bluuebunny/crossref_metadata_2025 huggingface dataset:
Prevalence and Phenotypic Impact of Robertsonian Translocations
Authors: Poot Martin , Hochstenbach Ron
Published: March 2021

Robertsonian translocations (RTs) result from fusion of 2 acrocentric chromosomes (e.g., 13, 14, 15, 21, 22) and consequential losses of segments of the p arms containing 47S rDNA clusters and transcription factor binding sites. Depending on the position of the breakpoints, the size of these losses vary considerably between types of RTs. The prevalence of RTs in the general population is estimated to be around 1 per 800 individuals, making RTs the most common chromosomal rearrangement in healthy individuals. Based on their prevalence, RTs are classified as “common,” rob(13;14) and rob(14;21), or “rare” (the 8 remaining nonhomologous combinations). Carriers of RTs are at an increased risk for offspring with chromosomal imbalances or with uniparental disomy. RTs are generally regarded as phenotypically neutral, although, due to RTs formation, 2 of the 10 ribosomal rDNA gene clusters, several long noncoding RNAs, and in the case of RTs involving chromosome 21, several mRNA encoding genes are lost. Nevertheless, recent evidence indicates that RTs may have a significant phenotypic impact. In particular, rob(13;14) carriers have a significantly elevated risk for breast cancer. While RTs are easily spotted by routine karyotyping, they may go unnoticed if only array-CGH and NextGen sequencing methods are applied. This review first discusses possible molecular mechanisms underlying the particularly high rates of RT formation and their incidence in the general population, and second, likely causes for the elevated cancer risk of some RTs will be examined.
Interrelationships between Survival, Sex, and Blood Pressure in Patients with Multiple System Atrophy
Authors: Gurevich Tanya , Merkin Ludmila , Rozenberg Alina , Fisher Ariel , Atanasova Mishkova-Serafimova Elly , Klepikov Dina , Giladi Nir , Peretz Chava
Published: March 2021

Objective: The aim of this study is to estimate survival among patients with multiple system atrophy-parkinsonian type (MSA-P) or cerebellar type MSA (MSA-C) in relation to blood pressure (BP) measurements, by sex. Methods: A cohort of 99 MSA patients was studied retrospectively. Their BP measurements were obtained during prolonged (40 min, vertical position) drug-free tilt testing. We used K-M survival curves and Cox regression to calculate adjusted (to age of onset) hazard ratios (HRs) of BP measurements on time to death by MSA subtype and sex. Results: Fifty-two MSA patients were males and 47 were females. Sixty-three of them had MSA-P and 36 had MSA-C. The mean age at motor symptom onset was 61.1 ± 10.4 years, and mean disease duration at the time of BP assessment was 8.0 ± 4.7 years. The 2 study groups (MSA-P and MSA-C) did not differ significantly in age at MSA onset, sex ratio, or disease duration. Survival time did not differ between the groups {medians: 12 years (95% confidence interval [CI]: 8–28) and 10 years (95% CI: 8–13), respectively}. The MSA-P group showed a trend towards better survival for males (log-rank p = 0.0925). The maximal diastolic orthostatic BP decline during tilt testing had a borderline positive association with death risk among MSA-C males (adjusted HR = 1.18, p = 0.0665), and systolic BP after 10 min in a supine position had a significant positive association with death risk among MSA-P males (adjusted HR = 1.06, p = 0.0354). Conclusions: The findings of a sex-based difference in the effect of BP on death risk may be important for adjusting the therapeutic approach to MSA patients.
Hypertriglyceridemia Induced by Fluorouracil: A Novel Case Report
Authors: Saito Yoshitaka , Takekuma Yoh , Yuki Satoshi , Komatsu Yoshito , Sugawara Mitsuru
Published: March 2021

We had previously reported on S-1-induced hypertriglyceridemia. Here, we report fluorouracil-induced hypertriglyceridemia in a patient with capecitabine-induced hypertriglyceridemia and the corresponding therapeutic process. A woman in her forties who had experienced grade 3 hypertriglyceridemia due to oxaliplatin + capecitabine was administered fluorouracil ± oxaliplatin + levofolinate calcium + panitumumab; however, grade 4 hypertriglyceridemia occurred after the thirteenth administration. Bezafibrate normalized the elevation. Chemotherapy cessation resulted in its decrease to normal, and bezafibrate was stopped. Nine months after cessation, treatment with fluorouracil + irinotecan + levofolinate calcium + ramucirumab was initiated. After four cycles of treatment, her serum triglyceride levels increased again to grade 3, and then, fenofibrate was administered, resulting in a significant decrease to grade 1–2. Serum triglyceride levels significantly reduced after cessation of the prior fluorouracil-containing regimen, although its elevation was observed again following the latter treatment. Therefore, fluorouracil-induced hypertriglyceridemia was strongly speculated in this case. We have speculated that the most probable cause of tegafur and capecitabine-induced hypertriglyceridemia is fluorouracil or its metabolic enzymes since their end product is fluorouracil in the previous report. Results from this patient suggest that our supposition was correct. Fibrates administration, cessation of the treatment, and monitoring of serum triglyceride level was effective in this case as well as previous reports. Fluorouracil-induced hypertriglyceridemia is associated with the one caused by tegafur and capecitabine and presents the possibility of severe complications. Elucidation of its exact mechanism and epidemiological features is needed for better understanding.
First Resection of a Cavoatrial Renal Tumor Thrombus in a Pediatric Patient in Central America Based on a Multistage Surgical Safety Strategy Combining Liver Transplant Techniques and Cardiac Surgery
Authors: Castro-Santa Edward , Siles-Víquez Hellen Daniela , Castro-Solano Karla , Brenes-González Javier , Matamoros María A.
Published: March 2021

