Characterization of Clinical and Radiological Features of Quasi-Moyamoya Disease among European Caucasians Including Surgical Treatment and Outcome

Background: Moyamoya disease (MMD) associated with a potentially underlying disease, such as genetic disorders or other coexisting hematological pathologies, is called quasi-MMD. This very rare disease has been characterized mainly in Asian countries, so far. As MMD reveals several significant ethnic differences, the question is raised whether characteristics of quasi-MMD would also vary among different ethnic backgrounds. Here, we report a series of 61 patients with quasi-MMD and highlight the specific clinical features of this rare disease among European Caucasians. Methods: We retrospectively identified 61 European Caucasians with quasi-MMD who were treated in our institution between 1997 and 2014. We analyzed demographic data, clinical symptoms, associated diseases, angiographic characteristics and functional hemodynamic studies. Results: Thirty-three percent of our patients were juvenile. We observed an overall female predominance of 2.8:1. Seventy-nine percent presented with a typical quasi-MMD with more pronounced unilateral and atypical quasi-MMD in pediatric population (unilateral/atypical: pediatric patients 20/15%, adults 7/7%). We identified a wide range of associated diseases. Overall, 84 and 8% of our cohort presented initially with ischemic and hemorrhagic manifestation, respectively. The hemorrhagic manifestation of quasi-MMD occurred however only in adults. Angiographic analysis revealed steno-occlusive involvement of the posterior circulation (in addition to the anterior circulation) in 31% with a higher involvement in pediatric patients (40%) compared to adults (27%). Conclusions: The characterization of our European Caucasian cohort reveals several differences when compared to reported Asian quasi-MMD cohorts and also compared to European Caucasian MMD cohort. We conclude that quasi-MMD represents a distinct disease with different ethnic clinical features.

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Prodromal Dementia With Lewy Bodies: Evolution of Symptoms and Predictors of Dementia Onset

Journal of Geriatric Psychiatry and Neurology ◽

10.1177/08919887211023586 ◽

2021 ◽

pp. 089198872110235

Author(s):

Kathryn A. Wyman-Chick ◽

Lauren R. O’Keefe ◽

Daniel Weintraub ◽

Melissa J. Armstrong ◽

Michael Rosenbloom ◽

...

Keyword(s):

Clinical Features ◽

Dementia With Lewy Bodies ◽

Clinical Symptoms ◽

Neuropsychiatric Symptoms ◽

Lewy Bodies ◽

Rem Sleep Behavior Disorder ◽

Data Set ◽

Wide Range ◽

Prodromal Dementia ◽

Dementia Onset

Background: Research criteria for prodromal dementia with Lewy bodies (DLB) were published in 2020, but little is known regarding prodromal DLB in clinical settings. Methods: We identified non-demented participants without neurodegenerative disease from the National Alzheimer’s Coordinating Center Uniform Data Set who converted to DLB at a subsequent visit. Prevalence of neuropsychiatric and motor symptoms were examined up to 5 years prior to DLB diagnosis. Results: The sample included 116 participants clinically diagnosed with DLB and 348 age and sex-matched (1:3) Healthy Controls. Motor slowing was present in approximately 70% of participants 3 years prior to DLB diagnosis. In the prodromal phase, 50% of DLB participants demonstrated gait disorder, 70% had rigidity, 20% endorsed visual hallucinations, and over 50% of participants endorsed REM sleep behavior disorder. Apathy, depression, and anxiety were common prodromal neuropsychiatric symptoms. The presence of 1+ core clinical features of DLB in combination with apathy, depression, or anxiety resulted in the greatest AUC (0.815; 95% CI: 0.767, 0.865) for distinguishing HC from prodromal DLB 1 year prior to diagnosis. The presence of 2+ core clinical features was also accurate in differentiating between groups (AUC = 0.806; 95% CI: 0.756, 0.855). Conclusion: A wide range of motor, neuropsychiatric and other core clinical symptoms are common in prodromal DLB. A combination of core clinical features, neuropsychiatric symptoms and cognitive impairment can accurately differentiate DLB from normal aging prior to dementia onset.

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Moyamoya disease in pediatric patients: outcomes of neurosurgical interventions

Neurosurgical FOCUS ◽

10.3171/foc/2008/24/2/e16 ◽

2008 ◽

Vol 24 (2) ◽

pp. E16 ◽

Cited By ~ 80

Author(s):

Anand Veeravagu ◽

Raphael Guzman ◽

Chirag G. Patil ◽

Lewis C. Hou ◽

Marco Lee ◽

...

