scholarly journals Genetic spectrum of Brazilian suspected Bartter Syndrome Patients

2020 ◽  
Author(s):  
Ana Carola Hebbia Lobo Messa ◽  
Juliana Caires de Oliveira Achili Ferreira ◽  
Fernanda Fonseca ◽  
Andreia Rangel-Santos ◽  
Maria Helena Vaisbich
Keyword(s):  
Pediatric Nephrology ◽  
Early Period ◽  
Final Diagnosis ◽  
Bartter Syndrome ◽  
Clinical Findings ◽  
Number Of Patients ◽  
Study Results ◽  
Significant Difference ◽  
Type 3 ◽  
Brazilian Cohort

Abstract Background This paper’s goal is to show the genetic study results of suspected Bartter syndrome (BS) patients followed in a pediatric nephrology reference center in Sao Paulo/Brazil, verify a possible genotype-phenotype correlation and compare the genetic results with those from other regions of the globe. Results This descriptive study included 22 patients (21 families) with clinical diagnosis of BS. Pathogenic variants in BS-related genes were detected in 19/22 patients. No BS-related genes were detected in three patients (one case of Congenital Chloride Diarrhea and two siblings with clinical Antenal BS that, in fact, had Gitelman Syndrome). We observed that 16/19 BS-confirmed patients had CLCNKB mutations (BS type 3) with a large phenotypical diversity. Among them, the deletion of the entire gene (del 1–20) was the most frequent variant detected. Interestingly, we observed that patients with homozygous or heterozygous del 1–20 presented earlier manifestations than patients with other CLCNKB mutations. They presented no other clinical significant difference. Conclusion This study demonstrates the importance of an appropriate investigation of clinically suspected BS patients to rule out pseudo-BS. This data also confirms the difficult to differentiate these patients based just on clinical findings, similar to what has been reported in other studies. There were patients with clinical Antenatal BS in whom the genetic analysis confirmed the final diagnosis of GS or BS type 3. Among BS cases, BS type 3 was the most frequent in this Brazilian cohort and del 1–20 was the most frequently variant detected. In addition, BS type 3 patients with homozygous or heterozygous del 1–20 had earlier manifestations than patients with other CLCNKB mutations. Brazilian community has a particular characteristic miscegenation as well as different origins such as Europeans, Africans and Asians and comparing our results with those from other regions we can suppose the genetic background of this Brazilian cohort is related to African and Portuguese inheritance, probably originated in the early period of immigration (colonization and slavery period). Limitations: low number of patients from a single center. However, as a rare disease all data can contribute to the improvement for diagnosis and treatment.

scholarly journals Reliability of a Virtual Prosthodontic Project Realized through a 2D and 3D Photographic Acquisition: An Experimental Study on the Accuracy of Different Digital Systems

2019 ◽  
Vol 16 (24) ◽  
pp. 5139 ◽  
Author(s):  
Luca Lavorgna ◽  
Gabriele Cervino ◽  
Luca Fiorillo ◽  
Giovanni Di Leo ◽  
Giuseppe Troiano ◽  
...  
Keyword(s):  
Computer Aided Design ◽  
Field Size ◽  
Restorative Treatment ◽  
Number Of Patients ◽  
Study Results ◽  
Significant Difference ◽  
Digital Planning ◽  
3D Scanners ◽  
Aided Design ◽  
3D Methods

Aims: The study aims to assess the accuracy of digital planning in dentistry, evaluating the characteristics of different intraoral 3D scanners and comparing it with traditional imaging 2D recording methods. Specifically, using computer aided design (CAD) software and measuring inside CAD software, authors want to verify the reliability of different models obtained with different techniques and machines. Methods: 12 patients that needed aesthetic restorative treatment were enrolled in the study. All the patients underwent recording data of the height and width dental elements 1.1, 1.2, and 1.3 size using different technologies and comparing 2D with 3D methods. A T test was then applied in order to verify whether there was a statistically significant difference between the measurements obtained, comparing the different tools data (Emerald, TRIOS, Photogrammetry and DSS (Digital Smile System)) with the reference values. Results: No significant differences emerged in the measurements made with the different scanners (Trios 3Shape ®, Planmeca Emerald ®) and photogrammetry. Therefore, what should be underlined regarding the 2D measurements is the speed and simplicity compared to all 3D techniques, so this work can help to better define the field of application and the limits connected to 2D techniques, giving a good window of the technique. Conclusions: The low number of patients is not sufficient to provide statistically significant results, but the digital planning future prospects seem to be promising. This study results highlighted how a photogrammetric scanner for dental arches would only have a much smaller shooting field size and greater accuracy. Despite these considerations, the photogrammetric facial scanner provided excellent results for the measurement of individual teeth, showing a great versatility of use.

