Clinical and molecular findings in eight Egyptian patients with suspected mitochondrial disorders and optic atrophy

Mitochondrial respiratory chain disorders [RCD] are a group of genetically and clinically heterogeneous diseases, caused due to defects of the respiratory chain. This study aimed to investigate the presence of common mtDNA point mutations in tRNALeu [UUR], tRNALys, MT-ATPase 6, MT-ND4, MT-ND1, MT-ND6 genes in eight Egyptian patients suspected to have mtDNA disease and optic atrophy. PCR-RFLP analysis was done for the detection of 3243A > G, 327IT > C, 8344A > G, and 8993T > G/C mtDNA point mutations. DNA direct sequencing was pursued for the detection of 11778G > A, 3460G > A and 14484T > C mtDNA point mutations. No point mutation of 3243A > G, 327IT > C, 8344A > G, and 8993T > G/C was detected in our group of patients. Four mtDNA polymorphisms in MT-ND1 and MT-ND4 genes [11467A > G, 11719G > A, 3348A > G and 3357G > A] were detected in three patients. Mitochondrial disorders are caused by a variety of genetic and racial factors, which differ among populations. The negative results of this study indicate that the chosen mutations might not be specific in Egyptians. Another explanation might be due to the low heteroplasmic levels of the mtDNA mutation. A registry for the different mtDNA mutations in Egyptian patients is highly recommended

Influence of humic acid on nile tilapia exposed to cadmium pollution

The effect of humic acid on cadmium [Cd] toxicity to Nile tilapia and the impact on fish immunological, hematological changes in Nile tilapia [Oreochromius niloticus] were studied. The fish [120 +/- 10g] were exposed to 10 ppm Cd alone or with 0.2, 0.3 and 0.4 g humic acid /I ppm for 15 and 45 days. Cd exposure reduced significantly [P<0.04] such as erythrocyte count [RBCs], haemoglobin content [Hb], haematocrit value [Hct], mean cell haemoglobin [MCH] and mean cell haemoglobin concentration. These parameters were improved when humic acid was applied with Cd. The values of RBCs, Hb, Hct, MCH and MCHC were increased significantly to be as in the control fish group. Addition of humic acid to Cd contaminated medium considerably reduced metal absorption and accumulation in fish tissues, while it was increased metals in water and feces. Fish exposed to Cd alone accumulates 2.15 and 5.970 mg Cd/g dry weight in liver tissue for 15 and 45 days respectively. Cd reduced significantly to 1.292 and 4.16.; 0.92 and 3.791; and 0.41 and 2.43 mg Cd/g dry weight tissue in fishes exposed to 0.2, 0.3 and 0.4g humic acid /I for 15 ; and 45 days, respectively. Similar trends were observed in gills and musculature

Characterization of bioflocculants produced by bacteria isolated from crude petroleum oil

The aim of this study was to look for high efficient bioflocculant-producing microorganisms. Among 36 bacterial colonies isolated from a crude petroleum oil sample, three of them CPO8, CPO13 and CPO14 exhibited flocculation activity exceeding 90% after 3 days of cultivation. They were identified by 16S rDNA sequence analysis as Bacillus subtilis [CPO8, CPO13] and Pseudomonas sp. [CPO14]. Spectroscopic analysis of the polymers by nuclear magnetic resonance [1H NMR] and Fourier-transform infrared [FT-IR] revealed that the polymers were glycoproteins. These polymers were soluble in water and insoluble in any organic solvents tested. The effects of bioflocculant dosage, temperature, and pH on the flocculation activity were evaluated. The maximum bioflocculation activities were observed at an optimum bioflocculant dosage of 3.5 mg/l [strains CPO8 and CPO13] and 5.0 mg/l [strain CPO14], respectively. In addition, these biopolymers were able to flocculate kaolin suspension [5 g/l] over a wide range of pH [pH 3-9] and temperature [5-50 °C] tested in the presence of CaCl2. The highest flocculation activities of strains CPO8, CPO13 and CPO14 were 96.03%, 92.17% and 97.59%, respectively in the early stationary phase [at 24 h], while the cell production reach its maximum in the stationary phase [at 72 h]. Their efficient flocculation capabilities suggest potential applications in industries

