgAV associated with clinical features of hypertension, nephrotic range proteinuria, acute kidney injury, and low serum C3, with histopathologic findings on renal biopsy of membranoproliferative glomerulonephritis with C3 and IgA co-dominance, and extensive complement derangements. This case report suggests that complement modifies the pathogenesis of IgAV, and further investigation into complement-targeted therapy in cases of refractory IgAV may be beneficial.
Case report: Methemoglobinemia caused by nitrobenzene poisoning
Authors: Liwen Zhao, Tianzi Jian, Longke Shi, Yaqian Li, Zixin Wen, Lanlan Guo, Qilu Li, Xiangdong Jian
Journal: Front Med (Lausanne) (2023)
Keywords: cyanosis, hemolytic anemia, methemoglobinemia, nitrobenzene, toxic encephalopathy
MeSH terms: Case Reports

Nitrobenzene poisoning is uncommon, with most cases occurring in the dye, paint, and other chemical industries. Nitrobenzene enters the body mainly through the skin, respiratory tract, and oral cavity. Nitrobenzene poisoning symptoms include hypermethemoglobinemia, hemolytic anemia, liver and kidney dysfunction, cardiogenic pulmonary edema, and toxic encephalopathy, which endanger people's lives. Therefore, we present a case of nitrobenzene poisoning caused by skin absorption, focusing on its clinical characteristics and treatment outcomes. A 58 years-old man presented to our department with confusion and cyanosis. He has a history of hypertension and cerebral infarction. The patient was diagnosed with moderate occupational acute benzene poisoning with nitro compounds. Symptomatic support, methylene blue, and other antioxidant treatments were commenced after diagnosis. After treatment, the patient's condition gradually improved, and he was discharged.
Testicular seminoma after the complete remission of extragonadal yolk sac tumor : a case report
Authors: Isao Kuroda, Munehisa Ueno, Tomoko Mitsuhashi, Ken Nakagawa, Hitoshi Yanaihara, Takuji Tsukamoto, Nobuhiro Deguchi
Journal: BMC Urol (2004)
MeSH terms: Endodermal Sinus Tumor / drug therapy, Neoplasms, Second Primary / etiology, Seminoma / etiology, Testicular Neoplasms / drug therapy, Testicular Neoplasms / etiology, Case Reports, Adult, Antineoplastic Combined Chemotherapy Protocols / therapeutic use, Bleomycin / administration & dosage, Cisplatin / administration & dosage, Etoposide / administration & dosage, Humans, Male, Neoplasms, Second Primary / diagnostic imaging, Neoplasms, Second Primary / surgery, Orchiectomy, Remission Induction, Seminoma / diagnostic imaging, Seminoma / surgery, Testicular Neoplasms / surgery, Ultrasonography, Bleomycin, Etoposide, Cisplatin

Background:
Between 2% and 5% of malignant germ-cell tumors in men arise at extragonadal sites. Of extragonadal germ cell tumors, testicular carcinoma in situ (CIS) are present in 31-42% of cases, and CIS are reported to have low sensitivity to chemotherapy in spite of the various morphology and to have a high likelihood of developing into testicular tumors. A testicular biopsy may thus be highly advisable when evaluating an extragonadal germ cell tumor.
Case presentation:
A 36-year-old man was diagnosed as having an extragonadal non-seminomatous germ cell tumor, that was treated by cisplatin-based chemotherapy, leading to a complete remission. In the meantime, testicular tumors were not detected by means of ultrasonography. About 4 years later, a right testicular tumor was found, and orchiectomy was carried out. Microscopically, the tumor was composed of seminoma.
Conclusions:
We herein report a case of metachronous occurrence of an extragonadal and gonadal germ cell tumor. In the evaluation of an extragonadal germ cell tumor, a histological examination should be included since ultrasonography is not sufficient to detect CIS or minute lesions of the testis.
Nd:YAG Laser Photodisruption for Multilevel Premacular Hemorrhage due to Isolated Retinal Venous Macroaneurysm
Authors: Kenan Sonmez, Pehmen Y Ozcan
Journal: Case Rep Ophthalmol Med (2017)
MeSH terms: Case Reports

