Pathogenesis of Photobacterium damselae subspecies infections in sea bass and sea bream.

Photobacterium damselae is a Gram negative bacterium causes photobacteriosis, a worldwide septicemic disease in aquaculture including sea bass (Dicentrarchus labrax) and sea bream (Sparus aurata). The pathogenicity of bacterial subspecies and the disease pathological changes in natural and experimental infections have thus far yielded inconsistency of effective preventive measures. This study aimed to represent a comprehensive analysis of the potential pathogenic capacities of the two subspecies of P. damselae in cultured sea bass and sea bream in the Northwestern region of Egypt. Diseased 321 sea bass and 257 sea bream, in addition to 99 healthy sea bass fingerlings were sampled from three farms located along the Mediterranean Sea. P. damselae subspecies were isolated from diseased fish and characterized using bacteriological, molecular, and antimicrobial susceptibility methods. Healthy fish were challenged by a virulent P. damselae subsp. piscicida, monitored for disease signs and mortality, and the histopathological abnormalities and hematological disorders were carried out. Clinical signs and gross lesions in naturally infected sea bass and sea bream showed great similarities with absence of a subspecies-specific characteristic sign or lesion. The two subspecies were recovered through the entire year from individual fish sample, suggests a coexistence of two subspecies endemic infection. In diseased sea bass, 38.32% and 16.20% were positive for P. damselae subsp. piscicida and subsp. damselae, respectively. However in diseased sea bream, 44.47% and 26.46% were positive for P. damselae subsp. piscicida and subsp. damselae, respectively. High mortalities and devastating clinicopathologic abnormalities represented by sever clinical signs, hematological disorders and histological abnormalities strengthen the pathogenicity of P. damselae subspecies in the two fish species and therefore, a vaccination strategy against both subspecies should be taken into account.

Differential associations of circulating peroxiredoxins levels with indicators of glycemic control in type 2 diabetes mellitus.

OBJECTIVES: Oxidative stress is an important patho-physiological mechanism in the development and complications of type 2 diabetes mellitus. To counteract oxidative stress the peroxiredoxin enzyme system exists in body cells. Whether diabetic state and/or glycemic control affects circulating levels of peroxiredoxins (PRDXs) needs to be elucidated. This study planned to assess PRDXs plasma levels of isoforms 1, 2, 4 and 6 in type 2 diabetes and their potential associations with glycemic control and insulin resistance. PATIENTS AND METHODS: Plasma/serum samples were obtained from type 2 diabetic patients (n=53, 28F/25M) and control non-diabetic subjects (n=25, 7F/18M). According to HbA1c diabetics were divided into well-controlled (HbA1c < 7, n=19) and poorly-controlled (HbA1c > 7, n=34). PRDXs isoforms and insulin were measured using ELISA. RESULTS: Compared to those of the control subjects, plasma levels of PRDXs1, 2, 4 and 6 were higher in diabetics. Poorly-controlled had lower levels of PRDXs2, 4 and 6 compared to well-controlled patients. PRDXs2 and 6 plasma levels negatively correlated with fasting blood sugar and HbA1c. No associations were detected with other isoforms and glycemic status or other parameters. CONCLUSIONS: The high levels of PRDXs in diabetes may suggest their chaperone function and their differential association with indicators of glycemic control may suggest their biomarker role and different mechanisms of action that warrants further investigations.

Determinants of severity of menopausal symptoms among Saudi women in Riyadh city.

OBJECTIVE: To determine the relationship between sociodemographic, reproductive and lifestyle factors and the severity of menopausal symptoms among Saudi women attending a university hospital in Riyadh city. METHODS: A cross-sectional survey was carried out during 2010 in Riyadh city. Women aged > 40 years attending or accompanying their relatives in outpatient clinics in King Khalid University Hospital were invited to participate in the study. The English version of the Menopause Rating Scale (MRS) was used to assess the severity of menopausal symptoms after translation and validation on a sample of 30 women. RESULTS: A total of 490 women were included. Severe urogenital symptoms were more common among housewives compared to working women (odds ratio (OR) 2.27, 95% confidence interval (CI) 1.12-4.68) and women living in apartments or small houses compared to women living in villas (OR 1.70, 95% CI 1.90-2.64). Nulliparous women had more severe somatic symptoms compared to those who had been pregnant (OR 2.83, 95% CI 1.10-7.69). Women who exercised regularly were less likely to experience severe somatic and urogenital symptoms (OR 0.57, 95% CI 0.37-0.86; OR 0.65, 95% CI 0.44-0.98, respectively). Obese women experienced more severe psychosomatic symptoms compared to those of normal body mass index (OR 2.01, 95% CI 0.96-4.93). CONCLUSION: Women who are housewives, living in apartments, not exercising regularly and obese are more likely to suffer from severe symptoms of menopause.

