bluuebunny/crossref_metadata_2025 huggingface dataset:
Virtual Surgical Planning Decreases Operative Time for Isolated Single Suture and Multi-suture Craniosynostosis Repair
Authors: Andrew Tom W. , Baylan Joseph , Mittermiller Paul A. , Cheng Homan , Johns Dana N. , Edwards Michael S. B. , Cheshier Sam H. , Grant Gerald A. , Lorenz H. Peter
Published: December 2018

Background:

Cranial vault reconstruction is a complex procedure due to the need for precise 3-dimensional outcomes. Traditionally, the process involves manual bending of calvarial bone and plates. With the advent of virtual surgical planning (VSP), this procedure can be streamlined. Despite the advantages documented in the literature, there have been no case-control studies comparing VSP to traditional open cranial vault reconstruction.

Methods:

Data were retrospectively collected on patients who underwent craniosynostosis repair during a 7-year period. Information was collected on patient demographics, intraoperative and postoperative factors, and intraoperative surgical time. High-resolution computed tomography scans were used for preoperative planning with engineers when designing osteotomies, bone flaps, and final positioning guides.

Results:

A total of 66 patients underwent open craniosynostosis reconstruction between 2010 and 2017. There were 35 control (non-VSP) and 28 VSP cases. No difference in age, gender ratios, or number of prior operations was found. Blood loss was similar between the 2 groups. The VSP group had more screws and an increased length of postoperative hospital stay. The length of the operation was shorter in the VSP group for single suture and for multiple suture operations. Operative time decreased as the attending surgeon increased familiarity with the technique.

Conclusions:

VSP is a valuable tool for craniosynostosis repair. We found VSP decreases surgical time and allows for improved preoperative planning. Although there have been studies on VSP, this is the first large case-control study to be performed on its use in cranial vault remodeling.
Direct-Thrombin Inhibitor Utilization in Patients With Heparin-Induced Thrombocytopenia and Undergoing Catheter-Directed Thrombolysis
Authors: Badreldin Hisham A. , Albassam Ghada , Aldoughaim Maha , Alyami Majed
Published: December 2018

Background:

Catheter-directed thrombolysis (CDT) is one of the emerging venous thromboembolism management modalities. There are fairly limited data regarding the use of direct-thrombin inhibitors (DTIs) in patients with heparin-induced thrombocytopenia and undergoing CDT.

Objectives:

The aim of this study was to provide a summary of the available evidence supporting the use of DTIs in patients undergoing CDT.

Methods and Results:

We included 6 case reports in our analysis after searching for peer-reviewed articles and case reports in multiple research engines. Four of the 6 cases used argatroban, and 2 cases used bivalirudin. Alteplase was used in all of the 6 cases. All cases used lower activated partial thromboplastin time target. The average initial dose of alteplase ranged from 0.5 to 3 mg/h. The average duration of CDT was 26 hours (SD, 13 hours). Five patients (83%) survived after the procedure, and no complications were reported.

Conclusions:

The use of DTIs might be safe and effective in selected patients with heparin-induced thrombocytopenia and undergoing CDT.
Healthcare Providers' Perceived Communication Barriers to Offering Palliative Care to Patients With Heart Failure
Authors: Schallmo Marianne K. , Dudley-Brown Sharon , Davidson Patricia M.
Published: December 2018

Context

Heart failure is a chronic complex syndrome that is common and burdensome. International clinical practice guidelines recommend that healthcare providers communicate palliative care options with patients with heart failure.

Objectives

The aim of this study was to conduct an integrative review to evaluate how healthcare providers perceived communication barriers to offering information to individuals in the palliative phase of heart failure.

Methods

Four databases and the gray literature were searched from January 1987 to February 2017. Inclusion and exclusion criteria were applied. Studies were graded for strength and quality using a critical appraisal tool, and key themes were extracted and synthesized.

Results

Ten articles met the full inclusion criteria. Most studies were qualitative or nonexperimental studies of good quality. Authors of several studies found that healthcare providers lacked basic knowledge about palliative care or did not possess sufficient knowledge to effectively provide care. Poor knowledge of palliative care created a barrier between the provider and the patient. Inadequate education or inexperience in palliative care led to the resistance of health providers to implementing a palliative approach.

Conclusions

The results of this review emphasize a lack of knowledge as a barrier to delivering palliative care. Healthcare providers caring for individuals with heart failure need palliative care knowledge, skills, and competencies to ensure that this vulnerable population receives holistic patient-centered care.
Health Economics: The Perspective of a Prosthetic Manufacturer
Authors: Kannenberg Andreas , Seidinger Susanne
Published: December 2018

