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1.
Sensors (Basel) ; 24(17)2024 Aug 30.
Article in English | MEDLINE | ID: mdl-39275545

ABSTRACT

This study investigates magnetic flux density (B) and radiofrequency electromagnetic field (RF-EMF) measurements on electric buses operating in Samsun, Turkey, focusing on two bus routes (called E1 and E4) during the morning and evening hours. Measurements were taken under diverse operational conditions, including acceleration, cruising, and braking, at locations of peak passenger density. Along the E1 route, the magnetic field intensity varied significantly based on the bus position, road slope, and passenger load, with notable increases during braking. In contrast, the E4 route showed a lower magnetic field intensity and RF-EMF values due to its straighter trajectory and reduced operational stops. The highest RF-EMF measurement recorded was 6.01 V/m, which is below the maximum levels established by the ICNIRP guidelines. In 11 out of the 12 different band-selective RF-EMF measurements, the highest contribution came from the downlink band of the base stations, while in only one measurement, the highest contribution originated from the uplink bands of the base stations. All data were subject to the Anderson-Darling test, confirming the generalized extreme value distribution as the best fit for both B and RF-EMF measurements. Additionally, the study assessed B levels inside and outside the bus during charging, revealing heightened readings near the pantograph. These findings significantly contribute to our understanding of electromagnetic field exposure in electric bus environments, highlighting potential health implications and informing the development of targeted mitigation strategies.

2.
Iberoam. j. med ; 5(3): 110-117, 2023. tab
Article in English | IBECS | ID: ibc-226798

ABSTRACT

Introduction: This study aimed to determine pregnant women's nutritional status and habits in the middle and low-income groups and the level of compliance with the Mediterranean diet. The Mediterranean diet supports healthy fetal growth and development by providing sufficient nutrients for pregnant women and protecting against the development of obstetrical pathologies.Materials and Methods: One hundred and thirty-two pregnant women aged 17-45 were included. The demographic characteristics and anthropometric measurements, systolic blood pressure, fasting, and postprandial blood glucose values were noted.24-hour recall was determined and The Mediterranean Diet Quality Index (MDQI) developed by Gerber et al. was used to assess nutritional status. Nutritional habits and food attitude changes during gestation were recorded.Results: Overall, 15.2% of the pregnant women had good, 54.5% had medium-good, and %29.5 had medium-poor adherence to MDQI. The dietary macronutrient intakes were close to the daily dietary recommended intakes (DRI); however, micronutrient intakes were below the recommendations. Pre-pregnancy mean BMI was found to be 26.4 kg/m2.Conclusions: According to the mean pre-pregnant BMI, the pregnant women were overweight, and their adherence to the Mediterranean diet needed to be improved. General measures should be taken to improve pregnant women's diets and micronutrient intakes, even in the Mediterranean countries where this diet is the daily nutrition habit of local inhabitant pregnant women. (AU)


Introducción: La dieta mediterránea contribuye a un crecimiento y desarrollo fetal saludable, proporcionando suficientes nutrientes a mujeres embarazadas y protegiendo contra el desarrollo de patologías obstétricas. Este estudio tiene como objetivo determinar el estado nutricional y los hábitos de mujeres embarazadas de grupos de ingresos medios y bajos y su nivel de cumplimiento de la dieta mediterránea.Materiales y métodos: Se incluyeron y siguieron a 132 gestantes de entre 17 y 45 años. Se anotaron sus características demográficas y medidas antropométricas, presión arterial sistólica, y glucemia en ayunas y posprandial. Para evaluar su estado nutricional se utilizaron registros dietéticos de consumo de 24 horas y el indice de calidad de la dieta mediterránea (MDQI). Se registraron los hábitos nutricionales y los cambios de actitud alimentaria durante la gestación.Resultados: En general, la adherencia de las gestantes al MDQI fue buena en el 15,2%, media-buena en el 54.5%, y media-mala en el 29,5% de los casos. Las ingestas dietéticas de macronutrientes se aproximaron a las ingestas diarias recomendadas (IDR); sin embargo, la ingesta de micronutrientes estuvo por debajo de las recomendaciones. El IMC medio antes del embarazo era de 26,4 kg/m2.Conclusiones: De acuerdo con el IMC medio previo al embarazo, las gestantes tenían sobrepeso y debían mejorar su adherencia a la dieta mediterránea. Es necesario tomar medidas generales para mejorar la dieta y la ingesta de micronutrientes de mujeres embarazadas, incluso en países mediterráneo donde esta dieta es el hábito nutricional diario de sus habitantes. (AU)


