scholarly journals AP2S1 and GNA11 mutations – not a common cause of familial hypocalciuric hypercalcemia

2017 ◽  
Vol 176 (2) ◽  
pp. 177-185 ◽  
Author(s):  
Silje Hovden ◽  
Lars Rejnmark ◽  
Søren A Ladefoged ◽  
Peter H Nissen
Keyword(s):  
Cross Sectional Study ◽  
Control Group ◽  
Familial Hypocalciuric Hypercalcemia ◽  
Gene Encoding ◽  
Cross Sectional ◽  
Calcium Sensing ◽  
Pathogenic Mutations ◽  
Type 3

Objective Familial hypocalciuric hypercalcemia (FHH) type 1 is caused by mutations in the gene encoding the calcium-sensing receptor (CASR). Recently, mutations affecting codon 15 in the gene AP2S1 have been shown to cause FHH type 3 in up to 26% of CASR-negative FHH patients. Similarly, mutations in the gene GNA11 have been shown to cause FHH type 2. We hypothesized that mutations in AP2S1 and GNA11 are causative in Danish patients with suspected FHH and that these mutations are not found in patients with primary hyperparathyroidism (PHPT), which is the main differential diagnostic disorder. Design Cross-sectional study. Methods We identified patients with unexplained hyperparathyroid hypercalcemia and a control group of verified PHPT patients through review of 421 patients tested for CASR mutations in the period 2006–2014. DNA sequencing of all amino acid coding exons including intron–exon boundaries in AP2S1 and GNA11 was performed. Results In 33 CASR-negative patients with suspected FHH, we found two (~6%) with a mutation in AP2S1 (p.Arg15Leu and p.Arg15His). Family screening confirmed the genotype–phenotype correlations. We did not identify any pathogenic mutations in GNA11. No pathogenic mutations were found in the PHPT control group. Conclusions We suggest that the best diagnostic approach to hyperparathyroid hypercalcemic patients suspected to have FHH is to screen the CASR and AP2S1 codon 15 for mutations. If the results are negative and there is still suspicion of an inherited condition (i.e. family history), then GNA11 should be examined.

scholarly journals Common Malocclusion Problems and their Management: A Hospital based study

2018 ◽  
Vol 10 (1) ◽  
pp. 22-25
Author(s):  
Helal Uddin ◽  
Ziauddin Ahmed ◽  
Nitish Krishna Das ◽  
Arup Kumar Saha ◽  
Mohammad Rakibul Islam Babu ◽  
...  
Keyword(s):  
Young Women ◽  
Cross Sectional Study ◽  
Cross Sectional ◽  
Female Ratio ◽  
Functional Efficiency ◽  
Lip Seals ◽  
Bangladeshi Population ◽  
Type 3

Aims: Orthodontics is the branch of dentistry concerned with the prevention, interception and correction of malocclusion. The present study aimed at the common malocclusion problems and their management in Bangladeshi population. It was also aimed to align for aesthetics reason, functional efficiency and structural balance. Methods: A cross-sectional study was carried out among 120 respondents having malocclusions. Students, especially young women and urban residents were selected as the main respondents of our series which reflected its aesthetic value against malocclusion Results: Mean age of the respondents was 22.22±9.07 years with a male and female ratio of 1:3.1. Among the respondents, 37.5% were within the 11 to 20 years age group with a past (21.0%) and present (7.5%) history of finger sucking habit and abnormal over jet (71.7%) and over bite (55.8%). Mean over jet and overbite were 4.4 ±3.47 (range, -2 to 12) mm and 3.47±1.98 (range, 0 to 7) mm, respectively. Angle’s classification revealed type 1, type 2 (division 1), type 2 (division 2) and type 3 were 55.0%, 28.3%, 3.3% and 13.3%, respectively, and based on skeletal relationships, type 1, type 2 and type 3 were 64.2%, 25.0% and 10.8%, respectively. Of all patients, 66.7% had convex, 22.5% straight and 10.8% had concave face profiles. They also had 44.2% competent, 36.7% incompetent and 19.2% habitual competent anterior lip seals. Conclusions: Smile is a global language though many of our patients are deprived of both socially and economically, especially young women from this language. With growing importance imposed on preventive orthodontic treatment and proper oral health education, incidence of malocclusion can be reduced. DOI: http://dx.doi.org/10.3329/cdcj.v10i1.13827 City Dent. Coll. J Volume-10, Number-1, January-2013

scholarly journals Thyroid incidentalomas in patients with multiple endocrine neoplasia type 1

