bluuebunny/crossref_metadata_2025_split huggingface dataset:
Precision nutrition based on phenotypical traits and the (epi)genotype: nutrigenetic and nutrigenomic approaches for obesity care
Authors: Ramos-Lopez Omar , Milton-Laskibar Iñaki , Martínez J. Alfredo 
Published: April 2021

Purpose of review
The purpose of this article is to rationally review and critically appraise the current knowledge in the most relevant nongenetic and genetic factors influencing obesity predisposition. This information may be translated into the implementation of personalized nutrition approaches involving precision nutrigenetic and nutrigenomic strategies for obesity monitoring and weight management.

Recent findings
The importance and influence of several nongenetic contributors to obesity onset and individual responses to weight-loss interventions have been highlighted including the role of age, sex or perinatal feeding and others related to an individual's lifestyle and modifiable. Nutrigenetic studies have analysed potential interactions between polymorphisms influencing energy homeostasis/body composition and dietary factors in relation to adiposity phenotypes and therapy responsiveness. A second approach comprises the Nutrigenomic analysis of gene expression modifications in response to the consumption of specific nutrients or dietary bioactive compounds, which may involve epigenetic mechanisms including deoxyribonucleic acid methylation and micro-ribonucleic acid expression profiles.

Summary
Taken together, these findings encompass the importance of taking into account up-to-date advances in Nutrigenetic and Nutrigenomic hallmarks, globally analysing the risk of weight gain and related outcomes after following nutrition counselling, this contributing to improve obesity care considering phenotypical traits and the genetic make-up for precision obesity care.
Central retinal artery occlusion with aphasia, secondary to internal carotid artery dissection in a young man
Authors: Yokota Chika , Harada Yosuke , Kikumoto Mai , Kiuchi Yoshiaki 
Published: April 2021

Abstract

Introduction:
Central retinal artery occlusion (CRAO) is an ophthalmic emergency, requiring immediate diagnosis and treatment. CRAO usually causes severe loss of vision. We report a case of CRAO, secondary to an internal carotid artery dissection, in which there was a good prognosis owing to early intervention.

Patient concern:
A healthy 41-year-old man experienced sudden monocular loss of vision and transient aphasia. The light reflex was absent and fundus examination revealed an intra-arterial thrombus in his left eye.

Diagnosis:
CRAO and transient ischemic attack owing to internal carotid artery dissection.

Intervention:
The patient was treated with Anterior chamber paracentesis to decrease intraocular pressure and antithrombotic therapy for CRAO. Anticoagulation therapy was started after diagnosing internal carotid artery dissection.

Outcome:
The light reflex recovered and the patient's vision improved from no light perception to 20/20 after the anterior chamber paracentesis and antithrombotic therapy. Conservative treatment improved blood flow of the internal carotid artery, without recurrence of ischemic symptoms.

Conclusion:
CRAO requires urgent diagnosis and treatment to achieve a good visual outcome. It is also important to simultaneously test for systemic diseases and initiate appropriate treatment.
Pyoderma gangrenosum, acne, and unclassified inflammatory bowel disease syndrome
Authors: Koga Takuma , Hidaka Yukiko , Iwamoto Kazutsugu , Kumaki-Matsumoto Eri , Harada Yumi , Sugi Suzuna , Hayashi Makiko , Fujimoto Kyoko , Kaieda Shinjiro , Natsuaki Yohei , Mitsuyama Keiichi , Ishimaru Hiroyasu , Iga Natsuko , Fujita Kumi , Morio Tomohiro , Yamasaki Satoshi , Nishikomori Ryuta , Hoshino Tomoaki , Ida Hiroaki 
Published: April 2021

Abstract

Rationale:
Pyogenic arthritis, pyoderma gangrenosum (PG), and acne (PAPA) syndrome is an autosomal dominant inherited autoinflammatory syndrome. Recently, many subtypes of PAPA syndrome have been reported, such as PG, acne, and ulcerative colitis (PAC) syndrome. We present the rare case of a patient with intestinal lesions different from those seen in the patient with PAC syndrome.

Patient concerns:
A 22-year-old Japanese man was referred to our department for arthralgia, PG, and acne. He was diagnosed with inflammatory bowel disease 3 months after the first visit.

Diagnoses:
Synovial tissue from the patient's knee joint was poor in neutrophil infiltration, which did not indicate pyogenic arthritis. His symptoms resembled those of PAC syndrome; however, the macroscopic findings indicated unclassified inflammatory bowel disease rather than ulcerative colitis or Crohn's disease. We diagnosed him with PG, acne, and unclassified inflammatory bowel disease syndrome, which we propose to be a new subtype of PAPA syndrome.

