scholarly journals Genetic causes of reproductive problems in the Bosnian women population

2018 ◽  
Vol 9 (5) ◽  
pp. 12-16
Author(s):  
Mirela Mackic-Djurovic ◽  
Dunja Rukavina ◽  
Lejla Ahmetas
Keyword(s):  
Chromosomal Aberrations ◽  
Genetic Factors ◽  
Chromosomal Abnormalities ◽  
Population Sample ◽  
Medical Sciences ◽  
Abnormal Karyotype ◽  
Female Population ◽  
Reproductive Disorder ◽  
The Difference ◽  
Bosnian Women

Background: The causes of infertility and recurrent spontaneous abortions are diverse and numerous – including non-genetic and genetic factors – whereby the importance of genetic factors in pathogenesis of infertility is becoming more and more common. Chromosomal abnormalities and genetic defects can cause reproduction failures, and for this reason genetic analysis can play an important role in reproductive problems research.Aims and Objective: This study aims to determine the type and frequency of chromosomalaberrations in the female population sample, as well as to determine if the difference between groups with and without chromosomal aberrations was statistically significant.Materials and Methods: One hundred women aged 15-46 were included in the study, allhaving different reproductive disorder diagnoses and requiring karyotype analysis in the Sarajevo Medical Faculty Genetic Center. Cytogenetic analysis was performed on the peripheral blood, which was cultured for four days, using GTG banding forchromosomalanalysis.Results: Out of 100 women included in the study, an abnormal karyotype was found in 16 of them (16%). The difference between the frequency of normal and abnormal karyotype in women with reproductive problems identified in this study was found to be statistically significant. The pattern of chromosomal aberrations was similar to that reported in the previous cytogenetic studies with similar inclusion criteria.Conclusion: This fact should be taken in the consideration in order to estimate true etiology of reproductive problems and it is a valuable information in the process of genetic counseling and decision making in assisted reproductive technology.Asian Journal of Medical Sciences Vol.9(5) 2018 12-16

scholarly journals IDDB: a comprehensive resource featuring genes, variants and characteristics associated with infertility

2020 ◽  
Vol 49 (D1) ◽  
pp. D1218-D1224
Author(s):  
Jing Wu ◽  
Danjun Li ◽  
Xinyi Liu ◽  
Qian Li ◽  
Xinheng He ◽  
...  
Keyword(s):  
Genetic Factors ◽  
Chromosomal Abnormalities ◽  
Clinical Manifestations ◽  
Model Organisms ◽  
Disease Phenotype ◽  
Structural Variants ◽  
Pathogenic Variants ◽  
Reproductive Disorder ◽  
Infertility Patients ◽  
Systematic Knowledge

Abstract Infertility is a complex multifactorial disease that affects up to 10% of couples across the world. However, many mechanisms of infertility remain unclear due to the lack of studies based on systematic knowledge, leading to ineffective treatment and/or transmission of genetic defects to offspring. Here, we developed an infertility disease database to provide a comprehensive resource featuring various factors involved in infertility. Features in the current IDDB version were manually curated as follows: (i) a total of 307 infertility-associated genes in human and 1348 genes associated with reproductive disorder in 9 model organisms; (ii) a total of 202 chromosomal abnormalities leading to human infertility, including aneuploidies and structural variants; and (iii) a total of 2078 pathogenic variants from infertility patients’ samples across 60 different diseases causing infertility. Additionally, the characteristics of clinically diagnosed infertility patients (i.e. causative variants, laboratory indexes and clinical manifestations) were collected. To the best of our knowledge, the IDDB is the first infertility database serving as a systematic resource for biologists to decipher infertility mechanisms and for clinicians to achieve better diagnosis/treatment of patients from disease phenotype to genetic factors. The IDDB is freely available at http://mdl.shsmu.edu.cn/IDDB/.

scholarly journals Male and Female Cervical Spine Biomechanics and Anatomy: Implication for Scaling Injury Criteria

2017 ◽  
Vol 139 (5) ◽  
Author(s):  
Narayan Yoganandan ◽  
Cameron R. Bass ◽  
Liming Voo ◽  
Frank A. Pintar
Keyword(s):  
Cervical Spine ◽  
Female Population ◽  
Male And Female ◽  
Injury Criteria ◽  
Motion Responses ◽  
Geometric Scaling ◽  
Biomechanical Responses ◽  
The Difference ◽  
Female Specific ◽  
The Military

