scholarly journals Screening of Mutations and Polymorphisms in the Glucokinase Gene in Czech Diabetic and Healthy Control Populations

2008 ◽  
pp. S99-S108
Author(s):  
P Lukášová ◽  
J Včelák ◽  
M Vaňková ◽  
D Vejražková ◽  
K Andělová ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Pathogenic Mutation ◽  
Glucokinase Gene ◽  
Exon 2 ◽  
Patients With Diabetes ◽  
Healthy Control ◽  
History Of ◽  
And Control ◽  
Flanking Regions

Glucokinase (GCK) plays a key role in glucose metabolism. GCK mutations are known as a pathogenic cause of maturity-onset diabetes of the young type 2 (MODY2). These mutations are also found in gestational diabetics. The aim of our study was to assess the variability of the GCK gene in the Czech diabetic and control populations. We screened all 10 exons specific for the pancreatic isoform of glucokinase (1a and 2-10) including the intron flanking regions in 722 subjects (in 12 patients with an unrecognised type of MODY and their 10 family members, 313 patients with diabetes mellitus type 2 (DM2), 141 gestational diabetics (GDM), 130 healthy offspring of diabetic parents, and 116 healthy controls without family history of DM2). In two MODY families we identified two mutations in exon 2 of the GCK gene: a novel mutation Val33Ala and the previously described mutation Glu40Lys. In other subgroups (excluding MODY families) we detected only intronic variants and previously described polymorphisms in exons 6 (Tyr215Tyr) and 7 (Ser263Ser), we did not find any known GCK pathogenic mutation. We observed no difference in the frequencies of GCK polymorphisms between Czech diabetic (DM2, GDM) and non-diabetic populations.

scholarly journals Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation

2012 ◽  
Vol 56 (8) ◽  
pp. 490-495 ◽  
Author(s):  
Thais DellaManna ◽  
Magnus R. da Silva ◽  
Antonio Roberto Chacra ◽  
Ilda S. Kunii ◽  
Ana Luiza Rolim ◽  
...  
Keyword(s):  
Clinical Course ◽  
Novel Mutation ◽  
Microvascular Complications ◽  
Monogenic Diabetes ◽  
Pharmacological Interventions ◽  
Glucokinase Gene ◽  
Exon 2 ◽  
Slight Elevation

Mutations in the glucokinase gene (GCK) account for many cases of monogenic diabetes featuring maturity-onset diabetes of the young type 2 (MODY2). The clinical pattern of this form of hyperglycemia is rather stable, with a slight elevation in blood glucose, which is usually not progressive. Patients rarely require pharmacological interventions and microvascular complications related to diabetes are unusual. We describe the clinical follow-up of two cases of MODY2 with two different mutations in GCK gene, one in exon 7, p.Glu265Lys (c.793 G> A), which has been previously described, and a novel one, in exon 2, p.Ser69Stop (c. 206C> G). The clinical course of both cases shows similarity in metabolic control of this form of diabetes over the years. Arq Bras Endocrinol Metab. 2012;56(8):490-5

The cuff width influences the toe blood pressure value

VASA ◽  
2004 ◽  
Vol 33 (4) ◽  
pp. 215-218 ◽  
Author(s):  
Påhlsson ◽  
Jörneskog ◽  
Wahlberg
Keyword(s):  
Blood Pressure ◽  
Limb Ischemia ◽  
Limb Ischaemia ◽  
Patients With Diabetes ◽  
History Of ◽  
Blood Pressures ◽  
Cuff Size ◽  
And Control ◽  
Toe Blood Pressure ◽  
Cuff Width

Background: Toe blood pressure is a valuable and often used parameter when lower limb ischaemia is evaluated in patients with diabetes, but little has been done to standardise the method. The aim of this study was to evaluate if the cuff size influences the toe blood pressure values obtained in patients with diabetes. Patients and methods: Eleven patients with diabetes without a history of peripheral vascular disease, and six age matched healthy subjects were investigated. Their blood pressures were measured in the upper arm and at the ankle level repetitively. For measurement of toe blood pressure two different cuff widths were used. Results: All blood pressures were similar in patients and control subjects, as well as over time. The toe blood pressure values were 18 mmHg higher (p < 0.01) if measured with a 2.0-cm compared to a 2.5-cm wide cuff. There was a relationship (r = 0.63, p < 0.05 for patients) between toe circumference and the toe blood pressure value, where smaller halluxes gave lower values. Conclusions: The cuff width influences the obtained toe blood pressure value and needs to be considered when evaluating limb ischemia in patients with diabetes.