scholarly journals Prospective Randomized Blinded Study to Compare Laparoscopic and Open Inguinal Hernioplasty

2020 ◽  
Vol 3 (1) ◽  
pp. 149-154
Author(s):  
Mohd. Ilyas ◽  
Venkat Vaijnath Cholleti
Keyword(s):  
Inguinal Hernia ◽  
Hernia Repair ◽  
Hospital Stay ◽  
Inguinal Hernia Repair ◽  
Randomized Study ◽  
Early Assessment ◽  
Post Operative Pain ◽  
Number Of Patients ◽  
Study Results ◽  
Significant Difference

Background: Hernia is one of the common surgical problems. Repair of inguinal hernia is one of the commonest surgical procedures worldwide, irrespective of country, race or socio-economic status and constitutes a major health-care in every country. Subjects and Methods: This is a randomised prospective study done over 50 patients in the department of general surgery of Kamineni hospitals, LB Nagar, Hyderabad during the period of October 2010 to August 2012 with the aim to compare laproscopic inguinal hernia repair and open inguinal hernia repair with regards to post-operative pain, surgical site infections, hospital stay and time taken to return to work, by a randomized study. Results: Compare laparoscopic and mesh inguinal hernia repairs, there is no significant difference in early assessment with regards to duration of operation, post-operative pain, analgesic requirements on the day of surgery and first post-operative day, hospital stay, return to daily and normal activities and post-operative complications. Conclusion: Laparoscopic mesh hernioplasty still remains to be validated with larger number of patients and longer duration of follow up.

scholarly journals A comparison of tamsulosin and silodosin versus tadalafil in medical expulsive therapy for distal ureteral stone in men: a prospective study

2021 ◽  
Author(s):  
Metin Gur ◽  
Suleyman Tumer Caliskan ◽  
Muhammet Bahaettin Ulu ◽  
Ekrem Akdeniz ◽  
Kemal Ozturk
Keyword(s):  
Clinical Findings ◽  
Ureteral Stones ◽  
Control Group ◽  
Adult Males ◽  
Expulsion Rate ◽  
Medical Expulsive Therapy ◽  
Study Results ◽  
Significant Difference ◽  
Distal Ureteral Stone ◽  
Group 2

Objectives: To evaluate the efficacy of tamsulosin, silodosin, and tadalafil as medical expulsive therapy for distal ureteral stones in men. Methods: Adult males meeting the inclusion criteria were randomized into one of four treatment arms - dexketoprofen (control group), tamsulosin (Group 1), silodosin (Group 2), and tadalafil (Group 3). The stone expulsion rate after four weeks represented the primary endpoint, while the stone expulsion rate at the end of the study and the incidence of adverse events constituted secondary endpoints. Clinical findings were compared between all four drug groups. Results: No statistically significant difference was observed among the groups in terms of age, body mass index, stone futures, expulsion time, pain episodes, or total analgesic use. Expulsion rates in the fourth week were 42.5%, 80%, 82.5%, and 75%, respectively. The stone expulsion rates in groups 1, 2, and 3 were significantly higher than in the control group (p < 0.001). However, the differences between groups 1, 2, and 3 were not statistically significant. No serious adverse effects were observed during the study period. Conclusion: The study results showed a higher expulsion rate in male patients using tamsulosin, silodosin and tadalafil for distal ureteral stones, but no significant superiority between these. All three are safe, effective, and well-tolerated, causing minimal side-effects.

scholarly journals Improved Dysphagia Outcomes in Anchored Spacers Versus Plate-Screw Systems in Anterior Cervical Discectomy and Fusion: A Systematic Review

2019 ◽  
Vol 10 (8) ◽  
pp. 1057-1065
Author(s):  
Mostafa A. Gabr ◽  
Elisabeth Touko ◽  
Amol P. Yadav ◽  
Isaac Karikari ◽  
C. Rory Goodwin ◽  
...  
Keyword(s):  
Systematic Review ◽  
Plate Fixation ◽  
Meta Analysis ◽  
Neck Disability Index ◽  
Chi Square ◽  
Number Of Patients ◽  
Study Results ◽  
Significant Difference ◽  
Dysphagia Outcomes

