bluuebunny/crossref_metadata_2025 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.

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

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

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

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

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

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

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

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

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

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

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

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.
Treatment of herpes zoster with botanical interventions
Authors: Ferreira Vanessa , Langland Jeffrey
Published: April 2021

Rationale:

Herpes zoster or shingles is a viral infection caused by the reactivation of the varicella-zoster virus which lays dormant in the ganglia after a primary infection with varicella, most commonly known as chickenpox. Approximately 1 in 3 people in the United States will develop shingles in their lifetime.

Patient concerns and diagnosis:

A 26-year-old Caucasian female presented with a diagnosis of herpes zoster with small lesions on her mid-right abdomen and large weeping lesions on her mid-left abdomen and back with physical complaints of severe burning, pain and itching.

Interventions:

An alternative, botanical based topical therapy was used in this case including extracts of Melissa officinalis, Hypericum perforatum, Eleutherococcus senticosus, Lavandula officinalis, Glycyrrhiza glabra and Sarracenia spp. prepared in a Versabase gel preparation.

Outcomes:

Notably during the first few days of topical treatment, substantial improvement was observed regarding lesion size, lesion number and pain level.

Lessons:

This case demonstrates the potential efficacy of a topical botanical formulation for the treatment of an active herpes zoster outbreak.
Tuberculosis with immune thrombocytopenia
Authors: Alkhatib Mohammed , Elfert Khaled A. , Saleh Ahmed O. , Elkourashy Sarah A. , Fadul Afraa M. , Taha Ruba Y. , Imam Yahia Z. , Fareed Shehab
Published: April 2021

Rationale:

Immune thrombocytopenia (ITP) is a platelet disorder that is caused by antibodies against platelet cells. ITP can be either primary or secondary. One of the secondary causes of ITP is infectious diseases. Tuberculosis (TB) has been reported as a rare cause of secondary ITP.

We report 3 cases of TB that were associated with ITP with favorable response to therapy. We also compared these cases with similar published cases in the literature.

Patient concerns:

The first case was an Ethiopian female who presented with cough, fever, night sweats, and weight loss and was found to have isolated thrombocytopenia without manifestations. The second case was a Nepalese man who presented with mucocutaneous bleeding and respiratory symptoms. The third case was for a Nepalese male who presented with mucocutaneous bleeding without pulmonary symptoms but with lymphadenopathy on chest imaging.

Diagnoses:

The first and second cases were diagnosed as pulmonary TB based on positive acid-fast Bacillus smear and PCR from the sputum. In the third case, mediastinal lymph node biopsy came positive for TB PCR and culture was consistent with extrapulmonary TB. ITP diagnosis was established in the 3 cases after ruling out other causes of thrombocytopenia.

Interventions:

The first case received intravenous immunoglobulin and anti-tubercular treatment (ATT). The second case received ATT followed by prednisolone. The third case was started on intravenous Immunoglobulin and prednisolone; ATT was added after the diagnosis of TB was established later.

Outcomes:

All the cases achieved a good response to the treatment with normalization of platelets count.

Lessons:

It is important to consider TB as 1 of the causes of secondary ITP, especially in countries with a high TB burden. In our literature review, we found that ITP-specific therapy alone was not effective in treating ITP associated with TB; almost all the cases required ATT for achieving good platelet response.
A rare presentation of gastric sarcoidosis
Authors: George Ann , Guan Chelsea , Farooq Maria , Bég Shazia A.
Published: April 2021

Introduction:

Sarcoidosis is a multisystem inflammatory disease involving non-necrotizing epithelioid granulomas with an unknown etiology. Here we present a case of systemic sarcoidosis that involves the gastrointestinal tract.

Patient concerns:

A 45-year old Hispanic female initially presented with nonspecific symptoms including dysphagia and an unintentional weight loss of 65 lbs.

Diagnosis:

After extensive workup including endoscopy with biopsy, she was diagnosed with systemic sarcoidosis with gastrointestinal (GI), pulmonary and musculoskeletal involvement.

Interventions:

She was started on prednisone 60 mg daily and 15 mg of methotrexate subcutaneously with titration up to 22.5 mg.

Outcomes:

She has had significant improvement in symptoms. Currently her symptoms are well controlled on 22.5 mg of subcutaneous methotrexate weekly and folic acid 1 mg daily. She was seen by a pulmonologist who recommended monitoring with pulmonary function test and computed tomography chest every 6 months.