A Chinese family with familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2

Cephalalgia ◽  
2019 ◽  
Vol 39 (11) ◽  
pp. 1382-1395
Author(s):  
Wenjing Tang ◽  
Meichen Zhang ◽  
Enchao Qiu ◽  
Shanshan Kong ◽  
Yingji Li ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Novel Mutation ◽  
Clinical Manifestations ◽  
Pathogenic Mutation ◽  
Familial Hemiplegic Migraine ◽  
Chinese Family ◽  
Hemiplegic Migraine ◽  
Pathogenic Potential ◽  
The Family

Background ATP1A2 has been identified as the genetic cause of familial hemiplegic migraine type 2. Over 80 ATP1A2 mutations have been reported, but no data from Chinese family studies has been included. Here, we report the first familial hemiplegic migraine type 2 Chinese family with a novel missense mutation. Methods Clinical manifestations in the family were recorded. Blood samples from patients and the unaffected members were collected for whole-exome sequencing to identify the pathogenic mutation. Seven online softwares (SIFT, PolyPhen-2, PROVEAN, PANTHER, MutationTaster2, MutationAssessor and PMut) were used for predicting the pathogenic potential of the mutation. PredictProtein, Jpred 4 and PyMOL were used to analyze structural changes of the protein. The mutation function was further tested by Methylthiazolyldiphenyl-tetrazolium bromide (MTT) assay. Results All patients in the family had typical hemiplegic migraine attacks. Co-segregation of the mutation with the migraine phenotype in four generations, with 10 patients, was completed. The identified novel mutation, G762S in ATP1A2, exhibited the disease-causing feature by all the predictive softwares. The mutation impaired the local structure of the protein and decreased cell viability. Conclusion G762S in ATP1A2 is a novel pathogenic mutation identified in a Chinese family with familial hemiplegic migraine, which causes loss of function by changing the protein structure of the Na+/K+-ATPase α2 subunit.

scholarly journals Novel CD40LG Mutation in Two Cousins With Immunoglobulin Class Switch Recombinant Deficiency

2020 ◽  
Author(s):  
Shahnaz Armin ◽  
Keyvan Ramezani ◽  
Bibi Shahin Shamsian ◽  
Zahra Chavoshzadeh ◽  
Maryam Eghbali ◽  
...  
Keyword(s):  
Opportunistic Infections ◽  
Novel Mutation ◽  
Family Relationship ◽  
Cd40 Ligand ◽  
Immunoglobulin M ◽  
Recurrent Infections ◽  
Exon 2 ◽  
Class Switch ◽  
Inherited Immunodeficiency ◽  
History Of

The hyper-immunoglobulin M (HIGM) syndrome comprises a group of rare inherited immunodeficiency disorders characterized by normal or elevated levels of serum IgM with low or absent levels of serum IgG, IgA, and IgE. Patients with this syndrome usually present with a history of recurrent infections or opportunistic infections. Here, we report two male cousins from homozygote twin mothers. The first cousin presented with no signs or symptoms other than neutropenia, which was accidentally found in a routine blood test. Immunological workup in this patient showed undetectable IgG and IgA levels and normal IgM levels. The second cousin had a history of recurrent infections, and at the time of admission, he was diagnosed with Pneumocystis jirovecii infection. The immunologic workup of this patient showed undetectable IgG, decreased IgA, and increased IgM level. Due to their interesting family relationship, genetic analysis was performed, which detected a novel mutation in exon 2 (c.266 del G) of the CD40 ligand gene (CD40LG).

scholarly journals A Novel Variant of the SH2B1 Gene in an Obese Child With Type 2 Diabetes

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A32-A32
Author(s):  
Mariaester Makacio Morillo ◽  
Supamit Ukarapong ◽  
Tossaporn Seeherunvong
Keyword(s):  
Type 2 Diabetes ◽  
Behavioral Problems ◽  
Novel Mutation ◽  
Fasting Blood Glucose ◽  
Pathogenic Mutation ◽  
The United States ◽  
Maladaptive Behavior ◽  
Leptin Resistance ◽  
Protein Functions