We herein report the challenging evaluation and planning process involved in performing the first successful surgical resection of a renal tumor with extensive inferior vena cava tumor thrombosis reaching the right atrium in a pediatric patient within the Central American region. In November 2018, the Oncology Department of the National Children’s Hospital in Costa Rica consulted our Center for Liver Transplantation and Hepatobiliary Surgery for the evaluation of a clinical case involving a 6-year-old female patient with progressive Budd-Chiari syndrome caused by a Wilms’ tumor of the right kidney with tumor thrombosis of the inferior vena cava reaching the right atrium. A multistage surgical safety strategy combining liver transplant techniques and cardiac surgery was thereafter designed and implemented, achieving complete excision of the tumor thrombus from the inferior vena cava with right nephrectomy. Postoperatively, the patient exhibited complete clinical resolution of Budd-Chiari syndrome and has remained tumor free with excellent quality of life while pursuing her second grade of primary school education 22 months after the successful implementation of this multistage surgical safety strategy. The combination of liver transplantation techniques and cardiac surgery based on a multistage surgical safety strategy minimized the occurrence of unexpected intraoperative events and allowed for complete renal tumor resection and level IV thrombectomy for the first time in a pediatric patient of a public health system in a developing country within the Central American region.
A Complicated Case of Diffuse Large B-Cell Lymphoma in an Elderly Presenting with Massive Gastrointestinal Bleeding Successfully Treated with R-mini CHOP
Authors: Sunggoro Agus Jati , Dwianingsih Ery Kus , Utomo Bambang Purwanto , Purwanto Ibnu
Published: March 2021

Gastrointestinal lymphoma accounts for up to 20% of all extranodal lymphoma cases. Among them, the ileum is the second most commonly affected site after the stomach. The majority of gastrointestinal lymphoma originates from the B cell lineage. We report the case of 60-year-old male with persistent anemia, hematochezia, and poor performance status (PS). After thorough workup, imaging, and pathological study, the patient was diagnosed with diffuse large B-cell lymphoma of the terminal ileum. He was treated with R-CHOP based chemotherapy with dose tailoring to accommodate his poor PS. His symptoms promptly subsided after the first chemotherapy cycle. After eight cycles of chemotherapy, terminal ileum wall thickening was gone and the patient was disease-free for 6 months. This case report shows that chemotherapy can be beneficial in patients with gastrointestinal lymphoma despite poor PS. Therefore, it should be given when possible with proper dose tailoring.
Long-Term Remission with Ipilimumab/Nivolumab in Two Patients with Different Soft Tissue Sarcoma Subtypes and No PD-L1 Expression
Authors: Zhou Maggie , Bui Nam , Lohman Marta , van de Rjin Matt , Hwang Gloria , Ganjoo Kristen
Published: March 2021

Checkpoint inhibitor therapy has been shown to improve outcomes in multiple solid malignancies; however, data are limited in soft tissue sarcoma. We present two cases of patients with advanced soft tissue sarcoma of different subtypes (dedifferentiated liposarcoma and myxofibrosarcoma) with zero percent PD-L1 expression by immunohistochemistry who were treated with ipilimumab and nivolumab followed by maintenance nivolumab. Both patients had failed multiple lines of systemic treatment and experienced long-term remission after starting ipilimumab and nivolumab. Genetic testing revealed that no genetic mutations were found in common between the two cases. One patient received concurrent cryoablation, which may have sensitized his tumor to immunotherapy. Checkpoint inhibitor therapy may improve outcomes in soft tissue sarcoma regardless of PD-L1 status, especially when combined with cryoablation. Studies are needed to evaluate whether treatment response varies by sarcoma subtype and what molecular markers can be used to guide patient selection.
Structural Brain Changes during the Neonatal Period in a Rabbit Model of Intrauterine Growth Restriction
Authors: Pla Laura , Illa Miriam , Loreiro Carla , Lopez Mari Carmen , Vázquez-Aristizabal Paula , Kühne Britta Anna , Barenys Marta , Eixarch Elisenda , Gratacós Eduard
Published: March 2021

Background: Intrauterine growth restriction (IUGR) is associated with abnormal neurodevelopment, but the associated structural brain changes are poorly documented. The aim of this study was to describe in an animal model the brain changes at the cellular level in the gray and white matter induced by IUGR during the neonatal period. Methods: The IUGR model was surgically induced in pregnant rabbits by ligating 40–50% of the uteroplacental vessels in 1 horn, whereas the uteroplacental vessels of the contralateral horn were not ligated. After 5 days, IUGR animals from the ligated horn and controls from the nonligated were delivered. On the day of delivery, perinatal data and placentas were collected. On postnatal day 1, functional changes were first evaluated, and thereafter, neuronal arborization in the frontal cortex and density of pre-oligodendrocytes, astrocytes, and microglia in the corpus callosum were evaluated. Results: Higher stillbirth in IUGR fetuses together with a reduced birth weight as compared to controls was evidenced. IUGR animals showed poorer functional results, an altered neuronal arborization pattern, and a decrease in the pre-oligodendrocytes, with no differences in microglia and astrocyte densities. Conclusions: Overall, in the rabbit model used, IUGR is related to functional and brain changes evidenced already at birth, including changes in the neuronal arborization and abnormal oligodendrocyte maturation.
Stroke Epidemiology in Oceania: A Review
Authors: Venketasubramanian Narayanaswamy
Published: March 2021