2015 ◽  
Vol 172 (4) ◽  
pp. 337-342 ◽  
Author(s):  
Lutske Lodewijk ◽  
Pim J Bongers ◽  
Jakob W Kist ◽  
Elfi B Conemans ◽  
Joanne M de Laat ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Cross Sectional Study ◽  
Control Group ◽  
Thyroid Tumors ◽  
Cross Sectional ◽  
Thyroid Incidentaloma ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

ObjectiveCurrently, little is known about the prevalence of thyroid tumors in multiple endocrine neoplasia type 1 (MEN1) patients and it is unclear whether tumorigenesis of these thyroid tumors is MEN1-related. The aim of the study was to assess the prevalence of thyroid incidentalomas in MEN1 patients compared with nonMEN1 patients and to verify whether thyroid tumorigenesis is MEN1-related.DesignA cross-sectional study.MethodsThe study included two groups: patients with MEN1 and a matched non-MEN1 control group without known thyroid disease, who underwent an ultrasound of the neck for the localization of parathyroid adenoma. Ninety-five MEN1 patients underwent ultrasound of the neck and were matched on gender and age with non-MEN1 patients. The prevalence of thyroid incidentalomas described in the ultrasound report was scored. Multinodular goiters, solitary nodes, and cysts were scored as incidentalomas. Presence of nuclear menin expression was evaluated by menin immunostaining of the thyroid tumors.ResultsIn the MEN1 group, 43 (45%) patients had a thyroid incidentaloma compared with 48 (51%) in the non-MEN1 group, of which 14 (15%) and 16 (17%), respectively, were solitary nodes. Menin was expressed in the nuclei of all evaluated thyroid tumors.ConclusionsMEN1 patients do not have a higher prevalence of thyroid incidentalomas compared with primary hyperparathyroidism patients without the diagnosis of MEN1. Menin was expressed in the thyroid tumors of MEN1 patients.

scholarly journals Prevalence of Comorbidities in Individuals Diagnosed and Undiagnosed with Alzheimer’s Disease in León, Spain and a Proposal for Contingency Procedures to Follow in the Case of Emergencies Involving People with Alzheimer’s Disease

2020 ◽  
Vol 17 (10) ◽  
pp. 3398
Author(s):  
Macrina Tortajada-Soler ◽  
Leticia Sánchez-Valdeón ◽  
Marta Blanco-Nistal ◽  
José Alberto Benítez-Andrades ◽  
Cristina Liébana-Presa ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Cognitive Disorders ◽  
Cross Sectional Study ◽  
Control Group ◽  
Cross Sectional ◽  
Emergency Procedures ◽  
And Control ◽  
Similar Incidence

Background: Alzheimer’s disease (AD) which is the most common type of dementia is characterized by mental or cognitive disorders. People suffering with this condition find it inherently difficult to communicate and describe symptoms. As a consequence, both detection and treatment of comorbidities associated with Alzheimer’s disease are substantially impaired. Equally, action protocols in the case of emergencies must be clearly formulated and stated. Methods: We performed a bibliography search followed by an observational and cross-sectional study involving a thorough review of medical records. A group of AD patients was compared with a control group. Each group consisted of 100 people and were all León residents aged ≥65 years. Results: The following comorbidities were found to be associated with AD: cataracts, urinary incontinence, osteoarthritis, hearing loss, osteoporosis, and personality disorders. The most frequent comorbidities in the control group were the following: eye strain, stroke, vertigo, as well as circulatory and respiratory disorders. Comorbidities with a similar incidence in both groups included type 2 diabetes mellitus, glaucoma, depression, obesity, arthritis, and anxiety. We also reviewed emergency procedures employed in the case of an emergency involving an AD patient. Conclusions: Some comorbidities were present in both the AD and control groups, while others were found in the AD group and not in the control group, and vice versa.

scholarly journals Proposed Classification of Periampullary Diverticulum and its Role on Performing ERCP and Post ERCP Complication

2020 ◽  
Author(s):  
Hasan Salmanroghani ◽  
Mohammad Hassan Rouzegari ◽  
Mahmud Baghbanian
Keyword(s):  
Success Rate ◽  
Cross Sectional Study ◽  
Intestinal Wall ◽  
P Value ◽  
Complication Rates ◽  
Cross Sectional ◽  
Type 3 ◽  
The Impact

