novel variant in the endothelin-converting enzyme-like 1 [ECEL1] gene in an Emirati child

Objective: The aim of this work was to report a case of an Emirati child who presented with developmental delay and multiple congenital abnormalities that are consistent with distal arthrogryposis type 5D

Clinical Presentation and Intervention: The clinical presentation comprised contractures of the shoulders, elbows, and knees in addition to camptodactyly and neck pterygium. The facial dysmorphic features noted include ptosis and microretrognathia. Importantly, left orchidopexy was also observed and corrected surgically. Whole exome sequencing revealed that the patient is homozygous for the novel c.1184+1G>T variant in endothelin-converting enzyme-like 1 [ECEL1]

Conclusion: This is a case of a novel homozygous splice site mutation in the ECEL1 gene in a child with a phenotype consistent with distal arthrogryposis type 5D. The child was born to consanguineous Emirati parents heterozygous for the novel ECEL1 mutation

Marinesco-sjogren syndrome in an Emirati child with a novel mutation in SIL1 affecting the 5' untranslated region

Objective: The aim of this study was to report clinical and molecular findings in an Emirati child with Marinesco-Sjogren syndrome born to consanguineous parents

Clinical Presentation and Intervention: The child presented with developmental delay, ataxia, bilateral cataracts, and dysmorphic craniofacial features, along with cerebellar atrophy. Sequencing of the SIL1 gene revealed a novel homozygous large indel mutation that was predicted to abrogate part of the 5' untranslated region [UTR] and the first 30 amino acids of the protein

Conclusion: This was a case of mutation in SIL1 that affected the 5' UTR, translation initiation site and the endoplasmic reticulum-targeting signal sequence. Further studies will be needed on the functional delineation of the mutation. aracts, and intellectual disability [1] . Although these are the main symptoms, there are a range of other clinical features associated with this condition in some families, including hypogonadotropic hypogonadism, skeletal abnormalities, and microcephaly [2]. The only gene known so far to be associated with MSS, SIL1, was discovered by two independent teams simultaneously [2, 3]. SIL1 plays a vital role in the translocation of proteins into the endoplasmic reticulum [ER]. Studies in mouse models have shown a function for SIL1 as a nucleotide exchange factor for the ER chaperone protein BiP, as well as in ER stressinduced apoptotic signaling and the ER-associated degradation [ERAD] pathway, again via its interaction with BiP [4, 5] . Hence, we report a consanguineous Emirati family affected with MSS with a novel mutation in the SIL1 gene

Role of fluorescence in situ hybridization in the diagnosis of malignant biliary stricture

Introduction: Biliary stricture is a fixed narrowing of a focal segment of the bile duct that result in proximal biliary dilatation and clinical features of obstructive jaundice. A wide spectrum of hepatobiliary and pancreatic diseases, both benign and malignant, can result in the development of biliary strictures. Although trans abdominal ultrasound, computed tomography, and magnetic resonance imaging are sensitive for detecting bile duct pathology, they do not reliably distinguish strictures as being malignant or benign. FISH utilizes fluorescently labeled DNA probes to chromosomal centromeres or unique loci to detect cells that have numerical or structural abnormalities indicative of malignancy

Aim of the study: To evaluate the accuracy of FISH in the diagnosis of malignant biliary stricture

Patient and methods: Forty eight patients with indeterminate bile duct stricture presented with obstructive jaundice were prospectively enrolled and underwent ERCP and FISH over a period of 20 month from June 2013 to February 2015. Four patients were excluded because of loss follow-up. Thus, 44 patients were included in data analysis [17 males and 27 females]

Results: The final diagnosis of stricture type was 32 malignant and 12 benign cases. FISH was positive in 30 cases and negative in 14 cases, sensitivity, specificity, positive predictive value, negative predictive value, and accuracy were 93.75, 100.00, 100.0, 85.7, 95.5 and 0.969 respectively

Conclusion: FISH increase the diagnostic accuracy of malignant biliary stricture. The sensitivity of FISH could improve the clinical management of patients being evaluated for malignant bile duct stricture by enabling a definitive diagnosis at an earlier stage in the clinical evaluation

Spontaneous viral clearance of chronic HCV infection in Upper Egypt: a community-based study with a 10 year follow-up