Primary male infertility in Kuwait: a cytogenetic and molecular study of 289 infertile Kuwaiti patients.

Infertility is one of the major public health problems, affecting 15% of couples who attempt pregnancy; in 50% of these, the male partner is responsible. Chromosomal abnormalities and Y microdeletions in the azoospermia factor (AZF) region are known to be associated with spermatogenetic failure. In the present study, 289 patients with primary male infertility because of spermatogenetic failure were studied in order to highlight the molecular background of male infertility in Kuwait, and to avoid the possibility of transmission of any microdeletions/chromosomal aberrations to offspring via intracytoplasmic sperm injection (ICSI). Of the 289 infertile men, 23 patients (8%) had chromosomal aberration in the form of Klinefelter syndrome/variant (16/23; 69.6%), XYY syndrome (3/23; 13%), XX male syndrome (2/23; 8.7%), 45,X/46X, i(Yp)(1/23; 4.4%) and 45,XY, t(9;22) (1/23;4.4%). Y-chromosome microdeletion in the AZFb and AZFc regions were detected in 7/266 cases (2.6%). Testicular biopsy was carried out in 31 azoospermic patients, of whom five men had Sertoli-cell only syndrome, while 26 patients had spermatogenic arrest. In conclusion, this study showed that the frequency of both chromosomal anomalies and Y microdeletions were found in 10.4% of the infertile men. The potential risk of transmitting these genetic disorders to offspring provides a rationale for screening infertile men prior to ICSI.

What do medical students in Alexandria know about female genital mutilation?

We explored the knowledge, beliefs and attitudes of 330 5th year medical students in Alexandria University towards female genital mutilation (FGM). The students' basic knowledge about the practice of FGM was unsatisfactory. Students were unaware of the prevalence of FGM in Egypt and the practices and procedures of FGM. They were also poorly informed about the complications of FGM, and the ethical and legal aspects of FGM in the country. As a result, 52.0% of the students supported the continuation of the practice and 73.2% were in favour of its "medicalization" as a strategy for reducing the risks of FGM. Most students (86.9%) thought that the issue of FGM should be incorporated into the undergraduate medical curriculum.

What do medical students in Alexandria know about female genital mutilation?

We explored the knowledge, beliefs and attitudes of 330 5th year medical students in Alexandria University towards female genital mutilation [FGM]. The students' basic knowledge about the practice of FGM was unsatisfactory. Students were unaware of the prevalence of FGM in Egypt and the practices and procedures of FGM. They were also poorly informed about the complications of FGM, and the ethical and legal aspects of FGM in the country. As a result, 52.0% of the students supported the continuation of the practice and 73.2% were in favour of its "medicalization" as a strategy for reducing the risks of FGM. Most students [86.9%] thought that the issue of FGM should be incorporated into the undergraduate medical curriculum

A morpho-etiological description of congenital limb anomalies.

BACKGROUND: Limb anomalies rank behind congenital heart disease as the most common birth defects observed in infants. More than 50 classifications for limb anomalies based on morphology and osseous anatomy have been drafted over the past 150 years. The present work aims to provide a concise summary of the most common congenital limb anomalies on a morpho-etiological basis. PATIENTS AND METHODS: In a retrospective study, 70 newborns with anomalies of the upper and/or lower limbs were ascertained through clinical examination, chromosomal analysis, skeletal surveys and other relevant investigations. RESULTS: Fetal causes of limb anomalies represented 55.8% of the cases in the form of 9 cases (12.9%) with chromosomal aberrations (trisomy 13, 18 and 21, duplication 13q and deletion 22q) and 30 cases (42.9%) with single gene disorders. An environmental etiology for limb anomalies was diagnosed in 11 cases (15.7%) as amniotic band disruption, monozygotic twin with abnormal circulation, vascular disruption (Poland sequence, sirenomelia and general vascular disruption) and an infant with a diabetic mother. Twenty cases (28.5%) had limb anomalies as part of sporadic syndromes of unknown etiology. CONCLUSIONS: The morpho-etiological work-up of limb anomalies adopted in the present study is valuable for detecting the cause of the anomaly and is crucial for its prevention. Prevention can be achieved by proper genetic counseling, which includes recurrence risk estimation and prenatal diagnosis.

