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1.
Journal of Infection and Public Health. 2016; 9 (5): 600-610
in English | IMEMR | ID: emr-182095

ABSTRACT

Nosocomial urinary tract infection [UTI] increases hospitalization, cost and morbidity. In this cohort study, we aimed to determine the incidence, risk factors, etiology and outcomes of UTIs in post-operative cardiac children. To this end, we studied all post-operative patients admitted to the Pediatric Cardiac Intensive Care Unit [PCICU] in 2012, and we divided the patients into two groups: the UTI [UTI group] and the non-UTI [control group]. We compared both groups for multiple peri-operative risk factors. We included 413 children in this study. Of these, 29 [7%] had UTIs after cardiac surgery [UTI group], and 384 [93%] were free from UTIs [control group]. All UTI cases were catheter-associated UTIs [CAUTIs]. A total of 1578 urinary catheter days were assessed in this study, with a CAUTI density rate of 18 per 1000 catheter days. Multivariate logistic regression analysis demonstrated the following risk factors for CAUTI development: duration of urinary catheter placement [p < 0.001], presence of congenital abnormalities of kidney and urinary tract [CAKUT] [p < 0.0041] and the presence of certain syndromes [Down, William, and Noonan] [p < 0.02]. Gram-negative bacteria accounted for 63% of the CAUTI. The main causes of CAUTI were Klebsiella [27%], Candida [24%] and Escherichia coli [21%]. Resistant organisms caused 34% of CAUTI. Two patients [7%] died in the UTI group compared with the one patient [0.3%] who died in the control group [p < 0.05]. Based on these findings, we concluded that an increased duration of the urinary catheter, the presence of CAKUT, and the presence of syndromes comprised the main risk factors for CAUTI. Gram-negative organisms were the main causes for CAUTI, and one-third of them found to be resistant in this single-center study

2.
Heart Views. 2016; 17 (3): 83-87
in English | IMEMR | ID: emr-184337

ABSTRACT

Background and Aim: Aortic valve [AV] prolapse and subsequent aortic regurgitation [AR] are two complications of ventricular septal defects [VSD] that are located close to or in direct contact with the AV. This finding is one of the indications for surgical VSD closure even in the absence of symptoms to protect the AV integrity. The goal of our study was to assess the outcome and to identify the predictors for improvement or progression of AR after surgical repair


Materials and Methods: A retrospective study of all children with VSD and AV prolapse who underwent cardiac surgery at King Abdulaziz Cardiac Centre in Riyadh between July 1999 and August 2013


Results: A total of 41 consecutive patients, operated for VSD with prolapsed AV, with or without AR, were reviewed. The incidence of AV prolapse in the study population was 6.8% out of 655 patients with VSD. Thirty six [88%] patients had a perimembranous VSD, and four had doubly committed VSD. Only one patient had an outlet muscular VSD. Right coronary cusp prolapse was found in 38 [92.7%] patients. Preoperative AR was absent in five patients, mild or less in 25 patients, moderate in seven, and severe in four patients. Twenty six patients showed improvement in the degree of AR after surgery [Group A], 14 patients showed no change in the degree of AR [Group B] while only one patient showed the progression of his AR after surgery. Those with absent AR before surgery remained with no AR after surgery. Improvement was found more in those with mild degree of AR preoperatively compared to those with moderate and severe AR. Female gender also showed a tendency to improve more as compared to male


Conclusion: Early surgical closure is advisable for patients with VSD and associated AV prolapse to achieve a better outcome after repair and to prevent progression of AR in future

3.
Journal of the Saudi Heart Association. 2014; 26 (2): 87-92
in English | IMEMR | ID: emr-141947

ABSTRACT

Chylothorax is the accumulation of chyle in the pleural cavity, which usually develops after disruption of the thoracic duct along its intra-thoracic route. In the majority of cases, this rupture is secondary to trauma [including cardio thoracic surgeries]. Chylothorax is a potentially serious complication after cardiovascular surgeries that require early diagnosis and adequate management. This study aims to determine the risk factors and the impact of chylothorax on the early postoperative course after pediatric cardiac surgery. A retrospective study of all cases complicated with chylothorax after pediatric cardiac surgery was conducted at King Abdulaziz Cardiac Center between January 2007 and December 2009. There were 1135 cases operated on during the study period. Of these, 57 cases [5%] were complicated by chylothorax in the postoperative period. Thirty patients [54%] were males, while 27 [47%] were females. Ages ranged from 4 to 2759 days. The most common surgeries complicated by chylothorax were the single ventricle repair surgeries [15 cases, 27%]; arch repairs [10 cases, 18%]; ventricular septal defect repairs [10 cases, 18%]; atrioventricular septal defect repairs [7 cases, 12%]; arterial switch repair [6 cases, 11%], and others [8 cases, 14%]. The intensive care unit [ICU] and the length of hospital stays were significantly longer in the chylothorax group. Additionally, some early postoperative parameters such as incidence of sepsis, ventilation time, and inotropes duration and number were higher in the chylothorax group. Chylothorax after pediatric cardiac surgery is not a rare complication. It occurs more commonly with single ventricle repair and aortic arch repair surgeries, and has a significant impact on the postoperative course and post operative morbidity