Conclusion:

In patients with known pulmonary sarcoidosis, nonspecific GI symptoms, and inconclusive tests, sarcoidosis with GI tract involvement should be considered.
Recto-vaginal fistula after laparoscopic rectal cancer resection through natural orifice specimen extraction surgery and transvaginal specimen extraction combined with hysterectomy
Authors: Zhao Zimin , Chen Qingkuang , Zheng Honghong , Li Jianjun , Zheng Shuai , Zhao Enhong
Published: April 2021

Introduction:

Laparoscopic rectal cancer resection is currently the most common surgical procedure for treating colorectal cancer. The surgical technique of natural orifice specimen extraction surgery (NOSES) for colorectal cancer is becoming common but post-operative complications occur. In this article, we present a patient with rectal cancer who underwent trans-vaginal NOSES laparoscopic rectal cancer resection combined with hysterectomy and developed a recto-vaginal fistula after the surgery.

Patient Concerns:

The patient was a 56-year-old female with complaint of blood in the stool 7 months before without obvious cause, with aggravation in the last one month. Colonoscopy revealed a mass located 6 cm from the anus.

Diagnoses:

Colonoscopy findings and pathology results suggested mesenchymal ulcerative adenocarcinoma of the rectum.

Interventions:

Patient underwent trans-vaginal NOSES laparoscopic rectal cancer resection combined with hysterectomy.

Outcome

s: The patient recovered well but developed anastomotic fistula on postoperative day 11. An enterostomy was performed urgently. The patient was in stable condition at 1 month follow-up.

Conclusion:

NOSES has the advantage of reduced trauma, quick recovery time, and aesthetics. However, for patients with advanced tumors, especially cancers that invade adjacent organs, expanded resection will increase the risk of postoperative complications. Routine digital rectal examination after ultra-low rectal anastomosis can aid in diagnosing anastomotic leakage early in patients with obscure clinical features.
Malignant bilateral anterior and ipsilateral posterior cerebral artery infarction following traumatic brain injury
Authors: Chang Panpan , Li Fang , Zhu Fengxue , Wang Tianbing
Published: April 2021

Introduction:

Posttraumatic cerebral infarction often occurs following traumatic brain injury (TBI) and is frequently associated with a poor outcome. Although infarctions commonly occur in the posterior cerebral artery (PCA) distribution, they are also relatively common in the middle cerebral artery, anterior cerebral artery (ACA), and vertebrobasilar region. In this study, we report a case of malignant bilateral ACA and ipsilateral PCA infarction following TBI.

Patient concerns:

A 34-year-old man was presented to the emergency room 3 hours after a road accident. His Glasgow Coma Score (GCS) was 8 (E2, M3, V3); his pupils were equal (2.5 mm: 2.5 mm) and slightly reactive.

Diagnosis:

CT scan showed a supratentorial acute subdural hematoma of left frontal and temporal lobes, left frontal lobe contusion and laceration, and a 1 cm (midline) shift. The patient's left pupil was dilated during the scan. All these findings supported the diagnosis of severe TBI, an acute subdural hematoma, contusion and laceration of the brain, and tentorial herniation.

Intervention:

Emergency decompressive craniectomy was performed, correcting the midline; however, a low-density area was found with regular, clear boundaries in the right occipital and bilateral frontal regions. One week post-surgery, the patient's intracranial pressure increased to 25 to 30 mm Hg, with right pupil dilation due to malignant infarction, edema, and midline shift. Decompressive craniectomy on the right frontal, parietal, and temporal regions corrected the midline shift, but infarction and edema persisted. The GCS was 3T (E1, M2, VT).

Outcome:

This patient remained vegetative with GCS 3 and was transferred to a rehabilitation facility.

Conclusion:

In this paper, we report a patient who developed malignant bilateral ACA and ipsilateral PCA infarction following TBI. Posttraumatic cerebral infarction is a severe complication of primary TBI and should be treated as soon as it is detected.
A protocol for randomized, controlled study of baloxavir marboxil compared with oseltamivir in patients with influenza virus infection aged 75 years and older
Authors: Hosogaya Naoki , Takazono Takahiro , Miyazaki Taiga , Furukawa Masashi , Tanaka Shintaro , Kinoshita Masahiro , Mukae Hiroshi
Published: April 2021

Introduction:

Early treatment with antiviral therapy is recommended for patients with severe influenza or those who are at high risk of influenza complications. Baloxavir marboxil is a cap-dependent endonuclease inhibitor approved for treatment of uncomplicated influenza in otherwise healthy adults and adolescents >12 years in the United States and for influenza infection in adults, adolescents ≥12 years, and in children <12 years weighing ≥10 kg in Japan. Analysis of the subgroup of patients ≥75 years in the CAPSTONE-2 trial suggests that the median time to improvement in influenza symptoms is numerically shorter in elderly patients treated with baloxavir or oseltamivir compared with placebo. The current study is designed to extend these findings and compare the efficacy and safety of baloxavir and oseltamivir in Japanese patients ≥75 years with acute influenza virus infection.

