Serum Sclerostin Levels in Patients with Human Immunodeficiency Virus Infection and Their Association with Bone Turnover Markers and Bone Mineral Densitometry

BACKGROUND: The aim of the study was to compare serum sclerostin levels in human im-munodeficiency virus (HIV)-infected patients and healthy controls, and to evaluate their relationship with bone turnover markers (BTM) and bone mineral density (BMD). METHODS: We prospectively studied 33 HIV treatment-naive patients and 63 healthy individuals; matched for age and sex. Serum sclerostin levels, BTM, BMD were measured. Viral load and cluster of differentiation 4 (CD4) levels were also assessed in HIV-infected patients. RESULTS: The mean+/-standard deviation (SD) age of sample was 37.6+/-10.3 years (range, 19 to 59 years). Of the 96 subjects, 58 (60.4%) were male and 38 (39.6%) were female. Infection with HIV is associated with significant reduction in serum sclerostin levels (HIV-infected: 39.4+/-28.3 vs. non HIV: 76.6+/-15.7 pmol/L; P0.05). CONCLUSIONS: These findings suggest that untreated HIV and the resulting immune deficiency and/or systemic inflammation could be an important regulator of serum sclerostin in this population.

Quality of life among visually impaired elderly at assiut university hospital

Vision impairment is common among older adults and increases with age. About 314 million people are visually impaired worldwide; 45 million of them are blind. Most people with visual impairment are older, and females are more at risk at every age. About 82% of all people who are visually impaired are age 50 years and older [although they represent only 19% of the world's population]. About 87% of visually impaired live in developing countries, [World Health Organization [WHO], 2009]. This study aimed to assess the quality of life among visually impaired elderly patient attending ophthalmic clinic at Assiut University Hospital. Methods: Descriptive, Cross Sectional research design was used in this study. The total number of the study subjects were 275 elders aged 60+ years, Alert, able to communicate and agreed to participate in the study two tools were used to collect the data needed for the study. The first tool was structured interview sheet, it consisted of three parts, and the first one was concerned with personal and socio-demographic characteristics of the study sample. The second part covered the elderly medical history [history of eye disease, onset of visual impairment, first time of eye examination, changes in vision acuity during the last years, onset of changes in vision acuity, measures taken on onset of the disease]. Part Three: it included the other health problems as diabetes mellitus, hypertension, cardiovascular disease, arteriosclerosis, or other diseases. The second tool was Quality of Life Scale: it include information related to the original scale constructed by Lehman [1986] and from WHO [1997]. It consists of [50] items divided into six domains or subscales, the quality of life domains are physical health, self-dependence, psychological status, social relationships, environment, and spiritual/ religion/ personal beliefs. Data was collected during the period from the first of June2009 to the end of May2010. The present study showed that the mean age of the studied sample was 65.95 +/- 6.23 years with directed relation between quality of life scores of the studied sample and their age. Vision impairment was more common in female than male the result of the current study revealed that more than three-fifths of studied sample was female. Regarding to the cause of visually impaired, it noticed that cataract was a relatively frequent cause of visual impairment, more than three-quarter of the studied sample had cataract, visual impairment is associated with a significant decrease in QOL among the studied sample, [14.9%] of the studied sample had low score while three-fifths of them had moderate score. Visual impairment affected QOL domains, such as physical domains, self dependence psychological status, social domains, and environment domains. The results of the present study offer general awareness of the impact of visual impairment on the QOL of elderly patient. This suggests a greater need for eye care services in older populations. Increasing elderly awareness about the importance of regular eye examinations to detect early health deviation to make early detection, treatment, and prevent complications. Screening for all elderly population who suffer from diabetes for early detection of diabetic retinopathy this should be part of the health examination

Multi-biomarker responses to bioaccumulation of diclofop-methyl in freshwater fish [Oreochromis niloticus]

