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Sex chromosome mosaicism results in a large clinical spectrum of disorders of sexual development (DSD). The percentage of 45,X cells in the developing gonad plays a major role in sex determination. However, few reports on the gonadal mosaic status have been published, and the phenotype is usually correlated with peripheral lymphocyte karyotypes, which makes the phenotype prediction imprecise. This study was conducted on 7 Egyptian DSD patients to demonstrate the effect of sex chromosome constitution of both blood lymphocytes and gonadal tissues on the phenotypic manifestations. Conventional cytogenetic and FISH analyses of blood lymphocytes were conducted, and laparoscopy with gonadal biopsy was performed for histopathologic examination and FISH analysis. Gonosomal mosaicism was detected in 3 patients who had a non-mosaic chromosome pattern in blood lymphocytes. Two patients showed the same type of sex chromosome mosaicism in both the blood and gonadal tissues but with different distributions. Two other patients revealed a non-mosaic pattern in both tissues. The present study elucidates the importance of examining sex chromosome mosaicism in gonadal tissues of DSD patients and highlights the critical role of 45,X mosaicism which can lead to serious effects during early gonadal organogenesis. © 2015 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Background: Dysphagia is an important complication of acute stroke. Aspiration pneumonia is the most important acute complication of stroke related dysphagia. Objective: To estimate the frequency and risk factors of pneumonia in acute stroke patients fed by nasogastric tube. Methods: This prospective study was done on 50 consecutive patients with acute stroke who were given tube feeding because of dysphagia. The study was done in Zagazig university hospitals, over one year period (Sept 2012 to Sept 2013). All patients were assessed daily for the presence pneumonia. Results: Pneumonia was diagnosed in 44% of the tube fed patients. As measured by the NIHSS score, patients who acquired pneumonia, were more severely affected than patients without pneumonia. Patients with decreased consciousness and severe facial palsy are at high risk of pneumonia. Conclusions: Decreased consciousness and severe facial palsy are risk factors for development of post-stroke pneumonia. [ABSTRACT FROM AUTHOR]

This study was carried out to figure out the potentiality of a cytochrome b gene as a barcoding tool in discriminating native chicken strains and other Gallus gallus species. We performed PCR amplification using universal primer to amplify around 415 bp fragment of cytochrome b gene of mtDNA. The results revealed that all Saudi chicken strains were identical to each other but when compared with other species of Gallus the differences were exciting. The phylogenetic tree revealed that there were seven clusters represented for native strains and were clustered together especially in black strain and dark brown ones. The results have confirmed that using cytochrome b gene to discriminate between Saudi chicken strains and other species of G. gallus fowl was a very sufficient tool. Moreover, we can consider short fragment of cytochrome b gene of mtDNA as a universal DNA barcode region. It was a much more accurate and efficient tool to discriminate interspecies than intraspecies. We think it needs more studies to confirm this concept, and we have to apply that tool for many species of vertebrate and invertebrate as well. [ABSTRACT FROM AUTHOR]

SSDSDD [ABSTRACT FROM AUTHOR]

Background: Rib fractures are very common and are detected in at least 10% of all injured patients, the majority of which are because of blunt thoracic trauma with road traffic collisions being the main cause. Pain management of the acutely injured patient with rib fractures can be difficult for even the most experienced emergency physician. Objective: To evaluate the safety and efficacy of serratus anterior muscle plane block as a regional analgesic technique performed in patient with fracture ribs. Patients and Methods: Randomized, controlled study was carried out in Department of Anesthesia and Intensive Care Unit, Sohag University Hospital. Forty patients with lateral multiple rib fractures were included in this study. All patients were suffering from excruciating pain and were not responding to conventional analgesics. The patients were randomly assigned into two groups, 20 patients each. Group A, for whom serratus anterior plane block (SAP) was done and Group B, for IV morphine infusion. Results: In Group A, the mean pain score decreased from 9.1 ± 0.7 to 0.6 ± 0.7 after intervention. In group B, the mean pain score improved from 9.3 ± 0.8 to 1.15 ± 0.8 after IV morphine infusion. Pain scores gradually decreased. There were no significant difference between the two groups when the other trauma surveys were compared. Conclusion: Ultrasound guided Serratus Anterior Plane block is an effective technique for providing analgesia in patients with anterior and lateral rib fractures with fewer risks of complications. [ABSTRACT FROM AUTHOR]

Background: First described paravertebral block (PVB) to provide abdominal analgesia in 1905. This technique has been modified for rib fracturing, flail chest, hepatic-biliary operations, open cholecystectomy, inguinal hernia repair, breast tumors operations and thoracotomies. PVB was shown to be as successful as thoracic epidural analgesia with less minimal complications in recent systematic reviews and meta-analyses. Objective: To evaluate the effect of paravertebral block and Thoracotomy to the other technique in issues analgesia, complications. Conclusion: Paravertebral block is a very useful regional anaesthetic technique for surgeries, Paravertebral block was shown to be as successful as thoracic epidural analgesia with less minimal complications. [ABSTRACT FROM AUTHOR]

