Comparison of Nd: YAG Laser and Combined Intense Pulsed Light and Radiofrequency in the Treatment of Hypertrophic Scars: A Prospective Clinico-Histopathological Study.

INTRODUCTION: Hypertrophic scars are fibroproliferative disorders, seen after burn, trauma, and/or surgery. We aimed to compare the clinical and histopathological results of 1064-nm Nd:YAG laser and combined intense pulsed light and radiofrequency in the treatment of hypertrophic scars. METHODS: Fifty patients with hypertrophic scars were included in this prospective, randomized study. Twenty-five patients were treated with Nd:YAG laser and 25 patients with combined intense pulsed light and radiofrequency (E-light). The scars were evaluated at baseline, during and at 3 months after the final treatment session using the Vancouver scar scale. Biopsy specimens from scars were obtained before, during, and 3 months after the final treatment session and were stained with hematoxylin and eosin stain, Masson's trichrome stain, and immunostaining procedures for collagen I, collagen III, and TGF-ß1. RESULTS: Significant improvements in the total Vancouver scar scale scores before and after the treatment in both groups (P < 0.001); however, a significant difference between both groups (P < 0.001), regarding the E-light, which showed better response than Nd:YAG laser. Hematoxylin and eosin and Masson's trichrome staining showed arrangement and thinning of collagen bundles and reduction in collagen density by in both groups, but the collagen bundles thinning and parallelism were more obvious in the E-light group. Significant decrease in the concentration of collagen I, collagen III, and TGF-ß1 in the E-light group as compared with the laser group (P = 0.005, P = 0.003 and P < 0.001, respectively). CONCLUSIONS: Both modalities were successful in the treatment of hypertrophic scars; however, a significant improvement in the clinical and histopathological findings was detected with the E-light method.

Teres major transfer to restore external rotation of shoulder in Erb palsy patients.

BACKGROUND: The lack of external rotation and shoulder abduction as sequelae of obstetric brachial plexus palsy requires a release of the subscapularis muscle associated with tendon transfer of the internal rotator of the shoulder. The aim of this study was to present the results of a teres major transfer to the infraspinatus tendon. METHODS: This study included 20 patients (9 boys and 11 girls) with a mean age of 3 years 8 months (range, 1.5-14 years). The average follow-up time was 42 months (range, 12-48 months) to determine whether external rotation weakness and internal rotation contracture sequelae were managed by anterior release of the subscapularis and teres major tendon transfer to the infraspinatus tendon. RESULTS: We found marked improvement in shoulder abduction from 67° before surgery to 158° after surgery. We also found marked improvements in active external rotation from 8° before surgery to 85° after surgery and in passive external rotation from 0° preoperatively to 72° postoperatively. Two cases showed a loss of the last degrees of internal rotation, but this improved after physiotherapy. CONCLUSIONS: Anterior release of the subscapularis tendon with a teres major transfer to the infraspinatus tendon significantly improves shoulder function in Erb palsy patients with internal rotation contracture.

Foot and Ankle Reconstruction Using the Distally Based Sural Artery Flap Versus the Medial Plantar Flap: A Comparative Study.