Background and Purpose: Oceania, comprising the regions Australasia, Melanesia, Micronesia, and Polynesia, is home to 42 million living in 8.5 million square kilometres of land. This paper comprises a review of the epidemiology of stroke in countries in this region. Methods: Information on epidemiology of stroke in Oceania was sought from data from the Global Burden of Disease (GBD) study (incidence, mortality, incidence:mortality ratio [IMR], prevalence, disability-adjusted life-years [DALYs] lost due to stroke, and subtypes), World Health Organization (WHO) (vascular risk factors in the community), and PubMed (incidence, prevalence, and stroke subtypes). Data were analyzed by region to allow inter-country comparison within each region. Results: In 2010, age- and sex-standardized stroke mortality rates were lowest in Australasia (29.85–31.67/100,000) and highest in Melanesia and Micronesia (56.04–187.56/100,000), with wide ranges especially in Melanesia. Incidence rates were lowest in Australasia (101.36–105.54/100,000), similarly high elsewhere. Standardized IMR (0.98–3.39) was the inverse of the mortality rates and mirrored the prevalence rates (202.91–522.29/100,000). DALY rates (398.22–3,781.78/100,0000) mirrored the mortality rates. Stroke risk factors show a variable pattern – hypertension is generally the most common medical risk factor among males (18.0–26.6%), while among females, diabetes mellitus is the most common in Micronesia and Polynesia (21.5–28.4%). Among the lifestyle factors, current smoking is the most common in Melanesia among males, while obesity is generally the most common factor among females. Ischaemic stroke comprises 70% of stroke subtypes. Trend data show significant falls in standardized mortality rates and DALYs in most regions and falls in incidence in almost all countries. There is significant economic impact, particularly due to young strokes; some ethnicities are at higher risk than others, for example, Maoris and Pacific Islanders. Conclusions: Stroke is a major healthcare problem in Oceania. Variations in stroke epidemiology are found between countries in Oceania. Data are lacking in some; more research into the burden of stroke in Oceania is needed. With the expected increase in life expectancy and vascular risk factors, the burden of stroke in Oceania will likely rise. Some of the disparities in stroke burden may be addressed by great investment in healthcare.
Regressed Seminoma with Metastases to the Jejunum and Retroperitoneum
Authors: Kashu Nozomi , Oura Shoji , Kataoka Naoki , Makimoto Shinichiro
Published: March 2021

A 66-year-old man with vomiting and weight loss was referred to our hospital. Abdominal computed tomography showed small bowel obstruction caused by a presumed small intestinal tumor. Single-balloon endoscopy showed an ulcerated tumor and marked stenosis of the jejunum. Immunohistochemical staining suggested the tumor to be poorly differentiated or undifferentiated carcinoma. The patient underwent open surgical resection of the jejunal tumor and regional lymph nodes both to improve the quality of life of the patient and to possibly get a cure of the presumed jejunal carcinoma. Pathological examination of the excised tumor and lymph nodes including para-aortic lymph nodes showed large-sized tumor cells and massive lymphocyte infiltrates. Immunostaining showed the tumor cells to be OCT3/4, AE1/AE3, CD117, and D2-40 positive, leading to the diagnosis of metastatic seminoma. With the preoperative diagnosis of a presumed burned-out tumor of the testis, the patient underwent left high orchiectomy. Pathological examination of the left testis showed marked scar tissue, no teratoma elements, and no residual tumor cells. Under the final diagnosis of regressed seminoma, the patient has received combination chemotherapy using bleomycin, etoposide, and cisplatin as adjuvant chemotherapy. Surgical oncologists should take regressed seminoma into their differential diagnosis when the biopsy specimens of the presumed intestinal malignancy show poorly differentiated or undifferentiated atypical cells with massive lymphocyte infiltrates, especially in postpubertal men. Confirmation of a malignant noninvasive component should be another important clue to the appropriate differential diagnosis when choosing between metastatic seminoma and poorly differentiated or undifferentiated intestinal primary malignancies.
Prognostic Value of the Albumin-to-Alkaline Phosphatase Ratio before Chemoradiotherapy in Patients with Nonmetastatic Nasopharyngeal Carcinoma
Authors: Yang Liping , Gao Jing , Zhou Yan , Tao Zhenchao , He Jian , Yang Jing , Wang Ru , Zhang Yangyang , Huang Yifan , Zhou Lingran , Sun Bin
Published: March 2021

Introduction: The aim of this study was to evaluate the prognostic value of the albumin-to-alkaline phosphatase ratio (AAPR) in patients with nonmetastatic nasopharyngeal carcinoma (NPC). Methods: Patients with nonmetastatic NPC who underwent chemoradiotherapy (CRT) were retrospectively analyzed. The AAPR was calculated using the last value of albumin to alkaline phosphatase that was measured within 1 week before CRT. The optimal cutoff value for the AAPR value was determined by an X-tile plot. Propensity score matching (PSM) was performed to balance the differences of the baseline characteristics. The Kaplan-Meier method and log-rank test were used to calculate the survival. A Cox proportional hazards regression model was conducted for the multivariate analysis. Results: Totally, 87 patients with nonmetastatic NPC who underwent CRT were included in the analysis. The optimal cutoff level for the AAPR was 0.46. The group with an AAPR ≤0.46 was more likely to have poorer overall survival (OS), progression-free survival (PFS), and distant metastasis-free survival (DMFS) (p = 0.023, p = 0.031 and p = 0.027, for OS, PFS, and DMFS, respectively). In Cox proportional hazards analysis, high AAPR was a better prognostic predictor. Conclusion: AAPR may be a reliable prognostic index for nonmetastatic NPC patients.
Unusual Presentation of Anal Pain and Tenesmus from Rectal Arteriovenous Malformation Successfully Treated with Ethanol Sclerotherapy
Authors: Hong Jihoon , Lee Sang Yub , Cha Jung Guen , Heo Jun
Published: March 2021