A 55-year-old man presented with sudden deterioration of vision in the right eye. His visual acuity was reduced to hand motion because of a large multilevel premacular hemorrhage. Nd:YAG laser was performed to drain the entrapped hemorrhage under the internal limiting membrane (ILM) and posterior hyaloid face in the macula into the vitreous. Immediately after laser treatment, streaming of red blood cells into the vitreous gel through the perforation site was observed. At the first-month follow-up, BCVA improved to 20/25 and ILM wrinkling was observed at the macula where the preretinal hemorrhage cleared. Fluorescein angiography revealed an isolated retinal venous macroaneurysm located on the macular branch of the superotemporal vein at the bifurcation site. In contrast to retinal arterial macroaneurysms, retinal venous macroaneurysms are quite rare. To the best of our knowledge, this is the first case reported with multilevel premacular hemorrhage caused by an isolated retinal venous macroaneurysm.
A Multifaceted Approach to Treatment of Recalcitrant Cutaneous Periorbital Juvenile Xanthogranuloma
Authors: Alexandra Van Brummen, Sarah Jacobs, Shu Feng, Emily Li, Arash J Amadi
Journal: J Ophthalmic Vis Res (2023)
Keywords: laser-assisted steroid delivery, co2 laser, juvenile xanthogranuloma
MeSH terms: Case Reports

Purpose:
To demonstrate novel treatments for patients with high juvenile xanthogranuloma (JXG) eyelid lesion burden.
Case report:
A 14-year-old girl was referred to the oculoplastic surgery service for management of worsening extensive bilateral eyelid and adnexal lesions in the setting of JXG. The patient underwent intra-lesional steroid injections, serial excisions, and reconstruction with skin grafts. She was subsequently treated with CO 2 laser-assisted topical steroid application, which resulted in lesion regression.
Conclusion:
A novel multimodal approach to treatment of severe periocular JXG, incorporating surgical debulking, skin autograft, CO2 laser, and intra-lesional steroids, can be effective for lesion control.
Fabella Syndrome and Common Peroneal Neuropathy following Total Knee Arthroplasty
Authors: Connor C Diaz, Avinesh Agarwalla, Brian Forsythe
Journal: Case Rep Orthop (2021)
MeSH terms: Case Reports

Case:
A 62-year-old man presented with persistent lateral knee pain 15 months following an uncomplicated total knee arthroplasty. There was a tendinous snapping structure over the lateral aspect of the knee in deep flexion with positive Tinel's sign over the fibular head. The patient underwent an uncomplicated flabella excision. The patient was cleared to return to work and full duty at two months postoperatively.
Conclusion:
Flabella syndrome is a rare but increasingly common mechanism of persistent lateral knee pain following total knee arthroplasty. Surgeons should be aware of this etiology of persistent lateral knee pain and offer treatment modalities to address this pathology.
Prophylactic ligation of the innominate artery and creation of tracheostomy in a neurologically impaired girl: a case report
Authors: Masayuki Obatake, Takayuki Tokunaga, Koji Hashizume, Kyoko Mochizuki, Takeshi Nagayasu
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Tracheoinnominate artery fistula is known as a potentially fatal complication for patients who depend on tracheostomy or tracheoesophageal diversion. Since the bleeding from a TIF is often difficult to control, preventative procedures are recommended to avoid this complication. An 11-year-old girl with hypoxic-ischemic encephalopathy and scoliosis developed tracheal stenosis caused by compression from the innominate artery. Respiratory control with intubation through the tracheal stenosis was needed, and the patient was at high risk for developing a TIF. She underwent ligation of the innominate artery at tracheostomy. Subsequent tracheostomy revealed a widened tracheal lumen and no further complications. Prophylactic ligation of the innominate artery and creation of tracheostomy might be considered as a valid option for patients at high risk of developing TIF.
Improvement of Arterial Wall Lesions in Parallel with Decrease of Plasma Pentraxin-3 Levels in a Patient with Refractory Takayasu Arteritis after Treatment with Tocilizumab
Authors: Shiho Iwagaitsu, Taio Naniwa
Journal: Case Rep Rheumatol (2017)
MeSH terms: Case Reports