Keyword(s):

Clinical Outcomes ◽

Moyamoya Disease ◽

Pediatric Patients ◽

Pediatric Population ◽

Small Populations ◽

Age Group ◽

Radiological Findings ◽

Advantages And Disadvantages ◽

Pediatric Age Group ◽

Revascularization Procedures

✓Neurosurgical interventions for moyamoya disease (MMD) in pediatric patients include direct, indirect, and combined revascularization procedures. Each technique has shown efficacy in the treatment of pediatric MMD; however, no single study has demonstrated the superiority of one technique over another. In this review, the authors explore the various studies focused on the use of these techniques for MMD in the pediatric population. They summarize the results of each study to clearly depict the clinical outcomes achieved at each institution that had utilized direct, indirect, or combined techniques. In certain studies, multiple techniques were used, and the clinical or radiological outcomes were compared accordingly. Direct techniques have been shown to aid a reduction in perioperative strokes and provide immediate revascularization to ischemic areas; however, these procedures are technically challenging, and not all pediatric patients are appropriate candidates. Indirect techniques have also shown efficacy in the pediatric population but may require a longer period for revascularization to occur and perfusion deficits to be reversed. The authors concluded that the clinical efficacy of one technique over another is still unclear, as most studies have had small populations and the same outcome measures have not been applied. Authors who compared direct and indirect techniques noted approximately equal clinical outcomes with differences in radiological findings. Additional, larger studies are needed to determine the advantages and disadvantages of the different techniques for the pediatric age group.

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Clinical, genetic and microbiological characterization of pediatric patients with Cystic Fibrosis in a Public Hospital in Ecuador

10.21203/rs.2.12767/v4 ◽

2020 ◽

Author(s):

Yazmina Lascano-Vaca ◽

Esteban Ortiz-Prado ◽

Lenin Gomez-Barreno ◽

Katherine Simbaña-Rivera ◽

Eduardo Vasconez ◽

...

Keyword(s):

Cystic Fibrosis ◽

Public Hospital ◽

Pediatric Patients ◽

Pediatric Population ◽

Clinical Genetic ◽

Cross Sectional ◽

Genetic Feature ◽

Bacteriological Profile ◽

Sectional Analysis

Abstract Background: To carry out a complete clinical, pathological, genetic and microbiological characterization of pediatric patients with molecular confirmed cystic fibrosis (CF) attending the Carlos Andrade Marín Hospital (HCAM) within the study period. Methods: A cross-sectional analysis of the pediatric population with a confirmed diagnosis of CF disease who attended HCAM , one of the largest tertiary-level hospitals in Ecuador, between 2017 and 2018 was performed. All demographic, clinical and genetic variables were obtained from the electronic medical records (EMR) stored by the hospital. Results: 47 patients with CF were included in the study. Gender distribution was similar between male (48.9%, n = 23) and female patients (51.1%, n = 24). The Tiffeneau-Pinelli index (FEV 1 /FVC) changed significantly after nine months post-diagnosis (85.55 ± 13.26; p < 0.05). The most common pathogenic genetic variants were F508del, found in 52.78% of the cohort (n = 19); H609R, found in 36.11% (n = 13); g.204099A>C, found in 14.1% (n = 7), followed by G85E and the N1303K with 11.11% (n = 3) each. Conclusions: To our best knowledge, this is the first study exploring the clinical, genetic and bacteriological profile of CF’s patients in Ecuador. Within the cohort of patients, an important and unique genetic feature was characterized by the presence of the g.204099A> C and the c.206359C>A homozygous polymorphism as well as the presence of the H609R variant, a mutation only reported among Ecuadorians.

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Clinical Features, Diagnosis and Management of Patients with Suspicion of Fascioliasis in Kohgiluyeh and Boyer-Ahmad Province, Southwestern Iran

Iranian Journal of Parasitology ◽

10.18502/ijpa.v15i1.2530 ◽

2020 ◽

Author(s):

Abdolali MOSHFE ◽

Arash ARIA ◽

Najme ERFANI ◽

Ali JAMSHIDI ◽

Bahador SARKARI ◽

...

