A novel PTCH1 gene mutation in a pediatric patient associated multiple keratocystic odontogenic tumors of the jaws and Gorlin–Goltz syndrome.

Gorlin–Goltz syndrome (GGS) is an uncommon autosomal dominant inherited disorder which comprises the triad of basal cell carcinomas (BCCs), odontogenic keratocysts, and musculoskeletal malformations. Besides this triad, neurological, ophthalmic, endocrine, and genital manifestations are known to be variable. It is occasionally associated with aggressive BCC and internal malignancies. This report documents a case of GGS with a novel mutation in the PTCH1 gene in an 11‑year‑old child. The clinical, radiographic, histopathologic and molecular findings of this condition, and treatment are described, and a review of GGS was carried out.

Prevalence of occult hepatitis C virus in patients with HCV-antibody positivity and serum HCV RNA negativity

Introduction and aim: chronic hepatitis C infection [CHC] is a global health-care problem with an increasing burden year-by-year, particularly in Egypt. Even with the advent of high sensitive techniques, a subset of patients with positive HCV-Ab and negative HCV-viremia remain challenging. Therefore, we herein tried to determine the prevalence of occult HCV infection in peripherd blood mononuclear cells [PBMCs] of Patients presented with positive serologic test for anti-HCV-Ab and negative serum HCV-RNA-PCR [spontaneously cleared-patients] and also, we followed up those patients

Patients and Methods: between March 2010 to March 2015, a prospective study was designed to include all consecutive patients with HCV-Ab positivity and HCV-RNA negativity who attended to Assiut unit for treatment of viral hepatitis; sector of national committee for contrbl of viral hepatitis. A total of 25 patients were recruited. Spontaneous clearance of serum HCV infection was approved by [HCV-Ab positive using two 3rd generation ELISA tests and serum HCV RNA negative in three consecutive occasion each six months apart]. Follow up serum HCV RNA for patients with Occult 1 HCV Infection every 6 months. The RNA extraction step was performed by a protocol modified from, that of the QIAamp viral RNA kits [Qiagen, courtaboeuf, France]. Blood samples for separation of I PBMCs were collected from all patients. PBMCs were obtained using Ficoll-Hypaque density gradient of EDTA anticoagulated blood according to the manufacturer's instructions [Lymphoflot, Biotest,Dreleich, Germany]. Detection of HCV viral load was performed by kit supplied by applied Biosystem [HCV RT-PCR Kit lot No.]

Results: a total of 25 [21 males, mean age 36.2 +/- 9.1] patients who cleared HCV spontaneously [HCV- Ab positive and serum HCV RNA negative]. The genomic HCV RNA was detected in PBMCs from 3 [12%] of 25 patients. Follow up for those three patients with occult HCV infection were done for 18 months by measuring serum HCV RNA by using highly sensitive real-time Polymerase Chain Reaction [RT-PCR] every 6 months, only single patient became overt HCV with low level of viremia

Conclusion: occult HCV infection was detected in a considerable prevalence in patients in whom apparent clearance of HCV-viral load occurred that entails corporations of HCV-viral assay in PBMCs into the diagnostic algorithm

Identification of Acinetobacter clinical isolates by polymerase chain reaction analysis of 16S-23S ribosomal ribonucleic acid internal transcribed spacer.

Background: The genus Acinetobacter is a diverse group of Gram‑negative bacteria involve at least 33 species using the molecular methods. Although the genus Acinetobacter comprises a number of definite bacterial species, some of these species are of clinical importance. Therefore, it is of vital importance to use a method which is able to reliably and efficiently differentiate the numerous Acinetobacter species. Objectives: This study aims to identify Acinetobacter of clinical isolates from Assir region to the species level by 16S‑23S intergenic spacers internal transcribed spacer (ITS) of ribosomal ribonucleic acid (rRNA). Materials and Methods: Deoxyribonucleic acid extraction, polymerase chain reaction amplification of 16S‑23S intergenic spacer sequences (ITS) was performed using the bacterium‑specific universal primers. Results: Based on the 16S‑23S intergenic spacers (ITS) of rRNA sequences, all isolates tested were identified as Acinetobacter baumannii. The isolates shared a common ancestral lineage with the prototypes A. baumannii U60279 and U60280 with 99% sequence similarities. Conclusion: These findings confirmed 16S‑23S rRNA ITS for the identification of A. baumannii of different genotypes among patients.

