scholarly journals Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis

Genes ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 29
Author(s):  
Marzia Pollazzon ◽  
Stefano Giuseppe Caraffi ◽  
Silvia Faccioli ◽  
Simonetta Rosato ◽  
Heidi Fodstad ◽  
...  
Keyword(s):  
Intellectual Development ◽  
Clinical Findings ◽  
The Body ◽  
Molecular Defect ◽  
Consecutive Series ◽  
Motor Abilities ◽  
Pathogenic Variants ◽  
Talipes Equinovarus ◽  
Next Generation Sequencing Ngs

The term “arthrogryposis” is used to indicate multiple congenital contractures affecting two or more areas of the body. Arthrogryposis is the consequence of an impairment of embryofetal neuromuscular function and development. The causes of arthrogryposis are multiple, and in newborns, it is difficult to predict the molecular defect as well as the clinical evolution just based on clinical findings. We studied a consecutive series of 13 participants who had amyoplasia, distal arthrogryposis (DA), or syndromic forms of arthrogryposis with normal intellectual development and other motor abilities. The underlying pathogenic variants were identified in 11 out of 13 participants. Correlating the genotype with the clinical features indicated that prenatal findings were specific for DA; this was helpful to identify familial cases, but features were non-specific for the involved gene. Perinatal clinical findings were similar among the participants, except for amyoplasia. Dilatation of the aortic root led to the diagnosis of Loeys–Dietz syndrome (LDS) in one case. The phenotype of DA type 5D (DA5D) and Escobar syndrome became more characteristic at later ages due to more pronounced pterygia. Follow-up indicated that DA type 1 (DA1)/DA type 2B (DA2B) spectrum and LDS had a more favorable course than the other forms. Hand clenching and talipes equinovarus/rocker bottom foot showed an improvement in all participants, and adducted thumb resolved in all forms except in amyoplasia. The combination of clinical evaluation with Next Generation Sequencing (NGS) analysis in the newborn may allow for an early diagnosis and, particularly in the DAs, suggests a favorable prognosis.

scholarly journals Treatment of vertebral pathological fractures by percutaneous vertebroplasty

2014 ◽  
Vol 13 (3) ◽  
pp. 239-244
Author(s):  
Rodrigo D'Alessandro de Macedo ◽  
Kleber Miranda Linhares
Keyword(s):  
Medical Records ◽  
Small Sample Size ◽  
Pain Scale ◽  
Small Sample ◽  
The Body ◽  
Consecutive Series ◽  
Low Back ◽  
Pathological Fractures ◽  
Pain Symptoms

OBJECTIVE: To evaluate a consecutive series of patients undergoing vertebroplasty for pain control, according to results and complications in the short and medium follow-up. METHODS: Retrospective analysis of medical records of 26 patients undergoing vertebroplasty from January 2007 to December 2010. Patients were evaluated by the questionnaire of assessment of low back pain (Oswestry Index) and the visual analog pain scale (VAS) on the day before surgery, on the second day and 12 months after the procedure. RESULTS: Significant improvement of pain symptoms within 48 hours after surgery was reported in 22 patients (91.6%), two patients (8.32%) showed moderate improvement. Of the 22 patients with significant pain relief, 21 (95.4%) maintained the benefit and one (4.6%) had intense pain (new fracture in the body of L1) at a mean follow up of 12 months. Regarding the Oswestry Index, preoperative average was 52.9%. On the second day and 12 months after surgery this average was 23.6% and 24.5%, respectively; good results according to this index. Two patients were excluded from the study due to incomplete medical records. CONCLUSION: Despite the small sample size and short follow-up, the results of vertebroplasty were effective for the relief of pain symptoms and were safe as regards the risks of complications.

Improving diagnosis of acute appendicitis with atypical findings by Tc-99m HMPAO leukocyte scan

2002 ◽  
Vol 41 (01) ◽  
pp. 37-41 ◽  
Author(s):  
S. Shung-Shung ◽  
S. Yu-Chien ◽  
Y. Mei-Due ◽  
W. Hwei-Chung ◽  
A. Kao
Keyword(s):  
Acute Appendicitis ◽  
False Positive ◽  
False Positive Rate ◽  
Accurate Method ◽  
Clinical Findings ◽  
Pathological Findings ◽  
Lower Quadrant ◽  
Predictive Values ◽  
Positive Rate

