Studying the Prevalence of Mitochondrial tRNAleu Gene Mutation in Iraqi Population

ABSTRACT: Several studies reported the role of mitochondrial gene mutations in the development of this study conducted to determine the incidence of point mutation A3243G RNALeu (UUR) in diabetes pateints within the Iraqi population and campare it with that reported in other populations. Peripheral blood were collected from 100 patients attended university of Al-Mustansiriyah / national centre for the treatment of diabetes and research. The age, gender, family history, hypertension, retinopathy, nephropathy and smoking in addition to the body mass index, are the information collected from The pateints. The DNA was extracted and by PCR-RFLP method and PCR-sequencing methods, the tRNALeu (UUR) gene screened for A3243G revealed that none of the 100 patients were found to carry the A3243G mutation in the mitochondrial tRNALeu (UUR) gene in the homoplasmic or in the heteroplasmic form. Depending on the obtained results, it can be concluded that the A3243G mutation in mitochondrial tRNALeu (UUR) is not a frequent cause of diabetes in the Iraqi population contrary to other reported populations. And further screening of an enlarged group is necessary to fully determine the prevalence of this mutation in this population.

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STEROID RECEPTOR PHENOTYPE, EXPRESSION OF HER-2/NEU, PD-1, PD-L1 AND LYMPHOCYTIC-MACROPHAGAL INFILTRATION OF ENDOMETRIAL CARCINOMAS: COMPARISON OF MODERN MOLECULAR BIOLOGICAL TYPES OF THE DISEASE (THE ROLE OF BODY MASS INDEX)

Problems in oncology ◽

10.37469/0507-3758-2020-66-1-71-78 ◽

2020 ◽

Vol 66 (1) ◽

pp. 71-78

Author(s):

Lev Bershteyn ◽

Aleksandr Ivantsov ◽

Aglaya Ievleva ◽

A. Venina ◽

I. Berlev

Keyword(s):

Body Mass Index ◽

Body Mass ◽

Tumor Tissue ◽

Immunohistochemical Analysis ◽

The Body ◽

Molecular Profile ◽

Total N ◽

Number Of Patients ◽

Her 2

The aim of this study was to evaluate steroid receptors’ status of tumor tissue in different molecular biological types of endometrial cancer (EC), subdivided according to the current classification, and their colonization by lymphocytic and macrophage cells, taking into account body mass index of the patients. Materials and methods: Material from treatment-naive patients with EC (total n = 229) was included; the number of sick persons varied depending on the method used. The average age of patients was close to 60 years, and about 90% of them were postmenopausal. It was possible to divide the results of the work into two main subgroups: a) depending on the molecular biological type of the tumor (determined on the basis of genetic and immunohistochemical analysis), and b) depending on the value of the body mass index (BMI). The latter approach was used in patients with EC type demonstrating a defective mismatch repair of the incorrectly paired nucleotides (MMR-D) and with a type without characteristic molecular profile signs (WCMP), but was not applied (due to the smaller number of patients) in EC types with a POLE gene mutation or with expression of the oncoprotein p53. According to the data obtained, when comparing various types of EC, the lowest values of Allred ER and PR scores were revealed for POLE-mutant and p53 types, while the “triple-negative” variant of the tumor (ER-, PR-, HER2/neu-) was most common in POLE-mutant (45.5% of cases) and WCMP (19.4%) types of EC. The p53+ type of EC is characterized by inclination to the higher expression of the macrophage marker CD68 and lymphocytic Foxp3, as well as mRNA of PD-1 and SALL4. In addition to the said above, for WCMP type of EC is peculiar, on the contrary, a decrease in the expression of lymphocytic markers CD8 (protein) and PD-L1 (mRNA). When assessing the role of BMI, its value of >30.0 (characteristic for obesity) was combined with an inclination to the increase of HER-2/neu expression in the case of MMR-D EC type and to the decrease of HER-2 /neu, FOXp3 and ER expression in WCMP type. Conclusions: The accumulated information (mainly describing here hormonal sensitivity of the tumor tissue and its lymphocytic-macrophage infiltration) additionally confirms our earlier expressed opinion that the differences between women with EC are determined by both the affiliation of the neoplasm to one or another molecular biological type (subdivided according to the contemporary classification), as well as by body mass value and (very likely) the associated hormonal and metabolic attributes.