Cutaneous Leishmaniasis in El-Madinna Manowra region, Saudi Arabia in 2012.

Objective: Leishmaniasis is a parasitic disease causing major public health problem in form of visceral and cutaneous types. The cutanoue leishmaniasis is caused by L. tropica, in low-land areas without reservoir; Arthroponatic leishmaniasis (ACL), Zoonotic Cutaneous Leishmaniasis ( ZCL), in high-land. This case report involved; 25 years old Egyptian active young single male adult, stayed in Utama (75 Km far from El-Madina Manowra on the road to Makkah). He presented with three skin lesions on his arms occurred within the last 1-3 months. on examination revealed; volcano- like indurated ulcers which clinically suspected as leishmania lesions. Materials and Methods: Laboratory investigations were involved; skin smear using Giemsa stain, Leishmanin test (LST), polymerase chain reaction (PCR), sequencing and phylogenitic analysis BLAST (NCBI). Results: Microscopy positive LDB (leishmanin donovani bodies), Leishmanin test (LST) was negative. PCR positive L. major. Sequence alignment were 100% with nine Iranian isolates and one Tunisian isolate. After one month of treatment with Pentostam (Sodium stibogluconate) local injections at the site of lesions the lesion progressed from ulcer to scar. Conclusion: L. major is a major species causing cutaneous leishmaniasis in Al-Medina Manowra region in Saudi Arabia. The usage of the polymerase chain reaction (PCR) is a useful diagnostic tool and help to identify the causative species.

Marsupialization of unicystic ameloblastoma: A conservative approach for aggressive odontogenic tumors.

Unicystic ameloblastoma (UA) is known as a distinct entity which has a less aggressive behavior when compared with conventional ameloblastoma. In this report, we have presented two cases of UAs, (of which one case showed a more aggressive behavior with mural invasion into the adjacent tissues and granular cell differentiation), both of which were successfully managed with enucleation following marsupialization. We aim to highlight how this method can be used for the successful management of such cases, rather than following more aggressive approaches. In both the cases, marsupialization was done for the UA lesions initially and follow-ups were maintained. When the tumor size had regressed on radiographic follow up, an enucleation procedure with ostectomy of the margins was carried out. Special importance was also given to the endodontic treatment of the teeth involved in the area of the lesion. The patients were free of the condition and did not show any signs of recurrence on radiographic follow-ups even after 30 months of the final procedure. Granular variant of UA is quite rare and had been considered to be more aggressive. Marsupialization of UA is an alternative treatment option of resection even for more aggressive variants, as long as the histological behavior of the lesion was carefully evaluated and strict radiographic follow-up is maintained.

Psychiatric profiles in patients with liver cirrhosis

Psychiatric disorders are common comorbidities in patients with liver cirrhosis that may impair patients' quality of life. The purpose of this study was to evaluate the common psychiatric disorders in cirrhotic patients in our locality. Subjects and Psychiatric disorders were prospectively assessed by administration of Symptom Checklist-90 revised [SCL-90-R], Hamilton anxiety rating scale, and Hamilton Checklist of Symptoms of depressive illness to 200 patients with liver cirrhosis and 200 control volunteers of matched age. In addition, clinical data, abdominal ultrasonography and laboratory data [liver function tests for patients] were collected. Results. Compared with controls, cirrhotic patients were significantly more likely to have depression [43.5% versus 14%, P< 0.001], anxiety [16.5% versus 5.5% P< 0.001] and increased mean scores of SCL-90-R subscales ['e.g. somatizalion, depression and hostility,]. Increasing severity of liver cirrhosis [based on the Child-Pugh score] was associated with increased frequency of Psychiatric disorders. Compared with the control group, patients with liver cirrhosis showed significantly higher frequency of comorbid psychiatric disorders which is increased by worsening disease severity

Acute demyelinating encephalomyelitis with polyneuropathy caused by acute brucella infection: a case report