Subject(s)
Humans , Female , Male , Postoperative Care , Treatment Outcome , Pediatrics , Cardiovascular Surgical Procedures , Risk Factors , Retrospective Studies
4.
International Journal of Environmental Research. 2013; 7 (3): 917-922
in English | IMEMR | ID: emr-130744

ABSTRACT

Mangrove sediments were collected during wet and dry seasons from nine stations in Khamir, Laft and natural reservoir mangrove-dense areas of Hormozgan province in the south of Iran. SIGMA PCBs ranged from 5.33 to 15.5 ng/g dry weight and the dominant congener was no.153. Average SIGMA DDTs for Khamir and Laft mangroves were 16.58 +/- 1.51 and 18.8 +/- 9.98 ng/g dry weight. DDT was more abundant than DDE and DDD isomers, which indicated the input of DDT. The sediment quality guideline shows that the concentration of SIGMA PCBs were below the ER-M guideline, whereas levels of SIGMA DDTs were between ER-L and ER-M. The mangrove ecosystem in Hormozgan province is suffering from urban and industrial development


Subject(s)
DDT , Geologic Sediments , Ecosystem
5.
Journal of the Saudi Heart Association. 2010; 22 (2): 55-59
in English | IMEMR | ID: emr-98888

ABSTRACT

Traditional use of trans-annular patch [TAP] to release right ventricular outflow tract [RVOT] obstruction during tetralogy of Fallot [TOF] repair may lead to a harmful pulmonary regurgitation. Different approaches have been used to release RVOT obstruction and spare the pulmonary valve [PV] function. In this study, we aim to evaluate the post-operative course of patients who had TOF repair in the current era that emphasizes on protective strategy of releasing RVOT obstruction and preserving PV function. A retrospective study of all TOF cases repaired in our institute between March 2002 and December 2007 was conducted. Cases were classified into two groups; group I included patients that had a TAP, while group II included cases that had simple TOF repair without TAP. Group I was subdivided into two groups, group [A] which include patients who had TAP without a valve. Group [B] includes those who had TAP with a monocuspid valve [Contegra]. We compared postoperative care and outcome of all groups. Eighty-three patients fulfilled the study criteria. There were 64 cases [77%] in group I, and 19 cases [23%] in group II. All children tolerated surgical repair and did well. We observed no statistically significant difference in the post-operative ICU care, complications rates and morbidity between all groups. There was no surgical mortality in all groups. Children undergoing TOP repair had excellent short-term outcome with the current protective strategy aiming to spare valvular function, and conserving myocardial function. Applying a monocuspid patch technique did not show clear short-term benefits. Long term follow up is needed to evaluate future difference in different techniques


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Treatment Outcome , Retrospective Studies
6.
Archives of Orofacial Sciences ; : 23-28, 2008.
Article in English | WPRIM | ID: wpr-627634

ABSTRACT

Root canal treatment (RCT) requires high level of technical skills of the dentist. Its outcome is an important part of evidencebased practice and become the basis of treatment planning and prognostic considerations. Adequate removal of micro-organisms and prevention of recolonization of residual micro-organisms through the placement of root filling with satisfactory coronal seal ensures success. This retrospective record review study aimed to investigate the practices of RCT in Hospital Universiti Sains Malaysia (HUSM) Dental Clinic, Kota Bharu, Kelantan. It involved 333 randomly selected patient records at the HUSM Record Unit. Data was obtained by careful analyses of daily treatment progress sheets and analyzed using SPSS version 12.0. A total of 2996 RCT cases were seen and 59.8% of patients were females. The age range of patients varied from 14 to 64 years. The maxillary anterior teeth were most commonly treated (52.6%). Most operators (99.1%) used step-back technique and 97.6% used files to prepare root canals. The most commonly used material for obturation and sealing was gutta-percha and epoxy resin-based sealer (AH26). About 82.9% used calcium hydroxide as intra-canal medication. About 25.5% of cases had no periapical pathology, 65.8% with pre-existing periapical radiolucencies healed in 1-3 months whereas 2.1% of cases with periapical pathology eventually healed after a year. About 6.9% cases failed after retreatment. The number of radiographs taken was two to four pieces. RCT is a useful intervention to maintain longevity of teeth. Decision making and current updates of methods and materials are essential among practitioners as well as administrators to ensure success.

