bluuebunny/crossref_metadata_2025_split huggingface dataset:
Surgical debridement for acute invasive fungal rhinosinusitis during the pre-engraftment phase of allogeneic hematopoietic stem cell transplantation
Authors: Cheng Hao-yu , Yuan Lei , Wang Jing-bo 
Published: October 2018

Abstract

Rationale:
Surgical intervention may be not a contraindication for acute invasive fungal rhinosinusitis (AIFR) during the pre-engraftment period of allogeneic hematopoietic stem cell transplantation (allo-HSCT).

Patient concerns:
We present 2 cases involving patients with AIFR in the pre-engraftment phase of allo-HSCT.

Diagnoses:
Both patients received surgical debridement combined with systemic antifungal treatment. The biopsies identified the diagnosis of AIFR in these 2 cases.

Outcomes:
The 2 patients obtained normal hematopoiesis without recurrence of AIFR.

Lesson:
Our experience with these 2 cases suggests that prompt endoscopic surgical debridement is not an absolute contraindication for allo-HSCT recipients with AIFR during the pre-engraftment period. If permitted, urgent, radical, and aggressive but careful endoscopic debridement should be performed together with systemic antifungal treatment once AIFR has been diagnosed or suspected.
Primary hypothyroidism in a child leads to pituitary hyperplasia
Authors: Cao Junguo , Lei Ting , Chen Fan , Zhang Chaochao , Ma Chengyuan , Huang Haiyan 
Published: October 2018

Abstract

Rationale:
A sellar mass in children is most often seen in craniopharyngeal tumors, intracranial germ cell tumors, or pituitary adenomas. However, pituitary hyperplasia secondary to primary hypothyroidism (PHPH) is not commonly seen in children.

Patient concerns:
A 10-year-old girl was admitted due to growth retardation and obesity for 4 years. On physical examination, the patient had a height of 118 cm, body weight of 46 kg, body mass index (BMI) of 33.0 kg/m2.

Diagnoses:
After magnetic resonance imaging (MRI) and laboratory tests, her initial diagnosis was Hashimoto's thyroiditis, primary hypothyroidism, and reactive pituitary hyperplasia.

Interventions:
She was treated with oral L-thyroxine tablets.

Outcomes:
After 6 months, physical examination showed a height of 125 cm, weight of 36 kg, BMI of 23.0 kg/m2. She developed well, with 12 cm of yearly growth thereafter.

Lessons:
The diagnosis of PHPH in a child is very important and sometimes difficult. Based on the summary and analysis of previous cases, we can learn that the main manifestations of PHPH include growth arrest and obesity, perhaps accompanied by symptoms caused by a decreased thyroid hormone concentration and elevated prolactin (PRL) concentration. Intracranial MRI shows diffuse enlargement of the anterior lobe of the pituitary gland, with a dome-shaped blunt edge change. Thyroid hormone levels may decrease, whereas the thyroid stimulating hormone (TSH) level increases, commonly accompanied by an elevated PRL, reduced growth hormone (GH) levels, and positive findings of TPOAb and TGAb. Improvement of symptoms and the normalization of hormone levels as well as restoration of pituitary size can be achieved after treated with thyroid hormone replacement therapy. And a hasty decision on surgical resection should be avoided when the diagnosis is uncertain.
Comparison of the response of frequently relapsing steroid-dependent minimal change nephrotic syndrome to rituximab therapy between childhood-onset and adult-onset disease
Authors: Iwabuchi Yuko , Miyabe Yoei , Makabe Shiho , Nakano Marie , Manabe Shun , Karasawa Kazunori , Moriyama Takahito , Nitta Kosaku 
Published: October 2018