Abstract Obesity in children and adolescents is at epidemic levels in the United States and creates high risk for comorbidities later in life. Childhood obesity is thought to be the result of behavioral and nutritional problems. Although genetic factors may play a role in the etiology of obesity, monogenic forms of obesity are rare. We present a child with obesity, behavioral problems, leptin resistance, and type 2 diabetes who also carries a mutation of Sarcoma Homologous 2B adapter protein 1 (SH2B1). The subject was evaluated at 13 7/12 years old. He had polyphagia, learning disability, aggressive behavior and marked obesity. At ages 9,11, and 13 years respectively, his BMI was 9%, 16%, and 52% above the 95th percentile. At 13 7/12 years old, his height was at the 80th percentile and BMI was 66% above the 95th percentile. He had marked acanthosis nigricans and he was prepubertal. Fasting blood glucose and insulin levels were 116 mg/dl and 592 mIU/L, respectively. Hemoglobin A1c was 6.5% and metformin therapy was initiated for type 2 diabetes. Fasting leptin level (41.5 ng/mL) was markedly elevated indicating leptin resistance. DNA methylation study excluded Prader-Willi syndrome. DNA sequencing indicated a novel heterozygous c.1555G&gt;T variant of SH2B1 gene, which is predicted to result in the amino acid substitution p. Asp519Tyr. The analysis by PolyPhen-2 and MutationTaster predicts that the variant is a pathogenic mutation affecting protein functions. SH2B1 interacts with JAK2 and may play a role in insulin signaling. Pathogenic heterozygous variants in SH2B1 have been associated with obesity, insulin resistance and maladaptive behavior phenotypes (Pearce et al, 2014). Sh2b1-null mice develop severe leptin resistance, obesity, and type 2 diabetes. Our report underscores the importance of investigating monogenic causes of obesity in subjects who present severe obesity, diabetes, and behavioral problems. Additional studies are needed to determine the association between this novel mutation and the clinical features of this patient.

scholarly journals Obesity and Covid-19: A Major Mortality Risk in Patients Hospitalized With Covid-19

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A53-A53
Author(s):  
Giovanna Rodriguez ◽  
Eunice Kim ◽  
Fausto Cabezas ◽  
Paulomi Dave ◽  
Jefferson Li ◽  
...  
Keyword(s):  
Mortality Rate ◽  
Univariate Analysis ◽  
Multivariable Analysis ◽  
Normal Weight ◽  
Health Crisis ◽  
City Community ◽  
Patients With Diabetes ◽  
History Of ◽  
Artery Disease

Abstract The coronavirus disease 2019 COVID-19 pandemic is a major public health crisis. Obesity has emerged as a significant comorbidity for COVID-19 severity. To study the association of both pandemics, we conducted an observational, retrospective cohort study involving 521 patients admitted with Covid-19 to an inner city, community hospital in Brooklyn, NY in the period March 20 to May 2, 2020. Of the cohort, 57.6% was men, mean age was 61.6±17.2 years, and mean BMI was 29.0 ± 8.2 kg /m2. 11% had BMI &gt; 40 kg/m2. 53.9% was Hispanic, 33.3% was African American, 7.1% was White, with a predominance of type 2 diabetes (99%). Diabetes, hypertension, coronary artery disease and chronic kidney disease were found in 45%, 41.5%, 15%, and 20.1% cases, respectively. Mean HbA1c was 5.8%± 1.1 in patients with no history of diabetes, 3% presented with diabetic ketoacidosis, mortality rate was 30.6%. Non-survivors were significantly older (median age 68 vs 56, p &lt; 0.03) and had higher rate of microvascular and macrovascular diseases. In patients with diabetes, mortality rate was 40.1%. HbA1c was similar between survivors and non-survivors. Older age and hyperglycemia on admission were the risk factors for mortality. Only 30% of the cohort had normal weight (BMI&lt;25), 30% was overweight and 40% was obese. In univariate analysis, the characteristics at admission significantly associated with mortality were age, BMI, hyperglycemia, diabetes and DKA in patients with or without diabetes. In age- and sex-adjusted multivariable analysis only BMI 30–39 kg/m2 (OR = 1.63; 95% CI, 1.10, 2.43; p = 0.015), BMI &gt;40 kg/m2 (OR = 2.05; 95% CI, 1.22, 3.44; p = 0.007) and DKA (OR = 1.77; 95% CI, 1.18, 2.64; p = 0.005) remained positively associated with higher mortality. In summary, BMI, and DKA but not diabetes, were positively and independently associated with mortality in patients hospitalized with Covid-19. Reference: (1) Popkin et al., Obesity Reviews 2020 August;21(11):e13128. (2) Cariou et al., Diabetologia 2020 May;63(8): 1500–1515.

