Genetic Variants of Neurotransmitter-Related Genes and miRNAs in Egyptian Autistic Patients

Autism is a neurodevelopmental disorder with indisputable evidence for a genetic component. This work studied the association of autism with genetic variations in neurotransmitter-related genes, including MAOA uVNTR, MAOB rs1799836, and DRD2 TaqI A in 53 autistic patients and 30 healthy individuals. The study also analyzed sequence variations of miR-431 and miR-21. MAOA uVNTR was genotyped by PCR, MAOB and DRD2 polymorphisms were analyzed by PCR-based RFLP, and miR-431 and miR-21 were sequenced. Low expressing allele of MAOA uVNTR was frequently higher in female patients compared to that in controls (OR = 2.25). MAOB G allele frequency was more significantly increased in autistic patients than in controls (P<0.001 for both males and females). DRD2 A1+ genotype increased autism risk (OR = 5.1). Severity of autism tends to be slightly affected by MAOA/B genotype. Plasma MAOB activity was significantly reduced in G than in A allele carrying males. There was no significant difference in patients and maternal plasma MAOA/B activity compared to controls. Neither mutations nor SNPs in miR-431 and miR-21 were found among studied patients. This study threw light on some neurotransmitter-related genes suggesting their potential role in Autism pathogenesis that warrants further studies and much consideration

Global economic burden of unmet surgical need for appendicitis

Background: There is a substantial gap in provision of adequate surgical care in many low-and middle-income countries. This study aimed to identify the economic burden of unmet surgical need for the common condition of appendicitis. Methods: Data on the incidence of appendicitis from 170 countries and two different approaches were used to estimate numbers of patients who do not receive surgery: as a fixed proportion of the total unmet surgical need per country (approach 1); and based on country income status (approach 2). Indirect costs with current levels of access and local quality, and those if quality were at the standards of high-income countries, were estimated. A human capital approach was applied, focusing on the economic burden resulting from premature death and absenteeism. Results: Excess mortality was 4185 per 100 000 cases of appendicitis using approach 1 and 3448 per 100 000 using approach 2. The economic burden of continuing current levels of access and local quality was US $92 492 million using approach 1 and$73 141 million using approach 2. The economic burden of not providing surgical care to the standards of high-income countries was $95 004 million using approach 1 and$75 666 million using approach 2. The largest share of these costs resulted from premature death (97.7 per cent) and lack of access (97.0 per cent) in contrast to lack of quality. Conclusion: For a comparatively non-complex emergency condition such as appendicitis, increasing access to care should be prioritized. Although improving quality of care should not be neglected, increasing provision of care at current standards could reduce societal costs substantially

Global variation in anastomosis and end colostomy formation following left-sided colorectal resection

Background End colostomy rates following colorectal resection vary across institutions in high-income settings, being influenced by patient, disease, surgeon and system factors. This study aimed to assess global variation in end colostomy rates after left-sided colorectal resection. Methods This study comprised an analysis of GlobalSurg-1 and -2 international, prospective, observational cohort studies (2014, 2016), including consecutive adult patients undergoing elective or emergency left-sided colorectal resection within discrete 2-week windows. Countries were grouped into high-, middle- and low-income tertiles according to the United Nations Human Development Index (HDI). Factors associated with colostomy formation versus primary anastomosis were explored using a multilevel, multivariable logistic regression model. Results In total, 1635 patients from 242 hospitals in 57 countries undergoing left-sided colorectal resection were included: 113 (6·9 per cent) from low-HDI, 254 (15·5 per cent) from middle-HDI and 1268 (77·6 per cent) from high-HDI countries. There was a higher proportion of patients with perforated disease (57·5, 40·9 and 35·4 per cent; P < 0·001) and subsequent use of end colostomy (52·2, 24·8 and 18·9 per cent; P < 0·001) in low- compared with middle- and high-HDI settings. The association with colostomy use in low-HDI settings persisted (odds ratio (OR) 3·20, 95 per cent c.i. 1·35 to 7·57; P = 0·008) after risk adjustment for malignant disease (OR 2·34, 1·65 to 3·32; P < 0·001), emergency surgery (OR 4·08, 2·73 to 6·10; P < 0·001), time to operation at least 48 h (OR 1·99, 1·28 to 3·09; P = 0·002) and disease perforation (OR 4·00, 2·81 to 5·69; P < 0·001). Conclusion Global differences existed in the proportion of patients receiving end stomas after left-sided colorectal resection based on income, which went beyond case mix alone