Isolation and molecular characterization of some copper biosorped strains

TThe biosorption of copper [II] from aqueous solution using different bacterial strains was studied. Copper-biosorbing bacteria were isolated from tannery effluent collected from Borg Al-Arab, Alexandria, Egypt. These isolates displayed different degrees of copper biosorption under aerobic conditions. Based on 16S rDNA gene sequence analysis, three of them [S2, S5 and S7] were identified as Chryseobacterium sp., Enterobacter sp. and Stenotrophomonas sp., respectively. Initial copper [II] ion concentrations from 25-250 mg/L at constant temperature 30°C were studied. The residual copper [II] concentration and its toxicity effect in solution were determined using atomic absorption spectrophotometer and bioluminescent bioreporter. The bioluminescence inhibition of strain [S5] reached to 91.4% as compared with the strain [S7] reached to 83.3% at 225 mg/L of copper ion where the maximum biosorption efficiency for S5 and S7 were 71% and 70.1% correspondingly using atomic absorption. The biolumi-nescent bioreporter was proved to be fast and accurate technique for measurement the toxicity effect of residual copper [II] in solution

Developmental abnormalities of mid and hindbrain: a study of 23 Egyptian patients

With the advent of neuroimaging modalities specifically, magnetic resonance imaging [MRI], recognition of developmental defects of posterior fossa has greatly improved. Is to delineate the clinical, cytogenetics and radiological features of patients with midhindbrain anomalies. Twenty-three patients with mid-hind brain malformations were included in this study. Complete clinical evaluation, cytogenetic analysis and neuroradiological study were done for each patient. Patients' sex ratio was [M: F/ 0.9:1] and the mean age was 2.17 years. Parental consanguinity was 86.9% and positive family history was recorded in 7 families. Based on clinico-radiological findings, patients were categorized as Joubert syndrome and related cerebellar disorders [34.8%], pontocerebellar hypoplasia [26.1%], lissencephaly cerebellar hypoplasia [13%], isolated cobblestone lissencephaly with normal muscle and eye [8.7%], isolated vermian hypoplasia [13%] and retrocerebellar cyst [4.4%]. Cytogenetic analysis revealed abnormalities in 3 patients [13%]; pericentric inversion of chromosome 8 in a patient with lissencephaly cerebellar hypoplasia, del 5p14.3-pter delineating Cri du chat syndrome and associated with vermian hypoplasia and del 18q21.1-qter in a patient with retrocerebellar cyst due to paternal balanced translocation t [4;18]. FISH for specific locus and whole chromosomal painting were used to document the assigned aberrations. Although most of the cerebellar malformations are of Mendelian inheritance, this study emphasizes the importance of chromosomal analysis for patients with posterior fossa anomalies. With more researches describing clinico-radiological characterization of hind brain dysgenesis will allow better understanding of these disorders, further delineation of relevant syndromes and new genes identification

Incidence of some enterotoxigenic food poisoning microorganisms in chicken meat products

Forty - five packaged random samples of cooked and half cooked chicken meat products represented by chicken shawarma, fillet and wings [15 for each] were collected from different retail markets in Cairo and Giza. The incidence of S. aureus, E. coli and C. perfringens in fillet was 26.66%, 20%, 26.66%, respectively, while equals 0.0%, 13.33%, 20%, in shawarma, respectively. The incidence in wings reaches to 13.33%, 20%, 6.66%, respectively. Six number of S. aureus strains were isolated from fillet and wings examined for enterotoxin production and revealed that only one strain isolated from wings had the ability to produce enterotoxin types A, B, C and D [multiproducer]. While S.aureus failed to be isolated from shawarma. Concerning C. perfringens 5 toxigenic strains classified as 3 C. perfringens type A and 2 C. perfringens type D, while 3 strains were non- toxigenic. For E. coli the serological typing revealed 8 untypable strains which were not enterotoxigenic