Interventions:
Initially, the patient was treated with steroids, salazosulfapyridine, and enteral feeding, but arthralgia, acne, abdominal symptoms, and exacerbation of inflammatory reactions were still observed. Administration of adalimumab and granulocyte and monocyte adsorption apheresis therapy were not effective, and we elected to administer infliximab as an alternative treatment.

Outcomes:
All clinical symptoms except arthralgia improved after administration of infliximab.

Lessons:
We consider PG, acne, and unclassified inflammatory bowel disease to be a new subtype of PAPA syndrome complicated with unclassified inflammatory bowel disease, associated with autoinflammatory-related enterocolitis.
Pericarditis as an initial manifestation of Sjögren syndrome in a child
Authors: Watanabe Shintaro , Abe Yuriko , Tokunaga Wataru , Kato Masataka , Komori Akiko , Kobayashi Hiroko , Nishimaki Haruna , Masuda Shinobu , Morioka Ichiro 
Published: April 2021

Abstract

Introduction:
Primary Sjögren syndrome (SS) is a chronic systemic autoimmune disease characterized by lymphocytic inflammation of exocrine glands and epithelia in multiple sites. SS is usually difficult to diagnose particularly in children because SS is rare for this age group, and various clinical signs and symptoms, without typical sicca symptoms, are shown as initial manifestations in pediatric SS patients. There have been no reports on cases of pediatric primary SS with symptomatic pericarditis being the initial manifestation. We report a case of primary SS in a pediatric patient who developed symptomatic pericarditis.

Patient concerns:
An 11-year-old girl presented with a 2-day history of fever, and chest and left shoulder pains. The pain was exacerbated when she was in a supine position. Diffuse ST-segment elevations on the electrocardiogram, presence of pericardial friction sounds, exacerbation of diastolic pericardial effusion on the echocardiogram, and continuous chest pain indicated acute symptomatic pericarditis.

Diagnosis:
The results of the blood antibody test, salivary gland scintigram, and salivary gland biopsy led to the diagnosis of SS. Also, this patient has no hypocomplementemia, and classification criteria of American College of Rheumatology of systemic lupus erythematosus and mixed connective tissue disease were not fulfilled.

Intervention:
Prednisolone therapy relieved her symptoms. Subclinical Hashimoto's thyroiditis, a well-known complication of primary SS, was observed; however, prescriptions were not needed.

Outcomes:
The clinical signs and symptoms of systemic lupus erythematosus and mixed connective tissue disease were not observed when prednisolone was tapered. During the 1-year treatment and follow-up period, the patient had no symptom recurrence.

Conclusions:
In pediatric primary SS patients, clinically silent heart changes are common, but obvious heart involvement is extremely rare. Unusual initial symptoms, such as symptomatic pericarditis, should not be missed in childhood-onset primary SS.
Intravenous leiomyomatosis successfully treated by multidisciplinary treatment including GnRH antagonist Relugolix
Authors: Nagashima Masaru , Komiyama Shinichi , Yoshida Takayuki , Kimura Yuria , Sadamoto Sota , Saito Arisa , Rikitake Takayuki , Katakura Masafumi , Taniguchi Tomoko , Morita Mineto 
Published: April 2021

Abstract

Introduction:
Intravenous leiomyomatosis (IVLM) occurs when a leiomyoma arises from uterine smooth muscle cells and extends into the veins. It is rare and is often difficult to treat. We report a case of leiomyoma that extended into the ovarian and internal iliac veins and pelvic cavity, which was successfully resected after multidisciplinary treatment.

Patient concerns:
A 49-year-old, premenopausal Chinese woman was referred to our department after a follow-up for uterine myoma revealed a sudden increase in size of the pelvic tumor with intravascular growth.

Diagnosis and Interventions:
We suspected IVLM and administered relugolix (gonadotropin-releasing hormone antagonist) for 5 months. The tumor shrank by 76%. We selectively embolized the internal iliac and uterine arteries and performed a laparotomy, completely resecting the tumor. Relugolix was administered for 5 months postoperatively, then switched to the aromatase inhibitor letrozole.

Outcomes:
At 14 months postoperatively, there was no evidence of recurrence.

Conclusion:
This is the first report demonstrating the efficacy of a gonadotropin-releasing hormone antagonist for IVLM. Preoperative relugolix therapy followed by radical surgery is a promising strategy for patients with IVLM.
Acute thromboembolic complication after stent-assisted aneurysm embolization of ruptured dissecting aneurysm in communicating internal carotid artery segment
Authors: Zhang Donghuan , Gao Jun , Liu Yifeng , Wang Ning , Kang Meijuan , Sun Jun , Yu Yang , chen Di , Wang Jie , Wen Changming 
Published: April 2021

Abstract

Introduction:
Dissecting aneurysms in the communicating segment of the internal carotid artery (ICA) is uncommon. Clinical evidence to support the use of endovascular treatment for dissecting aneurysms in the communicating segment of ICA has not been established.