A 19-year-old Japanese woman with active Takayasu arteritis despite multiple conventional immunosuppressive therapies with glucocorticoids in combination with intravenous cyclophosphamide, azathioprine, or infliximab with methotrexate and tacrolimus was successfully treated by switching from infliximab to intravenous tocilizumab. Worsening of claudication of the legs and elevated acute phase reactants, including plasma pentraxin-3 levels, were observed during combination therapy with infliximab. Computed tomography demonstrated increased wall thickening with contrast enhancement in the preexisting lesion of the descending aorta and the femoral arteries. After switching from infliximab to tocilizumab, plasma pentraxin-3 levels gradually decreased to the normal range in parallel with the improvement of claudication. Follow-up computed tomographic scans confirmed the marked improvement of these arterial lesions. Moreover, plasma pentraxin-3 level was increased in response to the worsening of claudication that occurred just after switching to a subcutaneous tocilizumab injection. Measurements of plasma pentraxin-3 might be useful for evaluation of the vascular wall inflammation and therapeutic efficacy even during biologic therapy targeting tumor necrosis factor α and interleukin-6.
Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy
Authors: Irene Flønes, Paweł Sztromwasser, Kristoffer Haugarvoll, Christian Dölle, Maria Lykouri, Thomas Schwarzlmüller, Inge Jonassen, Hrvoje Miletic, Stefan Johansson, Per M Knappskog, Laurence A Bindoff, Charalampos Tzoulis
Journal: PLoS One (2016)
MeSH terms: Basal Ganglia / metabolism, Basal Ganglia Diseases / genetics, Gene Silencing, Membrane Transport Proteins / genetics, Promoter Regions, Genetic, Case Reports, Research Support, Non-U.S. Gov't, 5' Untranslated Regions, Adolescent, Alleles, Biotin / metabolism, Brain / metabolism, Exome, Fatal Outcome, Female, Gene Deletion, Genetic Predisposition to Disease, Heterozygote, Humans, Male, Mutation, Phenotype, Sequence Analysis, DNA, Siblings, Thiamine / metabolism, Young Adult, 5' Untranslated Regions, Membrane Transport Proteins, SLC19A3 protein, human, Biotin, Thiamine, Basal ganglia disease, biotin-responsive

Background:
Biotin-thiamine responsive basal ganglia disease is a severe, but potentially treatable disorder caused by mutations in the SLC19A3 gene. Although the disease is inherited in an autosomal recessive manner, patients with typical phenotypes carrying single heterozygous mutations have been reported. This makes the diagnosis uncertain and may delay treatment.
Methods and results:
In two siblings with early-onset encephalopathy dystonia and epilepsy, whole-exome sequencing revealed a novel single heterozygous SLC19A3 mutation (c.337T>C). Although Sanger-sequencing and copy-number analysis revealed no other aberrations, RNA-sequencing in brain tissue suggested the second allele was silenced. Whole-genome sequencing resolved the genetic defect by revealing a novel 45,049 bp deletion in the 5'-UTR region of the gene abolishing the promoter. High dose thiamine and biotin therapy was started in the surviving sibling who remains stable. In another patient two novel compound heterozygous SLC19A3 mutations were found. He improved substantially on thiamine and biotin therapy.
Conclusions:
We show that large genomic deletions occur in the regulatory region of SLC19A3 and should be considered in genetic testing. Moreover, our study highlights the power of whole-genome sequencing as a diagnostic tool for rare genetic disorders across a wide spectrum of mutations including non-coding large genomic rearrangements.
Rectovesical fistula related to transurethral resection of a bladder lesion
Authors: Ramazan Topaktaş, Abdulkadir Tepeler, Omer Kurt, Mehmet Remzi Erdem, Abdullah Armağan, Sinasi Yavuz Onol
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