Gastrointestinal arteriovenous malformation (AVM) is reported as one of the possible causes of intestinal bleeding, and its occurrence in the rectum is rare. We report the case of a rectal AVM patient who experienced uncommon symptoms of anal pain and tenesmus and was treated successfully with percutaneous transarterial ethanol sclerotherapy. The patient underwent routine colonoscopy with biopsy at the time of visit; however, an accurate diagnosis was difficult. Subsequent contrast-enhanced computed tomography (CT) and angiography revealed a rectal AVM emerging from the distal inferior mesenteric artery with engorged superior rectal veins. The feeding artery was catheterized, and concurrent transarterial sclerotherapy with 80% ethanol was performed. There was no major complication related to the procedure. Disappearance of AVM nidus and improvement of associated venous congestion were shown by follow-up CT. There was no recurrence of symptoms after 10 months of clinical observation. Transarterial ethanol sclerotherapy is safe and effective in treating rectal AVM and can be considered as one of the nonsurgical treatment options.
Granular Cell Tumor of the Breast Coexisting with Ductal Carcinoma in situ: Case Report
Authors: Ueki Yuko , Horimoto Yoshiya , Shiraishi Akihiko , Arakawa Atsushi , Sai Hyonmi , Saito Mitsue
Published: March 2021

Granular cell tumor (GCT) is a benign tumor arising from Schwann cells. GCT of the breast is rare and while predominantly benign, it can be difficult to differentiate from breast cancer by imaging. While it is not generally associated with breast cancer, we here report a rare case of GCT coexisting with ductal carcinoma in situ (DCIS). A 38-year-old Japanese woman had microcalcification suggestive of malignancy in the right upper breast and a 6-cm well-defined mass in the right lower breast. Ultrasonography showed that the lower mass was circular in shape with a clear border, and internal echo level was slightly uneven. Contrast-enhanced magnetic resonance imaging found that the inside was unevenly contrast-enhanced and showed fast/washout enhanced pattern. Hence, imaging could not exclude malignancy. Pathological diagnosis from biopsies taken from the upper calcification and lower mass was DCIS and GCT, respectively. Imaging showed no evidence of continuity between the two, but the patient elected for mastectomy. Final pathological diagnosis confirmed an S-100-positive and keratin-negative GCT for the lower lesion and no histological evidence of continuity. Although GCT is a rare disease, greater awareness of the disease and its imaging findings is needed to avoid overdiagnosis, particularly when it coexists with breast cancer.
The First Two Liver Transplantations in Syria
Authors: Rayya Fadi
Published: March 2021

Liver transplantation (LT) is the only curative therapy for the end-stage liver diseases and some metabolic disorders which affect the hepatic cell like the Crigler-Najjar syndrome type 1 (CNSI). Although the LT is a routine procedure in many centers worldwide, the postoperative complications such as rejection, arterial thrombosis, and infection remain serious challenges even in big centers. In our paper, we demonstrate the first two LTs in Syria. The first one was performed on 6 February 2016 for an 11-year-old boy suffering from CNSI using an auxiliary LT, but unfortunately, he had a hepatic artery and portal vein thrombosis, so we removed the necrotic graft on the fifth postoperative day, and he survived. The second LT was for a 9-year-old boy, who had cryptogenic liver cirrhosis, and he lived for 31 days after the transplantation. In both transplants, grafts were obtained from living relative donors.
Impact of Vitamin D and Vitamin D Receptor on Risk of Cardiovascular Diseases in Children and Adolescents with Obesity in Sichuan, China: A Cross-Sectional Study
Authors: Xie Hongjian , Min Min , Guo Siqi , Xian Yang , Yang Fan , Wang Xia , Cui Yali , Li Yingying , Liu Xiaojuan
Published: March 2021

Background: Previous studies have demonstrated the close relationship between vitamin D, vitamin D receptor (VDR), and obesity. Nevertheless, few studies have reported wherther the relationship among these is associated with the risk of cardiovascular diseases (CVDs) in Chinese children and adolescents. Objective: The present study aimed to reveal the effects of obesity, serum vitamin D levels, and VDR FokI genotype on the risk of CVDs in children and adolescents in Sichuan, China. Methods: Children and adolescents were recruited into a cross-sectional study. Serum vitamin D levels, serum lipid levels, and VDR FokI gene polymorphisms were measured in the laboratory. The selected lipid factors were used as biomarkers of CVD risk. The impact of obesity, vitamin D levels and VDR FokI genotype on CVD risk factors were investigated. Results: Higher lipid levels were observed in children and adolescents in the obese group, when compared to the nonobese group. In the obese group, the C allele carriers had significantly lower concentrations of lipids, when compared to the TT genotype. C allele carriers who were vitamin D deficient had lower levels of total cholesterol (TC), triglycerides (TG), apolipoprotein B (Apo-B), total cholesterol/high-density lipoprotein cholesterol (TC/HDL-C), low-density lipoprotein cholesterol/high-density lipoprotein cholesterol (LDL-C/HDL-C), and triglycerides/high-density lipoprotein cholesterol (TG/HDL-C), when compared to those with the TT genotype in obese children and adolescents. For vitamin D-insufficient obese children and adolescents, the TC, Apo-B, and TC/HDL-C in the C allele carriers were significantly lower, when compared to those in the TT genotype in obese children and adolescents. Conclusion: Obese children with low vitamin D levels, who are carriers of the C allele of the FokI gene, have lower levels of several biochemical markers of CVD risk, when compared to those who were TT homozygous. Obese children and adolescents may benefit from vitamin D supplementation, terms of lowering their CVD risk, particularly when they are carriers of the C allele of the FokI gene.
Myoclonus Associated with Celiac Disease Responsive to Anti-Epileptics and a Gluten-Free Diet
Authors: Hanna Youstina , Tandon Parul , Gallinger Zane
Published: March 2021