Health economic evaluations of pharmaceuticals and subsequently medical devices were introduced in the early 1990s and have since developed into a standard decision-making tool for payers to appraise the value of new health technologies. To the prosthetic and orthotic industry, health economics is still a new concept that may help overcome the limitations and restrictions of the current reimbursement system by driving the discussion with payers and their coverage decisions from a purely price-based to a value-based perspective. However, to move the industry in that direction, manufacturers would have to make substantial investments in qualified staff and research funding. This article gives an overview on how iterative health economic modeling could be implemented and how it would transform current research and development processes of prosthetic manufacturers. It would add another aspect to decision making, allowing to identify the most cost-effective option among several potential development projects, or even to terminate development of devices that have no chance to ever be cost-effective. The adoption of health economic methods would probably also have a dramatic impact on the manufacturer community and the marketplace as a whole. Bigger companies that are able and willing to afford the cost to generate clinical evidence and health technology assessments would probably introduce fewer innovations that are supported by better evidence than today. Smaller companies that are unable to absorb the cost would likely have to cooperate or focus on products that fit in the limitations of the current reimbursement system. As a result, we would probably see fewer innovations and many more me-too products. However, that situation would underscore a challenge that innovative manufacturers are already facing today. Payers demand high-quality evidence for new devices but tend to extrapolate the benefits demonstrated for the predicate device to similar, yet-unstudied components. That puts innovative manufacturers that invest in clinical and health economic research at a business disadvantage against technology followers. Therefore, policy makers are advised to hold individual components to comparable standards of demonstrated performance when making decisions on coverage and reimbursement.
Linagliptin-related pancreatitis in a diabetic patient with biliary calculus
Authors: Sevencan Nurhayat Ozkan , Ozkan Aysegul Ertinmaz , Kayhan Burcak
Published: December 2018

Rationale:

Dipeptidyl peptidase-4 inhibitors are commonly used drugs for the treatment of type 2 diabetes mellitus. While acute pancreatitis cases induced by saxagliptin, sitagliptin, and vildagliptin (all of which are members of the dipeptidyl peptidase-4 group) have been reported, there is no clear evidence suggesting that linagliptin may cause pancreatitis, and information in this regard is limited to a few studies. Moreover, no pancreatitis cases have been reported that were directly associated with linagliptin.

Patient concerns:

We present a case of linagliptin-related pancreatitis in a 79-year-old male diabetic patient with biliary calculi. The patient, who was diagnosed with acute pancreatitis 4 months after initiating linagliptin 5 mg/d treatment, was admitted to our hospital.

Diagnoses:

The patient's pancreatic enzymes were high. Ultrasonography showed multiple biliary calculi, and abdominal computed tomography showed edematous pancreatitis.

Interventions:

Linagliptin was discontinued and clinical improvement was achieved with standard acute pancreatitis treatment.

Outcomes:

This is the 1st case report suggesting that linagliptin might be associated with the risk of pancreatitis and could be an etiologic cause of pancreatitis, similar to the other members of its group.

Lessons:

While the results of previous studies stated that there was no data to prove a causal relationship between dipeptidyl peptidase-4 inhibitors and pancreatitis, concerns regarding this subject have continued to arise. Therefore, new and comprehensive studies are needed to determine the long-term effects of dipeptidyl peptidase-4 inhibitors on type 2 diabetes mellitus patients and to shed light on the side effects of these medications.
Analysis of genetic polymorphism of methylenetetrahydrofolate reductase in a large ethnic Hakka population in southern China
Authors: Zhao Pingsen , Hou Jingyuan , Wu Hesen , Zhong Miaocai
Published: December 2018

Methylenetetrahydrofolate reductase (MTHFR) catalyzes conversion of methylene tetrahydrofolate to methylte trahydrofolate. MTHFR C677T polymorphism has been regarded as a risk factor for various vascular diseases. Our study aimed to investigate the distribution frequencies of this polymorphism among Hakka population living in southern China. We retrospectively recruited 5102 unrelated Chinese Hakka subjects. MTHFR C677T polymorphism was tested using the polymerase chain reaction (PCR) and DNA sequencing. A total of 2358 males and 2744 females (aged from 10 years to 101 years) were included in this study. In total, 2835 (55.63%) subjects were homozygous for the C allele (CC), 1939 (38.00%) subjects were heterozygous (CT), and 325 (6.37%) subjects were homozygous for the T allele (TT). The allelic frequency of mutant T was 25.37% with 325 individual homozygous for this defective allele resulting in a frequency of about 6.37% for the TT genotype. According to the study results, the overall frequency of MTHFR C677T genotypes did not differ significantly among the gender and age groups. Our study showed the prevalence of MTHFR C677T polymorphism in a large ethnic Hakka population living in southern China. It would be important implications for the primary prevention of various vascular diseases.
Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome
Authors: Jiang TieJia , Shen Yaping , Chen Huai , Yuan Zhefeng , Mao Shanshan , Gao Feng
Published: December 2018

Dravet syndrome is considered to be one of the most severe types of genetic epilepsy. Mutations in SCN1A gene have been found to be responsible for at least 80% of patients with Dravet syndrome, and 90% of these mutations arise de novo. The variable clinical phenotype is commonly observed among these patients with SCN1A mutations, suggesting that genetic modifiers may influence the phenotypic expression of Dravet syndrome. In the present study, we described the clinical, pathological, and molecular characteristics of 13 Han Chinese pedigrees clinically diagnosed with Dravet syndrome. By targeted-exome sequencing, bioinformatics analysis and Sanger sequencing verification, 11 variants were identified in SCN1A gene among 11 pedigrees including 7 missense mutations, 2 splice site mutations, and 2 frameshift mutations (9 novel variants and 2 reported mutations). Particularly, 2 of these Dravet syndrome patients with SCN1A variants also harbored SCN9A, KCNQ2, or SLC6A8 variants. In addition, 2 subjects were failed to detect any pathogenic mutations in SCN1A and other epilepsy-related genes. These data suggested that SCN1A variants account for about 84.6% of Dravet syndrome in our cohort. This study expanded the mutational spectrum for the SCN1A gene, and also provided clinical and genetic evidence for the hypothesis that genetic modifiers may contribute to the variable manifestation of Dravet syndrome patients with SCN1A mutations. Thus, targeted-exome sequencing will make it possible to detect the interactions of epilepsy-related genes and reveal their modification on the severity of SCN1A mutation-related Dravet syndrome.
Anemia secondary to the use of sodium valproate for preventing postoperative seizures in a 79-year-old man
Authors: Li Chen , Su Lei , Lao Minxi , Zhu Shaofang , Ding Meilin
Published: December 2018