A rectovesical fistula (RVF) is an uncommon complication of urooncologic surgery. Although several RVFs have been reported, our case is the first reported RVF in the literature that iatrogenically occurred after transurethral resection of the bladder. A single-stage primary repair with omental flap interposition without a colostomy was successfully performed because of the persistence of the fistula during followup. After 6 months of followup, no fistula or bladder mass was detected.
Rifaximin for Pertuzumab-Related GI Toxicities
Authors: Aixa E Soyano, Gina Reynolds, Alvaro Moreno-Aspitia, Saranya Chumsri
Journal: Front Oncol (2017)
Keywords: her2 positive breast cancer, diarrhea, gastrointestinal toxicities, pertuzumab, rifaximin, trastuzumab
MeSH terms: Case Reports

Pertuzumab is a monoclonal antibody against HER2. Diarrhea and abdominal pain are common adverse events of pertuzumab-based therapy, occurring in almost 70% of patients. The incidence of gastrointestinal toxicities intensifies when pertuzumab is given in combination with chemotherapy. Rifaximin, a non-absorbable oral antibiotic, may provide symptomatic relief in patients with refractory gastrointestinal toxicities from pertuzumab-based therapy beyond standard routine antidiarrheal medications. We present a case of HER2-related therapy-induced diarrhea and abdominal pain managed successfully with Rifaximin.
Heterotopic Ossification following Total Elbow Arthroplasty in a Patient with Parkinson's Disease: Case Report and Literature Review
Authors: Ajay Shah, Michael Uy, James R Yan, Moin Khan, Bashar Alolabi
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Introduction. Heterotopic ossification (HO) usually develops following surgery or trauma. Risk factors for HO following elbow fractures include delay to surgery (>7 days), floating fractures, and elbow subluxation. Systemic risk factors for HO include male sex; concurrent cranial, neurological, or abdominal injury; high-energy trauma; previous development of HO; and contralateral fracture. To date, no studies have reported on Parkinson's disease (PD) as a risk factor for the development of HO. Case Presentation. A 68-year-old female with PD (treated with levodopa-carbidopa) sustained a right closed (OTA type A3) distal humerus fracture and was treated with a total elbow arthroplasty. Postoperatively, development of significant near-ankylosing HO was observed and contributed to significant restriction of elbow motion with activities of daily living. After HO maturation, the osseous growth was excised, and the area irradiated. The patient regained excellent elbow motion with no recurrence of HO. Discussion. A literature review revealed six cases of HO development in PD patients following arthroplasty. Patients with PD have higher serum concentrations of interleukins (IL) and tumor necrosis factor- (TNF-) α. These factors stimulate BMP-2 production which may promote osteogenesis. Levodopa-carbidopa may also influence HO through stimulation of growth hormone and IGF-1. Conclusion. Parkinsonism may promote heterotopic bone growth through the release of osteoinductive factors. HO development may also be mediated by levodopa-carbidopa therapy. Future research should highlight the link between HO and PD and identify if prophylaxis is warranted in PD patients undergoing arthroplasty.
Case report: A case of immune thrombocytopenia combined with Hashimoto's thyroiditis and Helicobacter pylori infection in a child
Authors: Lihong Yang, Dongqiong Xiao, Xihong Li, Chunqi Lai, Yuhao Chen, Lingli Pan
Journal: Front Pediatr (2023)
Keywords: hashimoto’s thyroiditis, children, helicobacter pylori, immune thrombocytopenia, treatment
MeSH terms: Case Reports