Soft tissue defects around the foot and ankle region often present an awkward problem for plastic surgeons. The medial plantar artery flap raised from the non-weightbearing instep of the plantar foot offers a thick, sensorial, durable, and glabrous skin. The reversed sural artery flap offers a reliable option for coverage with the advantages of a wide arc of rotation, adequate dimensions, and a reliable blood supply. The present study compared the outcomes of the medial plantar artery flap and the distally based sural artery flap in foot and ankle reconstruction. The present comparative cross-sectional study included 30 adult patients with soft tissue defects in the foot and around the ankle, who were divided into 2 equal groups. One group underwent reconstruction with the proximally based island medial plantar artery flap (MPAF). The second group underwent reconstruction with the reversed sural artery flap (RSAF). The operative time and complications were carefully recorded. The surgical outcomes in terms of flap survival, durability of coverage, and functional outcome were assessed for all patients. No significant differences were found between the 2 groups in age, sex, etiology, or site of the defect. The defect size was significantly smaller in the MPAF group than in the RSAF group (22 ± 2.7 cm2 versus 66.2 ± 7.7 cm2; p < .001). However, the operative time was significantly longer in the MPAF group than in the RSAF group (100 ± 2.9 minutes versus 80.5 ± 3.1 minutes; p < .001). The flap survived in all cases in the MPAF group, but total flap necrosis occurred in 1 patient in the RSAF group. The mean follow-up period was 13.2 months. Weightbearing was significantly earlier in the MPAF group than in the RSAF group (5.8 ± 0.26 weeks versus 6.9 ± 0.19 weeks; p = .003). None of the 30 patients developed recurrent ulceration. The incidence of complications (33.3% versus 80%) was significantly less in the MPAF group than in the RSAF group (p = .01). Significantly greater improvement was found in the functional outcomes in the MPAF group compared with the RSAF group (p = .004). In conclusion, the MPAF and distally based sural artery flap are the 2 flaps available for foot and ankle reconstruction. However, the MPAF offers better functional outcomes with a lower frequency of postoperative complications. Thus, the sensate MPAF is recommended for reconstruction of moderate-size defects of the foot and ankle region.

Intellectual disability secondary to a 16p13 duplication in a 1;16 translocation. Extended phenotype in a four-generation family.

We describe a large family from the Gaza Strip presented with multiple congenital anomalies. The proband was presented with intellectual disability and multiple congenital anomalies including cleft palate, low-set ears, everted upper lip, diaphragmatic hernia, and arthrogryposis. Pedigree analysis showed 19 affected patients over five generations, only 6 were alive and 11 individuals were obligate carriers. The proband had an apparently normal karyotype, although FISH studies showed a derivative chromosome 1 with duplication of 16p13.3 and deletion of the 1p subtelomere. Her father however had a balanced translocation. The seven affected patients had a similar phenotype, one of them died before genetic testing was carried out and the living six patients had the same unbalanced translocation. Array CGH revealed an 8.8 Mb duplication in 16p13 and 200,338 bp deletion in 1p36.3. Accordingly, intellectual disability, hypertelorism, cupped ears, everted upper lip, and limb anomalies were presenting clinical features of the 16p13 duplication syndrome while deep set eyes were perhaps related to the 1p terminal deletion. Prevention of recurrent intellectual disability in this family can be achieved through carrier detection and prenatal genetic diagnosis.

Versatility of Local Fasciocutaneous Island Flaps for Resurfacing Soft Tissue Defects Overlying the Achilles Tendon.

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 cm2) and medium (30-90 cm2) 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.

Growth curves of Egyptian patients with Turner syndrome.

This study analyzes the body anthropometric measurements in females with Turner syndrome (TS) not treated with recombinant human growth hormone. Height, weight, head circumference, and body mass index (BMI) data were collected from 93 patients. Their ages ranged from 6 months to 24 years (mean 10 ± 4.3 years). Chromosomal analysis revealed: 55 patients with 45,X and 38 patients with mosaic karyotypes. Patients were divided into yearly age groups. Standard growth curves were constructed for these Egyptian Turner syndrome (TS) patients. Mean and standard deviations were estimated across the age groups. When comparing the mean heights of patients to the Egyptian standards, short stature (≤2 SD) was found in 96.8% of patients older than 6 years. Patients' mean weight and BMI were higher than controls. The mean height of the studied Egyptian patients was slightly lower than that of females with TS in UK and European patients. Therefore, local reference values are more appropriate than International standards. The charts presented here can be used to optimize routine healthcare for Egyptian TS patients. The use of growth charts specific for Egyptian TS patients can help to discover early physical developmental delay and suggests the necessity of looking for concomitant diseases affecting growth.