Keyword(s):

Clinical Features ◽

Clinical Symptoms ◽

Epigastric Pain ◽

Serological Test ◽

Demographic Data ◽

Clinical Signs ◽

Signs And Symptoms ◽

Diagnosis And Management ◽

History Of ◽

Clinical Signs And Symptoms

Background: In the current study, we described the epidemiological features, clinical presentation, diagnosis and management of patients with suspicion of fascioliasis in Kohgiluyeh and Boyer-Ahmad Province in southwest of Iran. Methods: Overall, 56 patients with suspicion of fascioliasis, based on their clinical signs and symptoms that referred to Clinic of Internal Medicine in Yasuj city, from 2014 to 2016 were enrolled. Demographic data, history of eating aquatic local plants, the chief complains, and laboratory findings were recorded for each patient. Stool samples were obtained from each case for detection of Fasciola eggs. Moreover, blood samples were taken from each patient and evaluated for detection of anti-Fasciola antibodies by an indirect ELISA. Patients who defined as having fascioliasis were treated with triclabendazole and were followed for at least three months for clinical improvement. Results: Serological test was positive in 5 patients. Of these 5 cases, three cases had a history of ingesting raw aquatic vegetables. The main clinical signs and symptoms in positive cases were; abdominal pain (60%), epigastric pain (40%), anemia (60%), and dermal pruritus (20%). Hypereosinophilia was seen in all of 5 positive cases. No Fasciola egg was found in stool specimens of any of the patients. The fascioliasis cases were treated by triclabendazole and clinical symptoms disappeared in all of 5 cases. Conclusion: Our observation further confirmed Yasuj district as a human endemic area for fascioliasis in Iran. The study also highlighted the importance of clinical features together with eosinophilia, as key parameters, in the diagnosis of human fascioliasis. Clinicians need to be aware of this disease and should keep in mind fascioliasis when hypereosinophilia present in patients in such endemic areas.

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Intubation Related Laryngeal Injuries in Pediatric Population

Frontiers in Pediatrics ◽

10.3389/fped.2021.594832 ◽

2021 ◽

Vol 9 ◽

Author(s):

Karma Lambercy ◽

Laurence Pincet ◽

Kishore Sandu

Keyword(s):

Pediatric Patients ◽

Pediatric Population ◽

Laryngeal Edema ◽

Anatomical Site ◽

Vocal Cords ◽

Small Children ◽

Airway Stenosis ◽

Wide Range ◽

Life Threatening ◽

Retention Cysts

Introduction: Laryngeal intubation related lesions (LIRL) in pediatric patients cause extreme morbidity in both elective and emergency settings. It has a wide range of presentations from minor laryngeal edema to a life-threatening airway obstruction. We report here our units' experience with LIRL in neonates, infants, and small children.Material and Methods: This is a retrospective monocentric cohort study between January 2013 and April 2019.Results: Thirty-nine patients with intubation lesions were included in the study. We looked at the lesions type, characteristics, management, and outcome. Half the patients were premature and having comorbidities. Main LIRL were subglottic stenosis (31%), ulcers (26%), granulations (18%), retention cysts (18%), posterior glottic stenosis (13%), and vocal cords edema (5%). Unfavorable lesions causing airway stenosis were associated with an intubation duration of over 1 week and were an important factor in causing airway stenosis (p < 0.05). The endoscopic treatment performed for these lesions was lesion and anatomical site-specific. Tracheostomy was needed in five patients, and was avoided in another two. Seven patients (18%) received open surgery prior to their decannulation.Conclusions: LIRL management is challenging and stressful in the pediatric population and optimal treatment could avoid extreme morbidity in them. Intubation duration and associated comorbidities are important factors in deciding the severity of these lesions. Protocols to prevent the formation of these lesions are critical.

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Clinical, genetic and microbiological characterization of pediatric patients with Cystic Fibrosis in a Public Hospital in Ecuador

10.21203/rs.2.12767/v2 ◽

2019 ◽

Author(s):

Yazmina Lascano-Vaca ◽

Esteban Ortiz-Prado ◽

Lenin Gomez-Barreno ◽

Katherine Simbaña-Rivera ◽

Eduardo Vasconez ◽

...

Keyword(s):