Immune thrombocytopenia (ITP) is one of the most prevalent acquired bleeding disorders in children, which is primarily characterized by a decrease in platelet count. It can be classified into two subtypes: primary ITP and secondary ITP. The underlying mechanisms causing ITP are complex and not fully comprehended. Helicobacter pylori (H. pylori) infections can lead to ITP and potentially trigger various autoimmune diseases. Furthermore, there is evidence of a correlation between thyroid disease and ITP. In this case report, we describe the case of an 11-year-old patient who presented with ITP, Hashimoto's thyroiditis (HT), and H. pylori infection. Following anti-H. pylori treatment and thyroxine supplementation, the child's platelet count increased compared to the previous count. The limitation of this report is that the platelet count of this child returned to normal after anti-H. pylori and thyroxine supplementation, so we cannot distinguish the effect of anti-H. pylori and thyroxine supplementation on the platelet count in this child. Despite this limitation, we still believe that early screening for thyroid function and H. pylori, as well as prompt eradication of H. pylori, along with thyroxine supplementation, may be beneficial in treating and improving the prognosis of children diagnosed with ITP.
Pancreatic solitary and synchronous metastasis from breast cancer: a case report and systematic review of controversies in diagnosis and treatment
Authors: Carlo Molino, Carmela Mocerino, Antonio Braucci, Ferdinando Riccardi, Martino Trunfio, Giovanna Carrillo, Maria Giuseppa Vitale, Giacomo Cartenì, Guido De Sena, Breast Unit Cardarelli Hospital, Naples, Italy
Journal: World J Surg Oncol (2014)
MeSH terms: Breast Neoplasms / pathology, Carcinoma, Lobular / secondary, Pancreatic Neoplasms / secondary, Case Reports, Review, Systematic Review, Aged, Breast Neoplasms / therapy, Carcinoma, Lobular / therapy, Combined Modality Therapy, Female, Humans, Pancreatic Neoplasms / therapy, Prognosis

Background:
Metastases from breast cancer cause the frequent involvement of lung, bone, liver, and brain, while the occurrence of metastases to the gastrointestinal tract is rare, and more frequently discovered after a primary diagnosis of breast cancer. Solitary pancreatic metastases from breast cancer, without widespread disease, are actually unusual, and only 19 cases have been previously described; truly exceptional is a solitary pancreatic metastasis becoming evident together with the primary breast cancer.
Case presentation:
A 68-year-old woman reported general fatigue, lethargy, and jaundice. Abdominal ultrasound (US) and magnetic resonance imaging (MRI) showed an ampulloma of Vater's papilla; moreover, a neoplastic nodule in the left breast was diagnosed. She underwent surgery for both breast cancer and ampulloma of Vater's papilla. Pathological examination of pancreatic specimen, however, did not confirm primary carcinoma of the duodenal papilla, but showed a metastatic involvement of pancreas from lobular breast cancer. Immunohistochemistry has been essential to confirm the origin of the malignancy: hormone receptors and mammaglobin were expressed in both the primary breast tumor and the pancreatic metastasis.
Conclusions:
This is one of the few reported cases in literature of an isolated and synchronous pancreatic metastasis from breast cancer, where the definitive diagnosis was obtained only after surgery. We discuss the controversies in this diagnosis and the choice of correct treatment. The surgical resection of solitary metastases can be performed in the absence of disseminated disease.
Unusual Displacement of a Mobilised Dental Bridge during Orotracheal Intubation
Authors: Paolo Feltracco, Stefania Barbieri, Francesca Salvaterra, Letizia Tiano, Rosa Maria Gaudio, Helmut Galligioni, Carlo Ori, Francesco Maria Avato
Journal: Case Rep Anesthesiol (2011)
MeSH terms: Case Reports

Dental trauma during tracheal intubation mostly happens in case of poor dentition, restricted mouth opening, and/or difficult laryngoscopy. 57-year-old man undergoing laparoscopic radiofrequency ablation of unresectable hepatocellular carcinoma had his dental work detached at induction of anesthesia. Oropharyngeal direct view, manual inspection, fibreoptic nosendoscopy, tracheobronchoscopy, and fiberoptic inspection of the esophagus and stomach were unsuccessful in locating the dislodged bridge. While other possible exams were considered, such as lateral and AP x-ray of head and neck, further meticulous manual "sweepings" of the mouth were performed, and by moving the first and second fingers below the soft palate deep towards the posterolateral wall of the pharynx, feeling consistent with a dental prosthesis was detected in the right pharyngeal recess. Only after pulling the palatopharyngeal arch upward was it possible to grasp it and extract it out with the aid of a Magill Catheter Forceps. Even though the preexisting root and bridge deficits were well reported by the consultant dentist, the patient was fully reimbursed. The lack of appropriate documentation of the advanced periodontal disease in the anesthesia records, no mention of potential risks on anesthesia consent, and insufficient protective measures during airway instrumentation reinforced the reimbursement claim.