The present study was undertaken to assess the environmental hazards presented to wildlife by new pesticides or new uses of established pesticides, biochemical changes, residual behavior and accumulation of diclofop-methyl [Iloxan 36 % EC]. A laboratory trials of diclofop-methyl were carried out on tilapia fish, Oreochromis niloticus as indicator species to . Acute toxicity of diclofop-methyl [Iloxan 36 % EC] was carried out and the median lethal concentration for 96 hours [96 h - LC50] value was 1.89 mg / l. In the present study, two groups of fish were exposed to two sub lethal concentrations selected on the basis of 1 / 10 [0.19 mg / l, low concentration] and 1 / 3 [0.63 mg / l, high concentration] of diclofop-methyl LC50 value for 28 days under the laboratory conditions compared to the control group. The treatments indicated that a gradual bioaccumulation of herbicide with time in whole fish was more pronounced than in muscle. Several criteria for estimating pesticide accumulation effect were studied on different biochemical parameters in plasma of fish after treatments. The results indicated that alanine aminotransferases [ALT], alkaline phosphatase [ALP] and acetylcholinesterase [AChE] activities as well as albumin and glucose levels increased significantly after treatment with both concentrations comparing to control group. However, significant increase in aspartate aminotransferases [AST] and total protein levels with was recorded low concentration [0.19 mg / l] only. On the other hand, high concentration [0.63mg / l] caused significant increase in urea levels. However, ceriatinine level was decreased in both exposed concentrations. Noticeable changes in antioxidants biomarkers were recorded, a reduction in SH-protein level accompanied with an elevation in lipid peroxidation biomarker [MDA] were recorded in plasma after treatment with two concentrations. The previous results were accompanied with noticeable alterations in plasma and muscle protein patterns in both treated groups

Genetic study of patients with proportionate growth deficiency referred to human genetics clinic, in Alexandria

Growth deficiency is the term that describes a growth rate below the appropriate growth velocity for age. Normal stature varies widely among ethnic groups and within each ethnic group approximating a normal distribution. Short stature may be proportionate or disproportionate. Children with proportionate short stature may have more generalized disorders. The aim of the present work was to study the phenotypic variations in patients with proportionate growth deficiency, and to evaluate the diagnosis to provide accurate genetic counseling. The study included 53 patients with proportionate growth deficiency from those attending the Human Genetics Clinic, Medical Research Institute, Alexandria University, during a four years period. They were subjected to a complete genetic and family history, pedigree analysis, complete genetic examination, ant hropometric measurements, cytogentic analysis and others investigations when needed. The results showed that group I consisted of 17 cases [32.07%] with chromosomal anomalies [7 cases with numerical aberrations and 10 cases had structural anomalies], group II included 21 patients [39.62%] with single gene disorders [11 patient had autosomal dominant disorders. 9 cases with autosomal recessive diseases and only I case with X-linked recessive disorder]. Group Ill consisted of the sporadic syndromes [11 cases; 20.75%] and the last group had disorders due to teratogens [4 cases; 7.56%]. It is essential that a specific diagnosis should be made because there are hundreds of causes for growth deficiency that have differing prognoses, complications and responses to treatments