There is an increased need to develop female-specific injury criteria and anthropomorphic test devices (dummies) for military and automotive environments, especially as women take occupational roles traditionally reserved for men. Although some exhaustive reviews on the biomechanics and injuries of the human spine have appeared in clinical and bioengineering literatures, focus has been largely ignored on the difference between male and female cervical spine responses and characteristics. Current neck injury criteria for automotive dummies for assessing crashworthiness and occupant safety are obtained from animal and human cadaver experiments, computational modeling, and human volunteer studies. They are also used in the military. Since the average human female spines are smaller than average male spines, metrics specific to the female population may be derived using simple geometric scaling, based on the assumption that male and female spines are geometrically scalable. However, as described in this technical brief, studies have shown that the biomechanical responses between males and females do not obey strict geometric similitude. Anatomical differences in terms of the structural component geometry are also different between the two cervical spines. Postural, physiological, and motion responses under automotive scenarios are also different. This technical brief, focused on such nonuniform differences, underscores the need to conduct female spine-specific evaluations/experiments to derive injury criteria for this important group of the population.

scholarly journals The possible significance of trisomy 8 in acute myeloid leukemia

2017 ◽  
Vol 5 (6) ◽  
pp. 2652 ◽  
Author(s):  
Salil N. Vaniawala ◽  
Monika V. Patel ◽  
Pratik D. Chavda ◽  
Shivangi H. Zaveri ◽  
Pankaj K. Gadhia
Keyword(s):  
Acute Myeloid Leukemia ◽  
Chromosomal Aberrations ◽  
Myeloid Leukemia ◽  
Chromosomal Abnormalities ◽  
Prognostic Significance ◽  
Chromosomal Translocation ◽  
Banding Technique ◽  
Trisomy 8 ◽  
Increased Risk ◽  
Acute Myeloid

Background: Acute myeloid leukemia (AML) is a heterogeneous disorder that results from a block in the differentiation of haematopoietic progenitor cells along with uncontrolled proliferation. Trisomy 8 is the most common recurring numerical chromosomal aberrations in acute myeloid leukemia (AML). It occurs either as a sole anomaly or together with other additional chromosomal aberrations. The prognostic significance of trisomy 8 in presence of other additional chromosomal abnormality depends on clonal cytogenetic changes. The patients with trisomy 8 had shorter survival with significantly increased risk with other chromosomal abnormality.Methods: Total 139 patients were screened between January 2016 to November 2016 who were suspected of AML cases. Bone marrow cultures were set up using conventional cytogenetic methods. Chromosomal preparation was made and subjected to GTG banding technique. Banded metaphases were analysed and karyotyped for further analysis.Results: Cytogenetic evaluation of karyotyped of 139 suspected AML patients showed 52 with t(8;21)(q22;q22), 36 with t(15;17)(q22;q12), and 11 with inv(16)(p13;q22). The rest 40 cases found with additional chromosomal abnormalities, of which 16 were sole trisomy 8 and 24 cases were found with other chromosomal abnormalities In addition, only one person found with t(8;21) and trisomy 8, while  three person having t(15;17) with trisomy 8.Conclusions: AML is considered to be one of the most important cytogenetic prognostic determinants. Recurrent chromosomal translocation with trisomy 8 varying 1.9% for t(8;21) and 8.3% for t(15;17). In the present study trisomy 8 in AML with known favourable anomalies is very small. Therefore, it cannot be taken as a prognostic marker.

scholarly journals Analgesic Effect of Apotel Versus Pethidine After Hemilaminectomy

2019 ◽  
Vol 5 (4) ◽  
pp. 185-189
Author(s):  
Mohammadreza Emamhadi ◽  
◽  
Hamid Behzadnia ◽  
Seifollah Jafari ◽  
Mohammadreza Zamanidoust ◽  
...  
Keyword(s):  
Recovery Process ◽  
Cross Sectional Study ◽  
Medical Sciences ◽  
Cross Sectional ◽  
Vas Score ◽  
Relieve Pain ◽  
Present Cross Sectional Study ◽  
Significant Difference ◽  
Vas Scores ◽  
The Difference

Background: Postoperative pain is a common phenomenon, and its management affects considerably on the recovery process, and patients’ satisfaction. Apotel and pethidine are two conventional medicines used to relieve pain after operation. Objectives: The present study aimed to compare the effect of intravenous injection of Apotel and intramuscular injection of pethidine in relieving pain after hemilaminectomy. Materials & Methods: In the present cross-sectional study, 150 patients who underwent hemilaminectomy were recruited between May 2015 and November 2015. They were taking either Apotel (n=75) or pethidine (n=75) after the operation, which was done at Poursina Hospital affiliated to Guilan University of Medical Sciences, Rasht City, Iran. The patients’ pain levels were measured using visual analog scale (VAS), and the results were compared between the 2 groups. Results: There was no significant difference in the total VAS score between the Apotel and pethidine groups (P=0.189). However, there was a significant reduction in VAS score hours 2 (P=0.03) and 4 (P=0.004) hours after the injection of Apotel in this group, compared with those scores in the pethidine group. Also, VAS scores at other times (8, 12, 20, 28 hours after the injection) were lower than those in the pethidine group, but the difference was not significant. Conclusion: Apotel was better pain-killer in the early hours after the first injection compared to pethidine. But its effect was similar to pethidine at the late hours after the first injection. Therefore it seems that Apotel is better painkiller after laminectomy, especially in the early hours after the operation.