Advanced procedures for labeling of antibodies with quantum dots.

Semiconductor quantum dots (QDs) are proved to be unique fluorescent labels providing excellent possibilities for high-throughput detection and diagnostics. To explore in full QDs' advantages in brightness, photostability, large Stokes shift, and tunability by size fluorescence emission, they should be rendered stable in biological fluids and tagged with the target-specific capture molecules. Ideal QD-based nanoprobes should not exceed 15nm in diameter and should contain on their surface multiple copies of homogeneously oriented highly active affinity molecules, for example, antibodies (Abs). Direct conjugation of QDs with the Abs through cross-linking of QDs' amines with the sulfhydryl groups issued from the reduced Abs' disulfide bonds is the common technique. However, this procedure often generates conjugates in which the number of functionally active Abs on the surface of QDs does not always conform to expectations and is often low. Here we have developed an advanced procedure with the optimized critical steps of Ab reduction, affinity purification, and QD-Ab conjugation. We succeeded in reducing the Abs in such a way that the reduction reaction yields highly functional, partially cleaved, 75-kDa heavy-light Ab fragments. Affinity purification of these Ab fragments followed by their tagging with the QDs generates QD-Ab conjugates with largely improved functionality compared with those produced according to the standard procedures. The developed approach can be extended to conjugation of any type of Ab with different semiconductor, noble metal, or magnetic nanocrystals.

Single Stage Reconstruction of Large Calvarial Exposure after Tumor Resection: A 3-Year Experience.

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.

Intralesional pentoxifylline, triamcinolone acetonide, and their combination for treatment of keloid scars.

BACKGROUND: Keloids are common fibroproliferative tumors, and their treatment still represents a dilemma. Intralesional triamcinolone acetonide (TAC) injection is effective, but frequently associated with side effects. Pentoxifyllin (PTX) is a vasodilator, anti-inflammatory, and antifibrotic agent. Its intralesional injection in keloids has not been evaluated yet. AIMS: Evaluating the efficacy and safety of intralesional PTX versus intralesional TAC and their combination for treatment of keloids. PATIENTS/METHODS: Thirty patients with keloids were divided into three equal groups and treated by intralesional injection of TAC, PTX, or their combination (admixed in 1:1 ratio). Injections were repeated every 3 weeks until lesional flattening or for maximum of 5 sessions. The evaluation was done using the Vancouver Scar Scale and the Verbal Rating Scale for pain and itching. RESULTS: A significant improvement in VSS was detected in all groups. Significantly better improvements in keloid height, pliability, pain, and itching were detected in the TAC and combination groups than in the PTX group. There was a significantly higher incidence of side effects (atrophy, hypopigmentation, telangiectasia, and precipitation of TAC) in the TAC group than in the combination group, while no side effects were reported in the PTX group. A statistically significant reduction in the number of treatment sessions (required to achieve best results) was detected in patients in the combination group. CONCLUSIONS: Intralesional injection of PTX is a potentially helpful, safe, and well-tolerated therapeutic tool for keloids, but with lower efficacy than intralesional TAC when used solely. Combining PTX and TAC produces significantly better results for keloid treatment and lowers the risk of TAC-induced side effects.

Emerging applications of fluorescent nanocrystals quantum dots for micrometastases detection.

The occurrence of metastases is one of the main causes of death in many cancers and the main cause of death for breast cancer patients. Micrometastases of disseminated tumour cells and circulating tumour cells are present in more than 30% of breast cancer patients without any clinical or even histopathological signs of metastasis. Low abundance of these cell types in clinical diagnostic material dictates the necessity of their enrichment prior to reliable detection. Current micrometastases detection techniques are based on immunocytochemical and molecular methods suffering from low efficiency of tumour cells enrichment and observer-dependent interpretation. The use of highly fluorescent semiconductor nanocrystals, also known as "quantum dots" and nanocrystal-encoded microbeads tagged with a wide panel of antibodies against specific tumour markers offers unique possibilities for ultra-sensitive micrometastases detection in patients' serum and tissues. The nanoparticle-based diagnostics provides an opportunity for highly sensitive parallel quantification of specific proteins in a rapid and low-cost method, thereby providing a link between the primary tumour and the micrometastases for early diagnosis.