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Gender differences and the role of parental education, school types and migration on the body mass index of 2930 Austrian school children

Wiener klinische Wochenschrift ◽

10.1007/s00508-017-1247-2 ◽

2017 ◽

Vol 129 (21-22) ◽

pp. 786-792 ◽

Cited By ~ 3

Author(s):

Dieter Furthner ◽

Margit Ehrenmüller ◽

Ariane Biebl ◽

Roland Lanzersdorfer ◽

Gerhard Halmerbauer ◽

...

Keyword(s):

Body Mass Index ◽

Gender Differences ◽

Body Mass ◽

School Children ◽

Parental Education ◽

The Body ◽

Austrian School ◽

Education School ◽

And Migration

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The Role of Pretreatment Percutaneous Endoscopic Gastrostomy in Facilitating Therapy of Head and Neck Cancer and Optimizing the Body Mass Index of the Obese Patient

Journal of Parenteral and Enteral Nutrition ◽

10.1177/0148607108327525 ◽

2009 ◽

Vol 33 (4) ◽

pp. 404-410 ◽

Cited By ~ 39

Author(s):

Aleksandra Raykher ◽

Lilia Correa ◽

Lianne Russo ◽

Pat Brown ◽

Nancy Lee ◽

...

Keyword(s):

Body Mass Index ◽

Head And Neck Cancer ◽

Head And Neck ◽

Obese Patient ◽

Body Mass ◽

Percutaneous Endoscopic Gastrostomy ◽

Neck Cancer ◽

The Body ◽

Endoscopic Gastrostomy

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Description of a new Fridericia species (Oligochaeta: Enchytraeidae) and its molecular comparison with two morphologically similar species by PCR-RFLP

Zootaxa ◽

10.11646/zootaxa.1310.1.3 ◽

2006 ◽

Vol 1310 (1) ◽

pp. 53 ◽

Cited By ~ 3

Author(s):

K. DÓZSA-FARKAS ◽

G. CECH

Keyword(s):

New Species ◽

Distinct Species ◽

The Body ◽

Molecular Methods ◽

Similar Species ◽

Pcr Rflp ◽

Molecular Comparison ◽

Type C ◽

Epidermal Gland

A new species, Fridericia crassiductata sp.n. was described and compared by DNA fragment analyses (PCR-RFLP), with two similar species, Fridericia ratzeli (Eisen,1872) sensu Nielsen & Christensen (1959) and F. eiseni Dózsa-Farkas, 2005. The main characteristics of the new species are: 13–20 mm long, 0.5–0.7 mm wide, segment number: (38)–40–56, spermatheca with 9–10 large, sessile, globular diverticula, long and thick ectal duct, and two very large (80–130 µ m long) egg shaped ectal glands. Maximum ten chaetae per bundle, typical brown reticulate epidermal gland cells noticeable on the body surface. The oesophageal appendage is variable between type-a and type-c (according to Möller 1971) the branches are located proximally. The seminal vesicle is large, the penial slit is longitudinal with more transverse components. Three subneural glands in XIV–XVI. The new species was collected only in the Zemplén Mountains in Hungary, in similar biotopes (between and under the leaf-litter) to those of the common F. ratzeli. It may be hypothesized that it fills the ecological role of F. ratzeli because, although all three compared species occurred in this area, F. ratzeli was very seldom found and never together with the new species. The three species were also examined by molecular methods. Which confirmed the existence of three distinct species. Both morphological and molecular studies indicate that F. ratzeli is still not a homogeneous species. It seems that the applied molecular methods help distinguish morphologically very similar species.

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Mitochondrial Gene Mutations in the tRNALeu(UUR) Region and Diabetes: Prevalence and Clinical Phenotypes in Japan

Clinical Chemistry ◽

10.1093/clinchem/47.9.1641 ◽

2001 ◽

Vol 47 (9) ◽

pp. 1641-1648 ◽

Cited By ~ 62

Author(s):

Kumiko Ohkubo ◽

Akemi Yamano ◽

Mariko Nagashima ◽

Yumiko Mori ◽

Keizo Anzai ◽

...