Study Design: Systematic review and meta-analysis. Objective: To perform a systematic review of clinical outcomes between stand-alone anchored spacers and traditional cages with plate fixation for dysphagia and pseudoarthrosis using data from clinical trials. Methods: Our search protocol was added to PROSPERO register and systematic review using PRISMA method was performed. Then, we systematically searched for studies addressing stand-alone anchored spacers in patients who underwent ACDF. Mean Neck Disability Index (NDI), dysphagia incidence % (Dinc%), and Swallowing–Quality of Life (SQOL) scores during preoperative, immediate postoperative and last follow-up visits were extracted. Chi-square and analysis of variance (ANOVA) tests were used for statistical comparisons ( P ≤ .05). Results: The initial search generated 506 articles in CENTRAL and 40 articles in MEDLINE. Finally, 14 articles were included. Total number of patients was 1173 (583 anchored stand-alone and 590 plate). Dinc% scores were statistically significantly lower in the stand-alone anchored spacer compared to the plate-screw construct ( P ≤ .05). ANOVA showed no statistically significant difference in the comparisons of SQOL. On the other hand, NDI scores were statistically significantly lower in baseline of stand-alone anchored spacer and the plate-screw construct compared with both immediate postoperative and last follow-up visits ( P ≤ .05). Conclusions: Our study results revealed that the stand-alone anchored spacers were associated with less dysphagia in the immediate and last follow-up.

scholarly journals Assessment of Children with Primary Monosymptomatic Enuresis in Terms of Ambulatory Blood Pressure Changes

2021 ◽  
Author(s):  
Hilal Mertek ◽  
Demet Alaygut ◽  
Eren Soyaltın ◽  
Caner Alparslan ◽  
Secil Arslansoyu Çamlar ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Family History ◽  
Ambulatory Blood Pressure ◽  
Pediatric Nephrology ◽  
Control Group ◽  
Laboratory Test Results ◽  
Number Of Patients ◽  
Significant Difference ◽  
History Of ◽  
Pressure Changes

Objective: To evaluate the relationship between blood pressure changes monitored by 24-hour blood pressure measurements and urinary incontinence in children with enuresis. Method: The patients aged 5-18 years who received (patient group), and did not receive (control group) the diagnosis of primary monosymptomatic enuresis, and applied between January 01, 2017 and June 1, 2017, to the outpatient clinics of Izmir Tepecik Training and Research Hospital Department of Pediatric Nephrology and Pediatrics constituted the study group. Demographic data, height, body weight, body mass index, family history of chronic illness, and enuresis, drug use, laboratory test results (blood biochemistry and whole blood count) and ambulatory blood pressure monitoring (ABPM) measurements were compared between groups. Results: Thirty-five (62.5%, Group 1) patients and 21 (37.5%, Group 2) control subjects were included in the study. Demographic properties of the patients were not remarkable. Family history of enuresis was detected in statistically significantly greater number of patients (p=0.001). Any statistically significant difference was not noted when ABPM data of both groups were compared. Conclusion: Discrepancies in the results of various studies concerning the autonomic system changes in enuretic patients, their reflections on blood pressures, and 24-hour blood pressure profiles, in addition to controversial views of the authors about relationship between decreasing urine output and BP depression have necessitated conduction of further studies with larger group of patients.

scholarly journals Efekti sekcije lateralnih retinakula kolena u operativnom lecenju simptomatske patelofemoralne inkongruencije

2006 ◽  
Vol 53 (4) ◽  
pp. 43-47
Author(s):  
M. Apostolovic ◽  
G. Cobeljic ◽  
Z. Blagojevic ◽  
S. Tomic ◽  
N. Slavkovic
Keyword(s):  
Knee Pain ◽  
Anterior Knee Pain ◽  
Knee Extensor ◽  
Clinical Findings ◽  
Lateral Retinacular Release ◽  
Number Of Patients ◽  
Significant Difference ◽  
Before And After ◽  
Anterior Knee ◽  
Knee Extensor Mechanism