Reformasi pengaturan pengelolaan pertambangan mineral dan batubara di Indonesia

xxii, 324 h

Mycoplasma pneumoniae: Atypical Pathogen in Community Acquired Pneumonia

Mycoplasma pneumoniae is a one of most common reasons of respiratory tract infections in both adolescents and children with severity ranged from moderate to high. Many facts in the previous years regarding infections were induced via this organism having extra pathogenic mechanisms. Clinically, resistance to macrolide has produced internationally and represents a treatment trouble. Antimicrobial sensitivity checking out techniques have been applied, and novel antibiotics which are effective towards M. pneumoniae are present processing development. That evaluate concentrates on the several trends occurring in the previous quite a few years which beautify the grasp of that microorganism, which is one of the smallest pathogenic bacteria; however, is of extreme medical significance

Acetabula Osteoid Osteoma Mimicking Juvenile Idiopathic Arthritis and Chronic Recurrent Multifocal Osteomyelitis

Osteoid osteoma (OO) is a benign bone tumor that usually presents between 10 and 35 years of age. The metaphysis and diaphysis of the femur and tibia are the typical locations. The diagnosis is usually straightforward when images reveal a radiolucent nidus surrounded by reactive sclerosis. However, the diagnosis is more difficult when it occurs at atypical locations with nonspecific and misleading appearance on images. OO may mimic juvenile idiopathic arthritis (JIA), bone infection, or malignancy. We present a 14-year-old male with a 4-month history of left hip pain. His pain was worse with playing hockey and lacrosse and in the morning and sometimes woke him up at night. His examination was significant for pain with flexion and external rotation of the left hip and for mild limitation of full external rotation. Blood work revealed normal complete blood count, erythrocyte sedimentation rate, and C-reactive protein. Left hip X-ray was unremarkable. Left hip MR arthrogram showed marked edema of the medial and posterior walls of the left acetabulum. CT-guided biopsy of the left acetabulum showed unremarkable flow cytometry and chronic inflammatory component raising concern about chronic recurrent multifocal osteomyelitis (CRMO). Bone scan revealed focal increased uptake in the left acetabulum and no additional abnormality. Repeat MRI with intravenous contrast showed a left hip effusion, focal synovial enhancement in the medial left hip, and acetabula edema. The patient failed treatment for presumed JIA and CRMO with nonsteroidal anti-inflammatory drugs (NSAIDs), steroids, methotrexate, and adalimumab. CT scan of the left hip was performed for further evaluation of the bone and showed 11 × 6 mm low attenuation focus with subtle internal nidus in the posteromedial aspect of the acetabular rim, suggestive of intra-articular OO. Radiofrequency ablation was performed with no complications, and the left hip pain improved. The atypical location resulted in delay of diagnosis for 12 months after presentation. We highlight the diagnostic pitfalls observed in atypical OO locations and the difficulties this creates with making the diagnosis. OO mimicking JIA has previously been described. We submit CRMO as another differential diagnosis which may be mimicked and demonstrate the vital role of CT scan in the diagnosis

Urinary lipoxin A4 as a biomarker for systemic lupus erythematosus

Introduction Systemic lupus erythematosus (SLE) is an autoimmune disorder that has multiorgan involvement. The continuation of inflammation in lupus could be attributed to failure of the resolution process because of deficiency of potent endogenous proresolution-inducing molecules such as lipoxin A4 (LXA4), leading to progression and flares of lupus and lupus nephritis. Objective The aim of this study was to assess the levels of urinary LXA4 in SLE patients and in healthy controls, and to correlate them with various clinical and laboratory data as well as renal biopsy and disease activity indices (DAIs). Patients and methods A total of 40 adult female SLE patients were included in this study. Forty healthy women age-matched with SLE patients served as the control group. All patients were subjected to a full assessment of history, clinical examination, assessment of DAIs (SLEDAI and renal SLEDAI), and laboratory investigations including the urinary LXA4/creatinine ratio assessed by enzyme linked immunosorbent assay. Results Urinary LXA4/creatinine ratio levels were found to be significantly higher in all SLE patients compared with the healthy controls (P = 0.037). The median level of the urinary LXA4/creatinine ratio was lower in SLE patients with nephritis than in patients without nephritis (0.1 and 0.3 ng/ml, respectively), but with no statistical significance (P = 0.11). The urinary LXA4/creatinine ratio levels were found to be significantly lower in SLE patients with cardiovascular manifestations as well as those with neuropsychiatric manifestations (P = 0.009, 0.04 respectively). Conclusion This was a novel study that was carried out to assess the levels of urinary LXA4 in SLE patients. It showed that the urinary LXA4/creatinine ratio levels were significantly lower in SLE patients with cardiovascular and neuropsychiatric manifestations and nonsignificantly lower in patients with nephritis, suggesting that insufficiency of LXA4 in the human body may be responsible for major organ involvement in SLE patients. Accordingly, LXA4 is suggested to be an inflammatory biomarker not only for lupus nephritis but also for other systemic manifestations in SLE