Biosynthesis of biodegradable polyhydroxyalkanotes biopolymers in genetically modified yeasts

In the recent decade, biosynthesis of the degradable biopolymers polyhydroxyalkanotes in transgenic yeasts became an important research task. Most research strategies depend on either metabolic engineering or molecular approaches. In the present work, research compared PHA biosynthesis in two types of yeasts; Saccharomyces cerevisiae and a non-convenient Kloeckera spp. Yeast strains were equipped in their cytoplasm with thephaABCRe operon containing genes phbA, phbB and phbC of the PHA biosynthetic pathway of Ralstonia eutropha, which encode p-ketothiolase, NADPH-linked acetoacetyl-CoA reductase and PHA synthase, respectively. The transgenic strains Saccharomyces cerevisiae and Kloeckera sp. were able to produce PHA. The maximum content of the polymer detected in the recombinant strain INVScl/PHAl was 2.68% and only poly-3-hydroxybutyrate [PHB] accumulated. However, the non-conventional transgenic strain KY1/PHA was able to accumulate as maximum of 7.06% of the copolymer poly-[3-hydroxybutyrate-co-poly-3-hydroxyvalerate[[PHV]. Western blot analysis confirmed expression of the phaABC[RE] operon in the transgenic yeast strains. The nature of the PHA thus produced by all tested strains was analyzed by [1]H and [13]C nuclear magnetic resonance [NMR] spectroscopy

Maternal balanced translocation [4;21] leading to an offspring with partial duplication of 4q and 21 q without phenotypic manifestations of down syndrome

We describe an 8-year old female with supernumerary chromosome der[21]t[4;21][q25;q22] resulting in partial trisomy 4q25-qter and partial trisomy 21[pter-q22]. The extra material was originated from a reciprocal balanced translocation carrier mother [4q;21q]. Karyotyping was confirmed by FISH using whole chromosome painting probes for 4 and 21q and using 21q22.13-q22.2 specific probe to rule out trisomy of Down syndrome critical region. Phenotypic and cytogenetic findings were compared with previously published cases of partial trisomy 4q and 21 q. Our patient had the major criteria of distal trisomy 4q namely severe psychomotor retardation, growth retardation, microcephaly, hearing impairment, specific facies [broad nasal root, hypertelorism, ptosis, narrow palpebral fissures, long eye lashes, long philtrum, carp like mouth and malformed ears] and thumbs and minor feet anomalies. In spite of detection of most of the 3 copies of chromosome 21, specific features of Down syndrome [DS] were lacked in this patient, except for notable bilateral symmetrical calcification of basal ganglia. This report represents further delineation of the phenotype-genotype correlation of trisomy 4q syndrome. It also supports that DS phenotype is closely linked to 21q22. Nevertheless, presence of basal ganglia calcification in this patient may point out to a more proximal region contributing in its development in DS, or that genes outside the critical region may influence or control manifestations of DS features

C677T polymorphism of the 5,10-Methylenetetra-hydrofolate reductase [MTHFR] gene as a risk factor for neural tube defects among Egyptian families