Biomechanical malfunction of the knee extensor mechanism in the patello femoral joint is regarded as patella malalignment but major patients complaints are anterior knee pain and patellar slipping. Lateral retinacular release is one of the basic surgical procedures in the treatment of patellar malalignment. The aim of the study was to estimate the achievements of the lateral retinacular release in solving particular biomechanical disorders of the patello femoral joint, as well as individual patients complaints. Evaluation of objective parameters x-ray and clinical findings before and after the operation, shows statistically highly significant difference, thus confirming implementation of the fore mentioned surgical procedure. Despite the fact that anterior knee pain subsided postoperatively in the number of patients, statistically significant values, comparing to the preoperative findings, could not be obtained. Incidence of the patellar slipping has shown statistically significant reduction two years following the surgery. Achieving proper biomechanical alignment of the patello femoral joint is obviously not sufficient to provide relief of subjective complaints, especially concerning anterior knee pain, although considerable improvements were registered in the number of patients.

Color Coding to Facilitate Performance of Focused Attention Tasks with Object Displays

1992 ◽  
Vol 36 (18) ◽  
pp. 1493-1497 ◽  
Author(s):  
Sharolyn A. Converse ◽  
Sandra Kozar ◽  
David Batten
Keyword(s):  
Response Time ◽  
Focused Attention ◽  
System State ◽  
Color Coding ◽  
Color Code ◽  
Attention Task ◽  
State Study ◽  
Study Results ◽  
Significant Difference ◽  
Type 3

A study was performed to test the hypothesis that color coding can be used to enhance the speed and accuracy of performance on a focused attention task when object displays are employed. Subjects performed both a focused attention and an integration task while viewing a rectangle display that represented the readings of four system parameters. The object displays were presented to subjects in one of four color coding conditions: (1) monochrome; (2) parameter type; (3) parameter state; or (4) system state. Study results indicated that the system state color code significantly reduced integration task response time without degrading integration task accuracy. For the focused attention task, there was no significant difference between monochrome and the remaining color code conditions for either response time or accuracy.

Outcomes of a virtual craniofacial clinic for assessing plagiocephaly during the COVID-19 pandemic

2021 ◽  
pp. 1-5
Author(s):  
Neelan J. Marianayagam ◽  
Ishani D. Premaratne ◽  
Michelle M. Buontempo ◽  
Francis N. Villamater ◽  
Mark M. Souweidane ◽  
...  
Keyword(s):  
Diagnostic Accuracy ◽  
Final Diagnosis ◽  
Diagnostic Uncertainty ◽  
Alternative Diagnosis ◽  
Study Results ◽  
Significant Difference ◽  
Virtual Visits ◽  
The Mean ◽  
Virtual Clinic

OBJECTIVE The aim of this study was to carry out a quantitative analysis of a virtual craniofacial clinic during the COVID-19 pandemic. METHODS The charts of 90 patients from a single institution were reviewed. Of these patients, 45 visited the virtual clinic during the COVID-19 pandemic. The other 45 patients visited the clinic in the 3 months prior to COVID-19. Demographics including the mean age at the visit, chief complaint, visit diagnosis, appointment duration, helmet usage, accuracy of the diagnosis, need for a CT scan, and the need for a follow-up appointment were assessed. Diagnostic accuracy, the frequency of follow-up appointments, and patient satisfaction (via survey), as well as additional associated factors, were analyzed to determine the efficacy and satisfaction associated with the virtual clinic approach. RESULTS The mean patient age at time of the visit was 5.6 and 7.3 months (p = 0.244), and the mean time from referral to appointment was 19.2 and 19 days (p = 0.934), in the in-person and virtual cohorts, respectively. There was no significant difference in the variety of chief complaints between the in-person and virtual visits, with 97.8% and 93.3% of patients’ parents reporting abnormal head shape, respectively, and the remainder reporting more infrequent complaints (p = 0.435). The visit diagnosis was plagiocephaly in 93.3% of the in-person cohort and 80.0% of the virtual cohort (p = 0.118). The final diagnosis exhibited a similar pattern, with 95.6% of the in-person cohort and 88.9% of the virtual cohort observed as positional plagiocephaly; the remaining diagnoses were more infrequent (p = 0.434). The most common alternative diagnosis in the virtual visit cohort was a metopic ridge (8.4%). In the in-person visit cohort, the most common alternative diagnosis was equally a benign enlargement of the subarachnoid space in infancy, scalp mass, and skull lesion (2.2% each). None of the patients in either cohort were diagnosed with synostosis. Eighty percent of the in-person visits were 15 to 30 minutes in duration, with the remaining 20% being 31 minutes or longer; virtual visits were all 30 minutes or less, with 95.6% being 15 to 30 minutes (p = 0.002). Helmets were prescribed for 2 patients in the in-person cohort and no patients in the virtual cohort (p = 0.494). Alterations in diagnosis were made in 2.2% of in-person visits and 6.7% of virtual visits (p = 0.616). Follow-up was required in 15.6% of the in-person visits and 31.1% of the virtual visits (p = 0.134). CT was only utilized twice, once in the in-person visit cohort and once in the virtual visit cohort. CONCLUSIONS Virtual clinic encounters resulted in comparable diagnostic accuracy. The trend toward frequent follow-up assessments and changes in the final diagnosis in the virtual clinic cohort has indicated a level of diagnostic uncertainty via the virtual interface, which required in-person assessment for confirmation. This finding did not contribute toward diagnostic inaccuracy with respect to missed synostosis. The study results have indicated that telemedicine can be an effective modality in assessing craniofacial pathology.