Brucellosis is a zoonotic infectious illness. It is the commonest zoonotic illness in the world. Our patient, a forty-year-old Saudi lady had fever, diminished level of consciousness, bilateral optic atrophy, bilateral sensorineural deafness and upper motor neurone type paraparesis with bladder involvement. This is an uncommon and rare combination of clinical presentation in acute brucellosis. Brain magnetic resonance imaging [MRI] showed features of acute demyelinating encephalomyelitis [ADEM]. Electrophysiological studies of the extremities revealed motor sensory neuropathy with axonal involvement. To the best of our knowledge, a case of acute brucellosis with such a combination involving both the central and peripheral systems simultaneously in a patient has not been reported before. After appropriate diagnosis our patient responded remarkably well to the treatment

Thyroid Dysfunctions in Sudanese Patients with Vitiligo

Introduction: Vitiligo is a chronic acquired skin condition that causes loss of pigment; resulting in irregular pale patches of skin. The precise cause of vitiligo is not fully understood. The autoimmune base of the disease is supported by the frequent observation that several autoimmune disorders; particularly thyroid diseases; are associated with vitiligo. Objective: To determine the frequency of thyroid dysfunctions in Sudanese patients with vitiligo. Methods: Two groups; i.e. vitiligo patients and control; were collected with simple random collection. The control group included individuals free of vitiligo. 5 ml of venous blood was taken from every individual in both groups and the ELISA test was done for thyroid hormones; i.e. T3; T4 and TSH; using the DRG-USA kits. Results: The number of patients with vitiligo in the study was 46; while the control group was 45. Nine (19.56) patients were found to have abnormal levels of thyroid hormones. No abnormal levels in the control group. Mean T3 level in patients was 1.463ng/l; while in control group it was 1.467ng/l. Mean T4 level in patients was 102.761 nmol/l; while in control group it was 90.844 nmol/l. Mean TSH level in patients was 0.841 ?IU/l; while in control group it was 1.50 ?IU/l. The t-test was done to determine the significance of difference between means of T3; T4; and TSH between the patients and control groups. The P-values were found to be significant.Conclusion: There is a strong pathogenetic relationship between vitiligo in Sudanese patients and thyroid dysfunctions

High incidence of idiopathic thrombocytopenic purpura in Jahra region of Kuwait

To study the incidence of ITP in adults in Jahra region. A retrospective study of all thrombocytopenic patients admitted to adult medical wards of Al Jahra hospital was performed during two years, [2003-2004 inclusive]. Adult medical wards of Al Jahra hospital, Kuwait. Out of the total 81 patients with thrombocytopenia, 34 cases [41.2%] were found to be due to ITP. Jahra hospital is the only referral hospital in Jahra region, catering to a population of 280,000 which makes the incidence of 60 per million populations per year. Thirty ITP patients had first line medical treatment, 3 required splenectomy and one responded to second line treatment of Azathioprine. Incidence of ITP varies significantly in different parts of the world. The incidence in Kuwait is higher than that seen in other parts of the world

Effects of Medication with Ivermectin; Chloroquine and Artemether on Plasma Nitrate / nitrite Levels in Calves Naturally Infected with Onchocerca Gutturosa

In a comparative study involving the use of Ivermectin; Chloroquine and Artemether against Onchocerca gutturosa in calves; the plasma nitrate /nitrite concentration was measured. Following treatment and clearance of skin mf of O. gutturosa; the plasma nitrate/ nitrite concentrations; nor the stable end product of Nitric Oxide (NO) breakdown; rise significantly although it showed short peaks following reduction in dermal mf counts but no clear correlation was detected

[ epidemio clinical of lichen sclerosus about 31 cases]

Lichen sclerosus is a chronic inflammatory mucocutaneous disease. Through a retrospective study of all patients with Lichen sclerosus followed between 1997 and 2005 at the dermatology department of La Rabta hospital, we outline the epidemio-clinical aspects of this entity. There were 29 female and two male. Two patients were child. The mean age at the occurrence of adult lichen sclerosus was 51, 5 years. The site of the lesions was perineum and genital in 26 cases [one male and 25 female]. Extragenital involvement was present in 10 patients. All patients underwent topical corticosteroid therapy. Architectural changes of vulva were noted in 7 cases. An epidermoid carcinoma occurred in five patients. The male Lichen sclerosus seem to be rare in our study. It is probably explained by the protective role of the circumcision which is practised in all male children in our country. In our study, the risk of malignant transformation of genital Lichen sclerosus is estimated at 19, 2%. It is lightly more than mentioned in the literature. This may be related to the cofactor role of l-IPV and to an insufficient treatment adherence