7.
Egyptian Science Magazine [The]. 2008; 5 (1): 8-18
in English | IMEMR | ID: emr-100781

ABSTRACT

In this study, we have investigated the influence of P-glycoprotein blockers, namely verapamil and cyclosporine on the oral bioavailability of anticancer paclitaxel, aiming for increasing the oral bioavailability of paclitaxel with possibly reducing its side effect resulting from its parentral administration. The oral bioavailability of paclitaxel [10 mg/kg] in Swiss albino mice pretreated with either verapamil [20 mg/kg] and/or cyclosporine [50 mg/kg] was enhanced by 2.7 and 5.7 fold, respectively. This result may show that both drugs effectively inhibited the P-glycoprotein effhix pump activity in the intestinal tract, allowing for better absorption of paclitaxel. In this context art indirect index of P-glycoprotein efflux activity was used where a certain dye Rh-123 is transported by the membrane efflux P-glycoprotein pump in the same way as paclitaxel. The dye has a certain fluorescence which can be measured spectroflurometrically and its content in the intestinal tissue would reflect the amount absorbed as a result of P-glycoprotein inhibition. This study showed that Rh-123 was alike in the groups of control, i.p., and p.o. of paclitaxel. Pretreatment of oral paclitaxel with either cyclosporine an/or verapamil showed 2 and 1.4 times increase in Rh-123 level, respectively, indicating that cyclosporine was more effective than verapamil in inhibiting P-glycoprotein efflux pump activity. Paclitaxel itself had no effect on the leukocyte count but prior administration of either cyclosporine or verapamil significantly decreased the total number of white blood cells. Cyclosporine seemed to have a greater deleterious effect than verapamil. Both verapamil and cyclosporine given with oral paclitaxel also induced marked rise in the cardiac enzyme CK-MB but the effect was only transient and subsided after 48 hours, this has also been histopathologically confirmed. On the other hand, survival data of Ehrlich carcinoma bearing mice treated with pacliaiel indicated that both P-glycoprotein blockers did not adversely affect the antitumor activity of paclitaxel. Further work would certainly be needed for setting the benefit/risk ratio before the use of Pglycoprotein blockers can be advocated clinically


Subject(s)
Animals, Laboratory , Antineoplastic Agents, Phytogenic , ATP Binding Cassette Transporter, Subfamily B, Member 1 , Mice
8.
Egyptian Science Magazine [The]. 2008; 5 (1): 19-26
in English | IMEMR | ID: emr-100782

ABSTRACT

Nephrotoxicity is a dose-limiting factor in clinical use of cisplatin.This study aimed at investigating the protective role of two g1utamine[31n] doses against cisplaun-imlucecI nephrotoxictty in normal mice, and investigating their effect on the antitumor efficacy of ciplatin in mice bearing Ehrlich ascites carcinoma[EAC]. Experiment 1: 60 female albino mice were divided into 6 groups, 10 mice each. The first group received a single i.p. injection with normal saline and served as control. The second group received a single i.p.5 mg/kg body weigt cisplatin injection. The third and fourth groups received oral doses of glutamine 150 and 300mg/kg body weight respectively. The fifth and sixth groups received oral glutamine doses as the third and fourth groups one hour prior to Cs injection respectively. Animals were sacrified 7days after cisplatin injection, sera were collected and kidney were surgically removed and 10% homogenates were prepared for detection of creatinine level, malondialdehyde[MDA], reduced glutathione level[GSH], and glutathione peroxidase[GSH-Px].Experiment II for investigating antitumor efficacy, 60 mice bearing i.p. EAC, were treated as mentioned in experiment I The mean survival time was determined. Experiment III, the effect of such treatments on tumor growth delay was also assessed in 60 mice bearing s.c. EAC. Cisplatin injection alone induced a significant increase in serum creatinine, renal MDA, decrease of GSH levels and GSH-Px activity. Histological examination confirmed renal damage. Pretreatment with glutamine significantly attenuated the disturbance induced by cisplatin in creatinine, MDA, GSH levels, GSH-Px activity in a dose dependent manner. Glutamine in low and high dose reserved the improvement of the mean survival time induced by cisplatin. Moreover, pretreatment with glutamine high dose significantly improved the effect of cisplatin on tumor growth delay. These data suggest that glutamine may decrease the toxicity and oxidative stress of cisplatin, besides improving its antitumor efficacy