Methylenetetrahydrofolate reductase [MTHFR] deficiency leads to impairment in folate metabolism and is implicated as a risk factor for neural tube defects [NTDs]. C677T MTHFR polymorphism is associated with NTDs, in some populations. Although the prevalence of this mutation has been reported from various ethnic populations, no data concerning Egyptian are available. C677T polymorphism was analyzed by PCR-RFLP. The frequencies of the C677T MTHFR polymorphism was determined in 35 case mothers, 19 case fathers and 9 children with NTDs compared with healthy 30 matched controls. In addition, allele and genotype frequencies were classified into different groups according to offspring NTD phenotype, consanguinity of the parents and number of affected offspring with NTD and or abortion. The prevalence of the polymorphic, homozygous [T/T] and heterozygous [C/T] C677T MTHFR genotypes were 6.3% and 38.1%, respectively, giving an allele frequency of 0.25. We observed increased frequency of heterozygotes of MTHFR in NTDs mothers versus the control although, C677T allele frequency was 0.28 in controls. Consanguinity rate was 45.7% among our families but it seems unlikely that it had an additional effect on the heterozygosity of the mutant genotype in this sample. In conclusion, neither homozygosity nor heterozygosity for the C677T polymorphism in the MTHFR gene constitute a genetic risk factor in the total NTDs but could be a risk of spina bifida aperta in this sample of Egyptian families. It is noteworthy to mention that this is the first report from Egypt evaluating the relationship between MTHFR677C>T and NTD

Coagulation profile in patients with liver cirrhosis: thrombosis versus bleeding

A variety of haemostatic abnormalities occur in patients with liver disease and, in general, the severity of these abnormalities reflects the degree of hepatic dysfunction. Aims of the study: 1- To study the haemostatic parameters among patients with liver cirrhosis. 2- To characterize the haemostatic differences among patients with liver cirrhosis and thrombosis and those with bleeding. Patients, Materials and This study included 36 patients with liver cirrhosis of various stages who were selected among those admitted to the department of Tropical Medicine and Gastroenterology. In addition 15 apparently healthy persons were selected as a control group. They were diagnosed as liver cirrhosis according to clinical, laboratory and ultrasonographic criteria. All the patients and control were subjected to the followings: history taking and clinical examination, abdominal ultrasonography and coloured - Doppler ultrasonography, laboratory investigations including: blood count, liver function tests, haemostatic parameters including: prothrombin time and concentration, activated partial thromboplastin time [aPTT], antithrombin III [AT III], fibrinogen, protein S and protein C, D- dimer, platelet aggregation tests. The patients were classified into three groups: Group I: included 11 patients with liver cirrhosis and evidence of thrombosis [portal, DVT or both], Group II: included 17 patients with liver cirrhosis and evidence of bleeding tendency and Group III: included 8 patients with liver cirrhosis and no evidence of either bleeding tendency or thrombosis. There was highly significant reduction of the mean levels of the AT III, protein C and platelets among patients with liver cirrhosis in comparison to the healthy control [P = 0.000, P = 0.001 and P = 0.000 respectively]. The mean PT and aPTT times were significantly longer among patients with liver cirrhosis in comparison to healthy controls [P = 0.000 and p = 0.003 respectively]. Similarly the mean values of serum fibrinogen and D-dimer were significantly higher among patients with liver cirrhosis healthy controls [p = 0.000 and p = 0.003 respectively]. On the other hand no significant difference was found between patients and controls regarding the mean value of protein S [p = 0.401]. Total bilirubin, PT and aPTT showed positive correlation with Child score [r = 0.465, 0.552 and 0.582 respectively], while serum albumin, ALT. AT III and protein S showed negative correlation with Child score [r = -0.813, -0.405, -0.389, and -0.415 respectively]. Fibrinogen showed negative correlation with both the serum bilirubin and PT. AT III showed positive correlation with serum albumin and negative correlation with serum bilirubin, ALT AST and PT Protein S showed negative correlation with serum bilirubin. Protein C showed positive correlation with serum bilirubin, ALT, AST and PT. D-dimer showed negative correlation with AST. aPTT showed positive correlation with serum bilirubin, AST and PT. The mean values of AT III protein S and C were significantly lower in group I in comparison to group II [p = 0.035, 0.034 and 0.021 respectively]. On the other hand, a PTT was significantly longer in group II than group I [p = 0.006]. The mean values of protein C was significantly lower in group I in comparison to group III [p = 0.030]. The mean values of protein S was significantly higher in group II in comparison to group III [p = 0.038]. On the other hand, aPTT was significantly longer in group II than in group III [p = 0.005]. Conclusions: 1- both the levels of coagulation factors and coagulation inhibitors decreased in patients with liver cirrhosis in comparison to controls and this decrease correlated with liver dysfunction. 2- The occurrence of bleeding or thrombosis among patients with liver cirrhosis depends on the balance between the degree of reduction of coagulation factors and coagulation inhibitors so screening of these factors is essential for prediction of each of them