Subject(s)
Humans , Female , Prenatal Nutrition , Gestational Weight Gain , Diet, Mediterranean , Anthropometry
3.
Turk Arch Pediatr ; 57(1): 61-67, 2022 Jan.
Article in English | MEDLINE | ID: mdl-35110080

ABSTRACT

BACKGROUND: Many factors are affecting intrauterine growth. The role of Wingless-type (Wnt) inducible signaling pathway protein-1 (WISP1), a novel adipokine and placental proteoglycans in intrauterine growth, is not known. We aimed to measure umbilical cord blood levels of glucose, insulin, leptin, WISP1, and placental proteoglycans [glypican-1 (GPC1), glypican-3 (GPC3), and syndecan-1 (SDC1)] which are thought to have an important role in fetal growth and investigate their relation with birth weight. METHODS: Full-term neonates were included in this prospective, cross-sectional study and classified as appropriate for gestational age (AGA), small for gestational age (SGA), and large for gestational age (LGA) according to their birth weight. Umbilical cord blood levels of glucose, insulin, leptin, WISP1, GPC1, GPC3, and SDC1 were measured. RESULTS: Leptin levels were higher in LGA newborns compared to AGA and SGA newborns, while WISP1, GPC1, GPC3, and SDC1 levels were not different between the three groups. Leptin and GPC1 levels were higher in infants of mothers with gestational diabetes mellitus compared to infants of non-diabetic mothers, while WISP1, GPC3, and SDC1 were not different between the groups. Leptin was positively correlated with insulin, birth weight, and maternal weight. While there was a strong correlation between the WISP1, GPC1, GPC3, and SDC1 levels; there was no correlation between the birth weight, maternal weight, glucose, insulin, and WISP1, GPC1, GPC3, and SDC1 levels. CONCLUSION: Umbilical cord blood levels of GPC1, GPC3, SDC1, and WISP1 were not different between SGA, AGA, and LGA infants. The significance of serum levels of these adipokines and proteoglycans remains to be elucidated.

4.
Turk J Obstet Gynecol ; 18(1): 65-67, 2021 Mar 12.
Article in English | MEDLINE | ID: mdl-33715335

ABSTRACT

Immune system vulnerability seems to play a significant role in the development and malignant transformation of pre-malignant squamous cell lesions. Emberger syndrome is a condition that affects the immune system, which is caused by GATA2 gene mutations. Our objective was to present the gynecologic expressions of this rare syndrome in our case. Here, we discussed a relatively young patient with findings related to Emberger syndrome such as recurrent infections, myelodysplastic syndrome, lower extremity edema, and multifocal, multicentric premalignant/malignant genital lesions. Sequencing of the GATA2 gene was accomplished for suspected Emberger syndrome and a point mutation in intron5, c1143+8C >T was detected. Gynecologists may play an important role in the early detection of Emberger syndrome and guiding multidisciplinary treatment options as the initial signs related to this rare entity can appear on the genitalia.

5.
Pan Afr Med J ; 37: 347, 2020.
Article in English | MEDLINE | ID: mdl-33738035

ABSTRACT

Adnexal torsion in pregnancy is a rare gynecologic emergency that causes severe abdominal pain. The current paper reports a case of a woman with 18 weeks pregnancy who was referred to our tertiary clinic with sudden lower abdominal pain. Ultrasound scan showed a very large multicystic adnexal torsion mass on the right side displacing the gravid uterus to the anterior left. An oblique paramedian incision was made for right salpingo-oophorectomy. To our knowledge the incision presented in this case has not been described in the literature previously. We suggest an alternative incision to be used during pregnancy especially for emergencies due to an adnexal mass.