scholarly journals “Perrotta Psychotherapeutic Protocol for Disorders of the Neurotic Area” (PPP-DNA): Proposal of protocol, profiles and clinical applications. Research

2021 ◽  
pp. 010-018
Author(s):  
Perrotta Giulio
Keyword(s):  
Total Population ◽  
Resistance To Change ◽  
Population Sample ◽  
Female Group ◽  
Defence Mechanisms ◽  
Male Population ◽  
Female Population ◽  
Clinical Interviews ◽  
Adverse Conditions ◽  
Male Group

Purpose: This research addresses the topic of anxiety, phobic and obsessive disorders. In this research, the theme is addressed to the psychopathological investigation of personalities, according to the PICI-2TA model (Perrotta Integrative Clinical Interviews, version 2-TA), the PAD-Q (Perrotta Affective Dependency Questionnaire), the PSM (Perrotta Sexual Matrix), the PDM-Q (Perrotta Defence Mechanisms Questionnaire) and the PHEM model (Perrotta Human Emotions Model), in order to design a direct and functional psychotherapeutic protocol to manage the psychopathological process in the shortest time possible, according to the principles of efficiency, effectiveness and economy, trying to reduce the symptomatology until the total regression by the fifth-tenth session. Methods: Clinical interview and administration of the PICI-2, the PAD-Q, the PSM, and the PDM-Q. Results: In the male group, aged 18-36 years, there were 8 people, of whom 6 (75%) reacted to the total resolution of the neurotic symptomatology described between the fifth and ninth sessions, while only 2 (25%) said they felt their neurotic symptoms had subsided. In the male group, aged 37-54 years, there are 5 people, of whom 4 (80%) reacted to the total resolution of neurotic symptomatology described between the fifth and ninth sessions. In the male group, aged 55-72 years, there were 6 people, of whom 4 (66.6%) reacted to the total resolution of neurotic symptoms described between the ninth and tenth sessions. In the female group, aged 18-36 years, there were 22 people, of whom 18 (82%) reacted to the total resolution of neurotic symptoms described between the fifth and ninth sessions. In the female group, aged 37-54 years, there were 13 people, of whom 9 (69.2%) reacted to the total resolution of neurotic symptoms described between the fifth and ninth session. In the female group, aged 55-72 years, there were 11 people, of whom 8 (72.7%) reacted to the total resolution of neurotic symptoms described between the fifth and ninth sessions. Conclusions: The research showed that the PPP-DNA protocol, for neurotic disorders, was effective in the total population sample for 74.36%, for the fractionated male population sample for 73.86% and for the fractionated female population sample for 74.86%, with resistance to change identified in adverse conditions of family, environmental, socio-cultural and temporal type (of duration of neurotic symptomatology), however able to promote an attenuation of the symptomatology suffered by at least 50%.

scholarly journals Association between family history and the onset age of essential hypertension in Han population in Shanghai China

2019 ◽  
Author(s):  
li anle ◽  
Qian Peng ◽  
Yue Qin Shao ◽  
Yi Ying Zhang ◽  
Fang Xiang
Keyword(s):  
Essential Hypertension ◽  
Family History ◽  
Genetic Factors ◽  
Nuclear Family ◽  
Age Of Onset ◽  
Control Group ◽  
Case Group ◽  
Onset Age ◽  
Han Population ◽  
The Difference