Anatomical variations of the uncinate process of the nose of egyptian population and its impact on different techniques of infundibulotomy

The uncinate process is a very important landmark in functional endoscopic sinus surgery, as its removal is the first step in anterior ethmoidectomy. An understanding of the anatomic variations of the uncinate process in any patient undergoing functional endoscopic sinus surgery [FESS] is critical to safely performing the infundibulotomy. The traditional method of performing infundibulotomy has the risk of penetration of the lamina papyracea with orbital fat exposure. Our aim of this Study was :1- To study the anatomical variations of the uncinate process in cadavers and CT scans of Egyptian population.2-To compare the traditional surgical technique of infundibulotomy and another technique of infundibulotomy [Retrograde infundibulotomy] .The incidence of orbital penetration, the ease of identification of the natural maxillary ostium and lacrimal apparatus injury by each technique were reported. The work was carried out on 30 cadaveric specimens, 100 radiological films and 100 patients of FESS. We the anatomical variations of the uncinate process in cadavers and C.T scans of Egyptian population were documented. The incidence of orbital penetration and - ostium non-identification was significantly less with the retrograde technique. No naso-lacrimal duct injury occurred with either technique of infundibulotomies. The techniques were described and the complications discussed .The retrograde technique of infundibulotomy is recommended technique as it is easy to learn, allows easy identification of the natural ostium of the maxillary sinus and is associated with significantly decreased incidence of orbital penetration

Hallervorden-Spatz syndrome Variable imaging findings

Authors describe clinical features, CT scan and MRI findings of 4 Egyptian boys [3 brothers from one sibship and a sporadic case] with Hallervorden-Spatz syndrome [HSS]. These patients presented around the age of 10-years-old with rigidity, dystonia, dysarthria, mental deterioration with loss of previously acquired skills and choreoathetotic movements. The 3 brothers developed seizures around the age of 16 and the older brother died at the age of 20. Although, the CT scan of the 3 brothers showed bilateral symmetrical calcification of the basal ganglia, the MRI of the 4 cases demonstrated bilateral symmetrical hyperintense areas surrounded by hypointense areas in the globus pallidus giving the characteristic "eye-of-the-tiger" sign. Based on the clinical and MRI picture, these 4 cases could be the atypical type of HSS. However, calcification of globus pallidus is an associated finding in these cases. This is the second report in the literature with this association. In addition, we present the results of the use of antioxidants, L-dopa and Botulinum toxin injections in the management of these cases

Hazard assessment of vanadium to oreochronies Niloticus Fish, [Tilipia Fish] present in the river Nile and some clinicopathological studies

The effect of dietary carbohydrates and vanadium toxicity on hematological profile, blood chemistry and hormonal level was studied in Tilapia nilotica. There is a significant decrease in hemoglobin and PCV in group 3. There is a significant increase in serum cortisol, cholesterol, AST, ALT, urea, creatinine and alkaline phosphatase in group 3, also there is a significant decrease in serum phosphorus, sodium and potassium in treated fish. There is a significant high level of vanadium content in kidney muscles, heart and spleen in group 3 suggesting a variety toxic effects of vanadium on Tilipia nilotica, the total viable count of bacteria identified higher in fish fed carbohydrate vandium. Predominate bacteria were identified as Aerumonas E.coli, Staph. aureus, Pseudomonas, Fluorscences and Lacto bacillus sp. It emphasizes the finding that increase in carbohydrate concentration causes harmful pathological effects which the reduces humoral immune responses and enhances dietary vanadium toxicity