Subject(s)
Adnexal Diseases/diagnosis , Ovarian Torsion/diagnosis , Pregnancy Complications/diagnosis , Abdominal Pain/etiology , Adnexal Diseases/surgery , Adult , Emergencies , Female , Humans , Ovarian Torsion/surgery , Pregnancy , Pregnancy Complications/surgery , Salpingo-oophorectomy/methods , Ultrasonography
6.
Ann Ital Chir ; 90: 328-243, 2019.
Article in English | MEDLINE | ID: mdl-31354150

ABSTRACT

AIM: This study aimed to compare the frequency and risk factors of de novo urinary incontinence (UI) following abdominal and vaginal hysterectomies for benign disease. METHODS: The study included patients without incontinence history who underwent abdominal or vaginal hysterectomy for benign indications. Incontinence statuses were assessed at least one year after hysterectomies. Data for age, body mass index (BMI), parity, mode of delivery, and the types of hysterectomy and postoperative UI were recorded. RESULTS: The study included a total of 196 patients with mean age of 52.8±11.4 years. Of these, 149 (76%) underwent abdominal hysterectomy (AH) and 47 (24%) had vaginal hysterectomy (VH). The mean follow-up period was 1.97±1.43 years. A total of 41 (20.9%) patients were diagnosed with UI after hysterectomy. De novo UI occurrence following AH and VH was similar(p>0.05). Also, UI types were not significantly found different in either group (p>0.05). CONCLUSION: This study showed that de novo UI occured frequently after hysterectomies. In addition, development and types of UI following AH and VH were comparable. KEY WORDS: Abdominal hysterectomy, Urinary incontinence, Vaginal hysterectomy.


Subject(s)
Hysterectomy/methods , Postoperative Complications/epidemiology , Urinary Incontinence/epidemiology , Abdomen , Adult , Female , Humans , Hysterectomy, Vaginal , Middle Aged , Risk Factors
7.
Ginekol Pol ; 89(10): 536-540, 2018.
Article in English | MEDLINE | ID: mdl-30393840

ABSTRACT

OBJECTIVES: The success rate of methotrexate (MTX) therapy varies among tubal ectopic pregnancies. Common methylenetetrahydrofolate reductase (MTHFR) polymorphisms (C677T&A1298C) have been suggested to alter MTX effect. This study aimed to assess and compare MTX treatment failure rates with respect to MTHFR polymorphisms in trophoblasts of ectopic tubal pregnancies. MATERIAL AND METHODS: A retrospective chart review of tubal ectopic pregnancies was conducted and 34 eligible cases were found. Paraffinized blocks of ectopic trophoblastic tissues were retrieved from the archives of pathology department. Common MTHFR polymorphisms were studied on microdissected trophoblastic tissues. Sixteen cases with history of failed MTX therapy (study group) and 18 control cases were compared for their pertinent clinical characteristics and common MTHFR polymorphisms (C677T&A1298) data. RESULTS: In the study group, there were 8 (50%) C677T single nucleotide polymorphisms (SNP) and 9 (56.7%) A1298C SNP. Polymorphism rates were not found to be different between two groups for neither polymorphism (p > 0.05 for both). Number of compound heterozygotes was 3 (18.7%) in study group and 5 (27.7%) in controls (p = 0.693). In addition, MTHFR polymorphism presence seemed to have no effect on interval serum ß-hCG concentration change in MTX-fail group (p=0.693). CONCLUSIONS: Our data implied that common MTHFR polymorphisms of ectopic trophoblastic tissue are not associated with MTX failure in patients with tubal pregnancies. Additionally, serum ß-hCG concentration changes caused by MTX treatment and studied MTHFR polymorphisms are likely independent.


Subject(s)
Methotrexate/therapeutic use , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Polymorphism, Genetic , Pregnancy, Tubal/drug therapy , Pregnancy, Tubal/genetics , Adult , Case-Control Studies , Female , Genotype , Humans , Polymorphism, Single Nucleotide , Pregnancy , Young Adult
8.
J Obstet Gynaecol ; 38(8): 1088-1092, 2018 Nov.
Article in English | MEDLINE | ID: mdl-29884106