Subject(s)
Animals, Laboratory , Kidney/pathology , Histology , Oxidative Stress , Malondialdehyde , Glutathione Peroxidase , Kidney Function Tests , Protective Agents , Glutamine , Mice
9.
Bulletin of High Institute of Public Health [The]. 2005; 35 (3): 537-546
in English | IMEMR | ID: emr-70207

ABSTRACT

As outlined in the Newborn Screening Task Force report published in August 2000, the newborn screening system is more than the just testing, but also involves follow up, diagnosis, treatment, and evaluation. Newborn screening is aimed at early detection and intervention of treatable inborn errors of metabolism and also at establishing the incidence of these disorders. Specimens of dried blood spots were collected from infants born in Alexandria, attending 13 Health Offices in different Districts of Alexandria for BCG vaccination, and the tests were done in the Human Genetics Department, Medical Research Institute, Alexandria University. The total number screened was 3000 infants, of them; one [0.033%] infant had hyperphenylalaninemia, one [0.033%] infant had classic galactosemia and 11 [0.37%] infants had high level of thyroid stimulating hormone [TSH], on confirmatory test, 9 of them were found to be euthyroid


Subject(s)
Humans , Male , Female , Metabolism, Inborn Errors , Incidence , Galactosemias , Phenylalanine , Thyroid Function Tests
10.
Journal of the Egyptian Public Health Association [The]. 2004; 79 (1-2): 59-81
in English | IMEMR | ID: emr-66841

ABSTRACT

Maternal serum alpha fetoprotein [MSAFP] was introduced as a screening test for congenital malformations especially neural tube defects [NTDs] two decades ago. However, many factors were known to affect its level. From these are racial differences and maternal weight. The aim of the present work is to illustrate the normal distribution of MSAFP among working pregnant women in Alexandria in gestational age 16- 18 weeks, to identify some of its determinants, and to determine the specificity and sensitivity of MSAFP for the detection of congenital anomalies and adverse pregnancy outcome. A sample of 608 pregnant working women who were 16-18 week gestation was recruited for the study from the antenatal clinic affiliated to Gamal Abdel Nasser Health Insurance Hospital in Alexandria. The enrolled women were interviewed using a structured questionnaire and a blood sample was collected from each of them to measure the level of MSAFP. At the expected time of delivery, Gamal Abd el Nasser Health Insurance Hospital was visited to collect data about the outcome of pregnancy of the enrolled women. The median of MSAFP level for deliveries with no congenital anomalies were 25.5, 33.5, and 53.2 IU/ml, at gestational weeks 16, 17 and 18 respectively. The significant variables related positively to MSAFP level included abortion or stillbirth, congenital anomalies in the index pregnancy, gestational age, bleeding during pregnancy, gestational diabetes, twin pregnancy, consanguinity between maternal parents, history of congenital or genetic diseases in maternal family, and caesarian section deliveries. Fatigue score was negatively correlated to MSAFP level. Using MSAFP multiples of median [MOM], 42.9% of abortions and stillbirths, 57.1% of twin pregnancies, 31. 25% of preterm deliveries and 27.3% of low birth weight had levels of 3 MOM or more. One fourth of the congenital anomalies were below 0.5 MOM and 41.7% were at or above 3 MOM. The sensitivity of MSAFP test for the detection of NTDs [cutoff point 2.5+ MOM] or Down syndrome [cutoff point <0.5 MOM] among the study sample was 100% [Cl: 19.8-100%]. Specificity for NTDs was 92.7% [Cl: 90.3-94.6%], while the specificity for Down syndrome was 89.1% [86.3-91.4%]. The sensitivity for adverse pregnancy outcome [cutoff point <0.5 or 2.5+ MOM] was 41.6, and the specificity was 85.8%.In conclusion, the cutoff points of MSAFP of the study sample are different from those for other populations. Different factors affect the level of MSAFP including adverse pregnancy outcomes. It is recommended to introduce antenatal screening for congenital anomalies as a routine screening test during pregnancy using levels adapted from the local population for cutoff point determination