Sex identification of normal persons and sex reverse cases from bloodstains using FISH and PCR.

UNLABELLED: Sex identification of dry blood is of crucial importance in forensic medicine. SUBJECTS AND METHODS: Sixty normal (with matching phenotypic and genotypic sex) persons (36 males and 24 females), and 7 cases of sex reverse, i.e., persons with one genotypic sex and ambiguous or external genitalia of the opposite sex (3 phenotypic females with Swyer syndrome and the 46,XY karyotype, and 4 phenotypic Klinefelter-like males with the 46,XX karyotype) were subjected to sex identification by FISH and PCR using bloodstains. RESULTS: The FISH technique using an X/Y cocktail probe (DXZI & DYZI, Oncor) has identified the sex correctly in 91.69% of interphase nuclei of the 36 males of the study, and in 92.29% of cells of the 24 females and incorrectly identified the 3 phenotypic females with Swyer syndrome as males and the 4 Klinefelter-like males as females. The 60 normal individuals in the study were correctly typed to their phenotypic sex by the 2 PCR methods used, i.e., the single PCR using the amelogenin sequence specific for the X and Y chromosomes and the multiplex PCR using SRY gene (male-specific) and the AR gene (X-specific). Out of the 7 sex reverse cases, one Klinefelter-like male was incorrectly identified by PCR as female due to the absence of amplification of the SRY gene and the amelogenin male-specific 788 bp fragment. CONCLUSION: The present study demonstrates that both FISH and PCR techniques are fast, easy to perform, reliable and efficient for sex identification but PCR is more accurate. It also emphasises that the sex identified is the genotypic sex which does not necessarily correspond to the phenotypic one and if evidences at the scene of crime indicate opposite sex of the accused, persons with sex reverse have to be ruled out using different X- and Y-specific probes and PCR.

Developmental toxicity of acephate by gavage in mice.

Acephate (O,S - dimethyl acetyl phosphoramidothioate), an organophosphate insecticide, was evaluated for its potential to produce developmental toxicity in mice after oral administration. Pregnant ICR (CD-1) mice were given sublethal doses of 0 (distilled water), 7, 14, and 28 mg/kg/day acephate by gavage on Gestation Days 6 through 15. Maternal effects in the 28 mg/kg/day dose group included cholinergic signs, decreased body weight at 15 and 18 days of gestation, and decreased absolute and relative brain weight. Placental weight was also decreased and liver weight was increased in the high dose group. Absolute and relative brain weight was decreased in the 14 mg/kg/day group. No maternal effects were apparent in the 7 mg/kg/day dose group. Maternal exposure to acephate during organogenesis significantly affected the number of implantations, number of live fetuses, number of early resorptions, mean fetal weight, and the incidence of external and skeletal malformations in the 28 mg/kg/day dose group. No visceral malformations were observed. On the basis of the present results acephate showed maternal and developmental toxicity at 28 mg/kg/day.

Trisomy 18 in Kuwait.

BACKGROUND: Trisomy 18 (Edwards' syndrome, T18) is the second most common trisomy in man. We describe 118 children with regular T18 who were ascertained clinically and cytogenetically in the Kuwait Medical Genetics Centre during 1980-1997. METHODS: Ascertainment of T18 cases was performed shortly after birth. Chromosomal studies were carried out in addition to other relevant investigations. To investigate the factors associated with T18, a case-control study was carried out with 131 normal healthy newborns. Studied factors included maternal and paternal age, birth order, abortion, associated malformation, and survival. Multiple logistic regression analysis was used to adjust for confounding between variables. RESULTS: There was a preponderance of females among T18 cases (female:male ratio 2.1:1). The majority of T18 cases (53%) died before the second week of life. The most common associated anomalies were: congenital heart (38.1%) and gastrointestinal (25.4%). Multiplicity of malformations was also observed. Significant seasonal variation in T18 cases was detected with a peak in spring. Of the 118 T18 cases, 59 were delivered during 1994-1997 (average overall T18 birth prevalence rate 8.95 per 10 000 live births [95% CI: 6.66-11.23]). Concerning maternal age, 30.5% of the T18 cases' mothers were > or =35 years compared to 10.7% in the control group. The difference was statistically significant, P = 0.002. Logistic regression analysis showed that maternal age >30 years was a significant risk factor for T18, after adjusting for confounding with paternal age. Paternal age and abortion were not found to be significant risk factors. CONCLUSION: Trisomy 18 birth prevalence rate is high in Kuwait with advanced maternal age as a significant risk factor.