ABSTRACT

The aim of the present study was to explore the possible relations of maternal serum and amniotic fluid nitric oxide (NO) and of vascular endothelial growth factor A (VEGF-A) concentrations with uterine artery Doppler indices (UtADs) in a healthy second trimester obstetric population. In this regard, the levels of NO and VEGF-A were measured in maternal sera and the amniotic fluid samples were in 36 subjects who were in their early second trimester of pregnancy. The mean levels for VEGF-A were 110.3 ± 31.5 pg/ml in maternal serum and 149.6 ± 31.3 pg/ml in amniotic fluid. Mean levels for NO were 5.7 ± 4.7 µmol in maternal serum and 12.9 ± 3.4 µmol in amniotic fluid. UtADs were measured concurrently with the sample collections. The mean value for uterine artery pulsatility index (PI) was 1.3 ± 0.4. The measurements were then analysed for possible correlations, whereby no correlation was found between UtAD and maternal serum levels of either molecule (p = .828 and p = .662 for VEGF-A and NO, respectively). However, a positive correlation was found between the NO levels in the amniotic fluid compartment and UtAD (r = 0.432, p = .009 for PI). Therefore, a correlation of UtAD with amniotic fluid NO can be expected in pregnancies with a normal outcome. Impact Statement What is already known on this subject? Nitric oxide (NO) and vascular endothelial growth factor A (VEGF-A) are important vasoactive molecules that play significant roles in early angiogenesis and placentation. What the results of this study add? There is a positive correlation between the amniotic fluid NO levels and the uterine artery Doppler indices (UtADs) in the second trimester of pregnancies with normal outcomes. What the implications are of these findings for clinical practice and/or future research? A correlation between amniotic fluid NO levels and UtAD may indicate a normal trophoblastic invasion. Disturbance of this balance may be expected in certain adverse pregnancy outcomes. Additional studies are needed to further explore the molecular signs of early abnormal placentation and their clinical reflection.


Subject(s)
Amniotic Fluid/metabolism , Nitric Oxide/blood , Pregnancy Trimester, Second/blood , Uterine Artery/diagnostic imaging , Vascular Endothelial Growth Factor A/blood , Adult , Female , Humans , Pregnancy , Prospective Studies , Ultrasonography, Doppler , Ultrasonography, Prenatal
9.
J Matern Fetal Neonatal Med ; 30(22): 2653-2657, 2017 Nov.
Article in English | MEDLINE | ID: mdl-27838949

ABSTRACT

PURPOSE: Elevated sFlt-1 and sEng is usually a clue for impending preeclampsia and intrauterine growth restriction. Likewise, uterine artery Doppler ultrasound is being investigated for prediction of similar conditions. In this study, we aimed to explore the possible relations of these two proteins in different body compartments with uterine artery Doppler indices (UtAD) in a healthy second trimester obstetric population. METHODS: Levels of sFlt-1 and sEng were measured in serum and amniotic fluid samples of 43 patients. UtAD were measured on the days of sample collections. Findings were then analyzed for possible correlation. RESULTS: There was a positive correlation between the levels of maternal serum sFlt-1 (MSsFlt-1) and sEng levels (MSsEng) (r= 0.516, p< 0.001). The negative correlation between MSsFlt-1 and UtAD was disappeared after elimination of poor obstetric outcome pregnancies (r= -0.371, p= 0.016). No correlation was found between UtAD and studied protein levels in amniotic fluid. Mean MSsFlt-1 level was 305.2 ± 220.1 pg/ml and mean AFsFlt-1 was 48.9 ± 11.8 ng/ml. Mean MSsEng level was 4.5 ± 1.3 ng/ml, mean AFsEng level was found 0.7 ± 0.3 ng/ml. Mean values for UtAD were 1.3 ± 0.4, 0.6 ± 0.1 and 3.5 ± 1.3 for PI, RI, and S/D, respectively. CONCLUSION: In normal second trimester pregnancies, there is a positive correlation between serum levels of sFlt-1 and sEng levels. Amniotic fluid levels of sEng and sFlt-1 are not correlated with UtAD in uncomplicated pregnancies.