Subject(s)
Humans , Female , Pregnancy Trimester, Second/blood , Prevalence , Infant, Newborn, Diseases , Pregnancy Outcome , Gestational Age , Women , Fetus/abnormalities , Epidemiologic Studies
12.
EMHJ-Eastern Mediterranean Health Journal. 1999; 5 (2): 299-306
in English | IMEMR | ID: emr-156618

ABSTRACT

The study aimed to evaluate the role of nucleolus organizer region [NOR] heteromorphism as an etiological factor for parental nondisjunction in Down syndrome by comparing 25 patients affected by Down syndrome, and their parents with a control group of 80 non-affected Egyptians. All parents had normal karyotypes. The average modal number per parent of Ag-positive NORs was significantly higher in parents than controls. A significant difference in the size of the double-NOR variants [dNORs] was found. The mean maternal and paternal ages were significantly lower, with a significant increase in spontaneous abortions, for dNOR[+] couples compared with dNOR[-] couples


Subject(s)
Adult , Female , Humans , Infant , Male , Middle Aged , Abortion, Spontaneous/genetics , Case-Control Studies , Down Syndrome/genetics , Infant, Newborn , Karyotyping , Maternal Age , Nondisjunction, Genetic , Pedigree , Pregnancy
13.
Journal of the Egyptian Public Health Association [The]. 1998; 73 (1-2): 111-123
in English | IMEMR | ID: emr-48326

ABSTRACT

Current epidemiological data associates passive smoking with health hazards which not only affects the passive smoker but also affects the offsprings of passive smoker females. To determine the effect of cigarette smoke on the chromosomes of passive smoker females who were still in the childbearing age, the micronucleus [MN] frequency in 20 passive smoker females [spouse smoker] who had been exposed to cigarette smoke for at least 5 years was compared to the MN frequency in 20 control subjects [females with non-smoking spouse] all in the age group 31-39 years. The MN frequency among passive smoker female group ranged from 16-27 MN/500 cytokinesis blocked [CB] binucleated cell, with a mean of 21.1 +/- 3.7, while the MN frequency among the control group ranged from 3-11 MN/500 CB binucleated cell, with a mean of 8 +/- 1.7. The difference is statistically significant [t=14.2, p<0.01]. Applying the correlation coefficient test between age and MN frequency, a weak positive though non significant correlation was found between age and MN frequency in the passive smoker female group [R=0.11, p=0.630] while an intermediate positive but still non significant correlation was found between age and MN frequency in the control [R=0.26, p=0.27]. There was a positive correlation between the duration of exposure to cigarette smoke and the MN frequency, but this was statistically non significant [R=0.33, p=0.125]. The results emphasize that mothers especially in the childbearing age should not be exposed to cigarette smoke to avoid its deleterious effects on their health thus preventing any harmful effect the smoke can have on their offsprings


Subject(s)
Humans , Female , Chromosome Aberrations , Tobacco Use Disorder/pathology , Epidemiologic Methods
14.
EMHJ-Eastern Mediterranean Health Journal. 1998; 4 (2): 252-259
in English | IMEMR | ID: emr-156532

ABSTRACT

A total of 3000 consecutive neonates delivered in a maternity hospital in Giza, Egypt, were subjected to full clinical and genetic evaluation. Social data included parental consanguinity and social class. The prevalence of malformations in the 3000 hospital live births and stillbirths was 3.17%. Malformed neonates [95] were classified into 13 groups according to the system affected using World Health Organization classification of congenital malformations. The most common anomalies were: central nervous system [29.5%], musculoskeletal system [20.0%] and genetic syndromes [13.7%]. Parental consanguinity was found in 31.79% of all cases and in 55.0% of malformed cases, thus illustrating the deleterious effects of consanguinity


Subject(s)
Humans , Male , Female , Congenital Abnormalities/classification , Infant, Newborn , Social Class , Epidemiologic Methods , Methods
15.
EMHJ-Eastern Mediterranean Health Journal. 1998; 4 (3): 470-479
in English | IMEMR | ID: emr-156557

ABSTRACT

A total of 660 patients referred to the genetics clinic, Medical Research Institute, Alexandria were assessed to determine the frequency of genetic disorders and the proportion of autosomal recessive disorders. It was found that 298 [45.2%] patients had genetic disorders, 100 [33.6%] of whom had an autosomal recessive disorder; these included 32 patients with metabolic defects, 18 with haemoglobinopathies and 50 with syndromes and single defects. The frequency of consanguinity among parents of patients with autosomal recessive disorders was high [60%, with 48% first cousins]. The average inbreeding coefficient was higher [0.03] than that reported for the Egyptian population in general [0.01]