Abstract
Rituximab has been approved in Japan for the treatment of intractable nephrotic syndrome, but in cases of childhood-onset disease only; its efficacy and safety in adult-onset disease has yet to be established. This study was undertaken to evaluate the efficacy of rituximab and adverse effects in patients with adult-onset minimal change nephrotic syndrome (MCNS).
The study involved 32 childhood-onset cases (mean age at onset: 8.6 years) and 19 adult-onset cases (mean age at onset: 30.6 years) of frequently relapsing steroid-dependent MCNS, all of whom received intravenous rituximab drip infusion (375 mg/m2 body surface area per dose) at 4 time points at 6-month intervals. Relapse frequency, oral dose of immunosuppressants, and adverse effects were compared between the 2 groups.
Remission was maintained in all cases in the childhood-onset and adult-onset groups; a significant reduction in relapse frequency was noted during the first 24 months of rituximab therapy (0.3 ± 0.7 times and 0.3 ± 0.6 times in the childhood-onset and adult-onset groups, respectively; P < .001). Oral corticosteroid therapy could be discontinued in 81.3% of cases of the childhood-onset group (26/32 cases) and in 70.6% of cases of the adult-onset group (12/17 cases); the oral corticosteroid dose was reduced significantly to 0.9 ± 2.5 mg/day in the childhood-onset group and to 0.8 ± 1.6 mg/day in the adult-onset group (P < .001). Cyclosporin treatment was also discontinued in 87.5% of cases in the childhood-onset group (21/24 cases) and in 80.0% of cases of the adult-onset group (15/21 cases); the oral cyclosporin dose was reduced significantly to 8.6 ± 27.4 mg/day and 9.2 ± 22.0 mg/day, respectively (P < .001). Regarding adverse reactions, infusion reactions developed at a frequency of 21.1% and 19.7% in both groups, respectively, with no significant inter-group difference (P = .72).
Rituximab showed significant efficacy in adult-onset MCNS, with a comparable incidence of adverse reactions to that in childhood-onset cases, suggesting that this drug can also be used safely in adult-onset MCNS.
Correlation between CTLA4 genetic polymorphisms, its serum protein level and the susceptibility to recurrent spontaneous abortion
Authors: Li Li , Liu Jia , Qin Shuang , Li Ruiman 
Published: October 2018

Abstract
Present study was aimed to detect the influence of cytotoxic T-lymphocyte associated protein 4 (CTLA4) gene polymorphisms for the risk of recurrent spontaneous abortion (RSA), as well as the serum level of CTLA4 protein in RSA patients.
One hundred thirty-three RSA patients and 146 healthy persons were recruited in this case–control study. PCR-RFLP was used to genotype the CTLA4 gene polymorphisms both in case and control groups. Serum level of CTLA4 was detected by ELISA kit. Quantitative variables were compared by t test or Mann–Whitney U test between groups. Qualitative variables were evaluated by χ
2 test or Fisher exact test. Association strength was expressed by odds ratios (ORs) and 95% confidence intervals (95% CIs).
G allele of rs4553808 (P = .027, OR = 0.570, 95% CI = 0.345–0.942) and T allele of rs5742909 (P = .027, OR = 0.570, 95% CI = 0.345–0.942) were distinctly associated with reduced susceptibility of RSA. Distinctly negative association has been discovered between rs231775 AA genotype and RSA susceptibility (P = .040, OR = 0.427, 95% CI = 0.188–0.973). CTLA4 protein had significantly higher serum level in RSA patients than in healthy controls (P = .028). In RSA patients, AA genotype carriers had higher CTLA4 serum level than that GG genotype carriers (17.83 ± 6.35 ng/mL vs 10.41 ± 7.28 ng/mL, P = .039).
Minor alleles of CTLA4 polymorphisms might inhibit the RSA susceptibility via upregulated the protein expression level.
The distinguishable DNA whole genome methylation profile of 2 cases of pediatric precursor B acute lymphoblastic leukaemia (BCP ALL) with prodromal, preleukemic phase
Authors: Chaber Radosław , Gurgul Artur , Wróbel Grażyna , Tomoń Anna , Paszek Sylwia , Potocka Natalia , Haus Olga , Lejman Monika , Łach Kornelia , Szmatoła Tomasz , Jasielczuk Igor , Rybka Blanka , Ryczan-Krawczyk Renata , Stąpor Sylwia , Ciebiera Krzysztof , Arthur Christopher J. , Zawlik Izabela 
Published: October 2018