Subject(s)
Amniotic Fluid/metabolism , Angiogenesis Inhibitors/blood , Biomarkers , Uterine Artery/diagnostic imaging , Adult , Amniotic Fluid/chemistry , Angiogenesis Inhibitors/metabolism , Biomarkers/analysis , Biomarkers/blood , Biomarkers/metabolism , Blood Chemical Analysis , Cross-Sectional Studies , Endoglin/analysis , Endoglin/blood , Endoglin/metabolism , Female , Fetal Growth Retardation/diagnosis , Fetal Growth Retardation/metabolism , Fetal Growth Retardation/physiopathology , Health Status Indicators , Humans , Mothers , Pre-Eclampsia/diagnosis , Pre-Eclampsia/metabolism , Pre-Eclampsia/physiopathology , Pregnancy , Pregnancy Trimester, Second/metabolism , Pregnancy Trimester, Second/physiology , Ultrasonography, Doppler, Color , Ultrasonography, Prenatal , Uterine Artery/physiology , Vascular Endothelial Growth Factor Receptor-1/analysis , Vascular Endothelial Growth Factor Receptor-1/blood , Vascular Endothelial Growth Factor Receptor-1/metabolism , Young Adult
10.
J Matern Fetal Neonatal Med ; 29(12): 1957-62, 2016.
Article in English | MEDLINE | ID: mdl-26169712

ABSTRACT

OBJECTIVE: This study aimed to investigate maternal serum concentrations of s-Endoglin and compare s-Endoglin with other inflammatory markers in prediction of time to delivery, in pregnancies complicated by preterm premature rupture of membranes (PPROM). MATERIALS AND METHODS: Fifty five patients complicated by PPROM whose gestational age were between 2433 weeks and 44 matched healthy pregnant women were included in present study. Maternal concentrations of s-Endoglin concentrations were measured by an enzyme-linked immunosorbent assay (ELISA) and compared with maternal inflammatory markers including interleukin-6 (IL-6), white blood cell (WBC) count and serum C-reactive protein (CRP). The best variable for prediction of preterm birth was computed. RESULTS: Mean s-Endoglin levels in PPROM were lower than control groups (0.24 ± 0.12 pg/ml and 0.69 ± 0.25 pg/ml, respectively, p < 0.01). Besides IL-6 (p < 0.01), WBC (p = 0.016) and CRP (p = 0.010) levels were higher in PPROM group. In PPROM group, ROC analysis results of s-Endoglin for prediction of preterm delivery <48 h, <7 days, <32 weeks were not different (p > 0.05). For predicting preterm birth before 48 h and 7 days, only IL-6 at cut off value >0.70 (pg/ml) and >0.55 (pg/ml) had area under curve (AUC); 0.871 (0.7750.965), p < 0.01, AUC; 0.925 (0.8560.993), p < 0.001, respectively. CONCLUSION: s-Endoglin as an anti-angiogenic marker seemed to have a role in pathogenesis but results of present study showed that, unlike IL-6, it was unsatisfactory for estimating time to delivery in PPROM.


Subject(s)
C-Reactive Protein/metabolism , Endoglin/blood , Fetal Membranes, Premature Rupture/blood , Interleukin-6/blood , Adult , Biomarkers/blood , Case-Control Studies , Female , Humans , Leukocyte Count , Pregnancy , Prospective Studies , Young Adult
11.
Gynecol Endocrinol ; 31(12): 945-8, 2015.
Article in English | MEDLINE | ID: mdl-26172929

ABSTRACT

OBJECTIVE: Despite the absence of a complete physiologic-pathologic understanding, common accepted theory for development of preeclampsia is incomplete trophoblastic invasion leading to failed uterine and spiral arteriolar remodeling, causing maternal vascular endothelial dysfunction by secreted molecules in response to decreased placental perfusion, placental hypoxia, and ischemia. Placental angiogenesis is especially ineffective in early onset preeclampsia and fetal morbidity/mortality rates are higher because of further decreased blood flow. In this study, we aim to compare the maternal and umbilical cord blood levels of hypoxia-inducible transcription factor-1α (HIF-1α), which is believed to regulate hypoxia-related transcriptional responses, to play role in activating genes for initial phases of placental development and angiogenesis and a physiologic vasodilator molecule nitric oxide (NO) in normal, early and late onset preeclamptic pregnant women. METHODS: Pregnant women who were diagnosed with preeclampsia (early onset ≤34 weeks; late onset >34 weeks) and delivered in our clinic were enrolled for this prospective case-controlled study. Pregnant women without preeclampsia were recruited as control group. HIF-1α and NO levels in maternal and umbilical cord blood measured and compared among groups. FINDINGS: A total of 46 cases were enrolled for this study, including 25 preeclamptic (13 in the early onset group and 12 in the late onset group) and 21 normal pregnant women in the control group. Comparison of preeclampsia group to controls revealed higher maternal blood HIF-1α levels in the control group, however higher umbilical cord NO levels in the preeclampsia group (p < 0.05 and p < 0.001, respectively). In a second analysis, when compared to control group, both early and late onset preeclampsia subgroups were found to have higher umbilical cord blood NO levels (p < 0.001). RESULTS: In this study, we observed lower maternal blood HIF-1α levels and higher umbilical cord NO levels in preeclampsia group than controls. These findings suggest that umbilical cord blood NO levels in pregnant women with preeclampsia increase in response to hypoxia. However, lower HIF-1α levels in preeclampsia group can be due to our limited number of cases and we think that there is a need for further studies with larger sample size.