P53 alterations in a group of Egyptian colorectal cancer patients

The p53 gene is located on human chromosome 17p13.1 and consists of 11 exons. Deficiencies in the p.53 gene can cause the cancerous cells to spread to distant organs. The most common p53 abnormalities that can lead to metastasis of colorectal tumours are mutation and deregulation of the gene. Aim of the study in the present study, we assessed the presence of P53 gene mutations and p53 protein expression and their prognostic significance in 43 patients with colorectal cancer. Histopathological examination of colonoscopic biopsies specimens, chest and abdomen CT were done for all patients. Genomic DNA was extracted, and exons 4-8 of the p53 gene were amplified, and analyzed for mutations by single strand conformation polymorphism [SSCP] and direct sequencing. The production of p53 proteins was studied by immunohistochemistry [IHC]. Results P53 mutations were found in 27/43 [63%] cases. A total of 11 types of p53 gene mutations were found by direct sequencing. More than half of these mutations appear in three hot spot codons: 175, 248 and 273. The SSCP analysis demonstrate that most common p53 gene alterations were found in exon 5 [35%]. IHC detected 34 tumors [79%] with protein overexpressior [when a cut point of 20% positive cells] and 25 tumours [58%] [When a cut point of >/= 50% positive cells were used]. it was found that p53 mutation analysis corresponds well with p53 immunohistochemistry [p < 0.001]. The majority of gene mutations were found in tumours from the rectum and distal colon. No statistical signitficant relation was found between P53 gene mutations and Duke's staging [P > 0.05]. However, a significant statistical relation was found between P53 gene mutations and prognosis in the studied colorectal cancer patients [p < 0.05]. Molecular and cellular evaluation. of p53 is clinically important, and there are strong indications, especially in colorectal cancer, that mutational status and mutational position in the P53 gene have a prognostic value. However the study of other genes involved in colorectal cancer is necessary

Brain MRI and CT findings in sickle cell disease patients from Western Saudi Arabia

To report the clinical and imaging findings in patients living in the Western Province of the Kingdom of Saudi Arabia where the Benin b-globin gene haplotype is prevalent. Our study population consists of 36 sickle cell disease patients [17 males, 19 females; age range, 1.6-35.6 years; mean age, 19.4 years] with suspected cerebrovascular complications. Major clinical presentations were as follows: stroke symptoms or history of stroke in 13 [36%] patients, severe headache in 16 [44.4%], and seizures in 9 [25%]. All patients underwent brain CT, or MRI study, or both, including diffusion imaging and magnetic resonance angiography. We conducted the study between August 2001 and June 2004 at King Abdul-Aziz University Hospital, Jeddah, Kingdom of Saudi Arabia. Based on MRI, or CT, or both, we found cortical infarction in 30.6% [11/36] of patients. The frontoparietal temporal region was the most commonly involved part and occurred in 4 patients. We diagnosed small vessel disease in 38.9% [14/36] of patients, and involvement was bilateral in 9 patients. Small vessel disease involved deep white mater more than basal ganglia, and the caudate nucleus was the most commonly involved site in basal ganglia. We detected cerebral atrophy in 52.8% [19/36] of patients. An unusual finding was an epidural hematoma associated with skull bone infarctions and scalp edema that we successfully managed conservatively. We observed a widening of the diploic space of the skull in 10 patients. We saw adenoid hypertrophy in a significant number of patients [72% [26 of 36]]. Sickle cell disease cerebrovascular complications are of major concern to the physician. Cerebral atrophy is the most common imaging finding followed by small vessel disease and then by cortical infarction. There was an increased incidence of adenoid hypertrophy

Quality assurance of measured photon and electron beams data from a medical linear accelerator

The physical and dosimetric properties of the SL-15 linear accelerator [linac] were carried out. The machine produces 6- and 10-MV photons as well as electron energies in the range 4 - 15 Mev. The measurements and calculations included the central axis depth dose, percentage depth dose [PDD], tissue maximum ratio [TMR], surface dose, build-up region, specific energy beam profile specifications and output factor. The data obtained were compared specifications and output factor. The data obtained were compared with the published and calculated data using Radiation Oncology Computer System [ROCS]. The symmetry flatness, uniformity and the beam-profile specifications of SL-15 [linac] were within the manufacture's specifications and acceptable for clinical applications. The D[50], D[80], D[10]/D[20] and D[5]/D[15] are listed for different accelerators as indication for the beam specific energy. The X-ray contamination from SL-15 collimating system was found to be within 4% of the maximum dose. The data obtained allow to be used for inter comparison in radiotherapy centers. National and International, for accurate and uniform dosimetry treatment planning delivery. These records are useful in anticipating or detecting faults in the system and as reference at later date

surface electrical properties of splenic lymphocytes of bilharazial and non-bilharzial subjects