Summary Aim: Even with careful observation, the overall false-positive rate of laparotomy remains 10-15% when acute appendicitis was suspected. Therefore, the clinical efficacy of Tc-99m HMPAO labeled leukocyte (TC-WBC) scan for the diagnosis of acute appendicitis in patients presenting with atypical clinical findings is assessed. Patients and Methods: Eighty patients presenting with acute abdominal pain and possible acute appendicitis but atypical findings were included in this study. After intravenous injection of TC-WBC, serial anterior abdominal/pelvic images at 30, 60, 120 and 240 min with 800k counts were obtained with a gamma camera. Any abnormal localization of radioactivity in the right lower quadrant of the abdomen, equal to or greater than bone marrow activity, was considered as a positive scan. Results: 36 out of 49 patients showing positive TC-WBC scans received appendectomy. They all proved to have positive pathological findings. Five positive TC-WBC were not related to acute appendicitis, because of other pathological lesions. Eight patients were not operated and clinical follow-up after one month revealed no acute abdominal condition. Three of 31 patients with negative TC-WBC scans received appendectomy. They also presented positive pathological findings. The remaining 28 patients did not receive operations and revealed no evidence of appendicitis after at least one month of follow-up. The overall sensitivity, specificity, accuracy, positive and negative predictive values for TC-WBC scan to diagnose acute appendicitis were 92, 78, 86, 82, and 90%, respectively. Conclusion: TC-WBC scan provides a rapid and highly accurate method for the diagnosis of acute appendicitis in patients with equivocal clinical examination. It proved useful in reducing the false-positive rate of laparotomy and shortens the time necessary for clinical observation.

Follow-up of Osteomyelitis of Infants with Systemic Serum Parameters and Bone Scintigraphy

1996 ◽  
Vol 35 (04) ◽  
pp. 116-121 ◽  
Author(s):  
G. E Fueger ◽  
M. Vejda ◽  
R. M. Aigner
Keyword(s):  
Bone Scintigraphy ◽  
Antibiotic Treatment ◽  
Diagnostic Value ◽  
Clinical Findings ◽  
Laboratory Findings ◽  
Radiographic Findings ◽  
Serum Parameters ◽  
Wbc Count ◽  
Differential White Blood Cell

Summary Aim: To prevent orthopedic sequelae in acute hematogenous pyogenic osteomyelitis (AHPO) of infants early diagnosis, recognition of recurrence and effective therapy is needed. This retrospective study of 47 infants with bacteriologically confirmed AHPO concerned with an analysis of the diagnostic value of systemic serum parameters compared to bone scintigraphy (BSC). Methods: AHPO was characterized initially and during the course of disease by clinical findings, C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), total and differential white blood cell (WBC) count, BSC, and plain radiography. Results: CRP was the most effective serum parameter for follow- up of disease. The first sign of BSC to signal adequate response to antibiotic treatment was the decrease or normalization of hyperperfusion. Escape from therapy or poor prognosis, even when the serum parameters were normalized, was signaled by the recurrence of focal hyperperfusion and the persistent or increasing local uptake ratios on the 3-h-image over 6 weeks during a course of antibiotic treatment. Conclusion: Antibiotic treatment masks the clinical presentation, and the radiographic findings, causes non-characteristic laboratory findings, but do not prevent the scintigraphic visualization; BSC and serum parameters used in the right completion are the most successful and efficient modalities for follow-up of AHPO. Maintenance of antibiotic therapy should be done until BSC findings have reverted to normal.

Gamma knife radiosurgery as a single treatment modality for large cerebral arteriovenous malformations

2000 ◽  
Vol 93 (supplement_3) ◽  
pp. 113-119 ◽  
Author(s):  
D. Hung-Chi Pan ◽  
Wan-Yuo Guo ◽  
Wen-Yuh Chung ◽  
Cheng-Ying Shiau ◽  
Yue-Cune Chang ◽  
...  
Keyword(s):  
Gamma Knife ◽  
Arteriovenous Malformations ◽  
Radiation Treatment ◽  
Gamma Knife Radiosurgery ◽  
Consecutive Series ◽  
Content Type ◽  
Obliteration Rate ◽  
Complete Obliteration ◽  
Fine Print