AbstractRationale:A prolonged, prodromal phase before definitive paediatric precursor B acute lymphoblastic leukaemia (BCP ALL) diagnosis is rarely observed.Patients concerns:In the first, the patient presented with an aplastic preleukemic phase, whilst the second presented with a rheumatic-like preliminary phase.Diagnoses:The case reports of two patients with BCP ALL with a prodromal phase lasting a few weeks are presented.Interventions and outcomes:DNA whole genome profile methylation analysis of bone marrow cells obtained at diagnosis revealed a pattern of methylation that was readily distinguishable from both healthy and standard course BCP ALL bone marrow samples.Lessons:The biological implication of this observation remains unclear, with many differentially methylated loci involved in many processes like neurogenesis, cell projection organization and adhesion along with leucocyte activation and apoptosis. The prevalence and clinical significance of these methylation changes is unknown but this data indicates that the epigenetic basis of BCP ALL with a prolonged, prodromal phase requires a more detailed assessment.
Treatment of focal dystonia involving multiple muscles with a single injection of botulinum toxin A to 1 muscle
Authors: Lee Sung Young , Lee Hyeok Dong , Cho Young-Shin , Han Seung Hoon 
Published: October 2018

Abstract

Rationale
Botulinum toxin A (BTX-A) injection is effective in treating focal dystonia. However, there are no prior reports regarding the treatment of progressive focal dystonia by a single BTX-A injection that affect a distant muscle.

Patient concerns
A 19-year-old male was referred to the rehabilitation clinic with a complaint of involuntary movement in his left big toe. The involuntary movement pattern was initially observed in the abduction direction only; however, it progressed to irregular mixed patterns in the flexion and abduction directions.

Diagnoses
In needle electromyography, abnormal dystonic patterns were observed in the left abductor hallucis (AH), flexor hallucis longus, and flexor hallucis brevis muscles.

Interventions and outcomes
These symptoms resolved with a single BTX-A injection to the AH muscle.

Lessons
In this case, a single BTX-A injection to 1 muscle for treating progressive focal dystonia was effective on a distant noninjected muscle.
SLICC damage index score in systemic lupus erythematosus patients and its associated factors
Authors: Ghazali Wan Syamimee Wan , Daud Saidatul Manera Mohd , Mohammad Nurashikin , Wong Kah Keng 
Published: October 2018

Abstract
The aims of this study were to determine damage index in systemic lupus erythematosus (SLE) patients based on Systemic Lupus International Collaborating Clinics/American College of Rheumatology (SLICC/ACR) Damage Index (SDI) and to determine the laboratory and clinico-demographic factors affecting SDI.
This is a retrospective cohort study of 94 SLE patients attending rheumatology clinics in 2 local hospitals in Kelantan, Malaysia. The patients were divided into 2 groups based on SDI score assigned by the attending physician, 0 (without damage) or ≥1 (with damage). Newly diagnosed SLE patients with disease duration less than 6 months were excluded.
A total of 45 (47.9%) SLE patients showed damage by SDI score. Majority of the subjects had neuropsychiatric damages (21/94; 22.3%) followed by skin (12/94; 12.8%) and musculoskeletal (6/94; 6.4%) damage. SDI score was significantly associated with higher disease duration (6.2 ± 6.57 years vs 4.5 ± 3.7 years; P = .018), lower prednisolone dose (8.74 ± 10.89 mg vs 4.89 ± 3.81 mg; P < .001), hypertension (P = .007), and exposure to cyclophosphamide (P = .004). Hypertension (P = .020), exposure to cyclophosohamide (P = 0.013), and lower prednisolone dose (P = .023) were significantly associated with damage by multivariable analysis.
Higher SDI score was significantly associated with exposure to cyclophosphamide, suggesting that lower cyclophosphamide doses or alternative therapeutic agents are recommended.
Osteoblastoma of the frontal bone invading the orbital roof
Authors: Wang Kun , Yu Feidan , Chen Keng , Niu Huanjiang , Wang Yirong , Yang Shuxu , Cai Xiujun 
Published: October 2018

Abstract

Rationale:
Osteoblastoma is an uncommon primary bone tumor that involves any part of the skeleton. But its occurrence in the skull is extremely rare.