The membrane surface electrical properties of spleine lymphocytes from an accident victim [control] and from Egyptian bilharzial patients were studied by electro-rotation. Phytohaemagglutenines [PHA-P and PHA-M] or pokeweed [PWM] were the mitogens used for cell stimulation. The unstimulated bilharzial lymphocytes had larger radii than those from the control probably because they were already stimulated by the disease state. After stimulation, all lymphocytes increased steadily in size and consequently in membrane are. The values for membrane capacity [C[M]] were higher for control lymphocytes than for bilharzial cells. All CM values were increased with the duration of stimulation except for the bilharzilal cells incubated with PMW, which peaked on day 1 and deteriorated very rapidly after that. The values calculated for membrane conductivity [G[M]] followed a different pattern. The C[M], levels exhibited peak values after different durations of stimulations depending on the cell type [control or bilharzial] and the mitogen used. The changes in conductivity may reflect alterations in transmembrane transfer activity

In Vitro influence of some local anaesthetics on the surface electrical properties of erythrocytes

Four molecules [Procaine, Tetracaine, Bupivacaine and Lidocaine] of either the ester or amide type of local anesthetics were studied. Erythro-cytes were used to provide the membrane model. The surface electrical properties were determined by the electro-rotation technique. It was found that the surface conductance, Ks was the most sensitive parameter, while the membrane capacity [CM] refractory to treatment with the local anesthetics tested. The values for Ks decreased with the increase in the concentrations of the local anesthetics giving concentration-response relationships. The values of the EC50 were found to be in the following order: Tetracaine [22.63 nM] > Bupivacaine [45.91] > procaine [59.57 nM] = Lidocaine [59.73 nM]. The values were inversely proportional with lipid/water partition coefficients of the respective molecules

X-linked disorders among patients with suspected genetic disorders attending the genetic clinic in Alexandria

A total of 1825 patients referred to the Genetics Clinic, Medical Research Institute, Alexandria University were assessed to determine the frequency of X-linked disorders. It was found that 3.0% [55/1825 cases; 52 males and 3 females] had X-linked disorders; 31.0% [17/55] had fragile X-syndrome 21.8% [12/55] had androgen insensitivity syndrome, 14.5% [8/55] had muscular dystrophy, 14.5% [8/55] had biochemical disorders and 18.2% [10/55] had X-linked syndromes. The frequency of consanguinity among parents of cases with X-linked disorders was 29.1%. Positive family history was detected in 29.1% of cases. These findings are crucial for geneticists and genetic counsellers in their evaluation, diagnosis, counseling and management of patients

molecular study of methylenetetrahyrofolate reductase gene in mothers of standard down syndrome patients

The observation that a lot of children with Down syndrome are born to mothers with young age made it important to identify the mechanisms involved in this young age group. It was found that DNA hypomethylation is associated with chromosomal instability and abnormal chromosome segregation. This knowledge led to the clarification of the role of enzymes involving in the methylation reaction like Methylene Tetrahydrofolate Reductase enzyme [MTHFR]. The C-T common polymorphism at nucleotide 677 [C677T], which results into an alanine to valine substitution in the MTHFR protein, caused higher thermolability and reduced enzyme activity in lymphocyte extracts. In order to verify this association, we studied the presence of the C677T polymorphism of the MTHFR gene in 50 mothers of Down syndrome children and 50 control mothers. A non-significant higher incidence of the mutant T allele in Down syndrome children mothers [6%] than in control [2%] was detected. These results do not support the presence of an increased risk of Down syndrome mothers carriers of the T allele in Egyptian population

Environmental assessment of groundwater in Qaret Um El-Saghir, north western desert, Egypt and its health effects