Cystic Fibrosis ◽

Public Hospital ◽

Pediatric Patients ◽

Pediatric Population ◽

Homozygous Mutation ◽

Clinical Genetic ◽

Cross Sectional ◽

Bacteriological Profile ◽

Sectional Analysis

Abstract Objective: To carry out a complete clinical, pathological, genetic and microbiological characterization of pediatric patients with molecular confirmed CF attending the Carlos Andrade Marín Hospital within the study period. Methods: A cross-sectional analysis of the pediatric population with a confirmed diagnosis of cystic fibrosis (CF) disease, who attended one of the largest tertiary-level hospitals in Ecuador between 2017 and 2018 was conducted. All demographic, clinical and genetic variables were obtained from the electronic medical records (EMR) stored by the hospital. Results: 47 patients with CF were included in the study. Gender distribution was similar between male (48.9%, n = 23) and female patients (51.1%, n = 24). The Tiffeneau-Pinelli index (FEV1/FVC) changed significantly after nine months post-diagnosis (85.55 ± 13.26; p <0.05). The most common pathogenic genetic mutations were F508del, found in 52.78% of the cohort (n = 19); H609R, found in 36.11% (n = 13); g.204099A>C, found in 14.1% (n = 7), followed by G85E and the N1303K with 11.11% (n = 3) each. Conclusions: To our best knowledge, this is the first study exploring the clinical, genetic and bacteriological profile of CF’s patients in Ecuador. Due to the lack of universal screening in the country, a large proportion of individuals are being diagnosed or misdiagnosed later than expected, jeopardizing their treatments and prognosis. It is relevant to establish that the presence of the g.204099A> C and the c.206359C>A homozygous mutation variants have only been reported among Ecuadorians. These patients appear to show a less severe CF disease and a better prognosis.

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Detection and Genetic Characterization of Group A Rotavirus Strains Circulating among Children with Acute Gastroenteritis in Japan

Journal of Virology ◽

10.1128/jvi.02342-06 ◽

2007 ◽

Vol 81 (9) ◽

pp. 4645-4653 ◽

Cited By ~ 59

Author(s):

Tung Gia Phan ◽

Pattara Khamrin ◽

Trinh Duy Quang ◽

Shuvra Kanti Dey ◽

Sayaka Takanashi ◽

...

Keyword(s):

Amino Acid ◽

Acute Gastroenteritis ◽

Pediatric Population ◽

Amino Acid Substitutions ◽

Predominant Genotype ◽

Group A Rotavirus ◽

Reverse Transcription Pcr ◽

Wide Range ◽

Group A

ABSTRACT A total of 603 fecal specimens collected from July 2005 to June 2006 from children with acute gastroenteritis, encompassing five different localities in Japan, were screened for group A rotavirus by reverse transcription-PCR. It was found that 117 fecal specimens (19.4%) were positive for group A rotavirus. Rotavirus infection was detected continuously from November to June, with the highest prevalence in April. The G (VP7 genotypes) and P (VP4 genotypes) types were further investigated. The predominant genotype was G1P[8] (70.1%), followed by G3P[8] (17.9%), G9P[8] (6.8%), and G2P[4] (2.6%). A number of unusual G1P[4] combinations were also detected during this study period. A novel nomenclature for G1 is proposed, in which worldwide rotavirus G1 strains are classified into 11 lineages with 17 sublineages. A wide range of amino acid substitutions (up to 34) in VP7 that are specific for G1 lineages and sublineages were identified. Interestingly, only short amino acid motifs located at positions 29 to 75 and 211 to 213 of VP7 defined correctly the phylogenetic G1 lineages and sublineages. Examination of the deduced sequences of antigenic regions of VP7 also revealed multiple particular amino acid substitutions that correlated with the phylogenetic G1 lineages and sublineages. Of note, at least three distinct clusters of rotavirus G1 isolates were cocirculating in the Japanese pediatric population studied.

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Analysis of Unplanned Intensive Care Unit Admissions in Postoperative Pediatric Patients

Journal of Intensive Care Medicine ◽

10.1177/0885066616661152 ◽

2016 ◽

Vol 32 (3) ◽

pp. 204-211 ◽

Cited By ~ 5

Author(s):

Elizabeth K. Landry ◽

Rodney A. Gabriel ◽

Sascha Beutler ◽

Richard P. Dutton ◽

Richard D. Urman

Keyword(s):

Risk Factors ◽

Intensive Care Unit ◽

Intensive Care ◽

Pediatric Patients ◽

Pediatric Population ◽

Multivariate Logistic Regression Analysis ◽

Data Set ◽

Icu Admission ◽

Increased Risk ◽

Wide Range

Background: Currently, there are only a few retrospective, single-institution studies that have addressed the prevalence and risk factors associated with unplanned admissions to the pediatric intensive care unit (ICU) after surgery. Based on the limited amount of studies, it appears that airway and respiratory complications put a child at increased risk for unplanned ICU admission. A more extensive and diverse analysis of unplanned postoperative admissions to the ICU is needed to address risk factors that have yet to be revealed by the current literature. Aim: To establish a rate of unplanned postoperative ICU admissions in pediatric patients using a large, multi-institution data set and to further characterize the associated risk factors. Methods: Data from the National Anesthesia Clinical Outcomes Registry were analyzed. We recorded the overall risk of unplanned postoperative ICU admission in patients younger than 18 years and performed univariate and multivariate logistic regression analysis to identify the associated patient, surgical, and anesthetic-related characteristics. Results: Of the 324 818 cases analyzed, 211 reported an unexpected ICU admission. There was an increased likelihood of unplanned postoperative ICU in infants (age <1 year) and children who were classified as American Society of Anesthesiologists physical status classification of III or IV. Likewise, longer case duration and cases requiring general anesthesia were also associated with unplanned ICU admissions. Conclusion: This study establishes a rate of unplanned ICU admission following surgery in the heterogeneous pediatric population. This is the first study to utilize such a large data set encompassing a wide range of practice environments to identify risk factors leading to unplanned postoperative ICU admissions. Our study revealed that patient, surgical, and anesthetic complexity each contributed to an increased number of unplanned ICU admissions in the pediatric population.