Rationale:

Sodium valproate is a widely used antiepileptic drug and also used to prevent postoperative seizures in neurosurgery. Anemia caused by sodium valproate is occasionally reported and most are from pediatric patients.

Patient concerns:

We present the case of a 79-year-old man who developed anemia in the setting of a short-term sodium valproate therapy for the prevention of postoperative seizures.

Diagnosis:

By testing complete blood count we found anemia and hepatic enzyme elevations arising after 3-week standard dose sodium valproate therapy for preventing postoperative seizures. Our investigations ruled out most of the known causes of anemia including infection, uncontrolled bleeding, underlying systemic disease, malnutrition, immune hemolytic anemia, and neoplasia. On the drug's discontinuation as diagnostic therapy the patient's hemoglobin began to rise spontaneously and liver function returned to normal. Thus anemia secondary to sodium valproate was considered as the most likely diagnosis.

Interventions: Sodium valproate was suspended and the patient was transfused with concentrated red blood cells.

Outcomes:

The hemoglobin recovered obviously on the drug's discontinuation.

Lessons:

Hematologic toxicity of sodium valproate can occur quickly. Regular complete blood count test helps to make prompt diagnosis and drug discontinuation leads to the recovery.
Anesthesia for patient with anti-N-methyl-D-aspartate receptor encephalitis
Authors: Wada Nozomi , Tashima Kayoko , Motoyasu Akira , Nakazawa Harumasa , Tokumine Joho , Chinzei Mieko , Yorozu Tomoko
Published: December 2018

Rationale:

Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is an immune-mediated syndrome caused by the production of antibodies against NMDA receptors. As NMDA receptors are important targets of many anesthetic drugs, the perioperative management of patients with anti-NMDA receptor encephalitis is challenging for anesthesiologists.

Patient concerns:

A 31-year-old woman presented with akinesia and aphasia, which worsened despite steroid therapy.

Diagnosis:

Anti-NMDA receptor encephalitis associated with ovarian teratoma.

Interventions:

Laparoscopic ovarian cystectomy was performed under total intravenous anesthesia (TIVA) with peripheral nerve block (PNB).

Outcomes:

The patient recovered without postoperative complications or any adverse events after surgery.

Lessons:

Ideal anesthesia for a patient with anti-NMDA receptor encephalitis is still under discussion. We decided to perform TIVA with PNB because the effect of propofol on NMDA receptors is considered less than that of volatile anesthetics; moreover, PNB may reduce the amount of propofol and opioids required for anesthesia. To conclude, TIVA with PNB may be the most appropriate method for anesthesia in a patient with anti-NMDA receptor encephalitis undergoing ovarian cystectomy.
Association between sleep duration and musculoskeletal pain
Authors: Chun Min Young , Cho Bum-Joo , Yoo Sang Ho , Oh Bumjo , Kang Ju-Seop , Yeon Cholog
Published: December 2018

Both extremely long and short sleep durations have been associated with increased risk of numerous health problems. This study examined the association between self-reported sleep duration and reporting of musculoskeletal pain in the adult Korean population.

This study included data from 17,108 adults aged ≥50 years, obtained from the Korea National Health and Nutrition Examination Survey 2010–2012 and 2013–2015. Self-reported daily hours slept and the presence of musculoskeletal pain in knee joint, hip joint, or low back were examined. Patients were stratified into 5 groups by their sleep duration: ≤5, 6, 7, 8, or ≥9 h. Multivariate logistic regression analysis was performed, adjusting for covariates including age, sex, marital status, smoking, alcohol use, family income level, education, physical exercise, body mass index (BMI), and stress level.

A U-shaped relationship was observed between the length of sleep duration and the presence of musculoskeletal pain. After adjusting for covariates, sleep duration of ≤5 h or ≥9 h was significantly associated with musculoskeletal pain experienced for more than 30 days over a 3-month period. We also found that the presence of multi-site musculoskeletal pain was significantly higher among those who slept for ≤5 h or ≥9 h than in those who slept for 7 h.

These findings suggest that either short or long sleep duration is associated with musculoskeletal pain among Korean adults.
Efficacy and safety of ultrasound-guided cannulation via the right brachiocephalic vein in adult patients
Authors: Xia Rui , Sun Xingwei , Bai Xuming , Zhou Yubin , Shi Jianming , Jin Yong , Chen Qian
Published: December 2018

Central venous catheter (CVC) insertion is difficult to perform and is a high-risk operation; ultrasound (US)-guided cannulation helps increase the odds of success while reducing the associated complications. The internal jugular vein (IJV) and subclavian vein (SCV) are the most commonly sites in US-guided CVC insertion. In the present study, we evaluated the safety and efficacy of US-guided supraclavicular right brachiocephalic vein (BCV) cannulations in adult patients.