We report on the case of a 61-year-old male who initially presented with a progressive myoclonus and an intention tremor and was subsequently diagnosed with celiac disease. His neurological symptoms improved with anti-epileptic therapy and a gluten-free diet. Possible explanations include a milder disease phenotype or an epileptic component to his myoclonic movement disorder. This case highlights findings of a progressive myoclonic movement disorder, likely linked to celiac disease, and stresses the importance of a gluten-free diet in the management of the neurological manifestations of celiac disease.
Severe Generalized Bullous Fixed Drug Eruption Treated with Cyclosporine: A Case Report and Literature Review
Authors: Barootes Hailey C. , Peebles Erin R. , Matsui Doreen , Rieder Michael , Abuzgaia Awatif , Mohammed Javed A.
Published: March 2021

Generalized bullous fixed drug eruptions (GBFDEs) are rare in the paediatric population. We present the case of a 7-year-old girl with GBFDE believed to be secondary to oral ibuprofen, who experienced rapid resolution of lesions and cessation of blistering with a 3-week course of oral cyclosporine. To the best of our knowledge, this is the first report of a paediatric case of GBFDE treated with cyclosporine. In our report, we review published cases of GBFDE in children, and all adult cases managed with cyclosporine.
A Case of Epidermal Cyst with Underlying Lipoma on the Back: A Rare Presentation
Authors: Kurihara Yuichi , Kawamura Koji , Furue Masutaka
Published: March 2021

The coexistence of epidermal cysts and lipomas at the same site is extremely rare, although epidermal cysts and lipomas are both common benign skin tumors. We present a rare case of an epidermal cyst with underlying lipoma on the back. This case report may simply be a result of coincidence, but the possibility of underlying subcutaneous tumors should be considered before epidermal cyst surgery.
Schwannoma of the Lower Lip: A Case Report of an Unusual Presentation
Authors: Alhammad Ghadah , Alsaad Alaa , Aljohani Tariq , Alajlan Abdulmajeed
Published: March 2021

Schwannoma is a benign neoplasm that originates from the neural sheath of Schwann cells. Although extracranial schwannomas are commonly observed in the head and neck region, only 1% are found in the intraoral cavity. This article describes the first case in the Eastern Mediterranean region of a lower lip schwannoma in a 17-year-old male patient.
Procedure-Related Complications and Survival after Gastrostomy: Results from a Japanese Cohort
Authors: Mawatari Fumihiro , Miyaaki Hisamitsu , Arima Tetsuhiko , Ito Hiroyuki , Matsuki Kei , Fukuda Sachiko , Kita Yoshiko , Fukahori Aiko , Ikematsu Yoshito , Nakao Kazuhiko
Published: March 2021

Introduction: In 2010, a large-scale multi-institutional study in Japan showed a good prognosis for percutaneous endoscopic gastrostomy (PEG). However, the function and efficacy of PEG are not fully understood by patients, families, and health-care professionals; thus, the number of PEG treatments in Japan has declined. Therefore, we aimed to investigate the safety of the PEG procedure and subsequent survival after PEG. Methods: In total, 249 PEGs were performed at Juzenkai Hospital from 2005 to 2017. PEG was originally performed using the pull method and then by a modified introducer method from mid-2011. We examined procedure-related complications and survival rates after PEG. Results: Fifty-one (20.5%) procedure-related complications occurred; emergency surgery was required in 4 cases. Infections accounted for 76.5% (39/51) of complications. More infections occurred with the pull method than with the modified introducer method. The 1-year survival rate was 66.8%; the median survival time was 678 days. Nine patients (3.6%) died within 30 days; no deaths were directly related to PEG. Sex, age, and albumin level before surgery significantly influenced the prognosis. Conclusion: Due to changes in the PEG insertion method and other factors, PEG has become a safer treatment method. Additionally, PEG-based nutritional supplementation is associated with adequate survival.
Intracerebral Hemorrhage in Patients with Neuromyelitis Optica: Case Report with Literature Review for Possible Pathological Association
Authors: Elshony Hosna Saad , Idris Abdelrahman , Al-Ghamdi Abdulaziz , Muddassir Rabia
Published: March 2021

Neuromyelitis optica (NMO) is an autoimmune demyelinating disorder of the central nervous system which is characterized by attacks of optic neuritis and transverse myelitis. An association between NMO and intracerebral hemorrhage (ICH) has been rarely recognized, having been reported only 3 times before. Here we report on a patient with NMO who eventually developed subarachnoid hemorrhage, in order to emphasize that the association between NMO and ICH is mostly not incidental and that the pathological basis for this association should be investigated thoroughly.
Detection of Changes in Renal Blood Flow Using Arterial Spin Labeling MRI
Authors: Kannenkeril Dennis , Janka Rolf , Bosch Agnes , Jung Susanne , Kolwelter Julie , Striepe Kristina , Ott Christian , Martirosian Petros , Schiffer Mario , Uder Michael , Schmieder Roland E.
Published: March 2021