Introduction: Duodenal diverticula are pouches of the mucosa, submucosa, and scattered muscle cells that extend through the intestinal wall. In this study, we aimed to classify the papilla position according to presence of PAD and evaluate the impact of papilla position on the success rate and post ERCP complication in the patients with PAD. Methods: This cross-sectional study was performed on 1260 patients with bile duct problems underwent ERCP. Patients with diverticulum were considered as the first group and the patients without diverticulum as the second group. In this study, SPSS Version 18 software, Chi-square and Students T-test were used, respectively. Results: 239 patients had peripheral diverticula. The mean age of participants was 68.9±10.3. In 239 patients with diverticulum Type 1=48.2%, Type 2 =37.6%, Type 3 =5.1%, Type 4 =9.1% the success rate in Type 1 was 97% (p-value: 0.003). In the patients with type 3, the cannulation was difficult and had a low success rate, with more complications. Conclusion: Classification of PAD can predict success rate in the patients with PDA, and can predict post ERCP complication rates.

scholarly journals Kappa Free Light Chains and IgG Combined in a Novel Algorithm for the Detection of Multiple Sclerosis

2020 ◽  
Vol 10 (6) ◽  
pp. 324
Author(s):  
Monika Gudowska-Sawczuk ◽  
Joanna Tarasiuk ◽  
Alina Kułakowska ◽  
Jan Kochanowicz ◽  
Barbara Mroczko
Keyword(s):  
Multiple Sclerosis ◽  
Oligoclonal Bands ◽  
Light Chains ◽  
Control Group ◽  
Free Light Chains ◽  
Pattern Type ◽  
Multiple Sclerosis Patients ◽  
Type 3

Background: It is well known that the cerebrospinal fluid (CSF) concentrations of free light chains (FLC) and immunoglobulin G (IgG) are elevated in multiple sclerosis patients (MS). Therefore, in this study we aimed to develop a model based on the concentrations of free light chains and IgG to predict multiple sclerosis. We tried to evaluate the diagnostic usefulness of the novel κIgG index and λIgG index, here presented for the first time, and compare them with the κFLC index and the λFLC index in multiple sclerosis patients. Methods: CSF and serum samples were obtained from 76 subjects who underwent lumbar puncture for diagnostic purposes and, as a result, were divided into two groups: patients with multiple sclerosis (n = 34) and patients with other neurological disorders (control group; n = 42). The samples were analyzed using turbidimetry and isoelectric focusing. The κIgG index, λIgG index, κFLC index, and λFLC index were calculated using specific formulas. Results: The concentrations of CSF κFLC, CSF λFLC, and serum κFLC and the values of κFLC index, λFLC index, and κIgG index were significantly higher in patients with multiple sclerosis compared to controls. CSF κFLC concentration and the values of κFLC index, λFLC index, and κIgG index differed in patients depending on their pattern type of oligoclonal bands. κFLC concentration was significantly higher in patients with pattern type 2 and type 3 in comparison to those with pattern type 1 and type 4. The κFLC index, λFLC index, and κIgG index were significantly higher in patients with pattern type 2 in comparison to those with pattern type 4. The κFLC index and κIgG index were significantly higher in patients with pattern type 2 in comparison to those with pattern type 1, and in patients with pattern type 3 compared to those with pattern type 4. The κIgG index was markedly elevated in patients with pattern type 3 compared to those with pattern type 1. In the total study group, κFLC, λFLC, κFLC index, λFLC index, κIgG index, and λIgG index correlated with each other. The κIgG index showed the highest diagnostic power (area under the curve, AUC) in the detection of multiple sclerosis. The κFLC index and κIgG index showed the highest diagnostic sensitivity, and the κIgG index presented the highest ability to exclude multiple sclerosis. Conclusion: This study provides novel information about the diagnostic significance of four markers combined in the κIgG index. More investigations in larger study groups are needed to confirm that the κIgG index can reflect the intrathecal synthesis of immunoglobulins and may improve the diagnosis of multiple sclerosis.

scholarly journals No evidence for increased self-reported cognitive failure in Type 1 and Type 2 diabetes: a cross-sectional study

2007 ◽  
Vol 24 (7) ◽  
pp. 735-740 ◽  
Author(s):  
A. M. Wessels ◽  
F. Pouwer ◽  
P. H. L. M. Geelhoed-Duijvestijn ◽  
M. Snel ◽  
P. J. Kostense ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional ◽  
Cognitive Failure
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