Methods:

In this open-label, multicenter, randomized, active-controlled trial, 100 Japanese patients ≥75 years with acute influenza virus infection will be randomly allocated (1:1) to receive a single oral dose of baloxavir 40 mg/80 mg (body weight–based) or twice-daily oral oseltamivir 75 mg for 5 days. At the time of allocation, patients will be stratified by their Influenza Symptom Severity Scale total scores (≤14, ≥15) on Day 1. The primary efficacy endpoint is the time to improvement of influenza symptoms, from the time of first administration of study drug to the time when the severity of each symptom is improved or absent for at least 21.5 hours in the intention-to-treat infected population (all randomized patients with an reverse-transcriptase polymerase chain reaction -confirmed influenza virus infection on Day 1 and who receive at least 1 dose of study drug). Safety will be assessed in all randomized patients who received at least 1 dose of study drug.

Discussion:

Because of the long life expectancy in Japan, the Japanese population presents a unique opportunity in which to investigate the efficacy and safety of antiviral drugs in patients ≥75 years with influenza. The outcomes from this trial will be clinically relevant for Japan and other developed countries that have rapidly aging societies who are at high risk of influenza-associated complications.

Trial registration:

jRCTs071200034
Conservative treatment for patients with high-risk massive pulmonary embolism
Authors: Hasibuan Fani Suslina , Octora Tan Nicko , Intan Ryan Enast , Putro Fikri Samodro , Jonatan Michael , Alkaff Firas Farisi
Published: April 2021

Rationale:

Acute pulmonary embolism (PE) is the most serious complication of venous thromboembolism. A high-risk PE is associated with high mortality as it may manifest as shock. Although there is a guideline, sometimes it cannot be implemented optimally. Therefore, conservative treatment is given. In this article, we report 2 cases of high-risk PE treated conservatively with anticoagulants.

Patient concerns:

In the first case, a 54-year-old woman presented with a chief complaint of sudden dyspnea. She had a history of open left supracondylus femur fracture. In the second case, a 53-year-old woman presented with chief complaints of sudden dyspnea and atypical right sided chest pain. She had a history of neglected right collum femur fracture.

Diagnoses:

Diagnosis of PE was made in both cases based on the results from electrocardiogram, chest X-ray, and echocardiography evaluation. In addition, computed tomography pulmonary angiography was also performed in the first case.

Interventions:

Conservative treatment with anticoagulant was chosen because of limited resources for surgery or intervention since both patients refused thrombolytic therapy and refused to be referred.

Outcomes:

The symptoms of both patients were resolved, and the clinical condition was improved. Imaging evaluation with TEE and duplex ultrasound 1 week later showed good results. Follow-up 3 months afterwards showed that both patients were alive and well without any complaints.

Lessons:

Acute PE with high-risk condition is life-threatening, that is sometimes difficult to diagnose as it varies in clinical symptoms. Sudden onset dyspnea with signs of shock indicates higher mortality. Echocardiography and computed tomography pulmonary angigraphy evaluation are reliable tools for diagnosis. With Conservative treatment using anticoagulant and routine follow up, patients with acute PE can be managed well.
Acquired factor XI inhibitor with immune system disorder
Authors: Mi Jian , Liu Chaonan , Huang Xunbei , Ling Liqin , Zhou Jing
Published: April 2021

Rationale:

Acquired haemophilia is a bleeding disorder caused by inhibitors developed against endogenous coagulation factors in patients, disrupting the normal haemostasis. Most of the cases with acquired haemophilia present with acquired FVIII inhibitors and FIX inhibitors. Acquired FXI inhibitors in patient without inherited FXI deficiency have rarely been reported. Here, we report a case of acquired factor XI inhibitors with primary Sjögren's syndrome.

Patient concerns:

A woman presented with dizziness and headache following a fall, and was diagnosed with skull fracture and epidural hematoma by computed tomography.

Diagnoses:

Acquired haemophilia with acquired factor XI inhibitor and primary Sjögren's syndrome.