PIP: This paper describes associated factors of trisomy 18 (T18) or Edwards' syndrome among infants in Kuwait. A case control study of 131 normal newborn controls was undertaken. The study included information about gender, maternal age, paternal age, birth order, reproductive history, consanguinity, survival, and associated anomalies. Results showed a preponderance of females among T18 cases (female/male ratio, 2.1:1). The difference between the T18-case mothers and the control-group mothers was statistically significant (P = 0.002); however, there was no significant difference with regard to paternal age. The logistic regression analysis showed that the odds ratio for 2 abortions with reference to (0/1) abortion was 1.086, which is statistically significant as a risk for T18. The majority of children with T18 died before the second week of life. With regard to malformations, the most common associated anomalies were congenital heart and gastrointestinal abnormalities. Thus, the prevalence of T18 is high in Kuwait, with advanced maternal age as a significant risk factor.

Mosaic Turner syndrome: cytogenetics versus FISH.

Twenty-two cases with Turner syndrome features were subjected to standard cytogenetic techniques using giemsa trypsin (GTG-) banding then fluorescence in situ hybridization (FISH) using a specific whole-X chromosome painting probe, Quint-Essential Y-specific DNA probe (AMELY) for Yp11.2, alpha-satellite (DYZ3) probe and X/Y cocktail-alpha satellite probe (ONCOR) for confirmation of the initial diagnosis and comparison of the two techniques. Eight cases (36%) showed the same karyotype results by both techniques [5 cases: 45,X/46,XX, 2 cases: 45,X/46,X,i(Xq) and one case with a triple cell line 45,X/46,XX/47,XXX]. In the other 14 cases (64%) the FISH technique has identified a third cell line in 7 cases (32%), delineated the origin of the marker in 5 cases (23%) to be derivative X and clarified the deletion of the Yp11.2 region in 2 cases (9%) with the 45,X/46,XY karyotype. The application of FISH has highlighted the differences between the initial diagnosis based on the standard cytogenetic technique and the final diagnosis determined by the application of DNA probes specific for the X and Y chromosomes. FISH proved useful in detection of the low frequency cell lines which need analysis of a large number of metaphase spreads by GTG-banding, helped in identifying the nature and the origin of the unknown markers which has an important implication in the development of gonadal tumours and delineated the deletion of the Yp11.2 region in the 45,X/46,XY Turner patients.

Clustering of trisomy 18 in Kuwait: Genetic predisposition or environmental?

BACKGROUND: This study describes 59 newborns with regular trisomy 18 (EdwardsA centAA syndrome, T18) who were ascertained clinically and cytogenetically at the Kuwait Medical Genetic Centre from 1994 to 1997, out of 118 T18 cases identified from 1980 to 1997. MATERIALS AND METHODS: T18 cases were ascertained clinically and cytogenetically shortly after birth. In addition to assessing the T18 birth prevalence rate and confidence limits during the years 1994-1997, we investigated the possible etiological factors by a case-control study with normal healthy newborns. Studied factors included gender, parental age, birth order, abortion, clinical variables (presentation, amniotic fluid and mode of delivery), and survival. RESULTS: The average T18 birth prevalence rate during the period was 8.95 per 10,000 live births (95% confidence limits 6.66-11.23). The T18 cases were mostly females, with a male:female ratio of 1:2.1, and the majority (53%) died before the second week of life. Maternal age above 30 years was found to be a significant factor for T18. CONCLUSION: This high T18 birth prevalence rate suggests clustering of T18 in the highly inbred population of Kuwait. Such clustering may indicate a possible environmental, and to a lesser extent, genetic predisposition to aneuploidy nondisjunction.

