Autoimmune Lymphoproliferative Syndrome (ALPS), commonly caused by mutations in the FAS gene, is a disease with variable penetrance. Subjects may be asymptomatic, or they may present with lymphadenopathy, splenomegaly, cytopenias, or malignancy. Prompt recognition of ALPS is needed for optimal management. We describe a multi-generational cohort presenting with clinical manifestations of ALPS, and a previously unreported heterozygous missense variant of uncertain significance in FAS (c.758G >T, p.G253V), located in exon 9. Knowledge of the underlying genetic defect permitted prompt targeted therapy to treat acute episodes of cytopenia. This cohort underscores the importance of genetic testing in subjects with clinical features of ALPS and should facilitate the reclassification of this variant as pathogenic.Severe trauma is the most common cause of mortality in children and is associated with a high socioeconomic burden. The most frequently injured organs in children are the head and thorax, followed by the extremities and by abdominal injuries. The efficient and early assessment and management of these injuries is essential to improve patients' outcome. Physical examination as well as imaging techniques like ultrasound, X-ray and computer tomography are crucial for a valid early diagnosis. Furthermore, laboratory analyses constitute additional helpful tools for the detection and monitoring of pediatric injuries. Specific inflammatory markers correlate with post-traumatic complications, including the development of multiple organ failure. Other laboratory parameters, including lactate concentration, coagulation parameters and markers of organ injury, represent further clinical tools to identify trauma-induced disorders. In this review, we outline and evaluate specific biomarkers for inflammation, acid-base balance, blood coagulation and organ damage following pediatric polytrauma. The early use of relevant laboratory markers may assist decision making on imaging tools, thus contributing to minimize radiation-induced long-term consequences, while improving the outcome of children with multiple trauma.Background Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiencies are rare autosomal recessive fatty acid β-oxidation disorders. Their clinical presentations are variable, and premature death is common. They are included in newborn blood spot screening programs in many countries around the world. The current process of screening, through the measurement of acylcarnitines (a metabolic by-product) in dried blood spots with tandem mass spectrometry, is subject to uncertainty regarding test accuracy. Methods We conducted a systematic review of literature published up to 19th June 2018. We included studies that investigated newborn screening for LCHAD or MTP deficiencies by tandem mass spectrometry of acylcarnitines in dried blood spots. The reference standards were urine organic acids, blood acylcarnitine profiles, enzyme analysis in cultured fibroblasts or lymphocytes, mutation analysis, or at least 10-year follow-up. The outcomes of interest were sensitivitudies, and sensitivity, specificity, and NPVs are unknown.Background The lactobacillus-rich microbiome forms a defense system against infections. Babies are born sterile and acquire their microbiome from exposure to the mothers' vaginal and rectal microbiota. Bacterial vaginosis (BV), which is characterized by a deficit of the Lactobacilli genera, may predispose women and their babies to an increased frequency of illness. Objective To determine the effect of BV on HIV-infected women's post-delivery health as well as the morbidity and mortality of the exposed infant at birth, 6 months, and at 12 months of life. Study Design A retrospective cohort study was conducted using previously collected data to investigate whether there was an association between BV-HIV-1 infected mothers and subsequent infant morbidity and mortality over a 12-month period. Methods Data for this analysis were extracted from the original data set. Women were categorized into two groups according to whether they had a positive or negative laboratory-based diagnosis of BV using the Nugent method. Rapamycin , P = 0.04) and maternal hospital admission (RR, 1.99; 95% CI, 1.14-3.48, P = 0.02) but was not linked to any neonatal morbidity at birth. There was a higher frequency of gastro-intestinal morbidity among BV-exposed infants. At 6 months, infants of BV-exposed mothers had higher odds of bloody stool (Odds Ratio [OR], 3.08; 95% CI, 1.11-10.00, P = 0.04), dehydration (OR, 2.94; 95% CI, 1.44-6.37, P = 0.01), vomiting (OR, 1.64; 95% CI, 1.06-2.56, P = 0.03), and mouth ulcers (OR, 12.8; 95% CI, 2.27-241.21, P = 0.02). At 12 months, exposure to BV was associated with dehydration (OR, 1.81; 95% CI, 1.05-3.19, P = 0.03) and vomiting (OR, 1.39; 95% CI, 1.01-1.92, P = 0.04). KM survival analysis showed non-significant higher trends of deaths among BV-exposed infants (P = 0.65). Conclusion This study demonstrates differences in maternal and infant morbidity outcomes associated with exposure to BV. Further research is required to determine whether treatment for maternal BV mitigates maternal and infant morbidity.Temporomandibular disorder is a multifactorial disease that causes pain in the jaw and face area with nondental origin, which frequently limits talking, chewing, and other jaw activities. Various factors such as malocclusion, trauma, stress, parafunctional habits (clenching and bruxing), osteoarthritis, and synovitis play a role in its occurrence, although the etiology of these disorders is little understood. Several treatments are being used to treat these disorders. Ozone therapy has been recently introduced as one of these treatments. Considering that no extensive study has been found in this field so far, this study is aiming to report the studies that have been conducted to determine the efficacy of ozone injection therapy in temporomandibular joint disorders. This report addresses the studies which are conducted clinically, experimentally, and semi-experimentally over the past 10 years (2009-2019). The prepared articles are screened according to the inclusion criteria. In this study, total six related articles are addressed.