Background: Alteration in kidney perfusion is an early marker of renal damage. The purpose of this study was to evaluate if changes in renal blood flow (RBF) could be detected using MRI with arterial spin labeling (ASL) technique. Methods: RBF as assessed by cortical (CRBF), medullary, and total renal blood flow (TRBF) were measured by MRI with arterial spin labeling (ASL-MRI) using flow-sensitive alternating inversion recovery true fast imaging with steady-state precession sequence. In 11 normotensive healthy individuals (NT) and 11 hypertensive patients (HT), RBF was measured at baseline and after both feet were covered with cold ice packs (cold pressor test) that activates the sympathetic nervous system. In another experiment, RBF was measured in 10 patients with CKD before and after a pharmacological intervention. We compared RBF measurements between the 3 study populations. Results: A significant reduction in CRBF (p = 0.042) and a trend in TRBF (p = 0.053) were observed in response to the activation of the sympathetic nervous system. A trend toward reduction of CRBF (p = 0.051) and TRBF (p = 0.059) has been detected after pharmacological intervention. TRBF was significantly lower in patients with HT and CKD patients compared to NT individuals (NT vs. HT, p = 0.014; NT vs. CKD, p = 0.004). TRBF was lower in patients with CKD compared to HT (p = 0.047). Conclusion: Our data indicate that both acute and short-term changes in RBF could be detected using ASL-MRI. We were able to detect differences in RBF between healthy and diseased individuals by needing only small sample size per group. Thus, ASL-MRI offers an advantage in conducting clinical trials compared to other technologies.
Trigeminal Neuralgia from Acute Sphenoid Sinusitis: Consideration of Anatomical Sphenoid Sinus Variation – A Case Report
Authors: Nomura Kei , Ryu Hiroshi , Nishizawa Shigeru , Yoshimi Ryoko , Oida Izumi
Published: March 2021

Although the etiology of classical trigeminal neuralgia is clearly understood to be neurovascular compression, the exact etiology of trigeminal neuralgia with continuous pain is often unknown. Mild sphenoid sinusitis is not usually considered to induce trigeminal neuralgia, especially when limited to the maxillary nerve. We report a rare case of trigeminal neuralgia of the maxillary nerve caused only by mild sphenoid sinusitis and discuss the significance of the anatomical structure and diagnostic procedures. A 45-year-old woman noticed a sudden onset of temporal pain followed by numbness on her right cheek. Her right gingiva also experienced sensory disturbance. The symptoms gradually subsided after the initial onset, but they persisted. She visited our hospital for further examinations and had no febrile episodes throughout the course. A tingling sensation and sensory disturbance were only identified in the maxillary nerve. No other neurological symptoms were noted. Magnetic resonance imaging revealed mild sphenoid sinusitis on the right side. The absence of the bony boundary between the sphenoid sinus and maxillary nerve was revealed using thin-sliced computed tomography (CT). The patient’s symptoms were diagnosed as maxillary neuropathy caused by mild sinusitis. The bony defect around the maxillary nerve was considered to have affected development of the pathological process. Even mild sphenoid sinusitis can cause inflammation to spread to the maxillary nerve if no bony boundary exists between it and the sphenoid sinus. A coronal CT study is highly beneficial for clarifying the pathophysiological mechanism of trigeminal neuralgia limited to the maxillary nerve.
Hepatic Arterial Infusion Chemotherapy Combined with Radiation Therapy for Advanced Hepatocellular Carcinoma with Tumor Thrombosis of the Main Trunk or Bilobar of the Portal Vein
Authors: Kosaka Yumi , Kimura Tomoki , Kawaoka Tomokazu , Ogawa Yutaro , Amioka Kei , Naruto Kensuke , Yoshikawa Yuki , Kikukawa Chihiro , Suehiro Yosuke , Yamaoka Kenji , Ando Yuwa , Uchikawa Shinsuke , Morio Kei , Nakahara Takashi , Murakami Eisuke , Takahashi Shoichi , Tsuge Masataka , Hiramatsu Akira , Imamura Michio , Chosa Keigo , Awai Kazuo , Nagata Yasushi , Chayama Kazuaki , Aikata Hiroshi
Published: March 2021

Background: Overall survival of patients with advanced hepatocellular carcinoma (HCC) with Vp4 (tumor thrombosis of the main trunk or bilobar of the portal vein) is extremely poor. Purpose: The purpose of this study is to clarify the prognosis of hepatic arterial infusion chemotherapy (HAIC) combined with radiation therapy (RT) for advanced HCC with Vp4 and to analyze the factors that contribute to the prognosis. Methods: In this retrospective cohort study, 51 HCC patients who were treated with HAIC and RT for portal vein tumor thrombosis and met the following criteria were enrolled: (i) with Vp4; (ii) Child-Pugh score of 5–7; (iii) Eastern Cooperative Oncology Group performance status of 0 or 1; (iv) no history of systemic therapy; and (v) from September 2004 to April 2019. Results: Median overall survival and median progression-free survival were 12.1 and 4.2 months, respectively. Multivariate analysis showed >50% of relative tumor volume in the liver (HR, 3.027; p = 0.008) and extrahepatic spread with (HR, 3.773; p = 0.040) as signiﬁcant and independent factors of OS. The total overall response rate (ORR) was 19.6%; ORR in main tumor was 13.7%; and ORR in Vp4 was 51.0%. None of the patients who received HAIC combined with RT for advanced HCC with Vp4 developed hepatic failure. This combination therapy of HAIC with RT was safe and well tolerated in all cases. Conclusion: Combination therapies of HAIC and RT might be good therapy for advanced HCC with Vp4.
Frontal Dysexecutive Syndrome in Brain Tumors: A Pragmatic Insight to an Old Problem
Authors: Dubey Souvik , Ghosh Ritwik , Chatterjee Subhankar , Dubey Mahua Jana , Sengupta Samya , Chatterjee Subham , Kanti Ray Biman , Modrego Pedro J. , Benito-León Julián
Published: March 2021