Keyword(s):

Diabetes Mellitus ◽

Mitochondrial Gene ◽

Age At Onset ◽

Gene Mutations ◽

Acid Decarboxylase ◽

Rapid Progression ◽

Polymorphism Analysis ◽

Nucleotide Position ◽

A3243g Mutation ◽

Mild Defect

Abstract Background: Mitochondrial gene mutations play a role in the development of diabetes mellitus. We have assessed the frequency of the A3243G and other mitochondrial mutations in Japan and in the relationship to clinical features of diabetes. Methods: DNA was obtained from peripheral leukocytes of 240 patients with diabetes mellitus (39 with type 1; 188 with type 2; 13 with gestational diabetes) and 125 control subjects. We used PCR-restriction fragment length polymorphism analysis (ApaI) for A3243G and PCR-single-strand conformation polymorphism analysis to determine the mutations in the mitochondrial gene including nucleotide position 3243. Results: The A3243G mutation was found in seven patients, and an inverse relationship was observed between the degree of heteroplasmy and the age at onset of diabetes. A3156G, G3357A, C3375A, and T3394C were detected in addition. Those who shared the same mutation showed similar clinical characteristics, thus representing a putative clinical subtype. The patients with A3156G had a sudden onset of hyperglycemia and showed a rapid progression to an insulin-dependent state with positive anti-glutamic acid decarboxylase antibody. Those with T3394C showed a mild defect in glucose-stimulated insulin secretion, and hyperglycemia appeared after adding such factors as aging or obesity. Conclusions: The identification of mitochondrial gene mutations allows preclinical diagnosis of diabetes and prediction of the age at onset by evaluating the degree of heteroplasmy in cases with A3243G. Mutation detection may also be important for patient management and identification of affected family members.

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ROLE OF MANIPUR CHAKRA ACTIVATION IN TREATMENT OF DIABETES MELLITUS

Ayurline: International Journal of Research in Indian Medicine ◽

10.52482/ayurline.v5i01.489 ◽

2021 ◽

Vol 5 (01) ◽

Author(s):

Dr. yasmeen khan ◽

VINOD CHOUDHARI

Keyword(s):

Diabetes Mellitus ◽

Psychological Health ◽

Energy Flow ◽

Spinal Column ◽

Endocrine System ◽

The Body ◽

Unavoidable Stress ◽

Treatment Of Diabetes ◽

Flow Through

Chakras are the circular vortex of energy lying across the seven different points on your spinal column. On a physical level, chakras are associated with the major nerve plexuses and endocrine glands in the body. Many asanas have particularly powerful and beneficial effect on one or more of these glands or plexuses. Chakras are not the physical entity and reside in energy body, but help us to understand the body functions and emotions. As they are psychoactive energy centers in human body they are directly related to physiological and psychological health of human being. The unavoidable stress in lifestyle has blocked the entire chakra system and imbalance in the energy flow causes various diseases. We have the great ancient knowledge with us to regulate the energy flow through chakras and get cured from various disorders related to that chakra. Mechanism of yoga effects is the most visible in the systems of chakras and nadis, which specifically and directly correlates with nervous and endocrine system. This study is a small effort to prove the effect and application of Manipur chakra activation in management of life style disorders especially diabetes mellitus.

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A Patient of Fish Odour Syndrome with Recurrent Tinea Corporis

Liaquat National Journal of Primary Care ◽

10.37184/lnjpc.2707-3521.3.13 ◽

2021 ◽

Keyword(s):

Family History ◽

Rural Area ◽

Family Members ◽

The Body ◽

Tinea Corporis ◽

Interesting Fact ◽

Socially Isolated

This was a case of the 43-year-old male complaining of severe well-demarcated irregular-shaped, centrally non-cleared, extensive, non-scaly plaques with raised borders. The patient was having severe itching all over the body. The interesting fact about this case is that this patient's sweat has had the smell of rotten fish for the last 5 years. This patient is a known case of Fish odour syndrome diagnosed by the presence of trimethylaminuria in his urine 5 years back. The patient informed us that when he didn't have the bad odour in his sweat, he did not develop the above-mentioned lesions of tinea corporis. The patient was very frustrated and socially isolated because of severe itching and the bad odour in his sweat. The role of trimethylamine (TMA) causes bad odour in the sweat, mouth and urine. We don't encounter cases like this very often and we are reporting this case because after a detailed inquiry about the patient's family history the same condition persists with 4 other patient's family members but they did not report themselves as they are mostly less educated, live in a rural area and they don't want to visit any doctor. We want to increase the knowledge of the medical fraternity to deal with these cases in a better way and maybe we are opening a new horizon for the researchers.