Triophthalmia and facial clefting: a case report.

We describe a Libyan boy with an unusual phenotype of multiple congenital anomalies, including triophthalmia, dolichocephaly, porencephaly, cleft lip/palate, facial asymmetry, micrognathia, and VSD. The reported phenotype is likely to represent a new entity of non-chromosomal syndromic triophthalmia. Other possibilities are discussed.

Marfanoid children. Etiologic heterogeneity and cardiac findings.

The clinical, cardiac, and echocardiographic test results of 20 children with marfanoid features are reviewed. Fifteen were diagnosed as having Marfan syndrome, two had "possible" Marfan syndrome, and three had other diagnoses. On first evaluation, eight patients with Marfan syndrome (53%) had mitral regurgitation and none had aortic regurgitation. Echocardiography showed aortic root enlargement in 12 (80%) of 15 patients and mitral valve prolapse in 12 (80%) of 15. None had a normal echocardiogram. At follow-up examination, one patient had developed aortic root enlargement, and one patient, mitral valve prolapse. Thus, although aortic root enlargement is usually present in early childhood in patients with Marfan syndrome, it is not considered specific because in this study it also occurred in one child with Alport's syndrome and in one with marfanoid features. Four patients with aortic root enlargement were treated with propranolol and their echocardiograms showed no further increase in the aortic root diameter for several years. We recommend echocardiography in the diagnosis and routine management of children in whom Marfan syndrome is suspected.

The detection of IgE by radio allergosorbent technique (R.A.S.T.) and ELISA in Egyptian cases of schistosomiasis.

Studies were carried out on the radioallergosorbent test (R.A.S.T.) in comparison with the Elisa for the diagnosis of schistosomiasis. Using sera from known S. mansoni, S. haematobium and both S. mansoni and S. haematobium cases, R.A.S.T. showed high sensitivity; 72%, 55% and 75% respectively, in the detection and quantification of specific IgE antibodies. While in case of ELISA only 20% of patients were positive. With control sera, both tests showed 100% negative. It is concluded that R.A.S.T. is more specific and superior than ELISA for IgE detection in schistosomiasis.

New trends in the sero-diagnosis of schistosomiasis in Egypt.

A comparison has been made of a newly modified diffusion-in-gel enzyme-linked immunosorbent technique (DIG-ELISA) and an established, standardized ELISA, using sera as well as whole blood adsorbed on filter paper discs. With known human cases of S. mansoni and/or S. haematobium, both tests showed great sensitivity in the diagnosis of schistosomiasis; 93%-95% positive for ELISA and 92%-93% positive by DIG-ELISA on using egg antigens, while 92% positive for ELISA and 91% positive by DIG-ELISA when worm antigens were used. DIG-ELISA is characterised by its technical simplicity, high sensitivity which make it an excellent screening serological technique especially in endemic areas. Moreover, the use of whole blood on filter paper discs (paper disc DIG-ELISA), rather than serum from venipuncture should add more advantages for its field application.

A case of de novo trisomy 12p syndrome.

A case of pure 12p trisomy was discovered in a 14-year-old boy during a cytogenetic survey of Egyptian students attending a school for mentally retarded children. The patient had a normal birth weight but later showed developmental delay. Clinical examination at 14 years of age revealed a high bulging forehead, broad and flat nasal bridge, large mouth with everted lower lip, folded upper ear helix with protuberant antihelix, pectus excavatum, undescended testes, flat feet, generalized hypotonia and moderate mental retardation. Chromosomes analyzed from blood lymphocytes showed an enlarged short arm with an additional band on one of the no. 12 chromosomes. The duplicated chromosomal material extended from 12pter----p12.2, including the LDH-B locus, which showed a gene-dosage effect. This extra chromosomal material arose de novo by tandem duplication. The parents' chromosomes were normal.

Deletion 9p, duplication 18q in two sisters resulting from a maternal (9;18) (p22;q21.3) translocation.

We have studied two sisters with partial deletion 9p and partial duplication 18q resulting from adjacent 1 segregation of a maternal translocation (9;18) (p22;q21.3). The clinical manifestations identified in our patients were compared with those reported in the literature for 9p- and 18q+ patients involving approximately the same amount of genetic material. There was relatively greater similarity with the 9p- syndrome than with dup (18q) syndrome, but typical characteristics of both conditions were lacking.