Background: Reconstruction of soft tissue defects overlying the Achilles tendon has always been a challenge. Various modalities of reconstruction have been described to resurface such defects. We aimed to assess the functional and cosmetic outcomes of all patients who had undergone reconstruction of small and medium sized soft tissue defects of the Achilles region using local fasciocutaneous island flaps., Methods: This retrospective study was conducted from January 2020 to June 2022. 15 patients with small (≤ 30 cm 2 ) and medium (30-90 cm 2 ) sized soft tissue defects of the tendo-Achilles region, underwent reconstruction with local fasciocutaneous island flaps and had complete medical records, were included., Results: Thirteen patients were male (86.7%). The mean age was 53.2 years. 5 cases (33.3%) had post-traumatic open AT injuries with skin avulsion, while ten patients (66.7%) had suture line complications after open repair of spontaneous Achilles tendon rupture. Defect sizes ranged from 12 to 63 cm2. Reverse sural flap was used in 5 patients (33.3%) and medial plantar flap in 10 patients (66.7%). All flaps survived completely. Complications were detected in 3 patients (20%); 1 distal superficial necrosis in a sural flap and 2 marginal minimal graft loss. Functional outcome was good in 12 patients (80%), excellent in 1 patient (6.7%) and fair in 2 patients (13.3%). 13 patients (86.7%) were satisfied with the cosmetic results., Conclusion: Local fasciocutenous island flaps are reliable and simple solutions for covering small to moderate soft tissue defects overlying the Achilles Tendon, with acceptable functional and cosmetic outcomes., Competing Interests: The authors declare that there is no conflict of interests.

Background: We aimed to review the treatment and outcome of patients' undergone reconstruction of large full thickness scalp defects with exposed calvarium after oncologic resection with the combined local flap and split-thickness skin graft (STSG) technique., Methods: A retrospective review of 45 patients with scalp defects secondary to tumor extirpation was performed at the Plastic Surgery Department, Tanta University Hospital, Tanta, Egypt from Nov 2016 to Nov 2019. Patients, with large (>50 cm2) and full-thickness (exposed calvarium) scalp defects, who underwent scalp reconstruction with the combined local flap and STSG technique and had completed their medical records were enrolled., Results: Only 38 met the inclusion criteria. Thirty-three were male (86.8). The mean age was 61.5 years. The lesions removed were BCC in 30 cases (78.9%) and SCC in 8 cases (21.1%). Defect sizes ranged from 55 to 196 cm2. There was complete survival of all flaps. Complications were noticed in 5 patients (13.2%);2 developed small hematomas, 2 suffered from partial graft losses and one had wound infection. The follow-up period ranged from 6 to 27 months. Overall, 34 patients were satisfied with the functional and cosmetic results (89.5%), while 4 female patients weren't satisfied with the esthetic results (10.5%)., Conclusion: The combination of local flap and skin graft technique is highly reliable, easy to perform and safe single-stage reconstructive modality of large skull exposed scalp defects, providing durable coverage and favorable esthetic outcome.

Background: Acute lymphoblastic leukemia (ALL) is the most common cancer diagnosed in children and represents approximately 25% of cancer diagnoses among those younger than 15 years of age., Aim and Objectives: This study investigated substitutions in the ATP synthase subunit 6 gene of mitochondrial DNA (mtDNA) as a potential diagnostic biomarker for early detection and diagnosis of acute lymphoblastic leukemia. Based on mtDNA from 23 subjects diagnosed with acute lymphoblastic leukemia, approximately 465 bp of the ATP synthase subunit 6 gene were amplified and sequenced., Results: The sequencing revealed thirty-one mutations at 14 locations in ATP synthase subunit 6 of mtDNA in the ALL subjects. All were identified as single nucleotide polymorphisms (SNPs) with a homoplasmic pattern. The mutations were distributed between males and females. Novel haplotypes were identified in this investigation: haplotype (G) was recorded in 34% in diagnosed subjects; the second haplotype was (C) with frequency of 13% in ALL subjects. Neither of these were observed in control samples., Conclusions: These haplotypes were identified for the first time in acute lymphoblastic leukemia patients. Five mutations able to change amino acid synthesis for the ATP synthase subunit 6 were associated with acute lymphoblastic leukemia. This investigation could be used to provide an overview of incidence frequency of acute lyphoblastic leukemia (ALL) in Saudi patients based on molecular events.

Background: Risk stratification in acute coronary syndrome (ACS) aims to identify those patients who might benefit prognostically from further investigation and treatment. In addition, risk stratification models have been used by health authorities and hospitals in quality management activities., Aim: The present study aimed at validating the Thrombolysis In Myocardial Infarction (TIMI) and The Global Registry of Acute Coronary Events (GRACE) risk scores for prediction of mortality in patients with ACS in Alexandria governorate. In addition, the study aimed also at using one of the validated risk scores to compare risk adjusted mortality among participating hospitals., Material and Methods: The study was conducted at hospitals belonging to 3 different health care organizations in Alexandria. All admitted patients with the diagnosis of ACS throughout a period of 6 months were included in the study (n=606). Discriminatory capacity and calibration of the TIMI and GRACE risk scores for detection of in-hospital mortality and mortality within six months of index admission were assessed., Results: The study showed that both TIMI and GRACE risk scores had high c statistics of 0.70 or higher. GRACE scores showed equal or higher c statistics than TIMI scores denoting better discriminatory capacity. TIMI risk score showed good calibration while GRACE risk score showed lower calibration capacity with certain patient categories. The GRACE risk score was used to calculate the standardized in-hospital mortality ratio which was higher than 1 for all participating hospitals indicating higher than expected mortality for ACS patients in these hospitals., Conclusions and Recommendations: GRACE risk score showed good discriminatory capacity, suggesting that it is suitable for clinical use among ACS patients in Alexandria governorate. It was recommended to use GRACE risk score for risk adjustment in quality management activities.