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Role of Polymorphism IL-1β Gene in Development of Febrile Seizures in Children (Review)

Journal of New Medical Technologies ◽

10.12737/13324 ◽

2015 ◽

Vol 22 (3) ◽

pp. 183-188

Author(s):

Мартынова ◽

G. Martynova ◽

Шнайдер ◽

N. Shnayder ◽

Строганова ◽

...

Keyword(s):

Family History ◽

Literature Search ◽

Positive Family History ◽

Gene Mutations ◽

Febrile Seizures ◽

Cytokine Gene ◽

Cytokine Gene Polymorphism ◽

History Of ◽

Definition Of

This review provides information on the definition of febrile seizures in children, presents modern data on the dependence of the genetic predisposition to IL-Ιβ gene mutations and development of febrile seizures in children. Purpose of the review is analysis of available publications devoted to the study of the role of IL-Ιβ polymorphism in the development of febrile seizures in children. The literature search included available full-text publications in Russian and English databases. It was found that febrile seizures are characteristic for children from 6 months to 3 years. The causes of seizures still serve as a subject of debate. Family history of febrile seizures in the development is most important risk factor. Positive family history can be detected in 25-40% of patients. Components of the immune response may play a role in the pathogenesis of febrile seizures. One factor is a pro-inflammatory cytokine gene polymorphism of interleukin-ΐβ (IL-Ιβ). The analysis of the literature demonstrates the need for a detailed study of the genetic causes of febrile seizures in children, especially in patients with a positive family history.

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Atopic Dermatitis and Psoriasis as Overlapping Syndromes

Mediators of Inflammation ◽

10.1155/2020/7527859 ◽

2020 ◽

Vol 2020 ◽

pp. 1-4

Author(s):

A. Bozek ◽

M. Zajac ◽

M. Krupka

Keyword(s):

Atopic Dermatitis ◽

Family History ◽

Atopic Disease ◽

Skin Lesions ◽

The Body ◽

T Helper 17 ◽

Tnf Α ◽

History Of

Background/Objectives. Cooccurrence of atopic dermatitis (AD) and psoriasis (PS) is not common. However, both diseases are still of interest because of their comprehensive and diverse mechanisms. This study aimed to present the clinical and immunological profiles of patients with concomitant AD and PS and compare them with those of patients with only one of the diseases. Methods. In this observational study, 38 children with concomitant AD and PS with a mean age of 6.5 ± 3.2 yrs were compared with 41 similar patients with AD only ( 5.3 ± 5.1 yrs) and 28 patients with PS only ( 6.4 ± 4.3 yrs). All patients underwent dermatological examinations, including determination of SCORAD and PASI scores. TNF-α, IFN-γ, IL-2, IL-4, IL-5, IL-6, IL-8, IL-12, IL-17, IL-18, IL-22, I:-33, and TARC/CCL17 were measured by ELISA according to the manufacturer’s instructions. Results. Patients with concomitant AD and PS were frequently boys and overweight and had skin lesions equally distributed throughout the body. Children with concomitant AD and PS were more likely to report a family history of atopic disease than children with only AD or PS, and those with AD were more likely to report a family history of atopic disease than those with PS. Significant differences were observed in the concentration of IL-17 between patients with AD and PS and those with only AD or PS: 9.1 ± 3.7 pg/ml vs. 4.8 ± 2.9 pg/ml; and 9.1 ± 3.7 pg/ml vs. 5.2 ± 3.9 pg/ml, respectively (PD vs. AD, p = 0.01 ; PD vs. PS, p = 0.03 ). Conclusions. AD and PS can coexist. The role of T helper 17 cells may be more essential than believed.

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