scholarly journals Association between Diabetes Consequences and Quality of Life among Patients with Diabetes Mellitus in the Aseer Province of Saudi Arabia

2020 ◽  
Vol 8 (E) ◽  
pp. 325-330
Author(s):  
Sultan M. Alshahrani ◽  
Moferrah Alzahran ◽  
Khaled Alakhali ◽  
Easwaran Vigneshwaran ◽  
Mir Javid Iqbal ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Diabetes Mellitus ◽  
Saudi Arabia ◽  
Age Groups ◽  
Cross Sectional ◽  
Health Care Burden ◽  
Patients With Diabetes ◽  
History Of

BACKGROUND: Diabetes mellitus (DM) is a major health-care burden worldwide. AIM: The aim of the study was to explore how the quality of life (QoL) of DM patients could be affected in the Aseer Province of the Kingdom of Saudi Arabia (KSA). METHODS: A cross-sectional, multicenter study in DM patients of both sexes and all age groups in Aseer Province were done using a validated self-administered questionnaire. The study was conducted between April 1, 2018 and November 25, 2018. RESULTS: A total of 418 patients completed our questionnaire, of which 240 (58%) were male and 178 (42%) were female. Furthermore, 50.23% were married and 104 (24.16%) were illiterate. We found that 403 (96.42%) respondents had type-2 DM and 315 (75.35%) had a family history of DM. In addition, 132 (31.57%) respondents were on monotherapy whereas only 61 (14.59%) were using combination therapy. Hypertension was the most prevalent comorbidity (166, 39.71%) and peripheral neuropathy the most prevalent complication of DM (157, 37.56%). CONCLUSION: DM had a significant impact on QoL among patients from Aseer Province in KSA. Our study underscores the importance of generating data on QoL among DM patients.

A Novel Mutation in Aicardi–Goutières' Syndrome: A Case Report

2020 ◽  
Author(s):  
Motahareh Sheikh-Hosseini ◽  
Mohammad Moarefzadeh ◽  
Hamideh Alavi-Moghaddam ◽  
Saeid Morovvati
Keyword(s):  
Neonatal Jaundice ◽  
Clinical Phenotype ◽  
Novel Mutation ◽  
Genetic Disorder ◽  
Cerebral Atrophy ◽  
Pathogenic Mutation ◽  
Consanguineous Marriage ◽  
The Other ◽  
Congenital Infections ◽  
History Of

AbstractAicardi–Goutières' syndrome (AGS) is a rare heterogeneous genetic disorder characterized by encephalopathy and may bear resemblance to congenital infections. The prevalence of AGS is estimated at more than 4,000 worldwide. Mutations in TREX1 gene are present in ∼22% of patients. We present the case of a 2-year-old boy who came to the Biogene laboratory (Tehran, Iran) with a constellation of congenital disorders but no clear diagnosis. His clinical phenotype consisted of neonatal jaundice, relative microcephaly with diffuse cerebral atrophy in both hemispheres, developmental delay, hypotonia, and nystagmus. There was history of parental consanguineous marriage and prematurity. In our study, a homozygous potentially pathogenic mutation in TREX1 gene associated with AGS1 was detected. This mutation has not been reported in the other patients with AGS. A novel frameshift homozygous potentially pathogenic mutation in TREX1 is postulated to be the cause of disease in our patient.