Hepatitis C virus [HCV] infection is a global blood-borne disease with the highest prevalence in Egypt. The natural course of HCV infections in highly variable. The reason why the infection persists in some patients and resolves spontaneously in others is not known. The aim of this study was to detect the frequency of spontaneous clearance of chronic HCV infection in Upper Egypt and to determine the predictors of persistence of HCV infection. In 1997, a community-based study was performed in Sallam village in Upper Egypt. Out of the 329 patients who had the start of the study and those who had received specific treatment for HCV infection. These patients were followed up every six months prospectively starting from 2004 till 2007 by clinical, ultrasonographic, and laboratory examinations [liver functions, complete blood count, prothrombin time and concentration]. Serum HCV-RNA was tested for at the end of the follow up period. After a 10-year follow-up, spontaneous clearance of chronic HCV infection was detected in 35 [17.5%] out of 200 patients. Most of clinical and laboratory abnormalities were detected in patients with HCV-RNA persistence than those who had cleared HCV-RNA. By ultrasonographic examination, normal liver echopattern was found in 30 [85.7%] cases with HCV-RNA clearance and in75 [45.5%] patients who had HCV-RNA persistence. Evidence of liver cirrhosis was found only in 9 cases with HCV-RNA persistence [5.5%]. Old age [>60 years] was the strongest predictor of persistence of HCV infection followed by obesity and history of blood transfusion. Spontaneous clearance of chronic HCV infection could occur without any specific antiviral therapy in 17.5% of patients. Older age was the strongest predictor of persistence of HCV infection followed by obesity and infection by blood transfusion

Distinguish between vital and postmortem skin wounds by using serum biochemical and enzyme-histochemical markers in adult albino rats

The diagnosis of vital origin of wounds in many cases remains as an unsolved problem for the forensic pathologist. Practical experience enables the expert to diagnose the vital or postmortem origin of wounds on the bases of macroscopic examination or microscopic examination. In some cases another more sensitive and specific markers of vitality are required as using biochemical markers such as vasoactive amines [histamine and serotonin] and enzyme-histochemical marker such as alkaline phosphatase activity for diagnosis of woun4 vitality. Therefore the aim of the present study is to distinguish between vital and; post mortem skin wounds in experimental animals by using histochemical and biochemical markers. One hundred and twenty adult male albino rats were used, they were divided equally into 2 groups: 1- The first group was injured in the skin by scalpel after being anaesthetized. 2- The second group was killed and then injured in the skin by the same pattern as the first group. Blood was collected from all groups through a period of [0.5, 1, 1.5, 2, 2.5 and 3] hours after infliction of wound and the level of histamine and serotonin was determined by spectrophotometric method. Specimens from normal skin and injured skin from all groups were taken through a period of [1, 2, 3, 4, 5 and 6] hours after infliction of wound and subjected to histochemical study by using the azo dye coupling method for determination of alkaline phosphatase activity

Results: vital wound showed significant increase in biochemical markers "histamine and serotonin" P < 0.01 with increase in the activity of alkaline phosphatase enzyme in comparison with postmortem wound

Hepatotoxicity, nephrotoxicity and haematological effects of cyclophosphamide in albino rats

Since cyclophosphamide are widely used in the treatment of acute and chronic lymphoblastic leukaemias, Hodgkin's disease, carcinoma of breast, ovary and other malignancies, it was the aim of the present study to shed light on hepatotoxic, nephrotoxic and haematological effects of cyclophosphamide. Hemoglobin concentration, haematocrit value, red blood cell count, serum levels of urea, creatinine, alanine amino transferase [ALT], aspartate amino transferase [AST] and alkaline phosphatase were detected after exposure of 30 rats to cyclophosphamide at a dose of 4.7 mg/kg/ day for two months, then Rats were Sacrificed and hepatic and renal tissues were examined by electron microscope. The results show significant decrease in RBCs count, decrease in hemoglobin concentration and haematocrit value with significant affection of ultrastructure in hepatic and renal tissues with increase in liver and renal enzymes

Effect of breathing exercise and relaxation techniques on the progress of labour and newborn condition at Assiut University Hospital

Forty mothers were included in this study and were admitted for normal labor at full term of pregnancy in the first stage of labor with no complication and baby with no associated diseases. Twenty of them received the experimental combining breathing exercise and relaxation techniques. The other 20 mothers were managed as a control group receiving only the routine nursing care during labor. Two tools were designed specifically to collect data: First tool is a special interview sheet for mothers and second tool is an observation sheet for both mothers and newborns. Breathing exercise and relaxation techniques according to Reads methods were applied for each mother individually for about 16 times during labor and each time take about 5 minutes. The results revealed effectiveness of breathing exercise and relaxation techniques on improvement of progress of labor and newborn Apgar scoring. The present study recommended that breathing exercise and relaxation techniques should be integrated to the nursing practices of antenatal care and early in first stage of labor to be benefit for both mothers and babies