Validation of TIMI and GRACE acute coronary risk scores in Alexandria Governorate and their role in the comparison of quality of care between hospitals.

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.

Modified Stoppa as an alternative surgical approach for fixation of anterior fracture acetabulum: a randomized control clinical trial.

BACKGROUND: Fracture acetabulum is a challenging, difficult to treat orthopedic injury due to its location and associated concomitant injuries. The modified Stoppa approach for reduction of fracture acetabulum improves access to quadrilateral surface and posterior column and is considered to be advantageous in many facets of the surgery. METHODS: A randomized controlled clinical study was conducted to provide an update on our experience with modified Stoppa as a favorable surgical approach in acetabular fractures. In the period between 2015 and 2017; 18 patients with acetabular fractures operated by the classical ilioinguinal approach were retrospectively reviewed through their medical records as a controlled group and selected 20 patients with acetabular fractures were operated in the period between 2017 and 2019 using the modified Stoppa approach, as a clinical case group. The two groups were compared regarding operative data and postoperative clinical data, complications, and follow up. Cases were operated in Al Zahraa University Hospital and Nasr City Insurance Hospital by the same surgeon and one of the co-authors. RESULTS: (Group A) those operated by ilioinguinal approach and (Group B) those operated using Stoppa approach. The whole study included 25 males (66%); mean age was 41.8 ± 8.42 (range 18-65) years. The mean follow-up period was 18.5 months with 5 patients lost to follow-up. Both column fractures were observed in most of the patients (45%). We observed anatomical reduction, excellent clinical outcome scores in 75% of patients of group B (p = 0.030), and less complications. CONCLUSION: Our findings indicated that the modified Stoppa approach is the most convenient approach when surgery is required and achieved favorable results in the treatment of anterior acetabular fractures because it improves visualization in lateral compression injuries and allows treatment of both column fractures with single incision. Hence, it is recommended as an alternative to ilioinguinal approach in developing countries. Further, larger-scale comparative studies of the two surgical modalities for different acetabular fracture types and long-term complications are recommended. TRIAL REGISTRATION: A retrospective registration is proceeding through Clinicaltrials.gov. LEVEL OF EVIDENCE: Level III, therapeutic clinical study.

Short-Segment Fixation of Thoracolumbar Fractures with Incorporated Screws at the Level of Fracture.

OBJECTIVE: To evaluate the effect of including the fractured vertebra in the short-segment fixation of thoracolumbar (TL) fractures. METHODS: A total of 32 patients with thoraco-lumbar fractures, selected between August 2013 and February 2016, were managed by short-segment fixation with screws at the level of the fracture, and decompression was performed only for patients with neurological deficits. The patients' functional outcome was assessed using the visual analogue scale (VAS) score for pain and the American Spinal Injury Association (ASIA) score for neurological condition. All patients were followed up with radiographs. RESULTS: Patients with complete neurologic deficits (n = 3) did not show any neurologic recovery. All ASIA B patients improved to ASIA C. Five ASIA C patients improved to ASIA E. The remaining five ASIA C patients improved to ASIA D. All ASIA D patients improved to ASIA B. At the final follow-up examination, the mean anterior vertebral height was 21 ± 5 mm, indicating no significant height loss during the follow-up period. CONCLUSION: Short-segment fixation of TL fractures with inclusion of the fracture level into the construct offers good correction of segmental kyphosis, vertebral wedging, and vertebral height loss.

Ulnar Nerve Injuries (Sunderland Grade V): A Simplified Classification System and Treatment Algorithm.