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Comparison Between Multiple and Solitary Fungus Balls: A Retrospective Analysis

Ear Nose & Throat Journal ◽

10.1177/0145561320982188 ◽

2020 ◽

pp. 014556132098218

Author(s):

Hui Li ◽

Yu-Xiao Wu ◽

Min Wang ◽

Zhi-Min Xing ◽

Lin Han

Keyword(s):

Clinical Features ◽

Clinical Symptoms ◽

Perioperative Period ◽

Fungus Ball ◽

Computed Tomography Images ◽

Complex Anatomy ◽

Wide Range ◽

Uncommon Disease ◽

Clinical Records ◽

Fungus Balls

Objectives: The most common type of noninvasive fungal rhinosinusitis is fungus ball (FB), which usually involves a solitary paranasal sinus. Multiple fungus balls (MFBs) are rarely reported in literature. The purpose of this study was to analyze and compare the clinical features of MFBs and solitary fungus ball (SFB). Methods: We retrospectively investigated consecutive cases of FB between 2001 and 2018 and compared the clinical records of SFB with MFBs with respect to demographics, clinical features, location, radiological findings, and operative outcome. Results: A total of 440 SFB and 43 MFBs cases were included in the study. The mean age was 55.3 ± 13.3 and 60.6 ± 10.9 years, respectively ( P = .011). The incidence of MFBs obviously increased from 2001 to 2018. The clinical symptoms and laboratory examination were similar. On computed tomography images, complete opacification, septal deviation, Haller cells, and obstruction of ostiomeatal complex were more common ( P < .05). The incidence of SFB on the left and right sides was similar, while MFBs were seen to involve both sides in 74.4%. Conclusions: Compared with SFB, MFBs showed some special characteristics. The MFBs affected older patients showed wide range of lesions and complex anatomy. Surgical technique is very important. Much more attention should be paid to this not so uncommon disease during the perioperative period.

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Clinical Features, Surgical Treatment, and Long-Term Outcome in Pediatric Patients with Moyamoya Disease in China

Cerebrovascular Diseases ◽

10.1159/000369524 ◽

2015 ◽

Vol 39 (2) ◽

pp. 75-81 ◽

Cited By ~ 39

Author(s):

Xiang-Yang Bao ◽

Lian Duan ◽

Wei-Zhong Yang ◽

De-Sheng Li ◽

Wei-Jian Sun ◽

...

Keyword(s):

Surgical Treatment ◽

Clinical Outcome ◽

Clinical Features ◽

Moyamoya Disease ◽

Pediatric Patients ◽

Term Outcome ◽

Long Term Outcome ◽

Kaplan Meier ◽

Favorable Clinical Outcome

Background: There was few detailed demographic and clinical data about Chinese patients with moyamoya disease. Here we describe the clinical features, surgical treatment, and long-term outcome of pediatric patients with moyamoya disease at a single institution in China. Methods: Our cohort included 288 pediatric patients with moyamoya disease. The demographic and clinical characteristics were obtained by retrospective chart review and long-term outcome was evaluated using the stroke status. Univariate and multivariate logistic regression analyses were performed to determine the risk factors for clinical outcome. The risk of subsequent stroke was determined using the Kaplan-Meier method. Results: The median age for the onset of symptoms was 8.0 years. The ratio of female to male patients was 1:1. Familial occurrence of moyamoya disease was 9.4%. The incidence of postoperative complications was 4.2%. Postoperative ischemic events were identified as predictors of unfavorable clinical outcome, while older age of symptom onset was associated with a favorable clinical outcome. The Kaplan-Meier estimate stroke risk was 5% in the first 2 years, and the 5-year-Kaplan-Meier risk of stroke was 9% after surgery for all patients treated with surgical revascularization. Overall, 86% of patients had an independent life with no significant disability. Conclusion: This long-term survey demonstrated that most surgically treated pediatric patients with MMD maintain good outcomes. Our results indicate that an early diagnosis and active intervention before the establishment of irreversible hemodynamic change are essential to achieve a favorable clinical outcome.

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