Object. A consecutive series of 240 patients with arteriovenous malformations (AVMs) treated by gamma knife radiosurgery (GKS) between March 1993 and March 1999 was evaluated to assess the efficacy and safety of radiosurgery for cerebral AVMs larger than 10 cm3 in volume. Methods. Seventy-six patients (32%) had AVM nidus volumes of more than 10 cm3. During radiosurgery, targeting and delineation of AVM nidi were based on integrated stereotactic magnetic resonance (MR) imaging and x-ray angiography. The radiation treatment was performed using multiple small isocenters to improve conformity of the treatment volume. The mean dose inside the nidus was kept between 20 Gy and 24 Gy. The margin dose ranged between 15 to 18 Gy placed at the 55 to 60% isodose centers. Follow up ranged from 12 to 73 months. There was complete obliteration in 24 patients with an AVM volume of more than 10 cm3 and in 91 patients with an AVM volume of less than 10 cm3. The latency for complete obliteration in larger-volume AVMs was significantly longer. In Kaplan—Meier analysis, the complete obliteration rate in 40 months was 77% in AVMs with volumes between 10 to 15 cm3, as compared with 25% for AVMs with a volume of more than 15 cm3. In the latter, the obliteration rate had increased to 58% at 50 months. The follow-up MR images revealed that large-volume AVMs had higher incidences of postradiosurgical edema, petechiae, and hemorrhage. The bleeding rate before cure was 9.2% (seven of 76) for AVMs with a volume exceeding 10 cm3, and 1.8% (three of 164) for AVMs with a volume less than 10 cm3. Although focal edema was more frequently found in large AVMs, most of the cases were reversible. Permanent neurological complications were found in 3.9% (three of 76) of the patients with an AVM volume of more than 10 cm3, 3.8% (three of 80) of those with AVM volume of 3 to 10 cm3, and 2.4% (two of 84) of those with an AVM volume less than 3 cm3. These differences in complications rate were not significant. Conclusions. Recent improvement of radiosurgery in conjunction with stereotactic MR targeting and multiplanar dose planning has permitted the treatment of larger AVMs. It is suggested that gamma knife radiosurgery is effective for treating AVMs as large as 30 cm3 in volume with an acceptable risk.

Studying Abroad in Nepal: Assessing Impact

2003 ◽  
Vol 9 (1) ◽  
pp. 175-188 ◽  
Author(s):  
Patricia Farrell ◽  
Murari Suvedi
Keyword(s):  
Personal Development ◽  
Intellectual Development ◽  
Longitudinal Research ◽  
Adult Learning Theory ◽  
Academic Program ◽  
The Body ◽  
Study Abroad Programs ◽  
Studying Abroad ◽  
Perceived Impact ◽  
The Impact

The purpose of this study is to analyze the reported or perceived impact of studying in Nepal on student’s academic program, personal development and intellectual development. The study draws upon adult learning theory to analyze survey instrument data, interviews, and case studies to discern the impact of the program on college students and to contribute to the body of longitudinal research on U.S. study abroad programs.

Obesity management through Ayurveda - A Case Study

2017 ◽  
Vol 2 (4) ◽  
Author(s):  
Dheeraj Kumar Tyagi ◽  
Shivakumar .
Keyword(s):  
Clinical Findings ◽  
Dietary Habit ◽  
Unhealthy Lifestyle ◽  
Lifestyle Management ◽  
Before And After ◽  
Effect Of Treatment ◽  
And Control

Lifestyle disorders are one of the biggest threats for the population living unhealthy lifestyle. Sthoulya (Obesity) is one such disorder which creates lot of physical as well as mental disorder to the sufferer. Due to changing lifestyle, comforts and dietary habit lots of individuals changed their life totally. Obesity is a growing disease in developed and developing countries. Prevalence is drastically hike in past few years. Ayurveda, the science of life with which we can manage and control lots of lifestyle disorders. Focusing on dietary and lifestyle management along with treatment, we can overcome the hazards of obesity which is growing in a uncontrolled manner. The available data is based on the clinical findings only. Aim and objective: To assess the effect of “Guru Cha Atarpanam Chikitsa” in the management of Sthoulya. Setting: Swastharakshana evam Yoga, OPD and IPD, SDMCAH, Hassan. Method: Udwarthana, Parisheka, Shamana Aushadhis, Ahara, and Vihara was followed within the treatment duration and effect of treatment was assessed before and after treatment, advised for follow up. Results: The treatment adopted is effective in the management of Sthoulya and to improve the quality of life.

Lynch syndrome-related non-endometrioid endometrial cancer: analysis of outcomes

2019 ◽  
Vol 30 (1) ◽  
pp. 56-61
Author(s):  
Giorgio Bogani ◽  
Maria Grazia Tibiletti ◽  
Maria Teresa Ricci ◽  
Ileana Carnevali ◽  
Viola Liberale ◽  
...  
Keyword(s):  
Endometrial Cancer ◽  
Lynch Syndrome ◽  
Disease Free Survival ◽  
Oncologic Outcomes ◽  
Cox Models ◽  
Matching Algorithm ◽  
Pathogenic Variants ◽  
Propensity Matching ◽  
Endometrioid Endometrial Cancer