Brain tumors have long been considered one of the most prevalent causes of potentially reversible cognitive impairment. An accurate underlying cause of cognitive impairment due to brain tumor needs to be evaluated pragmatically. Patterns of cognitive impairment associated with brain tumors depend mainly on their location, lateralization, pathological classification and secondary effects of the treatment, as well as the structural plasticity and diaschisis. Hence, it is not rare that lesions with different locations and histologies may manifest with a similar pattern of cognitive impairment due to the complex interplay of determinants. We herein report 3 patients with brain tumors affecting different locations and with differing histologies, who shared a similar presentation as “frontal dysexecutive syndrome” masqueraded as psychiatric conditions. Detailed examination of saccades and pursuit along with eye movements and conventional motor examinations were essential not only to diagnose brain tumor as the potential cause of cognitive impairment, but also to rule out other coexisting etiologies with completely different underlying pathological mechanisms (i.e., Huntington’s disease in 1 of the cases). A detailed neurological examination, including eye movement assessment, in patients with psychiatric symptoms provides not only important clues to delineate the underlying anatomical substrate involved, but also helps clinicians to make an accurate diagnosis and to select appropriate therapeutic options.
Calcium Phosphate-Coated Titanium Implants in the Mandible: Limitations of the in vivo Minipig Model
Authors: Kämmerer Till , Lesmeister Tony , Palarie Victor , Schiegnitz Eik , Schröter Andrea , Al-Nawas Bilal , Kämmerer Peer W.
Published: March 2021

Introduction: We aimed to compare implant osseointegration with calcium phosphate (CaP) surfaces and rough subtractive-treated sandblasted/acid etched surfaces (SA) in an in vivo minipig mandible model. Materials and Methods: A total of 36 cylindrical press-fit implants with two different surfaces (CaP, n = 18; SA, n = 18) were inserted bilaterally into the mandible of 9 adult female minipigs. After 2, 4, and 8 weeks, we analyzed the cortical bone-to-implant contact (cBIC; %) and area coverage of bone-to-implant contact within representative bone chambers (aBIC; %). Results: After 2 weeks, CaP implants showed no significant increase in cBIC and aBIC compared to SA (cBIC: mean 38 ± 5 vs. 16 ± 11%; aBIC: mean 21 ± 1 vs. 6 ± 9%). Two CaP implants failed to achieve osseointegration. After 4 weeks, no statistical difference between CaP and SA was seen for cBIC (mean 54 ± 15 vs. 43 ± 16%) and aBIC (mean 43 ± 28 vs. 32 ± 6). However, we excluded two implants in each group due to failure of osseointegration. After 8 weeks, we observed no significant intergroup differences (cBIC: 18 ± 9 vs. 18 ± 20%; aBIC: 13 ± 8 vs. 16 ± 9%). Again, three CaP implants and two SA implants had to be excluded due to failure of osseointegration. Conclusion: Due to multiple implant losses, we cannot recommend the oral mandibular minipig in vivo model for future endosseous implant research. Considering the higher rate of osseointegration failure, CaP coatings may provide an alternative to common subtractive implant surface modifications in the early phase post-insertion.
Frontotemporal Dementia with Parkinsonism and Epilepsy Associated with VGKC Antibodies: Case Report and Literature Review
Authors: Saint Matthew , Alakbarzade Vafa , McLean Brendan
Published: March 2021

Antibodies directed against the voltage-gated potassium channel complex (anti-VGKCs) are implicated in several autoimmune conditions including limbic encephalitis and epilepsy. However, emerging evidence suggests that only specific subtypes of anti-VGKCs are pathogenic. We present the case of a 55-year-old man who initially presented with focal unaware seizures and behavioural changes mimicking anti-VGKC-seropositive encephalitis that further progressed to parkinsonism with evidence of frontotemporal dementia and pre-synaptic dopaminergic deficit. Aggressive treatment with immunotherapy was ineffective, and antibody subtyping later revealed the anti-VGKC antibodies to be negative for leucine-rich glioma-associated 1 (LGI1) and contactin-associated protein-like 2 (CASPR2) – the two known pathogenic subtypes. The clinical relevance of so-called “double-negative” anti-VGKCs (i.e., those not directed towards LGI1 or CASPR2) has been called into question in recent years, with evidence to suggest they may be clinically insignificant. Our case emphasises the importance of antibody subtyping in cases of anti-VGKC seropositivity; negative results, particularly when combined with a poor response to immunotherapy, should prompt a rapid reconsideration of the working diagnosis.
Usefulness of Quantitative Bone Single-Photon Emission Computed Tomography/Computed Tomography for Evaluating the Treatment Response of Bone Metastasis in a Lung Cancer Patient
Authors: Kitajima Kazuhiro , Tsuchitani Tatsuya , Takahashi Yoshiyuki , Minami Toshiyuki , Yokoi Takashi , Nakamura Akifumi , Hashimoto Masaki , Kuribayashi Kozo , Kijima Takashi , Hasegawa Seiki , Yamakado Koichiro
Published: March 2021