Between January 2016 and December 2017, 428 adult patients requiring 536 CVC insertions underwent ultrasound-guided right BCV cannulation. The success rate and complications related to indwelling catheters were analyzed.

The technical success rate was 98.32% (527/536). The procedure was successful at the first try in 511 cases (95.34%). The mean operation time was 13.26 ± 3.34 minutes. The mean length of catheter introduction was 13.57 ± 3.53 cm. Incidence of intraoperative complications was 2.61%. For 3 patients, the procedure was terminated due to pneumothorax (PNX), and in 11 arterial punctures there were self-limiting hematomas. The incidence of postprocedure complications was 5.97% (32/536). These complications included catheter-related infections (n = 18) and thromboses (n = 14). Insertion lasted an average of 10.68 ± 8.77 days.

Supraclavicular, in-plane, US-guided cannulation of the right BCV is an effective and safe method for inserting central venous catheters in adult patients. It provides another option for catheter access to boost clinical performance in central venous catheterization.
IDH mutations but not TERTp mutations are associated with seizures in lower-grade gliomas
Authors: Duan Wen-chao , Wang Li , Li Ke , Wang Wei-wei , Zhan Yun-bo , Zhang Feng-jiang , Yu Bin , Bai Ya-hui , Wang Yan-min , Ji Yu-chen , Zhou Jin-qiao , Liu Xian-zhi , Zhang Zhen-yu
Published: December 2018

Glioma is the most common malignant tumor in the central nervous system (CNS). Lower-grade gliomas (LGG) refer to Grade II and III gliomas. In LGG patients, seizure often appears as an initial symptom and play an important role in clinical performance and quality of life of the patients. To date, the relationship between the onset of seizures and the molecular pathology in gliomas is still poorly investigated. In this study, we investigate the potential relationship between isocitrate dehydrogenase (IDH)/telomerase reverse transcriptase promoter (TERTp) mutations and preoperative seizures in patients with LGG. 289 adult LGG patients were enrolled in this study. Data of clinical characteristics and molecular pathology were acquired. Sanger sequencing was used to detect IDH/TERTp mutations. Chi-square test was performed to determine if the IDH/TERTp mutations were associated with seizures and seizure types. In 289 LGG patients, preoperative seizures accounted for 25.3% (73/289), IDH mutations accounted for 34.3%(99/289), and TERTp mutations accounted for 44.3% (128/289). The correlation analysis demonstrated that IDH mutation is a significant factor influencing the occurrence of tumor-related epilepsy (P <.001, chi-square test). On the other hand, the statistical analysis revealed no significant correlation between TERTp mutations and seizure in LGG patients (P = .102, chi-square test). The tumor-related epilepsy rates vary among different subgroups according to IDH/TERTp mutations. However, there is no definite correlation between the IDH (P = 1.000, chi-square test)/TERTp (P = .613, chi-square test) mutations and the types of epileptic seizure. IDH mutations are more common in preoperative LGG patients with epileptic symptoms, suggesting that this mutation is positively correlated with seizures. However, there was no significant correlation between TERTp mutations and seizures. Different molecular pathologic types based on IDH/TERTp have different incidences of tumor-associated epilepsy in LGGs.
A huge gastric bezoar treated by traditional Chinese medicine purgative
Authors: Dai Qianlan , Jiang Feng
Published: December 2018

Rationale:

Currently, the mainstream treatment for gastric bezoars is endoscopic lithotripsy. This report describes traditional Chinese medicine (TCM) purgative cured a 62-year-old woman with a huge gastric bezoar accompanied by isolated esophageal venous aneurysms and multiple bleeding gastric ulcers.

Patient concerns:

A 62-year-old woman with several symptoms, including epigastric pain, nausea, and vomiting, hiccups, heartburn, and dark, loose stools. The patient showed abdominal tenderness, positive Murphy sign, hyperactive bowel sounds, a pale tongue with scalloped edges, greasy moss, and pulse moisten. A complementary examination revealed the presence of occult blood in the vomit.

Diagnosis:

The patient was diagnosed with isolated esophageal venous aneurysms, gastric bezoars, and multiple bleeding gastric ulcers. Gastroscopy revealed a 0.6 cm blue uplift, a smooth surface, and a regular and clearly defined dentate line. A large bezoar was observed in the stomach cavity with a dark red blood in the surface. The gastric angle showed multiple lesions, with their largest diameter being 2.5 cm, blood was oozing from these ulcers.

Interventions:

The patient was prescribed a TCM purgative combined with omeprazole enteric-coated tablets. Three days after admission, the patient was diagnosed with isolated esophageal venous aneurysms, gastric bezoars, multiple bleeding gastric ulcers. A specific herbal formula was prescribed to eliminate the bezoar. In addition, conventional western medicine was used for the patient, such as pantoprazole sodium intravenous infusion to inhibit gastric acid and sodium bicarbonate solution orally to soften the gastric bezoar.

Outcomes:

After 5 days, the patient had complete relief from all remaining symptoms, including stomach pain and hiccups. Follow-up gastroscopy revealed that the venous aneurysm and gastric bezoar had disappeared, and the ulcer had reduced in size to approximately 0.6 to 0.8 cm. The patient was discharged after recovery and did not relapse for 3 years.