Patients concerns:
A 30-year-old female was admitted to our hospital, because of the mass in the right frontal region with the history of headache for 3 years without nausea or vomiting.

Diagnosis:
Initial differential diagnoses included hemangiopericytoma, atypical intraosseous meningioma, calvarial osteosarcoma, fibrous dysplasia, and histiocytosis, based on the results of enhanced CT and MRI.

Interventions:
A total surgical resection of the mass was performed.

Outcomes:
Postoperative histopathologic analysis demonstrated the typical features of osteoblastoma, the benign bone neoplasm. Serial radiologic examination did not show recurrence in the 6 months follow-up.

Lessons:
The radiologic appearance of the osteoblastoma is always confusing and makes the diagnosis difficult. We hope our case can give some clinical clues for the diagnosis and management of the disease.
Infections and internal medicine patients
Authors: Fabbian Fabio , De Giorgi Alfredo , Boari Benedetta , Misurati Elisa , Gallerani Massimo , Cappadona Rosaria , Cultrera Rosario , Manfredini Roberto , Rodrìguez Borrego Maria A. , Lopez-Soto Pablo J. 
Published: October 2018

Abstract
Infectious diseases (ID) are frequently cause of internal medicine wards (IMW) admission. We aimed to evaluate risk factors for in-hospital mortality (IHM) in IMW patients with ID, and to test the usefulness of a comorbidity score (CS).
This study included ID hospital admissions between January 2013, and December 2016, recorded in the database of the local hospital. ICD-9-CM codes were selected to identify infections, development of sepsis, and to calculate a CS.
We analyzed 12,173 records, (age 64.8 ± 25.1 years, females 66.2%, sepsis 9.3%). Deceased subjects (1545, 12.7%) were older, had higher percentage of sepsis, pulmonary infections, and endocarditis. Mean value of CS was also significantly higher. At multivariate analysis, the odds ratio (OR) for sepsis (OR 5.961), endocarditis (OR 4.247), pulmonary infections (OR 1.905), other sites of infection (OR 1.671), and urinary tracts infections (OR 0.548), were independently associated with IHM. The CS (OR 1.070 per unit of increasing score), was independently associated with IHM as well. The calculated weighted risk, obtained by multiplying 1.070 for the mean score value in deceased patients, was 19.367. Receiver operating characteristic (ROC) analysis showed that CS and development of sepsis were significant predictors for IHM (area under the curve, AUC: 0.724 and 0.670, respectively).
Careful evaluation of comorbidity in internal medicine patients is nowadays matter of extreme importance in IMW patients hospitalized for ID, being IHM related to severity of disease, type and site of infection, and also to concomitant comorbidities. In these patients, a careful evaluation of CS should represent a fundamental step in the disease management.
Prognostic value of serum proadrenomedullin in catheter-related bloodstream infection in the intensive care unit
Authors: Ni Juping , Sun Yingjie , Qu Hongping , Wang Aqian , Cao Yunshan , Li Xiang 
Published: October 2018