Clinical and therapeutic aspects of typhoid fever in Upper Egypt

This study included 160 patients [97 males and 63 females, their ages ranged from 3 to 45 years with a mean of 14.66 +/- 7.62 SD] suspected clinically to be typhoid or paratyphoid fevers. They were classified into two groups: Group I, included 93 patients who were blood culture-positive for salmonella and group II, included 67 patients who were culture-negative for salmonella. The criteria of inclusion included patients presenting with fever five days or more with apparent toxemia, headache, coated tongue and with or without splenomegaly. The patients were subjected to full clinical history, general examination, abdominal examination, routine investigations [abdominal ultrasonography, chest X-ray, ECG, urinalysis and stool analysis, complete blood picture, liver function tests and kidney function tests] as well as investigations for the diagnosis of enteric fever, Widal and modified Widal tests to all patients. Serum chloramphenicol level was estimated in 43 patients in group I and in 29 patients in group II and no statistical significant difference was found in the mean level between the two groups. Concerning therapy in the two groups, the response to chloramphenicol was significantly higher in group II in comparison with group I. On the other hand, the resistance to chloramphenicol was significantly higher in group I compared with group II. The responses to antibiotics other than chloramphenicol were similar in the two groups

Some nutritional and clinicopathological studies in Japanese Quail exposed to a recently used pesticide [Copper oxychloride]

Thirty quails [80-100 g b. wt.] were divided into two groups to determine thenutritional and clinicopathological changes induced by 1% copper oxychloride. Blood samples were collected for determination of hemoglobin, PCV and somebiochemical blood parameters. Liver and kidney weight were increased and wereassociated with clinicopathological changes. Microbiological examination,revealed presence of Strept. pyogens, Klebsiella, Escherichia coli andanthracoids. A significant decrease in the value of Hb, PCV and iron wasdetected. There was significant increase in levels of ALT, AST, urea,creatinine, sodium, potassium, glucose, copper, cortisol hormone and insulinin treated groups in comparison with the control groups. Post-mortemexamination of scarified quails revealed hyperemia of internal organs [kidneyand liver]

Neuronal migration disorders: clinical, neuroimaging and neurophysiologic studies

Impaired neuronal migration is the basis of many cerebral malformations presenting with mental retardation, epilepsy and motor impairment. We aimed at correlating clinico-radiological presentations and findings of neuro-physiological studies in neuronal migration disorders. This study included 13 child, with mean age 22.6 months, from 12 families presented mainly with developmental delay and diagnosed by CT and MRI as neuronal migration disorders. Neurophysiologic studies including EEG and multi-modality evoked potentials, namely VEP and BAEP were performed. According to neuroimaging findings, lissencephaly was the commonest diagnosis [n=9], followed by unilateral open lip schizencephaly [n=2], periventricular heterotopia [n=1] and hemimegalencephaly [n=1]. Positive family history of similar cases was recorded in 3 families, all had lissencephaly. Abnormal EEG changes were observed in 12 patients [92.3%]; only 10 patients had epilepsy. EEG records were normal in a single patient with periventricular heterotopia. VEP was abnormal in 10 patients [76%] and BAEP was abnormal in 12 patients [92.3%]. Both VEP and BAEP were in the form of ill defined waves in patients with microlissencephaly. Asymmetry of BAEP between right and left side was detected in 3 cases; two of them had' unilateral disorders: hemimegalencephaly [n=1], and unilateral open lip schizencephaly [n=1] and the third had bilateral asymmetric periventricular nodular heterotopia. In conclusion, this study documented the frequent association of cortical and brain stem dysfunction with neuronal migration disorders. It also implied that the type of neuronal migration defect might influence the severity or symmetry of neurophysiologic studies results. Proper assessment of these cases clinically and by neuroimaging and neurophysiologic studies, advances our understanding thus genetic counseling of neuronal migration disorders

human interossous membranes anatomical and histological study

This study was performed to describe anatomical details and histological picture of interosseous membrane [IOM] of forearm as well as crural interosseous membrane [IOM]. The results showed that IOM of forearm was a complex structure joining radius and ulna and was formed mainly of collagen fibers with some elastic fibers. A proximal well- defined band was also found in about half of the specimens. Two major openings and two to three secondary openings were observed. As regards crural interosseous membrane, it was found to be whitish glistening membrane stretched between both crural bones and was formed mainly of collagen fibers, while elastic fibers could not be detected. Two major openings were observed as well as two to three secondary openings along the length of membrane were found