Interventions:

She was treated with fresh frozen plasma and tranexamic acid for the first two days, and prednisolone (1 mg/kg/d) for 4 weeks, and a pulse infusion of cyclophosphamide, 750 mg/kg/dose, on the seventh day from the day of admission.

Outcomes:

Symptoms were improved without bleeding events. The inhibitor levels became undetectable and computed tomography revealed that the epidural hematoma was partly absorbed.

Lessons:

Factor XI inhibitor are rare, and the majority cases of the FXI inhibitors are associated with immune disorders and seem to respond well to immunosuppressive therapy.
Acute liver failure caused by metastatic malignant melanoma of liver
Authors: Aierken Yiliyaer , Zhu Yun-Feng , Yang Jia-Yin
Published: April 2021

Introduction:

Malignant melanoma of liver is an exceedingly rare cause of acute liver failure (ALF), whether primary or metastatic. Only few cases have been reported in the worldwide literature, and all the patients with ALF secondary to diffuse hepatic infiltration by melanoma subsequently died within days.

Patient concerns:

The patient was a 70-year-old man admitted to our hospital for abdominal distention and progressive jaundice for 15 days.

Diagnoses:

Ultrasonography and computed tomography findings indicated the presence of hepatomegaly with homogeneous normal echogenicity without focal lesions. Due to the history of alcohol consumption, acute liver failure (ALF) caused by alcoholic live disease was suspected.

Interventions:

After 4 time artificial liver treatment, the patient continued to deteriorate and deceased donor liver transplantation was performed after discussion with the next-of-kin.

Outcomes:

Postoperative pathology revealed clusters of malignant melanoma cells that had diffusely infiltrated the liver parenchyma. The patient was discharged on the eleventh day post-operation. Three months post-transplantation, he was readmitted because of elevated liver enzymes, and died of acute liver failure 9 days later.

Conclusions:

To our knowledge, this is the first report of liver transplantation for ALF due to diffuse hepatic melanoma. When the etiology of liver failure is unclear, diffuse metastatic tumor infiltration should be considered and early liver biopsy would be helpful in establishing the diagnosis and guiding treatment, particularly when liver transplantation is a treatment option as a metastatic malignancy is a contraindication for liver transplantation.
Successful treatment of idiopathic tracheobronchial inflammatory polyposis using endoscopic argon plasma coagulation
Authors: Inoue Yuzuru , Imamura Yohei , Murakami Daigo , Tanikawa Ken , Kamimura Tomoko , Kinoshita Takashi , Nishiyama Mamoru , Kawayama Tomotaka
Published: April 2021

Introduction:

Development of airway polyps is likely associated with underlying diseases such as systemic inflammatory diseases and malignancies. We present a rare case of tracheobronchial benign inflammatory polyposis of unknown origin.

Patient concerns:

A 75-year-old, female, non-smoker was emergently admitted to our hospital with chief complaints of shortness of breath and wheezing. She had suffered from sporadic episodes of shortness of breath and wheezing throughout the past 2 years and was treated with a combination of an inhaled corticosteroid and a long-acting beta 2 agonist for asthma by her physician for the last year. Spirometry revealed that the patient was likely affected by a combination of severe obstructive and restrictive ventilatory defects.

Diagnoses:

Histological findings of polyp biopsies showed non-specific inflammation with predominant cell differentiation 20 positive cell proliferation without granulation, hyperplasia, malignant cells, amyloid deposition, or microorganisms. Neither human papillomavirus nor Epstein-Barr viral DNA were detected from biopsy specimens via polymerase chain reaction and southern hybridization techniques.

Interventions:

Intravenous administration of methylprednisolone, but not regular use of inhaled corticosteroids/ long-acting beta 2 agonists combination therapy, temporarily improved the patient's respiratory symptoms to a moderate degree. However, systemic corticosteroids did not effectively remedy tracheobronchial polyposis. Repeated argon plasma coagulation (APC) of tracheobronchial polyposis improved the respiratory symptoms and lung function of the patient.

Outcomes:

The tracheobronchial polyposis did not recur throughout the year that followed the last APC intervention.