Qaret Um El-Saghir is a small oasis lies at the southwestern corner of El-Qattara depression. The area has been surveyed geologically and geomorphologically using landsat [TM] image and varified in the field. The surface geology is represented by Maghra Formation [Miocene] forming the bottom of the depression and partly the walls specially at the eastern side of the depression. Marmarica Formation [Miocene] from the walls of the depression as well as the northen plateau. Minqar El-Talh Formation [post Micene] and Quaternary deposits are represented by sabkhas, playas and sand dunes forming the cultivated lands

Genetic study of multiple congenital contractures [Arthrogryposis Multiplex Congenita]

This work was carried out to study different conditions with arthrogryposis and their mode of inheritance that would allow proper diagnosis, management and appropriate genetic counseling. The study included 30 patients with arthrogryposis attending the Genetic Clinic, Medical Research Institute, Alexandria University. The frequency of parental consanguinity was 50%. An abnormal pregnancy history was found in 22 cases. Both upper and lower limb affections were noticed in twenty-eight patients, while isolated upper limb affection occurred in one case and isolated lower limb affection in one case. Finger joints were the most commonly affected. It was concluded that the examination of all joints in the upper and lower limbs is the key of diagnosis in the majority of cases of arthrogryposis. There is a marked inter- and intra-familial variability in many conditions with arthrogryposis. An accurate diagnosis is important in genetic counseling, prevention, management and prognosis

Isolated pelvic stopflow infusion technique for locally advanced gynaecological malignancy

This study included 45 patients who were classified into 2 groups: Group I included 25 patients with locally advanced ovarian cancer; 8 patients received the standard chemotherapy and/or radiotherapy, 9 patients received isolated pelvic stop-flow infusion [IPSFI] with the intent of palliation and 8 patients received preoperative IPSFI with the intent of understaging, followed by surgical resection. Group II included 20 patients with locally advanced cancer cervix; 7 patients received the standard chemotherapy and/or radiotherapy [control group], 6 patients received IPSFI with the intent of palliation and 7 patients received preoperative IPSFI with the intent of understaging, followed by surgical resection. IPSFI was accomplished by placement of balloon- occlusion catheter in the aorta at L3 vertebral body level via the common femoral artery. Cytotoxic agents were infused into the aorta distal to the occlusion catheter through a pigtail catheter placed in the other limb. After 10-20 minutes, the aortic balloon was deflated and removed. So, it was concluded that isolated pelvic stop flow infusion improves the outcome of patients with advanced gynaecologic malignancies, as it enhances resectability, radio responsiveness and eradicates micrometastasis. PSFI with cisplatin and bleomycin, followed by radical surgery and postoperative radiotherapy is effective in treating advanced gynaecologic malignancies. PSFI increased tumour exposure to high drug concentration with minimal side effects and thus may be appropriate for patients with locally advanced gynaecologic malignancies

Evaluation of pelvic stop-flow infusion in the managment of patients with locally advanced urinary bladder and rectal malignancies