Abstract Importance Genetic factors are important influencing factors of essential hypertension, and family history (FH) is an important marker of genetic factors. Objective To explore the association between family history and the onset age of essential hypertension in Han population in Shanghai China. Methods According to l:l matched pairs design，342 precursor of hypertension and 342 controls were selected and investigate their nuclear family members in the case-control study. The diagnostic information of hypertension in all relatives of these two groups was investigated. The method of genetic epidemiology research was used to explore the effect of family history. Results The average prevalence of hypertension was 23.32%. The prevalence of hypertension of first-degree relatives was 33.99%; the prevalence of second- degree relatives was 17.60%; the prevalence of third-degree relatives was 13.51%. All prevalence of hypertension of case group relatives were significantly higher than that of control group relatives. The average onset age in population with positive FH is 48.74±11.16 years old, and the average onset age in population with negative FH is 54.38±9.87 years old. The difference about two FH groups showed statistically significant (t=4.589, P<0.001). The average onset age of offspring with father, mother, grandpa, grandma, maternal grandpa or maternal grandma positive was respectively 48.42± 11.16, 49.16±11.12, 39.55±11.95, 39.88±11.90, 43.67±9.77 or 43.64±10.21 years old; and the average onset age of children with father, mother, grandpa, grandma, maternal grandpa or maternal grandma negative was respectively 51.90± 10.81, 51.17±11.04, 51.07±10.59, 51.08±10.60, 50.50±11.09 or 50.57±11.06 years old. The difference about two groups showed statistically significant. Conclusion Family history has a positive effect on the occurrence of hypertension, and lead to earlier age of onset of offspring. The effects are different among parent and grandparent in Han in Shanghai China.

Physiologic Variation Of Renal Function In Twins: Diuresis After Water Intake

1958 ◽  
Vol 7 (1) ◽  
pp. 19-24 ◽  
Author(s):  
Bertha M. Aschner ◽  
Stanley M. Gartler
Keyword(s):  
Renal Function ◽  
Maximum Rate ◽  
Genetic Factors ◽  
Twin Pair ◽  
Urine Flow ◽  
Tubular Cells ◽  
Renal Tubular Cells ◽  
Diuretic Response ◽  
The Difference ◽  
Renal Tubular

SUMMARYIn six monozygotic and six dizygotic healthy twin pairs the urine elimination after rapid drinking of 1000 cc of water (Fishberg-Volhard test) was studied. Considerabbe variation wes observed in the diuretic response of these individuals, particularly in the maximum rate of the reactive diuresis. The minute volumes of urine during the half-hour period of the largest output were compared between the partners of each twin pair. It was found that the difference of the maximum rate of urine flow was significantly (0.01 level) smaller between one-egg than between two-egg twins under otherwise equal conditions. The concept of genetic factors controlling the function of the renal tubular cells is discussed.

scholarly journals Effects of Maternal Factors on Birth Weight in Japan

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Misato Terada ◽  
Yoshio Matsuda ◽  
Masaki Ogawa ◽  
Hideo Matsui ◽  
Shoji Satoh
Keyword(s):  
Birth Weight ◽  
Chromosomal Abnormalities ◽  
Mode Of Delivery ◽  
Female Gender ◽  
Analysis Of Covariance ◽  
Confounding Factors ◽  
Term Infants ◽  
The Difference ◽  
Gestational Duration

Objective. We investigated the possible factors related to the birth weight (BW) using the Japanese perinatal database.Methods. The live infants born at 37 to 41 weeks of gestation were enrolled in this study. Cases with diabetic pregnancy, preeclampsia, an anomalous fetus, and a fetus with chromosomal abnormalities were excluded. A multiple regression analysis for confounding factors and an analysis of covariance (ANCOVA) for comparing the BW in 2006 and 2010 were used for the statistical analysis.Results. The BW significantly decreased from 2950.8 g in 2006 (n=27,723) to 2937.5 g in 2010 (n=38,008) in the overall population, and this decrease was similar for male and female neonates. All confounding factors, except for the mode of delivery, affected the BW. Primiparity, smoking, and a female gender were related to the decrease in BW, whereas maternal age, maternal height, weight gain during pregnancy, BMI, the use ofin vitrofertilization, induction of labor, and gestational duration were related to an increased BW. The ANCOVA showed that no significant change of the BW was seen between 2006 and 2010 (the difference was 2.164 g,P=0.414).Conclusion. The gestational duration is the most important factor affecting the BW in singleton term infants.

Chromosomal Aberrations in a Patient with Severe Psychopathology

1992 ◽  
Vol 161 (4) ◽  
pp. 551-555
Author(s):  
Gunnar Akner ◽  
Karl-Henrik Gustavson ◽  
Eva Håkansson ◽  
Jan Sääf ◽  
Hans Kiessling ◽  
...  
Keyword(s):  
Female Patient ◽  
Chromosomal Aberrations ◽  
Chromosomal Abnormalities ◽  
Severe Psychopathology ◽  
Plasma Factors

The case of a female patient showing aggressive, compulsive, destructive behaviour, ritualistic faecal smearing, and hyperactivity is presented. The behaviour is long standing, therapy-resistant, and its aetiology is unknown, although it is seemingly associated with chromosomal abnormalities secondary to abnormal plasma factors.

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