ObjectiveWomen with Lynch syndrome have a risk up to 40–60% of developing endometrial cancer, which is higher than their risk of developing colorectal or ovarian cancer. To date, no data on the outcomes of patients with Lynch syndrome diagnosed with non-endometrioid endometrial cancer are available. The goal of this study was to evaluate the outcome of patients with Lynch syndrome diagnosed with non-endometrioid endometrial cancer.MethodsData from consecutive patients diagnosed with Lynch syndrome and with a histological diagnosis of non-endometrioid endometrial cancer were retrospectively collected in two referral institutes in Italy. A case–control comparison (applying a propensity matching algorithm) was performed in order to compare patients with proven Lynch syndrome and controls. Inclusion criteria were: (a) histologically-proven endometrial cancer; (b) detection of a germline pathogenic variant in one of the MMR genes; (c) adequate follow-up. Only carriers of pathogenic or likely pathogenic variants (ie, class 5 and 4 according to the InSiGHT classification) were included in the study. Survival outcomes were assessed using KaplanMeier and Cox models.ResultsOverall, 137 patients with Lynch syndrome were collected. Mean patient age was 49.2 (10.9) years. Genes involved in the Lynch syndrome included MLH1, MSH2, and MSH6 in 43%, 39%, and 18% of cases, respectively. The study population included 27 patients with non-endometrioid endometrial cancer, who were matched 1:2 with patients with sporadic cancers using a propensity matching algorithm. After a median follow-up of 134 months (range 1–295), 2 (7.4%) of the 27 patients developed recurrent disease (3 and 36 months) and subsequently died of disease (7 and 91 months). Patients diagnosed with Lynch syndrome experienced better disease-free survival (HR 7.86 (95% CI 1.79 to 34.5); p=0.006) and overall survival (HR 5.33 (95% CI 1.18 to 23.9); p=0.029) than controls.ConclusionsNon-endometrioid endometrial cancer occurring in patients with Lynch syndrome might be associated with improved oncologic outcomes compared with controls. Genetic/molecular profiling should be investigated in order to better understand the mechanism underlying the prognosis.

Outcomes and Postoperative Complications of Robot-Assisted Laparoscopic Hysterosacropexy: Initial Experience

2015 ◽  
Vol 95 (1) ◽  
pp. 44-49 ◽  
Author(s):  
Maria Angela Cerruto ◽  
Carolina D'Elia ◽  
Francesca Maria Cavicchioli ◽  
Stefano Cavalleri ◽  
Matteo Balzarro ◽  
...  
Keyword(s):  
Uterine Prolapse ◽  
Pelvic Organ ◽  
Consecutive Series ◽  
Complication Rates ◽  
Early Complications ◽  
Robot Assisted ◽  
Female Patients ◽  
The Mean ◽  
Record Review

Background: Pelvic organ prolapse is a common condition, affecting about 50% of women with children. The aim of our study was to evaluate results and complication rates in a consecutive series of female patients undergoing robot-assisted laparoscopic hysterosacropexy (RALHSP). Materials and Methods: We performed a medical record review of female patients with uterine prolapse who had consecutively undergone RALHSP from February 2010 to 2013 at our department. Results: Fifteen patients were included in the analysis. All patients had uterine prolapse stage ≥II and urodynamic stress urinary incontinence. The mean age was 58.26 years. According to the Clavien-Dindo system, 4 out of 15 patients (26.6%) had grade 1 early complications and 1 patient had a grade 2 complication. At a median follow-up of 36 months, there was a significant prolapse relapse rate of 20% (3/15). Conclusion: In our hands RALHSP is easy to perform, with satisfying mid-term outcomes and a low complication rate.

scholarly journals Transcriptome Profile Alterations with Carbon Nanotubes, Quantum Dots, and Silver Nanoparticles: A Review

Genes ◽  
2021 ◽  
Vol 12 (6) ◽  
pp. 794
Author(s):  
Cullen Horstmann ◽  
Victoria Davenport ◽  
Min Zhang ◽  
Alyse Peters ◽  
Kyoungtae Kim
Keyword(s):  
Carbon Nanotubes ◽  
Quantum Dots ◽  
High Throughput Sequencing ◽  
The Body ◽  
Rna Seq ◽  
Mechanisms Of Toxicity ◽  
Promising Tool ◽  
Engineered Nanomaterial ◽  
Next Generation Sequencing Ngs ◽  
Transcriptomic Changes

Next-generation sequencing (NGS) technology has revolutionized sequence-based research. In recent years, high-throughput sequencing has become the method of choice in studying the toxicity of chemical agents through observing and measuring changes in transcript levels. Engineered nanomaterial (ENM)-toxicity has become a major field of research and has adopted microarray and newer RNA-Seq methods. Recently, nanotechnology has become a promising tool in the diagnosis and treatment of several diseases in humans. However, due to their high stability, they are likely capable of remaining in the body and environment for long periods of time. Their mechanisms of toxicity and long-lasting effects on our health is still poorly understood. This review explores the effects of three ENMs including carbon nanotubes (CNTs), quantum dots (QDs), and Ag nanoparticles (AgNPs) by cross examining publications on transcriptomic changes induced by these nanomaterials.

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