Parasitological versus renal and hepatic stigmata after using a new chemotherapeutic agent in experimental schistosomiasis haematobium

This study aims to clarify the parasitological effect of a new antischistosomal drug: Ro 15-9268 [9-acridanone hydrazone derivative, synthesized by Hoffman La-Roche Co. Basel, Switzerland] in experimental schistosomiasis haematobium infection. It also aims to study the repercussion of using this compound on some of the major liver [ASAT and ALAT] and kidney [Serum urea, uric acid and creatinine concentrations] function tests. Forty Golden Syrian hamsters have been used in the experiment. Animals were divided into two major groups. Group I: Included infected [300 +/- 50 cercariae/ hamster] untreated control animals sacrificed at 13, 15, 17 and 19 weeks post infection respectively. Group II: infected hamsters further subdivided into three orally treated small subgroups: subgroup IIa: received Ro15-9268 [5mg/Kgb.wt.], subgroup lIb: treated with the same drug [10mg/Kgb.wt] and subgroup IIc: given oral praziquantel 150mg/kgb.wt. Sacrifice was done two days, two, four and six weeks post treatment respectively. It was found that the effect of Ro 15-9268 at the dose of 10mg/kg b.weight was superior to that of 5 mg/kg and praziquantel, with minimal worm and tissue egg load recovery especially two days and two weeks post treatment. A marked drop in the infection-induced risen liver enzymes [serum Aspartate Amino Transferase ASAT and Serum Alanine Amino transferase ALAT], was noted in the group given the 10mg/Kg drug regimen [P<0.001 from respective untreated control mice]. This drop was less salient in the other two treated groups. As regards the serum urea, it reached the lowest level with the high dose regimen at the second and six weeks post treatment respectively [P<0.05 and P<0.01 from respective infected untreated control animals]. Again, a significant drop in serum uric acid and creatinine was recorded in the group given the two dose regimens, as well as praziquantel at all the time intervalls post treatment for serum uric acid and at the 2[nd], 4[th] and sixth week post treatment for serum creatinine [P<0.001 from infected untreated control hamsters]. This drug could be used in endemic areas where resistance to praziquantel starts to be an emerging public health problem

Evaluation of wedge factor measurements for high energy photon treatment field using physical wedge

To evaluate the parameters that affect the wedge factor for physical wedge using 6 and 18 MV photon beams. Measurements were performed for manual wedges 15°, 30°, 45°, and 60° using Varian Linac 6 and 18 MV photon beams at different depths dmax, 5, 10, and 20 cm for square fields 4x4 cm2 to 20x20 cm[2]. Also the measurements were performed for rectangular fields start from 2x4 cm[2] to 20x35 cm[2]. Measurements were taken at two different set up, first of all the source surface distance [SSD] was 100 cm and the second, source axis distance [SAD] was 100 cm. The wedge factors [WFs] were calculated to describe its dependence on the field size, detector type and depth, and wedge position for 6 and 18 MV photon beams. The dependence of wedge factors on field size were less than 1% at 6 MV and 1% at 18 MV x-ray beams for all wedges. For 6 MV using field size 20x20 cm[2] and 45° wedge the wedge factors increased by 2.6% while at 18 MV the dependence of wedge factors on field size reach to 3%. For 6 MV, as the depth increases the wedge factor increases reach to 1.5%, 3.1%, 5.7 and 8.9% for wedge angles 150, 300, 450, and 600 respectively. The detector type and setup were slightly affecting the wedge factor by less than 1.4% for different type of detector with SSD and SAD setup. The difference between wedge factor using In and Out position for wedge angle 60° was 3% and 3.5% for 6 and 18 MV respectively. This study has demonstrated the parameters that affect wedge factor measurements using photon beam. The results show variation in the wedge factor with field size, up to 2.6% and 3% for the 6 and 18 MV respectively. The wedge factor using 6 MV is highly affected by the depth reach to 8.9%. On the other hand the wedge factor for wedge angle 60 was dependent on depth for both energies 6 and 18 MV. The detector type and setup were slightly affecting the wedge factor by less than 1.4%. The difference between wedge factor using In and Out position for wedge angle 60 was 3% and 3.5% for 6 and 18 MV respectively. According to these measurements it seems that the measurement using fixed position of wedge angle and detector at field size 10x10 cm[2] at depth between 5 to 10 cm would represent a good choice for measuring the wedge factor