Lessons:

TCM combined with conventional western medicine to treat huge gastric bezoars and its complications is effective and safe, and worth to be recommended as an alternative to endoscopic lithotripsy.
Health Optimization Program for Elders
Authors: Krol Michael L. , Allen Colette , Matters Loretta , Jolly Graham Aubrey , English William , White Heidi K.
Published: December 2018

Background:

Individuals discharged from the hospital to skilled nursing facilities (SNFs) experience high rates of unplanned hospital readmission, indicating opportunity for improvement in transitional care.

Local Problem:

Local physicians providing care in SNFs were not associated with the discharging hospital health care system. As a result, substantive real-time communication between hospital and SNF physicians was not occurring.

Methods:

A multidisciplinary team developed and monitored implementation of the Health Optimization Program for Elders (HOPE) to improve patient transitions from acute hospital stay to SNFs.

Interventions:

The HOPE used a nurse practitioner (NP) to identify geriatric syndromes, set patient/caregiver expectations, assess rehabilitation potential, clarify goals of care, and communicate information directly to SNF providers.

Results:

The intervention was feasible, addressed unmet needs and errors in the SNF transition process, and was associated with lower 30-day readmission rates compared with concurrent patients not enrolled in the HOPE.

Conclusions:

An NP-led hospital to SNF transitional care program is a promising means of improving hospital to SNF transitions.
Obstetric Anal Sphincter Injuries at Vaginal Delivery: A Review of Recently Published National Guidelines
Authors: Tsakiridis Ioannis , Mamopoulos Apostolos , Athanasiadis Apostolos , Dagklis Themistoklis
Published: December 2018

Importance

Obstetric anal sphincter injuries (OASISs) complicate approximately 1 in 10 deliveries.

Objective

The aims of this study were to review and compare recommendations from recently published national guidelines regarding OASISs at vaginal delivery.

Evidence Acquisition

Three national guidelines on OASISs at vaginal delivery are presented through a descriptive review: Royal College of Obstetricians and Gynaecologists on “The Management of Third- and Fourth-Degree Perineal Tears,” American College of Obstetricians and Gynecologists on “Prevention and Management of Obstetric Lacerations at Vaginal Delivery,” and Society of Obstetricians and Gynaecologists of Canada on “Obstetrical Anal Sphincter Injuries (OASIS): Prevention, Recognition, and Repair.” These guidelines were summarized and compared in terms of prevention and management of OASISs. Quality of evidence was also reviewed based on method of reporting for each guideline.

Results

This published evidence reflects the differences between the national recommendations on the prevention and management of OASISs. Especially, as for the prevention of OASIS, routine use of episiotomy is not recommended, whereas warm perineal compresses and perineal massage during the second stage of labor seem to have a protective role. In the management of OASIS, special care is needed during the repair process of the torn anorectal mucosa and the internal and external anal sphincter. The postoperative use of broad-spectrum antibiotics, oral laxatives, and analgesia is also recommended.

Conclusions

Summarized guidelines can have an impact on special care in prevention and management of OASIS; this may support the reduction of morbidity associated with that entity.

Target Audience

Obstetricians and gynecologists, family physicians.

Learning Objectives

After participating in this activity, the learner should be better able to evaluate prevention strategies on OASISs in the antenatal and intrapartum period; compare management recommendations in cases of OASISs; and plan the appropriate consultation regarding future pregnancies and postpartum care in cases of OASISs.
Automatic Tube Current Modulation and Tube Voltage Selection in Pediatric Computed Tomography
Authors: Papadakis Antonios E. , Damilakis John
Published: December 2018

Objectives

The aim of this study was to investigate the effects of a modern automatic tube current modulation (ATCM) and automatic tube voltage selection (ATVS) system on radiation dose and image quality in pediatric head, and torso computed tomography (CT) examinations for various clinical indications.

Materials and Methods

Four physical anthropomorphic phantoms that represent the average individual as neonate, 1-year-old, 5-year-old, and 10-year-old child were used. Standard head, thorax, and abdomen/pelvis acquisitions were performed with (1) fixed tube current, (2) ATCM, and (3) ATVS. Acquisitions were performed at various radiation dose levels to generate images at different levels of quality. Reference volume CT dose index (CTDIvol), reference image noise, and reference contrast-to-noise ratios were determined. The potential dose reductions with ATCM and ATVS were assessed.

Results

The percent reduction of CTDIvol with ATCM ranged from 8% to 24% for head, 16% to 39% for thorax, and 25% to 41% for abdomen/pelvis. The percent reduction of CTDIvol with ATVS varied on the clinical indication. In CT angiography, ATVS resulted to the highest dose reduction, which was up to 70% for head, 77% for thorax, and 34% for abdomen/pelvis. In noncontrast examinations, ATVS increased dose by up to 21% for head, whereas reduced dose by up to 34% for thorax and 48% for abdomen/pelvis.