Serum and tissue CEA in gastric mucosa of patients with hepatosplenomegaly

This work was carried out to clarify the possibility of neoplastic transformation in patients with atrophic gastritis complicating endemic hepatosplenomegaly and to identify those with or at a special risk of developing premalignant or malignant gastric lesions. Estimation of CEA in the gastric tissue and serum of these patients will be our tool. This study was carried out on 3 groups. The study group included 35 patients having endemic hepatosplenomegaly associated with atrophic gastritis, the control group one comprised 10 normal individuals and control groups II included 18 patients with gastric adenocarcinoma. After detailed history, full clinical examination all study groups were subjected to complete urine and stool analysis and gastric biopsies were taken by endoscopy and stained by H and E. Paraffin section were further stained by tissue CEA and lastly serum estemation of CEA level was evaluated. These results were statistically analysed tissue CEA was positive in [37.1%], study group compared to 0% in normal individuals and [100%] in control group in having gastric adenocarcinoma while serum CEA was insignificantly higher than in normal group and significantly lower than control group II. No significant association was found between serum CEA and degree of mucosal atrophy. More over no significant association was found between serum CEA and tissue CEA in study group. These data conclude that atrophic gastritis complicating hepatosplenomegaly have increase incidence of tissue CEA than normal. Twenty per cent of those patients had level serum CEA higher than the cut off value denoting that these patients are at higher risk of developing carcinoma

Premarital genetic investigations: effect of genetic counselling

Over a period of 2 years, 86 couples [172 cases] were referred to the genetics clinic of the National Research Centre for premarital genetic counselling. About 73.25% had a family history of different genetic disorders. Consanguinity was found in 86.04%. Genetic investigations revealed chromosomal abnormalities in 26 cases [15.11%]; 23 cases [13.37%] had other abnormal results. After genetic counselling, postconceptional follow-up was carried out for 30 couples; 10 of them required amniocentesis that showed abnormal fetuses in 2 mothers. Other couples had normal offspring. We conclude that premarital genetic counselling is of great use in the detection of genetic disorders and is an essential step in changing attitudes towards premarital testing and reducing consanguineous marriage

distal fascicle of the anterior inferior tibio-fibular ligament in correlation with talar impingement

Up till now, the anterior inferior tibiofibular ligament [AITFL] is described in the anatomic tradition as one entity. The present investigation confirmed the presence of what was recently termed [a distal fascicle] of the ligament, which appeared as a separate band found in all [thirteen] the examined cadavers. It took the shape of a parallelogram that lied below and parallel to the rest of the AITFL. A pad of fat separated this fascicle from the rest of the ligament that masked its easy differentiation for a long time. In extreme dorsiflexion of the ankle, the lower border of the fascicle became tight and touched the dome of talus. Also, the clinical study showed audible popping and friction between the thickened fascicle and the opposite hyaline cartilage on talus. This indicated a ligamentous talar impingement with chronic pain on the anterolateral aspect of the ankle in 5 out of 9 patients with soft tissue talar impingement syndrome related to the anterolateral compartment of the ankle. Arthroscopic resection of the distal fascicle gave excellent results with complete relief of pain in all 5 patients suffering of this lesion. Arthroscopic removal of this fascicle along with treatment of other offending pathological lesions gave excellent results in 8 out of 9 patients after an average follow up of 13 months. It was concluded that the anatomy of this distal fascicle has to be included in literature. Furthermore, its pathologic role in talar impingement should be appreciated, yet not overemphasized by clinicians and those dealing with sport injuries, especially when exostoses are absent in radiographs