This study introduced a novel technical approach to the ulnar nerve injuries. The ulnar nerve was divided into 4 distinct surgical zones, each mandating a unique management strategy. METHODS: A prospective observational study was conducted to verify the hypothesized algorithm. The study included 110 patients diagnosed with ulnar nerve injury (Sunderland grade 5). We divided the patients into 4 groups depending on the site of injury. Each group of patients was managed in accordance with a particular strategy, exploiting nerve transfer techniques along with the updated knowledge of the internal topography of the ulnar nerve. The motor recovery of the small muscles of the hand was assessed after 2 years of follow-up, using the disabilities of the arm, shoulder, and hand score, and other parameters including key pinch strength, hand grip strength, and the motor power of the first dorsal interosseous muscle on the Medical Research Council scale. RESULTS: The mean values of the disabilities of the arm, shoulder, and hand score, key pinch strength, and hand grip strength showed a statistically significant improvement across all patient groups (P < 0.05). Of those with zone (I) injury, postoperatively, 79.9% patients attained a first dorsal interosseous muscle power grade >3 on the Medical Research Council scale, while 93.9% of patients with zone (II) damage achieved the same result. Surprisingly, 84% of patients included in both zones (III) and (IV) also recovered to the same extent. CONCLUSIONS: This prospective observational study examined and successfully confirmed the validity of our proposed novel algorithm for the management of ulnar nerve injuries (Sunderland grade 5).

Outcome of Thumb Reconstruction Using the First Dorsal Metacarpal Artery Island Flap.

BACKGROUND: Reconstruction of complex soft tissue defects of the thumb, with exposure of tendons, joints or bones, has always been a difficult task. We evaluated the functional and esthetic outcomes of 1st dorsal metacarpal artery island flap in reconstruction of post-traumatic soft tissue defects of the thumb. METHODS: Between January 2012 and June 2014, fifteen patients with complex post-traumatic soft tissue thumb defects underwent 1st dorsal metacarpal artery island flap. Sensory function was evaluated with static 2-point discrimination and cortical reorientation. The mobility of the thumb was tested by the Kapandji score. The esthetic outcome was assessed. Patient's subjective satisfaction was evaluated by the visual analogue scale. RESULTS: The mean flap size was 33.3×17.7 mm. All donor sites were grafted by full-thickness skin grafts from the groin. Fourteen flaps survived completely and one had distal flap necrosis was treated conservatively. The mean static two-point discrimination was 10.4 mm. Cortical reorientation was complete in 40%. The average Kapandji score was 7.1. The esthetic outcome was excellent in six, good in eight and poor in one subject. After a mean follow up period of 18.2 months, the mean subjective satisfaction score was 8.1; most patients regained all functions of the thumb and index finger and were pleased with the cosmetic appearance of the flap and donor site. CONCLUSION: First dorsal metacarpal artery flap offers a sensate, pliable and versatile coverage for small to moderate sized thumb defects. Moreover, it provides good functional and esthetic outcomes with minimal donor site morbidity.

The Impact of Silver Nanoparticles Produced by Bacillus pumilus As Antimicrobial and Nematicide.

This study evaluates the potential application of silver nanoparticles (AgNPs) as antimicrobial or nematicidal agents produced by the extremophile Bacillus pumilus, which was isolated from the alkaline Wadi El-Natrun Lake in Egypt. The AgNPs were characterized by ultraviolet-visible absorption spectroscopy, transmission electron microscopy, and energy dispersive x-ray spectroscopy. The size of AgNPs formed ranged from 20.12 to 29.48 nm. Panagrellus redivivus was exposed to different concentrations (0, 50, 100, 150, and 200 µg/mL) of AgNPs in a 5 mL nematode suspension (1 × 103 mL-1). The best result occurred at AgNP concentrations of 150 and 200 µg/mL, with death rates of 80 and 91%, respectively, following 48 h of exposure. AgNPs also exhibited potent antimicrobial properties when using Gram-negative and Gram-positive human pathogens, with MIC and MBC values of 5 and 10 µg/mL, respectively. These laboratory assays prove that biologically synthesized AgNPs are an ecofriendly material that can be used in lieu of solvents or toxic chemicals.