Conclusions

In pediatric CT, the use of ATCM significantly reduces radiation dose and maintains image noise. The additional use of ATVS reduces further the radiation dose for thorax and abdomen/pelvis, and maintains contrast-to-noise ratio for the specified clinical diagnostic task.
“Migratory” Pattern of Corticosteroid-Related Multifocal Bone Infarction on Bone Scintigraphy
Authors: Roarke Michael A. , Nguyen Ba D. , Yang Ming , Roarke Michael C.
Published: December 2018

We present serial bone scintigraphy examinations in a 38-year-old woman who presented with posterior left rib pain in the setting of adrenal insufficiency secondary to pituitary damage as a result of radiation treatment for orbital sarcoma.
Sensory Restoration of the Facial Region
Authors: Liu Xiangia , Daugherty Robyn , Konofaos Petros
Published: December 2018

Normal sensitivity of the face is very important for preserving its integrity and function as an efferent source of information for the brain. The trigeminal nerve, which is the largest cranial nerve, conducts most of facial sensory function through its 3 branches: the ophthalmic nerve (V1), the maxillary nerve (V2), and the mandibular nerve (V3). The trigeminal nerve may be damaged by a variety of etiologies including inflammatory disorders, brain tumor resection, trauma, iatrogenic injury, or congenital anomalies. Temporary or permanent damage can lead to numbness, lip-biting injury, corneal anesthesia, and, in the worst scenario, even blindness. Different age groups, mechanisms of the injury, and the time between injury and repair can affect the final result of the nerve repair. Unlike the well-understood facial nerve palsy, so far there is no universal approach to restore the facial sensory function. This article serves to thoroughly review the basic anatomy of trigeminal nerve, diagnosis of sensory nerve dysfunction, and attempts to establish a protocol for treatment and rehabilitation of affected patients.
Mechanical Dilation Using Nylon Monofilament Aids Multisite Lymphaticovenous Anastomosis Through Improving the Quality of Anastomosis
Authors: Yoshida Shuhei , Koshima Isao , Sasaki Ayano , Fujioka Yumio , Nagamatsu Shogo , Yokota Kazunori , Yamashita Shuji , Harima Mitsunobu
Published: December 2018

Lymphaticovenous anastomosis (LVA) is now a common treatment for lymphedema. It is important to create as many bypasses as possible to maximize the efficacy of LVA. We have developed a method whereby nylon monofilaments are placed inside the vessel lumen to act as dilators. We refer to this technique as mechanical dilation (MD) to distinguish it from intravascular stenting. In this study, we investigated the efficacy of the conventional supermicrosurgery technique performed with and without MD as a treatment for lower limb lymphedema. The LVA was performed using conventional supermicrosurgery alone in 10 patients (group without MD) and in combination with MD in another 10 patients (group with MD). The mean number of successful LVAs performed per hour was significantly higher in the group with MD than in the group without MD (1.42 ± 0.16 vs 1.14 ± 0.15;P< 0.05). The mean amount of improvement in the lower extremity lymphedema index was significantly greater in the group with MD than in the group without MD (7.34 ± 1.57 vs 4.41 ± 1.53;P= 0.003 < 0.05). A statistically significant correlation was found between the number of successful LVAs and amount of improvement in lymphedema (r= 0.449,P= 0.047 < 0.05). Our findings suggest that use of MD does not shorten the operating time or increase the number of LVAs that can be performed but may make it possible to increase the number of successful LVAs that can be performed between vessels with a diameter of less than 0.3 mm. Use of MD could increase the improvement rate of lymphedema to a greater extent than that achieved by conventional microsurgery alone.
A Novel Frameshift Mutation of GLI3 Causes Isolated Postaxial Polydactyly
Authors: Ni Feng , Han Gang , Guo Ruiji , Cui Hengqing , Wang Bin , Li Qingfeng
Published: December 2018

Background

GLI3 encodes a transcription factor in the sonic hedgehog signaling pathway, which is essential in regulating the human limb bud development, especially on the anteroposterior axis. Mutations in GLI3 have been confirmed to be associated with various human congenital malformations, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, and isolated polydactyly. A robust gene-phenotype relationship between GLI3 and Greig cephalopolysyndactyly syndrome and Pallister-Hall syndrome has been well elucidated, and less is known about GLI3 mutation–caused isolated polydactyly. This study intended to perform a mutation analysis of GLl3 in a family with isolated polydactyly.

Methods

A 3-generation Chinese family with 19 members was recruited in this study, of which the proband and her mother were affected with polydactyly. The whole-exon sequencing was performed to find mutations, and Sanger sequencing was performed to validate the mutations.

Results

We found a novel heterozygous frameshift mutation of GLI3 (c.1180C > TT, p.P394fs18x) in the proband of a Chinese family with isolated postaxial polydactyly. No mutation was detected in the proband's father or another 2 patients with sporadic preaxial polydactyly.

Conclusions

By systematically reviewing the gene-phenotype relationship, we found that GLI3 p.P394fs18x mutation might be specific for isolated postaxial polydactyly.
Muscle-Splitting Augmentation-Mastopexy
Authors: Lang Stümpfle Rubem , Piccinini Pedro Salomão , Pereira-Lima Lucas Figueras , Valiati André Alves
Published: December 2018