Effect of reconstruction methods of HDR brachytherapy gynecological applicator on the prescription and reference points

This Paper demonstrate the effect of reconstruction methods on the prescription and reference points for HDR brachytherapy using Fletcher-Suit-Delclos applicator. To evaluate the effect of reconstruction methods on the prescription points for HDR brachytherapy, the gynecological applicator [Fletcher-Suit-Delclos] is used ovoid and different angles in uterine tube. Three different methods of applicator reconstruction were investigated, first reconstruction method was used electronic simulator image as 2 orthogonal pairs of A-P and lateral films. Second reconstruction method was used 150 slice image of CT as manual and automated reconstruction. All applications are used 22 dwell positions as 7 cm tandem contained 14 dwell positions and the ovoids each 4 dwell positions. All dwell positions are separated by 5 mm. The definition of prescription and reference point was related to Manchester technique. From 150 slices image of CT the applicator was reconstructed manually in TPS using 2cm ovoid and different angles in uterine tube. The dose to the prescription points A Rt and Lt were 500 cGy for all angles in uterine tube. While the dose to the reference points B Rt and Lt were slightly changed 137.1, 132.2 cGy, 144.3, 132.1 cGy and 136.2, 135.2 cGy for angles in uterine tube 15°, 30° and 45° respectively. By comparing CT automated and simulator reconstruction data in relation to the CT manual reconstruction the data illustrate that the difference in dose fore point A between manual and automated reconstruction was approximately 0.2, 2.1 and 6% for angles in uterine tubs 15°, 30° and 45° respectively. On the other hand the difference in dose tore point A between manual and simulator reconstruction was approximately 1.3, 4.3 and 8.6% for angles in uterine tube 15°, 30° and 45° respectively. This study has highlighted the effect of reconstruction methods on the prescription and reference points for HDR brachytherapy. While the differences were minimal on the reference point B it becomes highly considerable prescription point A. As the angle of tandem increases the dose to point A is highly dependent in the reconstruction. The difference in dose fore reference point B between manual and automated reconstruction was minimal approximately less than 1% for all angles in uterine tube. Our recomendation is the CT manual reconstruction is the best reconstruction method to reconstruct the applicator and to determine the accurate position of prescription point A and reference point B as will as bladder and rectum for patients

[Superficial fungal infections. Epidemiology, clinical and mycological study over years period]

The object of our study is to release the epidemiological, clinical and mycological characteristics of superficial fugal infections. A retrospective study was carried out during three years [1996-1998]. Direct microscopy was positive in 86% cases, the culture in 62% cases. Trichophyton rubrum accounts for 85% of the dermatophytic flora. The superficial fugal infections account for 15% of the reasons for consultation in our service. They would touch according to data's of literature 2 to 13% of the general population. Trichophyton rubrum in accordance with the various series published, is the fungi most frequently insulated with variable rates between 46 and 82% of the superficial fugal infections. Any time, Candida albicans is prevalent on the level of the hands

Delphi technique: a popular research methodology that straddles the divide between qualitative and quantitative methods

Conventionally the Delphi Technique is a research methodology that uses a series of questionnaires to generate expert opinions in an anonymous fashion to achieve a consensus over a series of iterations [rounds]. Due to multiple modifications of the technique its value as a research method is so controversial. However in essence it is a consensus building technique employed to help enhance effective decision making. Its use as a tool for solving problems in health care settings like in service planning, analysis of professional characteristics and competencies is well recognized with a variety of methodological interpretations and modifications