Methylenetetrahydrofolate reductase gene polymorphisms in Egyptian Turner Syndrome patients.

BACKGROUND: Folate metabolism dysfunctions can result in DNA hypomethylation and abnormal chromosome segregation. Two common polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) encoding gene (C677T and A1298C) reduce MTHFR activity, but when associated with aneuploidy, the results are conflicting. Turner Syndrome (TS) is an interesting model for investigating the association between MTHFR gene polymorphisms and nondisjunction because of the high frequency of chromosomal mosaicism in this syndrome. OBJECTIVE: To investigate the association of MTHFR gene C677T and A1298C polymorphisms in TS patients and their mothers and to correlate these polymorphisms with maternal risk of TS offspring. SUBJECTS AND METHODS: MTHFR C677T and A1298C polymorphisms were genotyped in 33 TS patients, their mothers and 15 healthy females with their mothers as controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and sequencing technique. RESULTS: Genotype and allele frequencies of both C677T and A1298C were not significantly different between TS cases and controls. There were no significant differences in C677T genotype distribution between the TS mothers and controls (p=1). The MTHFR 1298AA and 1298AC genotypes were significantly increased in TS mothers Vs. control mothers (p=0.002). The C allele frequency of the A1298C polymorphism was significantly different between the TS mothers and controls (p=0.02). The association of A1298C gene polymorphism in TS patients was found to increase with increasing age of both mothers (p=0.026) and fathers (p=0.044) of TS cases. CONCLUSION: Our findings suggest a strong association between maternal MTHFR A1298C and risk of TS in Egypt.

Sex Chromosome Mosaicism in the Gonads of DSD Patients: A Karyotype/Phenotype Correlation.

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.

The mystery of recurrent idiopathic cerebrovascular and coronary arterial thrombosis.

A 46-year-old man presented to our hospital with ST elevation myocardial infarction (STEMI). Previous records revealed a history of recurrent non-STEMI, stroke and transient ischaemic attacks. He was thoroughly investigated with coronary angiography, a cerebral CT angiography, thrombophilia panel and autoimmune screening tests, all of which proved negative. His current episode of STEMI resulted while on dual antiplatelet therapy; the patient was investigated for P2Y12 receptor resistance, which was also negative. A diagnosis of idiopathic recurrent arterial thrombosis was established and the patient was discharged home on aspirin and warfarin. Routine follow-up has revealed no recurrence of symptoms.

Novel mutations in the displacement loop of mitochondrial DNA are associated with acute lymphoblastic leukemia: a genetic sequencing study.

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. MATERIALS AND METHODS: This study investigated alterations in the displacement loop (d-loop) region of mitochondrial DNA (mtDNA) as a risk factor and diagnostic biomarker for early detection and diagnosis of acute lymphoblastic leukemia. Using mtDNA from 23 subjects diagnosed with acute lymphoblastic leukemia, the first 450 bp of the d-loop region were amplified and successfully sequenced. RESULTS: This revealed 132 mutations at 25 positions in this region, with a mean of 6 alterations per subject. The d-loop alterations in mtDNA in subjects were all identified as single nucleotide polymorphisms in a homoplasmic distribution pattern. Mutant alleles were observed in all subjects with individual frequency rates of up to 95%. Thirteen mutant alleles in the d-loop region of mtDNA occurred with a high frequency. Novel alleles and locations were also identified in the d-loop of mtDNA as follows: 89 G insertions (40%), 95 G insertions (13%), 182 C/T substitutions (5%), 308 C insertions (19%), and 311 C insertions (80%). The findings of this study need to be replicated to be confirmed. CONCLUSIONS: Further investigation of the relationship between mutations in mitochondrial d-loop genes and incidence of acute lymphoblastic leukemia is recommended.