Simultaneous augmentation-mastopexy can achieve excellent patient and surgeon satisfaction but continues to pose a challenge, with revision rates of up to 25%. Recurrent ptosis and poor overall breast shape are 2 common reasons for reoperation, whereas some of the most feared complications is breast implant exposure, infection, and loss secondary to wound breakdown; excessively large implants or too much tension during closure are possible contributing factors. We describe a technique for augmentation-mastopexy combining a muscle-splitting pocket for implant placement along with an inferior flap, which helps secure the implant in place and provides coverage in case of wound dehiscence. A retrospective chart review was performed (January 2015 to December 2017) of women who underwent augmentation-mastopexy with round, textured silicone gel implants using a muscle-splitting technique combined with an inferior de-epithelialized dermoglandular flap. A total of 118 patients (236 breasts) were operated on. Mean follow-up was 13 months (10–42 months). Mean patient age was 33.3 years (24–55 years). Mean operative time was 102.9 minutes (80–135 minutes), and implant size ranged from 175 to 350 mL (mode, 275 mL). There were no cases of implant extrusion, nipple-areola complex ischemia, or surgical site infection; however, 1 patient required revision surgery for implant malposition, and 2 had a postoperative hematoma. In summary, the technique we describe combines 2 established mammaplasty techniques, ensuring upper pole fullness with good cleavage, implant protection in case of wound breakdown, and good patient satisfaction as evidenced by a low revision rate and minimal complications.

Level of Evidence

IV, therapeutic. Evidence obtained from multiple time series with or without the intervention, such as case studies.
Female Sexual Function and Sexual Well-being Before and After Breast Reduction
Authors: Janik Piotr E. , Charytonowicz Daria , Miszczyk Jakub , Charytonowicz Michał
Published: December 2018

Background

Breast reduction is one of the most frequently performed procedures in plastic surgery practice. Patients often undergo this procedure for not only aesthetic but also functional reasons because breast hypertrophy may hinder daily activities because of chronic spinal pain. Breast reduction has a documented impact on quality of life. However, there are only a few reports on the influence of breast reduction on sexuality.

Objective

The aim of the study was to analyze the impact of breast reduction on female sexual dysfunction and on sexual well-being.

Methods

Ours was a pilot cross-sectional 2-cohort study, including 75 females who had undergone breast reduction (post-BRG) and a preoperative group of 27 females with breast hypertrophy awaiting surgery (pre-BRG). Female Sexual Function Index (FSFI), Sexual Quality of Life–Female, and BREAST-Q Reduction/Mastopexy module were assessed within 12 to 36 months postoperatively via e-mail. A review of literature was performed.

Results

The mean total Sexual Quality of Life–Female score was significantly higher in the post-BRG than in the pre-BRG (76.7 ± 11.6 vs 64.4 ± 13.7; P < 0.01). The mean total FSFI score in the pre-BRG was 21 ± 11.4. It was below the FSFI cutoff score for female sexual dysfunction (≤26). In the post-BRG, the total FSFI score was significantly higher (27.4 ± 9.1; P < 0.01). The outcome of the sexual well-being domain of BREAST-Q was significantly higher in the post-BRG (72 ± 14 vs 39.3 ± 14.5; P < 0.01).

Conclusions

Breast reduction procedure has a positive impact on female sexual function, sexual quality of life, and sexual well-being.
Myelin oligodendrocyte glycoprotein antibodies in neuromyelitis optica spectrum disorder
Authors: de Seze Jerome
Published: December 2018

Purpose of review

Neuromyelitis optica spectrum disorder (NMOSD) is a severe inflammatory disease of the central nervous system, particularly characterized by disabling episodes of optic neuritis and longitudinally extensive transverse myelitis. The pathogenic characteristic is the presence of antiaquaporin 4 antibodies (AQP4-Abs) in the cerebrospinal fluid and serum of most of the affected patients. However, a proportion of the patients (around 20–30%) that have a typical phenotype of NMO are seronegative for AQP4-Abs.

Recent findings

A proportion of these seronegative patients (20%) can express antibodies to myelin oligodendrocyte glycoprotein (MOG-Abs). The presence of MOG-Abs in the sera of seronegative NMO patients is associated with typical features of NMO in several patients but in some of them with relapsing episodes of optic neuritis or transverse myelitis.

In this article, we review the clinical and therapeutic aspects of MOG-Ab-positive NMOSD, with a specific focus on optic neuritis.
Estimating driver-tissues by robust selective expression of genes associated with complex diseases or traits
Authors: Jiang Lin , Xue Chao , Chen Shangzhen , Dai Sheng , Chen Peikai , Sham Pak Chung , Wang Haijun , Li Miaoxin
Published: December 2018

The driver tissues or cell-types of many human diseases, in which susceptibility genes cause the diseases, remain elusive. We developed a framework to detect the causal-tissues of complex diseases or traits according to selective expression of disease-associated genes in genome-wide association study (GWAS). The core method of the framework is a new robust z-score to estimate genes’ expression selectivity. Through extensive computing simulations and comparative analyses in a large-scale schizophrenia GWAS, we demonstrate the robust z-score is more sensitive than existing methods to detect multiple selectively expressed tissues, which further lead to the estimation of more biological sensible driver tissues. The effectiveness of this framework is further validated in five representative complex diseases with the usage of GWAS summary statistics and transcript-level expression in GTEx project. Finally, we also demonstrate that the prioritized tissues and the robust selective expression can enhance characterization of directly associated genes of a disease as well. Interesting results include the estimation of lung as a driver tissue of rheumatoid arthritis, consistent with clinical observations of morbidity between rheumatoid arthritis and lung diseases.
Accurate quantification of copy-number aberrations and whole-genome duplications in multi-sample tumor sequencing data
Authors: Zaccaria Simone , Raphael Benjamin J.
Published: December 2018