Patient concerns:
A 48-year-old woman presented with complaints of sudden headaches with nausea and vomiting. Computed Tomography Head taken in another hospital showed subarachnoid hemorrhage.

Diagnoses:
Digital Subtraction Angiography examination of the head showed ruptured dissecting aneurysm in the communicating segment of ICA.

Interventions:
The patient underwent stent-assisted aneurysm embolization and acute thromboembolic complication occurred intra-operatively. Tirofiban was injected through the microcatheter and a Percutaneous Transluminal Angioplasty (PTA) balloon catheter was inserted in the stent. Following the treatment, a repeat digital subtraction angiography showed no aneurysm development and the right middle cerebral artery was unobstructed. The right ICA was observed for 30 minutes, and it remained patent.

Outcomes:
Seven hours after the procedure, the patient became drowsy, the right limb was paralyzed, and her speech was slurred. Magnetic resonance angiography and 3D time of flight showed severe stenosis of the right middle cerebral artery and anti-platelet drug was administered. At seven-month follow-up, the patient showed residual mild motor dysfunction of right hand and leg.

Conclusion:
For ruptured dissecting aneurysm in the communicating segment of ICA, endovascular treatment may be a suitable treatment. But there is a risk of acute thromboembolic complication during and after the procedure and hence requires careful monitoring.
Metastatic ameloblastoma in the lung with unique biphasic morphology
Authors: Wang Manxiang , Chang Qing , Zhang Yanggeling , Jin Su , Xu Pengfei , Yang Qian , Dong Panpan , Yue Junqiu 
Published: April 2021

Abstract

Rationale:
Ameloblastoma is a rare and benign tumor of odontogenic epithelial origin, with a high recurrence rate and occasional metastasis. Most metastases occur many years later, resulting in misdiagnosis due to unclear medical history and uncharacteristic morphology in some cases.

Patient concerns:
A 39-year-old female presented to hospital with chest tightness and cough. She had a history of surgery on the right mandible 18 years ago (diagnosis was unknown).

Diagnoses:
Computed tomography scan revealed multiple nodules in the patient's bilateral lungs. A definite diagnosis could not be made from the computed tomography-guided biopsy of lung nodule. Then, wedge resection of lung nodules was performed for further diagnosis. Microscopically, the tumor consisted of 2 cell components: one was columnar or cuboidal epithelium lining on the surface of the nest, glandular or papillary structures, confirmed as proliferative alveolar epithelium by positive expression of CK7, TTF1 and NapsinA; the other was located underneath, expressing squamous markers CK5/6 and P40, showing a palisading arrangement of columnar cells in the periphery, and a vortex or flowing water arrangement of oval or polygonal cells in the center. Cytological atypia, mitosis, and necrosis were absent within the whole tumor. After reviewing slices of the original jaw tumor, the final diagnosis was lung metastatic ameloblastoma.

Interventions:
As there was no specific treatment, the patient was treated with traditional Chinese medicine intermittently after surgery.

Outcomes:
The patient was in stable condition during 32 months of follow-up periodically (the last telephone follow-up was in November 2020).

Lessons:
Tumor cells of lung metastatic ameloblastoma infiltrate the alveolar septum and cause hyperplasia of the alveolar epithelium, forming a unique biphasic morphology. The accurate diagnosis requires a detailed medical history and awareness of this rare metastatic characteristic.
Successful treatment of refractory mucocutaneous involvement in a Behçet disease patient with apremilast
Authors: Muraoka Sei , Kanaji Miwa , Koshiba Keiko , Nanki Toshihiro 
Published: April 2021

Abstract

Rationale:
Apremilast is currently approved and used for oral ulcers in Behçet disease (BD). The direct comparisons of the efficacy between tumor necrosis factor (TNF) inhibitors and apremilast has not been conducted, and the guidelines do not address the order in which therapies should be used. Colchicine is more often recommended to be used first, and the other drugs are recommended to be chosen based on the overall condition of the patient.

Patient concerns:
A 44-year-old male with relapsing genital ulcers, oral ulcers, arthritis, and pustular skin lesions for unknown reasons for several years was transferred to our hospital presenting with generalised seizures.