We report a case of bone metastasis arising from lung cancer, including quantitative values obtained with bone single-photon emission computed tomography/computed tomography (SPECT/CT), which were useful to evaluate the treatment response. The first bone SPECT/CT during pembrolizumab therapy for lung cancer recurrence showed intense 99mTc-HMDP uptake of the right femur head and mild uptake of the left ribs. After the palliative radiotherapy for the right femur head metastasis and chemotherapy, the second bone SPECT/CT showed a decrease in focal uptake of the right femur hip and increasing uptake of the left ribs. There was also new uptake appearance in the sternum, right rib, spine (Th2, Th9, Th12, L4, S1), and bilateral pelvic bone (left ilium, acetabular cartridge, femur, right ilium and ischium). The change of maximum standardized uptake values (SUVmax) for the right femur head and left third and eighth rib bony metastases were −72.6% (from 22.96 to 6.28), +407.7% (from 2.97 to 15.08), and +229.2% (from 2.60 to 8.56), respectively. The change of whole-lesion metabolic bone volume and total bone uptake was +235.4% (from 22.75 to 76.3 cm3) and +219.1% (from 205.0 to 654.09), respectively. Two quantitative bone SPECT/CT images clearly showed the good response of femur head metastasis due to radiotherapy, and progression of other bone metastases regardless of chemotherapy.
Phosphorylation of S6 Protein as a Potential Biomarker in Surgically Treated Refractory Epilepsy
Authors: Chodraui Felipe I. , Garcia Camila Araújo B. , Mendes Niele D. , Santos Marcelo V. , Beggiora Pâmela S. , Silva Stephanya C. , Teixeira Thiago L. , da Silva Lopes Luiza , Saggioro Fabiano P. , Neder Luciano , Machado Hélio R.
Published: March 2021

The tuberous sclerosis complex (TSC), focal cortical dysplasia IIB (FCD IIB), and hemimegalencephaly (HME) exhibit similar molecular features that are dependent on the hyperactivation of the mTOR pathway. They are all associated with refractory epilepsy and the need for surgical resection with varying outcomes. The phosphorylated protein S6 (pS6) is a downstream target of mTOR, whose increased expression might indicate mTOR hyperactivation, but which is also present when there is no alteration in the pathway (such as in FCD type I). We have performed immunohistochemical marking and quantification of pS6 in resected brain specimens of 26 patients clinically and histologically diagnosed with TSC, FCD IIB, or HME and compared this data to a control group of 25 patients, to measure the extent of pS6 positivity and its correlation with clinical aspects. Our results suggest that pS6 may serve as a reliable biomarker in epilepsy and that a greater percentage of pS6 marking can relate to more severe forms of mTOR-dependent brain anomalies.
Septic Shock due to Capnocytophaga: A Case Report
Authors: Jiménez-Álvarez Guillermo , López-Cuenca Sonia , Quesada-Bellver Belén
Published: March 2021

The genus Capnocytophaga spp., recorded for the first time in 1979, comprises gram-negative bacilli, that colonize the oral mucosa of dogs and, to a lesser extent, cats, so that human transmission can be due to biting, scratching or close contact. Though it is not a common cause of infection in humans, it is a potentially serious one, which can occasionally go unnoticed causing sepsis, bacteremia, meningitis and endocarditis. A high clinical suspicion is essential for its diagnosis, especially in high-risk patients, such as alcoholics or splenectomized patients, as time to positivity of blood cultures may take as long as 6 days. Antibiotic treatment should last several weeks.
Sustainability of Quality Improvement Initiatives within the Saudi Ministry of Health Hospitals: An Institutional Overview
Authors: Alasmari Salem , Williams Sharon , Rich Nicholas , Rea David
Published: March 2021

Background: The failure of quality improvement projects has been a global issue that exists within different geographical and organisational contexts. The case of this in the healthcare sector is more obvious, given the complex and contingent characteristics of healthcare organisations. For this reason, healthcare settings require more deliberate thought and extensive efforts to sustain the gains of quality improvement. Within the context of Saudi Arabia, the Ministry of Health (MOH) has long been introducing a number of improvement initiatives and quality accreditation projects to improve hospitals’ performance. These efforts represent precious investments that are supposed to sustain and flourish over time. Summary: The sustainability of the improvement initiatives within the MOH hospitals is still the main struggle. This challenge requires a more holistic analysis that exceeds hospitals’ boundaries by considering the external influences that undermine the capability of these hospitals to sustain the improvement. The institutional environment is one of the most critical dimensions that need to be explored prior to implementing quality improvement initiatives. Understanding the institutional characteristics provides significant overview of the regulatory powers that affect the implementation of quality improvement initiatives within healthcare organisations. Key Messages: An institutional perspective has been employed in this study to provide an overview of the external institutional influences that affect the sustainability of improvement initiatives. This study establishes a baseline for further debate on the mediating role of the institutional powers in determining the sustainability level of quality improvement initiatives within the healthcare sector.
Renal Transplant Hydroureteronephrosis as a Manifestation of Rejection: An Under-Recognized Entity?
Authors: Acharya Ratna , Aly Rasha , Upadhyay Kiran
Published: March 2021

Hydroureteronephrosis (HUN) of the renal transplant (RT) can be obstructive or non-obstructive, refluxing or non-refluxing, and can cause allograft dysfunction. HUN of the RT as a manifestation of rejection is uncommon and has not been described in children. We describe two pediatric RT recipients who presented with late-onset HUN, 5 and 10 years after transplantation. Both had new-onset HUN which occurred at the time of rejection; HUN resolved in both patients after treatment of rejection. Renal function stabilized in both patients without the need for stent or nephrostomy tube placement. There was no obstruction or vesicoureteral reflux (VUR). Edema of the uroepithelial cells leading to transient obstruction causing HUN is a most likely explanation. We conclude that treatment of rejection in patients without obstruction or VUR may lead to resolution of HUN without the need for urological interventions.