Subject(s)
Fetal Blood/chemistry , Hypoxia-Inducible Factor 1, alpha Subunit/blood , Nitric Oxide/blood , Pre-Eclampsia/blood , Case-Control Studies , Female , Gestational Age , Humans , Pregnancy , Prospective Studies
12.
Pan Afr Med J ; 22: 261, 2015.
Article in English | MEDLINE | ID: mdl-26958124

ABSTRACT

Each year, an estimated 529 000 maternal deaths occur worldwide. In literature, it is known that maternal mortality can occur during pregnancy, peripartum and also in postpartum period. Although very rare, maternal deaths may occur after spontaneous abortion. In present case, 37 year old G5P4 (Caesarean Section) women was admitted to Adnan Menderes University, Obstetrics and Gynecology clinic with diagnosis of missed abortion at 18 weeks' gestation. She had been hospitalized in the public maternity hospital for five days due to abortus incipience and prolapse of amnion membranes but had no contractions. Fetal heart beats ceased at the second day of hospitalization. Medically induced abortion was recommended but not accepted by the patient. At the fifth day of hospitalization, she was referred to our clinic due to deterioration of general health condition, low blood pressure and tachycardia. In emergency department, it was determined that she was not oriented, had confusion, had blood pressure of 49/25 mmHg and tachycardia. In ultrasonographic examination, 18 week in utero ex fetus was determined and there was free fluid in abdominopelvic cavity. The free fluid was suspected to be amniotic fluid due to rupture of uterus. Laparotomy was performed, no uterine rupture, hematoma or atony was observed. However during laparotomy, a very bad smelling odor, might be due to septicemia, was felt in the operation room. Cardiac arrest occurred during that operation. In autopsy report, it was concluded that maternal death was because of remaining of inutero ex fetus for a long time. In conclusion, although very rare, maternal deaths after spontaneous abortion may occur. Because spontaneous abortion is a common outcome of pregnancy, continued careful, strict monitoring and immediate treatment of especially second trimester spontaneous abortion is recommended to prevent related, disappointing, unexpected maternal deaths.


Subject(s)
Abortion, Spontaneous , Heart Arrest/etiology , Maternal Death/etiology , Adult , Female , Humans , Laparotomy/methods , Pregnancy , Pregnancy Trimester, Second , Time Factors
13.
Turk J Obstet Gynecol ; 12(1): 56-59, 2015 Mar.
Article in English | MEDLINE | ID: mdl-28913043

ABSTRACT

Wilson's disease (WD) is an autosomal recessive disorder. It is characterized by toxic accumulation of copper mainly in the liver and brain but also in cornea and kidney due to a defect in biliary excretion of copper. The hepatic manifestation of WD is diverse and may include asymptomatic elevation of aminotransferase, chronic hepatitis, cirrhosis, or acute/fulminant hepatic failure. Characteristic of acute hepatic failure in WD is concomitance of acute intravascular hemolytic anemia. Acute intravascular hemolytic anemia and thrombocytopenia in WD may be interpreted as a feature of Hemolysis, Elevated Liver Enzymes, Low Platelet Count (HELLP) syndrome besides acute liver failure. The differential diagnosis may be very difficult. Here, WD in pregnancy presenting with clinical symptoms of HELLP syndrome and developing acute liver failure in postpartum period is discussed.