Diagnoses:
Laboratory results showed an elevated inflammatory response. The elevated cell count and interleukin-6 levels were detected in cerebrospinal fluid. After excluding the other causes, the patient was diagnosed with meningoencephalitis due to acute neuro-BD.

Interventions:
Encephalitis and mucocutaneous lesions were ameliorated by glucocorticoids (prednisolone), but the mucocutaneous lesions flared-up after reducing the dose of glucocorticoids. TNF inhibitors and immunosuppressive drugs were not effective. Hence apremilast at a dose of 60 mg was initiated.

Outcomes:
Apremilast markedly attenuated mucocutaneous lesions, which disappeared within one month. There was no recurrence of mucocutaneous lesions. Apremilast was continued but glucocorticoids were discontinued and has not been re-administered for more than a year.

Lessons:
Apremilast might improve refractory mucocutaneous involvement, even in cases where TNF inhibitors and glucocorticoids are ineffective. Although the guidelines do not address the order in which therapies are used, apremilast can be considered beforeTNF inhibitors in selected cases of mucocutaneous involvement in BD.
Reverse shoulder arthroplasty and synthetic mesh for reconstruction of the shoulder joint after malignant bone tumor resection
Authors: Takahashi Takuya , Sato Tetsuya , Manabe Jun , Gokita Tabu , Sato Shingo , Koyanagi Hirotaka 
Published: April 2021

Abstract

Introduction:
A wide resection of malignant tumor including the deltoid insertion in the proximal humerus significantly worsens shoulder function. There are several reports about the reconstruction of the shoulder joint using reverse shoulder arthroplasty (RSA) after tumor resection. However, there have been no reports of reconstruction using RSA and a polypropylene mesh in combination with the modified L’Episcopo procedure.

Patient concerns:
An 83-year-old man complained of pain in his right shoulder.

Diagnosis:
The patient was diagnosed with dedifferentiated chondrosarcoma in the proximal humerus based on pathological assessment.

Interventions:
We excised the tumor with the proximal humerus including the deltoid attachment and reconstructed it with deltoid muscle by suturing it to polypropylene mesh covering the implant stem. We then performed a tendon transfer with the latissimus dorsi and teres major muscles in place of dissected posterior rotator cuffs as a modified L’Episcopo procedure.

Outcomes:
The pathological diagnosis confirmed a negative margin. His shoulder function improved at the 1-year follow-up.

Conclusion:
Reconstruction of the deltoid insertion using a polypropylene mesh surrounding the stem of an internal prosthesis during RSA is an easy technique and achieves relatively favorable shoulder function.
A pilot feasibility and safety multicenter trial of administering weight adjusted FiXED dose of low molecular weight heparin (ENOXAPARIN) to neonates and children with thrombosis
Authors: Bhatt Mihir D. , Hamilton Korinne , Kulkarni Ketan , Raffini Leslie , Simpson Ewurabena , Thabane Lehana , Chan Anthony K. 
Published: April 2021

Abstract

Introduction:
Enoxaparin is a commonly used low molecular weight heparin (LMWH) for the treatment of thrombosis in neonates and children that is monitored with anti-factor Xa (anti-Xa) levels. However, this therapeutic range of anti-Xa (0.5–1.0 u/ml) was extrapolated from adult studies. The burden of pain to neonates and children due to venipunctures and of resources to the health care system also warrants an evidence-based review to assess the utility of monitoring LMWH therapy with anti-Xa levels. Here we describe the FiXET trial.

Methods/Design:
This is a prospective pilot, feasibility and safety multicenter, randomized controlled trial to compare the approach of treating thrombosis in neonates and children under 18 years of age with enoxaparin using weight adjusted fixed dose to variable dose titrated to maintain a pre-determined anti-Xa range (0.5–1.0 u/mL). We plan to recruit 20 neonates and children over the study period, who will be randomized within their first week of anti-coagulation treatment. Key feasibility outcomes include screening/recruitment ratio, monthly recruitment rate, and completeness of data collection. We will also measure the safety outcome of bleeding as well as comment on efficacy of resolution of thrombosis as a secondary outcome.

Discussion:
The administration of weight adjusted fixed dose of enoxaparin without anti-Xa monitoring has the potential to reduce pain from multiple venipunctures in neonates and children as well as resources used in their already complex care. The results of the FiXET trial will set the framework for a larger multicenter randomized controlled trial to compare the efficacy of administering enoxaparin to neonates without monitoring to the current conventional approach of routine monitoring with anti-Xa levels.