Conclusion:

APC may be used to treat the patients with idiopathic inflammatory tracheobronchial polyposis, particularly symptomatic patients with ventilation disorders and non-responders to anti-inflammatory medicines. However, APC should be carefully considered after analyzing the benefits and risks.
Primary hyperaldosteronism presenting as resistant hypertension
Authors: Pelle Maria Chiara , Tripolino Cesare , Ricchio Marco , Ruffo Mariafrancesca , Zaffina Isabella , Tassone Bruno , Cavallo Michela , Bertucci Bernardo , Arturi Franco
Published: April 2021

Introduction:

Primary hyperaldosteronism is a secondary cause of drug resistant hypertension. This condition is frequently underdiagnosed due to absence of typical features.

Patient concerns:

We reported a case of a 65 years old woman with high blood pressure despite multiple antihypertensive regimens.

Diagnosis:

After careful examination, she was diagnosed as adrenal adenoma.

Interventions:

The patient underwent laparoscopy adrenalectomy and the histopathological examination confirmed the presence of adrenocortical adenoma.

Outcomes:

The patient had no complications during the surgery and after 3 months of follow-up we observed a significant reduction of blood pressure.

Conclusion:

This case highlights the importance to maintain a high index of suspicion and consider screening for secondary causes of high blood pressure in patients with resistant hypertension.
Observational study of efficacy, safety, and tolerability of fentanyl in Korean cancer patients (OASIS)
Authors: Choi Youn Seon , Koh Su-Jin , Bae Woo Kyun , Kim Se Hyung , Shin Seong Hoon , Oh So Yeon , Bae Sang Byung , Yang Yaewon , Song Eun-Kee , Cho Yoon Young , Lee Pyung Bok , Oh Ho-Suk , Park Sang Won , Ahn Jin Seok
Published: April 2021

Background:

Sublingual fentanyl (Abstral) has been developed to provide rapid-onset analgesia in breakthrough cancer pain (BTcP). While the efficacy and safety of the fentanyl tablet have been already confirmed in clinical trials, there is no real-world evidence regarding the effectiveness and safety of this agent in the control of BTcP.

Aims:

To observe the effectiveness, safety and tolerability of Abstral for the alleviation of BTcP in Korean patients.

Methods:

The study is a non-interventional, observational study conducted in 13 hospitals in the Republic of Korea. Cancer patients (targeted number: 309), prescribed with Abstral due to the inability to control BTcP with other fentanyl products, are to be followed up for 12 weeks to collect the information about dose titration, pain status, quality of life, and adverse events.

Conclusions:

The list of inclusion and exclusion criteria is relatively short, which will likely make the study group more representative for the entire population of cancer patients with BTcP. All treatment-related decisions are left solely on the investigator's discretion, which will enable to analyze the treatment outcomes in various clinical scenarios, unlikely to be tested in a traditional clinical trial. These two features seem to be essential for the successful management of BTcP, a highly heterogeneous condition requiring an individualized approach. Further, the study includes patients who did not respond to other fentanyl formulations, and hence, it might explain whether switching from one immediate-release fentanyl to another is associated with a clinical benefit and/or specific risk.

Trial registration:

ClinicalTrials.gov with the identifier NCT03895762.
Neonatal lupus erythematosus with diffuse iron deposition in the liver on magnetic resonance imaging
Authors: Suzuki Yuto , Uzuki Yutaka , Kato Hirotaka , Kudo Kyohei , Yakuwa Satoshi , Nasu Takashi , Uetake Kimiaki , Yamada Masafumi
Published: April 2021

Rationale:

Neonatal lupus erythematosus (NLE) is caused by transplacental transfer of maternal autoantibodies against SS-A, SS-B, and/or RNP. Symptoms include heart block, skin lesions, cytopenia, liver dysfunction, and occasionally hydrocephalus. Hepatobiliary disease in NLE should be closely monitored, since severe liver failure has been reported.

Patient concerns:

A 0-day-old female patient presented with nonspecific systemic erythema, liver dysfunction, and hyperferritinemia at birth, and abdominal magnetic resonance imaging indicated diffuse iron deposition in the liver but not in extrahepatic tissues. The patient had no maternal complications or findings indicating intrauterine growth retardation, oligohydramnios, or fetal ascites.

Diagnoses:

The patient was diagnosed with NLE based on the presence of anti-SS-A and SS-B antibodies in the maternal and cord blood.

Interventions:

No intervention was required.

Outcomes:

Her symptoms improved spontaneously. The titers of anti-SS-A and SS-B antibodies became undetectable levels on day 379, while serum anti-double stranded DNA antibody became positive without any clinical symptoms.

Lessons:

Since NLE with hepatobiliary disease could present with diffuse iron deposition in the liver mimicking neonatal hemochromatosis, we need to carefully evaluate and monitor this condition.