Abstract
Patients with catheter-related bloodstream infection (CRBSI) have a poor prognosis. Proadrenomedullin (pro-ADM) has emerged as a valuable marker of sepsis. The potential role of pro-ADM in predicting the prognosis of CRBSI was evaluated. We enrolled 25 CRBSI patients and pro-ADM level was measured within 24 hours after each admission. Survival was assessed after 28 days. Among 25 patients with CRBSI, 14 patients survived. Pro-ADM in survivors was significantly lower than that in non-survivors (3.71 ± 1.30 vs 5.58 ± 1.18 nmol/L). The area under the curve (AUC) for pro-ADM was 0.87 (95% CI 0.68–0.97) with a cut-off value of 4.67 nmol/L, providing sensitivity of 85.7% and specificity of 81.8%. The AUCs for PCT, WBC, and CRP were 0.76 (95% CI 0.55–0.90), 0.72 (95% CI 0.50–0.88), and 0.69 (95% CI 0.48–0.86), respectively. Kaplan–Meier survival curves showed pro-ADM ≥ 4.67 nmol/L was associated with higher mortality (log-rank p = 0.001). Moreover, the pro-ADM level was significantly higher in patients with septic shock than those without shock (5.44 ± 1.17 vs 3.54 ± 1.18nmol/L). The mortality of patients with septic shock was higher than that of patients without shock (69.2% vs 16.7%, P = .008). In conclusion, pro-ADM could be used as a prognostic marker of CRBSI in critically ill patients.
A case report of unexpected sudden cardiac death due to aortic rupture following laparoscopic appendectomy
Authors: Joo Chunghee , Min Joo-Won , Noh Giyong , Seo Jaeho 
Published: October 2018

Abstract

Introduction:
Aortic dissection is a very rare but life-threatening condition associated with a high mortality. Unexpected sudden cardiac death due to aortic rupture following laparoscopic appendectomy is very rare and may be difficult to diagnose. However, early diagnosis of aortic dissection is essential for the timely treatment and outcome of aortic dissection.

Case presentation:
A 50-year-old man underwent a laparoscopic appendectomy. Postoperatively, the patient complained of dyspnea and chest pain. In 25 minutes after arrival in the postanesthesia care unit (PACU), the patient was in asystole. Then, he underwent cardiopulmonary resuscitation (CPR) according to advanced cardiac life support (ACLS) protocol using 1 mg of epinephrine, one 200J DC shock for ventricular fibrillation (V-fib). After that, his noninvasive blood pressure (NIBP) was 80/40 mm Hg, pulse rate (PR) was 140 beats/min, and peripheral oxygen saturation (SpO2) was 84%. His electrocardiogram (ECG) finding was atrial fibrillation (A-fib). After 20 minutes, the patient developed asystole rhythm again and CPR was restarted. He remained severely hypotensive despite vasopressors and died after 5 hours CPR. A forensic autopsy was performed postmoterm and thoracic and abdominal aortic dissection along the root of ascending aorta was present and massive hematoma within right and left thorax was present.

Conclusion:
Acute aortic disease can be difficult to recognize; therefore, diagnosis is sometimes delayed or missed. It is important to recognize the atypical symptoms of aortic dissection and maintain a broad differential diagnosis if patients complained of abdominal pain.
Safety and efficacy of AAIR pacing in selected patients with sick sinus syndrome
Authors: Senaratne Janek , Herath Thiloththama Thisaranie , Beaudette Diane , Irwin Marleen , Gulamhusein Sajad , Senaratne Manohara Piyasiri 
Published: October 2018

Abstract

Background:
The DANPACE study suggested implanting dual-pacing dual-sensing dual-response rate-adaptive (DDDR) pacemakers in patients with sick sinus syndrome, even though 90.7% of their atrial-pacing atrial-sensing inhibited-response rate-adaptive (AAIR) group did not require upgrade. Most centers implant DDDR pacemakers due to risk of future atrioventricular (AV) block. Given that AAIR pacemakers are less expensive, have one less lead with potentially one less point of complication, we question whether DDDR pacemakers are superior to AAIR pacemakers. We aim to describe long-term outcomes of AAIR implants.

Methods:
Patients presenting to the Grey Nuns Hospital in Edmonton, Canada from 1990 to 2012 with sick sinus syndrome without AV block had AAIR pacemakers implanted. Outcomes that were measured over the follow-up time included need for ventricular lead reoperation, incidence of AV block and incidence of sudden cardiac death from AV block.