14.
Mol Vis ; 14: 530-2, 2008 Mar 14.
Article in English | MEDLINE | ID: mdl-18385787

ABSTRACT

PURPOSE: To describe a Jewish family of Libyan ancestry in which autosomal dominant congenital cataract segregates with an apparently balanced reciprocal chromosomal translocation. METHODS: Detailed family history and clinical data were recorded. Cytogenetic studies were performed on 13 family members. RESULTS: Embryonal cataracts cosegregated through three generations with a balanced chromosomal translocation [t(3;5)(p22.3; p15.1)] while the unbalanced translocation product, 46,XY,-5,+der(5)t(3:5)(p22:p15.1), had multiple congenital anomalies without cataracts. CONCLUSIONS: These observations suggest that an altered function of a gene at one of the translocation breakpoints on chromosome 3p22.3 or 5p15.1 is causally related to cataract development.


Subject(s)
Cataract/congenital , Cataract/genetics , Chromosome Segregation , Genes, Dominant , Jews/genetics , Translocation, Genetic , Cataract/embryology , Chromosomes, Human, Pair 3 , Chromosomes, Human, Pair 5 , Humans , Infant, Newborn , Libya , Pedigree
15.
Respiration ; 71(1): 88-90, 2004.
Article in English | MEDLINE | ID: mdl-14872117

ABSTRACT

BACKGROUND: Lung cancer is the most frequent cause of death in both men and women. Smoking is the greatest risk factor for lung cancer and the relation of human papillomavirus (HPV) infection with lung cancer has been reported. HPV can be detected in small cell lung cancer samples with the methods like in situ hybridization, polymerase chain reaction (PCR), Southern blotting, dot blotting. OBJECTIVE: We aimed to detect and type HPV infection in non-small cell lung carcinoma tissue samples. METHODS: Tumor samples from 40 patients were collected during surgery and PCR and restriction fragment length polymorphism (RFLP) were used in order to detect HPV infection in the samples. RESULTS: Two HPV DNA were detected among 40 of the patients, revealing a low frequency of HPV in the samples. CONCLUSIONS: HPV can be regarded as an environmental factor in tumor development. There might be a relationship between HPV infection and some non-small cell lung cancers, especially in the smoking group.


Subject(s)
Carcinoma, Non-Small-Cell Lung/virology , Lung Neoplasms/virology , Papillomaviridae/isolation & purification , Papillomavirus Infections/diagnosis , Polymerase Chain Reaction/methods , Bacterial Typing Techniques , Carcinoma, Non-Small-Cell Lung/epidemiology , Carcinoma, Non-Small-Cell Lung/pathology , Comorbidity , Culture Techniques , DNA, Viral/analysis , Female , Humans , Lung Neoplasms/epidemiology , Lung Neoplasms/pathology , Male , Papillomavirus Infections/epidemiology , Polymorphism, Restriction Fragment Length , Prognosis , Sampling Studies , Sensitivity and Specificity
16.
Nephron ; 92(2): 463-5, 2002 Oct.
Article in English | MEDLINE | ID: mdl-12218332

ABSTRACT

Here we report on a patient with findings of acrocephaly, craniosynostosis, low frontal hairline, ptosis of eyelids, deviated nasal septum, broad great toes, moderate hallux valgus, bilateral symmetrical complete soft tissue syndactyly of toes 2 and 3, and partial soft tissue syndactyly of toes 4 and 5 consistent with the diagnosis of Saethre-Chotzen syndrome. Additionally, the patient had some unusual findings as part of generalized dysfunction of the renal tubules including hypophosphatemia with renal phosphate wasting, normocalcemic hypercalciuria, hypomagnesemia with renal magnesium wasting, low-molecular-weight proteinuria, decreased serum PTH levels, osteopenia, and nephrolithiasis. In the light of these findings, the diagnosis of incomplete renal Fanconi syndrome was made. In conclusion, on the basis of the present findings, it is difficult to say whether renal tubular dysfunction are somehow connected to the Saethre-Chotzen syndrome or not. Therefore, we consider that this is probably just a coincident. However, further studies may show the connection between renal tubular dysfunction and Saethre-Chotzen syndrome.


Subject(s)
Acrocephalosyndactylia/complications , Acrocephalosyndactylia/diagnosis , Fanconi Syndrome/complications , Fanconi Syndrome/diagnosis , Adult , Fanconi Syndrome/physiopathology , Humans , Male , Parathyroid Hormone/blood
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