Trial registration:
The trial is registered with clinicaltrials.gov as NCT02486666.
Hemorrhagic complications and thromboembolism during anticoagulant therapy in a coronavirus disease patient
Authors: Araki Hiroshi , Sekino Motohiro , Akabame Shogo , Yamanashi Hirotomo , Egashira Takashi , Yano Rintaro , Matsumoto Sojiro , Fujita Ayumi , Tashiro Masato , Tanaka Takeshi , Izumikawa Koichi , Yanagihara Katsunori , Ariyoshi Koya , Hara Tetsuya 
Published: April 2021

Abstract

Rationale:
Patients with coronavirus disease (COVID-19) often develop complications of thromboembolism. Anticoagulant therapy reportedly contributes to improved survival. Although COVID-19 has also been reported to cause bleeding complications, both bleeding and thromboembolism are uncommon among COVID-19 patients. We report herein a case of a severe COVID-19 patient who developed hemorrhagic complications and thromboembolism during anticoagulant therapy.

Patient concerns:
A 44-year-old man with a body mass index of 47.6 kg/m2 who had fever and serious respiratory symptoms was admitted.

Diagnoses:
A throat swab sample for the SARS-CoV-2 real-time polymerase chain reaction test was positive.

Interventions:
The patient required mechanical ventilation and renal replacement therapy for acute kidney injury. Anticoagulant therapy using nafamostat mesylate and unfractionated heparin was started to prevent venous thromboembolism.

Outcomes:
The patient developed hemorrhagic complications of hemoptysis and subcutaneous hemorrhage on the left abdominal flank despite a normal clotting function test results. We adjusted the dose of anticoagulants, but he developed complications of pulmonary thromboembolism (PTE) on day 23. We continued treatment with direct oral anticoagulants. The PTE virtually resolved as visualized on computed tomography a month later, and he was discharged on day 69. In this case, the patient developed hemorrhagic complications during anticoagulant therapy and presented with PTE despite strict adjustments of the anticoagulant dose.

Lessons:
Anticoagulation is essential in COVID-19 cases because of the high number of reported thromboembolic complications. However, extreme caution is required because bleeding complications can occur even under close monitoring of the coagulation functions.
Sustained hyperbilirubinemia following clarithromycin administration
Authors: Yamamoto Tomoka , Ishigami Keisuke , Ueno Akari , Akutsu Noriyuki , Numata Yasunao , Wagatsuma Kohei , Sasaki Shigeru , Nakase Hiroshi 
Published: April 2021

Abstract

Rationale:
Hyperbilirubinemia is observed in drug-induced liver injury of cholestatic type, but direct inhibition of transporter proteins which facilitates bilirubin transport also causes hyperbilirubinemia. Here we present a case of sustained hyperbilirubinemia after the administration of clarithromycin.

Patient concerns:
A 52-year-old man was referred to our hospital because of sustained hyperbilirubinemia. Both contrast-enhanced computed tomography and Magnetic resonance cholangiopancreatography did not reveal any abnormality. But his liver was not enhanced in the hepatocellular phase of Gd-EOB-DTPA MRI. Indocyanine Green (ICG) retention rate at 15 minutes (ICG(R15)) was 58%, urinary coproporphyrin was 324 μg/g Cr, and serum bile acid was 283 nmol/mL. Technetium-99m galactosyl human serum albumin (99mTc-GSA) liver scintigram revealed that his liver function was normal (blood clearance ratio (HH15), 0.572; and hepatic uptake ratio (LHL15), 0.948)

Diagnoses:
These findings suggested that hyperbilirubinemia in the present case was caused by impaired organic anion-transporting polypeptide (OATP) 1B1 and 1B3 activity. Drug-induced lymphocyte stimulation test (DLST) for clarithromycin was positive. Among the drugs prescribed before the presentation of hyperbilirubinemia, clarithromycin is the only agent that has been reported to reduce the OATP1B1/1B3 transporter activity.

Interventions:
The patient continued taking oral UDCA, but hyperbilirubinemia did not improve. Bilirubin absorption therapy was performed twice.

Outcomes:
Following bilirubin absorption therapy, hyperbilirubinemia resolved and the bilirubin levels became normal. With the decrease in serum bilirubin, the liver was normally enhanced on the hepatocellular phase of Gd-EOB-DTPA MRI. ICG(R15). Urinary coproporphyrin, and bile acid levels returned to normal range (ICG(R15) of 9.2%, urinary coproporphyrin of 58 μg/g Cr, and bile acid of 13.5 nmol/mL).

Lessons:
The present case indicates that uptake of Gd-EOB-DTPA in the liver, ICG retention test, serum bile acid levels combined with urinary coproporphyrin can be a potential marker of OATP transporter activity and help in differential diagnosis of sustained hyperbilirubinemia.