Isolation, identification and susceptibility pattern of Gardnerella vaginalis in bacterial vaginosis

2013 ◽  
Vol 5 (1) ◽  
pp. 8-11 ◽  
Author(s):  
Shameem Akhter ◽  
Humayun Sattar ◽  
Ruhul Amin Miah ◽  
Ahmed Abu Saleh ◽  
Sharmeen Ahmed ◽  
...  
Keyword(s):  
Bacterial Vaginosis ◽  
Vaginal Discharge ◽  
Vaginal Swab ◽  
Reproductive Age ◽  
Gardnerella Vaginalis ◽  
Gram Stain ◽  
Healthy Control ◽  
History Of ◽  
Abnormal Vaginal Discharge ◽  
And Control

Bacterial vaginosis is the commonest cause of abnormal vaginal discharge in women of reproductive age. A total 200 women aged 15- 45 years with history of abnormal vaginal discharge were included as study population. Fifty women without such history of discharge were taken as healthy control. Two vaginal swab samples were taken from each case and control. These swab samples were subjected to test by Gram stain (Nugent method) and culture. 21.5 % of the cases were diagnosed as bacterial vaginosis by Gram stain (Nugent method) and 21 % by culture. Clindamycin was susceptible to G. vaginalis in (90.5%) followed by metronidazol (76.1 %), chloramphenicol (71.4 %) and erythromycin (66.7 %). Out of 50 cases of recurrent bacterial vaginosis, G. vaginalis was isolated from 15 (30 %) cases, of which 5 (33.3 %) were sensitive and 10 (66.7 %) were resistant to metronidazol, while all 15 cases were sensitive to clindamycin.DOI: http://dx.doi.org/10.3329/bjmm.v5i1.15814 Bangladesh J Med Microbiol 2011; 05 (01): 8-11

Genetic and Phenotypic Analysis of Families with Inherited Hypo- and Dys-Fibrinogenemia. Fibrinogen Bratislava.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 1794-1794
Author(s):  
Angelika Batorova ◽  
Daniela Horvathova ◽  
Martin Mistrik ◽  
Philippe de Moerloose ◽  
Marguerite Neerman-Arbez
Keyword(s):  
Genetic Analysis ◽  
Fibrinogen Level ◽  
Novel Mutation ◽  
Heterozygous Mutation ◽  
Blood Coagulation Disorders ◽  
Phenotypic Analysis ◽  
Spontaneous Bleeding ◽  
Exon 2 ◽  
Exon 1 ◽  
History Of

Abstract Inherited hypofibrinogenemia (hypo-FBG) and dysfibrinogenemia (dys-FBG) are rare blood coagulation disorders caused by quantitative or qualitative defects of fibrinogen. We reviewed the clinical course in 47 individuals with dys-FBG and 16 patients with hypo-FBG with median fibrinogen coagulant/antigen levels of 0.76/2.8 and 1.1/1.2 g/L, respectively. Genetic analysis was performed in 5 families (16 individuals) with dys-FBG and 4 families (8 individuals) with hypo-FBG. In the dysfibrinogenemia group 21 (45%) individuals were asymptomatic, 24(51%) patients suffered from bleeding and/or prolonged wound healing (only four had serious bleeding) and 2(4%) patients had a history of thrombosis. A total of 96 surgeries were performed without preoperative fibrinogen replacement in 31 dys-FBG patients, only 9 (9%) procedures were complicated with bleeding, two requiring fibrinogen substitution. Genetic analysis in dysfibrinogenemia has revealed heterozygous mutation in FGA exon 2 (Aα Arg16 His) known to cause delayed fibrinopeptide A cleavage by thrombin in 6 individuals (3 families). Five patients from two other families were heterozygous for a novel mutation in FGA exon 2 (Aα Gly13Glu). Fibrinogen coag/Ag median levels were comparable for both mutant genotypes: 0.5/2.9 g/L and 0.56/2.8 g/L, respectively. In the hypofibrinogenemia group 6/14 (43%) patients had mild spontaneous bleeding, 8/36 (22%) surgeries performed in 12 patients w/o replacement were complicated with bleeding. A novel mutation in FGG exon 1 (Trp3 Stop) was identified in heterozygosity for 3 patients (3 families) with FBG coag/Ag median level of 1.1/1.2 g/L. An additional unrelated patient with a fibrinogen level of 0.7 g/L and serious postpartum bleeding was heterozygous for a novel mutation in FGG exon 7 (Trp253Cys) - Fibrinogen Bratislava.

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