Subject(s)
Humans , Genetic Diseases, Inborn/epidemiology , Consanguinity , Health Surveys , Genetic Counseling , Hemoglobinopathies/epidemiology , Microcephaly/epidemiology
16.
Alexandria Journal of Pediatrics. 1998; 12 (1): 179-186
in English | IMEMR | ID: emr-47405

ABSTRACT

The study comprised 25 patients with Syndromic genetic hearing loss. They were selected from the Audiology Unit, Faculty of Medicine, and the Human Genetics clinic, Medical Research Institute, Alexandria University. Their ages ranged from 2.5 to 19 years. Males were more affected than females [M/F ratio = 2:1]. The high parental consanguinity [63.2%] emphasizes the contribution of autosomal recessive gene or multiple genes in the etiology of deafness. Thorough clinical examination, and complete investigation including metabolic screening tests, cytogenetic studies and other specific investigations, together with pedigree analysis were the main criteria for diagnosis. Fundus examination was essential as ocular involvement was found in association with most cases of genetic hearing loss. Results of the studied patients revealed that deafness was inherited either dominantly, recessively or in X-linked manner in association with other anomalies in the following syndromes: Down syndrome [one case, 4%], external ear malformation [4%], distal arthrogryposis [one case, 4%], Optic atrophy and ataxia [one case, 4%], Stickler-Wagner syndrome [one case, 4%], Usher syndrome [2 cases, 8%], Waardenburg syndrome types I and II [2 cases, 8%], Charcot-Marie-Tooth syndrome [2 cases, 8%], Alport syndrome [3 cases, 12%], Pendred syndrome [5 cases, 20%], and Hunter syndrome [3 cases, 12%]. For the idiopathic cases [2 cases, 8%], a possible genetic cause was also suggested, probably autosomal recessive


Subject(s)
Humans , Male , Female , Deafness/etiology , Hearing Disorders/genetics , Deafness/diagnosis
18.
Bulletin of High Institute of Public Health [The]. 1997; 27 (1): 123-30
in English | IMEMR | ID: emr-107186

ABSTRACT

To investigate the role of parental age and consanguinity on nondisjunction, 257 patients with numerical chromosome anomalies [NCA] were studied. For comparison, 514 phenotypically normal newborns were selected. The mean maternal age was significantly higher in the group with NCA than in the control group. The mean paternal age was significantly higher in the group with NCA than in the control group. The frequency of consanguineous marriages among parents of patients with NCA was also significantly higher than among parents of the control group. Thus, advanced maternal age and consanguinity were found to play an important role in the etiology of nondisjunction while the effect of advanced paternal age is probably of a minor value


Subject(s)
Humans , Male , Female , Paternal Age , Maternal Age , Consanguinity
19.
Journal of the Medical Research Institute-Alexandria University. 1997; 18 (4): 159-169
in English | IMEMR | ID: emr-136173

ABSTRACT

The study comprised 29 patients with features suggestive of phakomatoses refered to the Human Genetic Clinic, Medical Research Institute, and Dermatology Department, Faculty of Medicine, Alexandria University. All the patients were subjected to complete genetic history, pedigree analysis, clinical genetic, dermatological examinations, radiological investigations [X-ray, Ultrasonography and CT] and cytogenetic study in some patients. The result revealed that: 19 patients had neurofibromatosis [NF], 17 had NF I, one patient had Cafe au-lait type and the last one had segmental type. NF is the most common type of phakomatoses and is inherited as autosomal dominant. Eight patients had chromosomal instability syndromes [4 had xeroderma pigmentoza, 2 had De Sanctis Cacchione syndrome and 2 had ataxia telangiectasia]. Increased chromosomal breaks among these patients were detected by special technique. Chromosomal instability syndromes are inherited as autosomal recessive. The last 2 female patients were diagnosed as focal dermal hypoplasia syndrome [FDH] which is an X-linked dominant phakomatoses. In phakomatoses regular follow up examination and genetic counseling with emphasis on new symptoms are necessary to allow early intervention, detection of


Subject(s)
Humans , Male , Female , Pedigree , Cytogenetic Analysis , Consanguinity , Signs and Symptoms , Chromosome Aberrations , Genetic Counseling
20.
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