Results:
During this period, 330 patients presented with sick sinus syndrome. Eighty-seven (26.4%) patients met criteria for and received AAIR pacemakers. Seventy-eight (91.8%) did not require upgrade over mean follow-up of 10.6 ± 0.6 years. Amongst this group, 31 patients (39.7%) were alive, whereas 47 (60.3%) were deceased at end of follow-up due to other comorbidities. No sudden deaths were attributable to AV block. Only 7 patients (8.2%) required ventricular lead reoperation: 2 (2.4%) presented urgently with symptomatic AV block; 3 (3.5%) had atrial fibrillation requiring beta-blockade; 1 (1.2%) had atrial lead dislodgment; and 1 (1.2%) was electively upgraded at battery end-of-life.

Conclusions:
This study looks at safety of AAIR pacemakers with only 2.4% of patients developing AV block requiring urgent upgrade. Approximately 91.8% of patients remained with their original AAIR pacemakers (mean follow-up 10.6 vs 5.4 years in DANPACE). Our findings are similar to the DANPACE study but our conclusions are different as we believe AAIR pacing should be considered for selected patients with sick sinus syndrome without AV block.
Resolution of obstructive sleep apnea after mandibular distraction osteogenesis in setting of delayed tongue–lip adhesion takedown
Authors: Randall Robyn S. , Kian Aaron , Chin Katherine , French Brooke 
Published: October 2018

Abstract

Rationale:
There is a high prevalence of obstructive sleep apnea (OSA) in patients with Pierre Robin sequence (PRS), and treatment approaches are highly variable. One approach is a temporary tongue-lip adhesion (TLA) that acts as a temporizing measure while the mandible continues to grow and is usually taken down at 1 year of age.

Patient concerns:
Side effects of prolonged tongue-lip adhesion and optimal workup and treatment of persistent OSA in the setting of a tongue-lip adhesion.

Diagnoses:
Pierre Robin sequence (PRS), persistent obstructive sleep apnea (OSA), and tongue-lip adhesion (TLA).

Interventions:
Mandibular distraction osteogenesis (MDO), adenotonsillectomy, and tongue-lip adhesion takedown.

Outcomes:
Resolution of OSA.

Lessons:
This case puts into question the efficacy of isolated TLA in infants with Pierre Robin sequence and OSA, and places emphasis on the importance of considering an earlier workup of other potential causes of obstruction and the potential need for MDO as a primary or adjunctive approach to treatment.
Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas
Authors: Li Yuchan , Wang Jian , Tang Jingyan , Wang Zhigang , Han Bingqiang , Li Niu , Yu Tingting , Chen Yulin , Fu Qihua 
Published: October 2018

Abstract
Hereditary multiple osteochondroma (HMO) is one of the most common genetic skeletal disorders. It is caused by mutations in either EXT1 or EXT2 resulting in abnormal skeletal growth and morphogenesis. However, the spectrum and frequency of EXT1 and EXT2 mutations in Chinese patients with HMO was not previously investigated.
Mutations were identified by performing Sanger sequencing analysis of the complete coding regions and flanking intronic sequences of EXT1 and EXT2, followed by multiplex ligation-dependent probe amplification (MLPA) analysis to detect gene deletions or duplications that could not be identified by the Sanger sequencing method.
The present study identified pathogenic mutations in 93% (68/73) of unrelated HMO probands from 73 pedigrees. Mutations in EXT1 and EXT2 were identified in 53% (39/73) and 40% (29/73) of families. We identified 58 distinct mutations in EXT1 and EXT2, including 20 frameshift mutations, 16 nonsense mutations, 7 missense mutations, 9 splice site mutations, 5 large deletions, and 1 in-frame deletion mutation. Twenty-six of these mutations were novel and 32 were previously reported. Most of the mutations in EXT1 were base deletions or insertions (21/33), whereas the majority of those in EXT2 were single base substitution (18/25).
Complete sequencing of both the EXT1 and EXT2 followed by MLPA analysis is recommended for genetic analysis of Chinese patients with HMO. This study provides a comprehensive characterization of the genetic aberrations found in Chinese patients with HMO and highlights the diagnostic value of molecular genetic analysis in this particular disease.