Copy-number aberrations (CNAs) and whole-genome duplications (WGDs) are frequent somatic mutations in cancer. Accurate quantification of these mutations from DNA sequencing of bulk tumor samples is complicated by varying tumor purity, admixture of multiple tumor clones with distinct mutations, and high aneuploidy. Standard methods for CNA inference analyze tumor samples individually, but recently DNA sequencing of multiple samples from a cancer patient - e.g. from multiple regions of a primary tumor, matched primary/metastases, or multiple time points - has become common. We introduce a new algorithm, Holistic Allele-specific Tumor Copy-number Heterogeneity (HATCHet), that infers allele and clone-specific CNAs and WGDs jointly across multiple tumor samples from the same patient, and that leverages the relationships between clones in these samples. HATCHet provides a fresh perspective on CNA inference and includes several algorithmic innovations that overcome the limitations of existing methods, resulting in a more robust approach even for single-sample analysis. We also develop MASCoTE (Multiple Allele-specific Simulation of Copy-number Tumor Evolution), a framework for generating realistic simulated multi-sample DNA sequencing data with appropriate corrections for the differences in genome lengths between the normal and tumor clone(s) present in mixed samples. HATCHet outperforms current state-of-the-art methods on 256 simulated tumor samples from 64 patients, half with WGD. HATCHet's analysis of 49 primary tumor and metastasis samples from 10 prostate cancer patients reveals subclonal CNAs in only 29 of these samples, compared to the published reports of extensive subclonal CNAs in all samples. HATCHet's inferred CNAs are also more consistent with the reports of polyclonal origin and limited heterogeneity of metastasis in a subset of patients. HATCHet's analysis of 35 primary tumor and metastasis samples from 4 pancreas cancer patients reveals subclonal CNAs in 20 samples, WGDs in 3 patients, and tumor subclones that are shared across primary and metastases samples from the same patient - none of which were described in published analysis of this data. HATCHet substantially improves the analysis of CNAs and WGDs, leading to more reliable studies of tumor evolution in primary tumors and metastases.
Separable roles of the DNA damage response kinase Mec1(ATR) and its activator Rad24(RAD17) within the regulation of meiotic recombination
Authors: Crawford Margaret , Cooper Tim J , Marsolier-Kergoat Marie-Claude , Llorente Bertrand , Neale Matthew J
Published: December 2018

During meiosis, programmed DNA double-strand breaks (DSBs) are formed by the topoisomerase-like enzyme, Spo11, activating the DNA damage response (DDR) kinase Mec1ATR via the checkpoint clamp loader, Rad24(RAD17). At single loci, loss of Mec1 and Rad24 activity alters Spo11-dependent DSB formation and recombination outcome, but their genome-wide roles have not been examined in detail. Here we utilise two distinct methods to characterise the roles Mec1 and Rad24 play in meiotic recombination - deletion of the mismatch repair protein, Msh2, and control of meiotic prophase length via regulation of the Ndt80 transcription factor - to enable genome-wide mapping of meiotic progeny. In line with previous studies, we observe a reduction in the frequency of recombination upon deletion of RAD24 - driven by a shortened prophase. By contrast, loss of Mec1 function increases recombination frequency, consistent with its role in DSB trans-interference. Despite this difference in recombination rate, complex, multi-chromatid events initiated by closely spaced DSBs - a rare event in wild type cells - occur more frequently in the absence of either Rad24 or Mec1, suggesting a loss of spatial regulation at the level of DSB formation. We further demonstrate that Mec1 and Rad24 also have important, yet distinct, roles in the spatial regulation of crossovers (COs). Specifically, excess DSBs forming in the absence of Mec1 are disproportionately channelled into the non-crossover (NCO) and non-interfering CO pathways, reducing the global strength of interference without an explicit change in the frequency of interfering COs. In direct contrast, loss of Rad24 weakens interference via a reduction in the apparent number of interfering COs - similar, but less extreme, to the phenotype of 'ZMM' mutants such as zip3Δ. Collectively, our results highlight novel and unique roles for Rad24 within meiotic recombination - beyond those mediated by activation of Mec1 - and describe new roles for the DDR in several important aspects of meiosis.
When temporal attention lacks confidence
Authors: Recht Samuel , Mamassian Pascal , Gardelle Vincent de
Published: December 2018

Accurate decision-making requires estimating the uncertainty of perceptual events. Temporal attention is known to enhance the selection of a stimulus at a relevant time, but how does this selective process affect a decision’s confidence? Here, we adapted an “Attentional blink” paradigm to investigate the effect of temporal attention on confidence judgments. In a RSVP stream of letters, two targets were cued to induce two successive attentional episodes. We found that the confidence ratings given to an item systematically followed the probability with which this item was reported. This coupling made confidence oblivious to selection delays usually observed when the two targets were separated by long intervals (249ms to 747ms). In particular, during this period, confidence was higher for more delayed item selection. One exception to this relationship between confidence and temporal selection was found when the second target appeared soon after (83ms) the first attentional episode. Here, a strong under-confidence bias was observed. Importantly, however, this early confidence bias did not impact confidence sensitivity in discriminating correct and erroneous responses. These results suggest that temporal attention and confidence can operate at different time scales, a difference which seems to reflect high-level heuristic biases rather than segregated processes for decision and confidence evidence.