scholarly journals Can Clinical Findings Prevent Negative Laparotomy in Parasitosis Mimicking Acute Appendicitis?

2016 ◽  
Vol 2016 ◽  
pp. 1-5
Author(s):  
Musa Zorlu ◽  
İbrahim Tayfun Şahiner ◽  
Ahmet Çınar Yastı ◽  
Ethem Zobacı ◽  
Ramazan Kocabaş ◽  
...  
Keyword(s):  
Acute Appendicitis ◽  
Rural Areas ◽  
Young Patients ◽  
Diagnostic Value ◽  
Lymphoid Hyperplasia ◽  
Clinical Findings ◽  
City Centre ◽  
Negative Laparotomy ◽  
Number Of Patients ◽  
Significant Difference

Objectives. Rates of negative laparotomy (NL) for acute appendicitis have been reported as 15% and parasitosis contributed to 2%. This study was planned to reduce the rates of NL by preoperative determination of parasitosis. Methods. In retrospective examination of 2730 appendectomy specimens in Hitit University Department of General Surgery between 2008 and 2012, 55 patients were determined with parasitosis and compared with 102 age-matched randomly selected patients with lymphoid hyperplasia. Results. The parasite group comprised 63.6% females with a mean age of 15.1 years. The number of patients in the parasitosis group increased from city centre to rural areas of towns and villages (p<0.001). While a lower rate of sonographic findings was found in the parasitosis group, the findings of inflammation in the histopathological evaluation were significantly low (p=0.014, p=0.0011, resp.). A significant difference was determined between groups in respect of the eosinophil and haematocrit values. In the differentiation of patients with parasites, eosinophil of >2.2% was determined as a diagnostic value. Conclusion. It is important to determine parasitosis to prevent NL. When acute appendicitis is considered for young patients living in rural areas, the observation of high eosinophil together with negative sonographic findings should bring Enterobius vermicularis parasitosis to mind and thereby should prevent NL.

Clinical Significance of Lung Uptake in Liver Scanning

1986 ◽  
Vol 25 (01) ◽  
pp. 15-18 ◽  
Author(s):  
M. Luostarinen ◽  
M Vorne ◽  
T. Lantto
Keyword(s):  
Clinical Significance ◽  
Final Diagnosis ◽  
Reticuloendothelial System ◽  
Liver Imaging ◽  
Lung Uptake ◽  
Benign Diseases ◽  
Number Of Patients ◽  
Liver Image ◽  
Liver Scanning ◽  
Stimulation Of

Summary 99mTc tin colloid accumulated in the lungs in 102 patients during liver imaging both in malignant and benign diseases. The percentage of neoplastic diseases increased when the lung uptake became greater and only patients with malignant final diagnosis had marked lung uptake. Abnormal liver image was seen only in 23%, which disagrees highly with some earlier findings on a rather small number of patients. The cause of increased lung uptake was suggested to be the activation of the reticuloendothelial system (RES) by disease. The activation of the RES was stronger in malignant than in benign diseases. Some type of regional stimulation of the RES was suggested as being due to the location of the disease and both malignant and benign diseases of the chest region stimulated the pulmonary part of the RES more than other parts of the RES.

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