Control of pelvic cancer may improve the quality of life in such patients and result in longer survival even in the presence of cancer outside the pelvis. Systemic chemotherapy and radiation therapy has failed due to high resistance of the tumour and poor vascularisation. Regional pelvic chemotherapy, by isolated regional perfusion, has been used by several groups in an effort to control advanced bladder and rectal malignancies. In the last 10 years, however, less emphasis has been placed on perfusion and more on intra-arterial chemotherapy alone or in conjunction with chemofiltration. Although their initial technique used an open occlusion of the aorta and inferior vena cava, they subsequently adapted the use of balloon occlusion- catheter. The aim of this work is to evaluate the applicability, efficacy, and safety of Pelvic Stop-Flow Infusion [PSFI] in the management of patients with locally advanced bladder and rectal malignancies. To complete our study in this field after our successful initial experience in management of locally advanced cancer cervix and ovaries. The study included 45 patients with locally advanced or recurrent cancer bladder and 45 patients with locally advanced or recurrent cancer rectum. Patients are classified into 2 classes: Class 1: Including 45 patients with advanced or recurrent cancer bladder previously treated by surgery, radiotherapy and/or chemotherapy. They are divided into 3 groups [Group I: [Control group]: included 15 patients whom received conventional chemo/radiotherapy. Group II: [Palliative group] included 15 patients, whom are not candidates for surgical interference. They received PSFI with the aim of palliation. Group III: [Pre-operative group]: included 15 patients, whom are candidates for surgery after receiving PSFI with the aim of under-staging. The type of surgery might be definitive, cytoreductive, or palliative. Class II: Including 45 patients with advanced or recurrent colorectal cancer previously treated by surgery, radiotherapy and / or chemotherapy. They are divided into 3 groups, each of them included 15 patients: Group I: [Control group], Group II: [Palliative group], Group III [Pre-operative group]. As first described by Aigner, 1993, the technique entails exposure of the Femoral artery and vein via a longitudinal incision in the groin, then arteriotomy and venotomy were done for admitting the large bore, rigid catheters. A more simplified our technique, the percutaneous balloon infusion, is the one we used. Serial pelvic and systemic blood samples were collected during the infusion period, and pelvic- to systemic drug- exposure ratio was determined. Tumour response was evaluated 8-12 weeks after completion of aortic stop-flow infusion cycle [s] with clinical examination, tumour volume response [by abdomino-pelvic CT], pain response, histological response, tumour marker response, laparotomy finding, disease frees survival [as regard further metastasis and local recurrence], procedure related complications, chemotherapeutic toxicity, and overall survival. Our study found that: In Cancer bladder patients treated with palliative pelvic stop-flow: 10/15 cases [66.6%] shown reduction of size, and 8/15 patients [53%] shown improvement of pain. In Cancer bladder patients treated with pre-operative pelvic stop-flow: 12 out of 15 cases [80%] shown reduction of size, with a highly significant P- value = 0.005 [9/12 underwent radical cystectomy, the remainder underwent palliative resection], and 9 patients [60%] shown improvement of pain. In colorectal cancer patients treated with palliative pelvic stop-flow: 11/15 patients [73.3%] shown reduction in size, and 7/15 patients [46.7%] shown improvement of pain. In colorectal cancer patients treated with preoperative pelvic stop-flow: 13 out of 15 cases [86.6%] shown reduction of size, with a highly significant P- value 0.003, [5/13 underwent abdomino-perineal resection, 3/13 underwent low anterior resection, and 2/13 underwent abdomino-perineal resection and liver metastectomy, the remainder 3 patients underwent palliative resection] Also 8/15 patients [53.3%] shown improvement of pain. The stop-flow method is introduced to markedly reduce blood flow to target tissue, and higher drug delivery than either simple intra-arterial or intravenous infusion. [2] Retarded blood flow may improve response not only by lengthening exposure time, but also by induced tissue hypoxia and low cellular pH. [3] Our technique is a new, easy, low cost procedure that can be done as a one-day procedure in the angiography room

Nucleolus organizer region heteromorphism in patients with Down syndrome and their parents

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

diagnostic clinical genetic study of craniofacial dysmorphism

A diagnostic evaluation of craniofacial anomalies, either isolated or as part of a genetic syndrome was conducted on 25 patients [8 females, 17 males], age range 2 months to 47 years. Complete genetic examination, pedigree analysis, anthropometric measurements and radiological studies were carried out. Cytogenetic studies included fluorescence in situ hybridization [FISH] when indicated. In all, 15 patients had chromosomal abnormalities. Five patients had unbalanced chromosome rearrangements and six had chromosome markers. Three patients were FISH-positive for William syndrome and one was positive for Prader-Willi syndrome. Ten patients had monogenic disorders. Five were diagnosed as craniosynostosis syndromes. We conclude that minor features are useful for making a diagnosis of congenital anomalies