A First Estimate of the Prevalence of Developmental Language Disorder in Mexico: A Retrospective Study.

This was a retrospective study that aimed to provide a first estimate of the prevalence of developmental language disorder (DLD) in Mexico, where there is currently a lack of epidemiological data on this disorder. Children aged 4;0 to 6;11 years in the cities of Mexico, Queretaro, and Monterrey were classified into two groups: those with DLD (N = 46) and those with typical language development (N = 497). The diagnosis of DLD was based on standardized norm-referenced assessment and language sample analyses. Children with other disabilities were excluded from the final sample. The final sample consisted of 543 children (55% male; 45% female) aged 4;0 to 6;11 years. The estimated prevalence of DLD was 8.5%. The study has clinical implications given that the prevalence of DLD in Mexico may raise awareness of this long-lasting disorder and may help health and educational authorities establish a system to early identify and diagnose children with DLD.

Efficacy and Safety of Interferon-Gamma in Chronic Granulomatous Disease: a Systematic Review and Meta-analysis.

BACKGROUND: Chronic granulomatous disease (CGD) is a primary immunodeficiency with increased susceptibility to several bacteria, fungi, and mycobacteria, caused by defective or null superoxide production by the NADPH oxidase enzymatic complex. Accepted treatment consists mainly of antimicrobial prophylaxis. The role of human recombinant subcutaneous interferon-gamma (IFNγ) is less clear since the available evidence on its efficacy derives mainly from a single clinical trial that has been challenged. OBJECTIVE: We aimed to assess the efficacy and safety of IFNγ as an added treatment for CGD when compared to antimicrobial prophylaxis alone. METHODS: A literature search was conducted using MeSH terms "Chronic granulomatous disease" AND ("interferon gamma" OR "interferon-gamma"), as well as antibiotics, placebo, no therapy, clinical trial, and trial, on MEDLINE, EMBASE, LILACS, WHOs, CENTRAL, KOREAMED, The Cochrane Library, clinicaltrials.gov, and abstracts from meetings, from 1976 to July 2022. We included clinical trials (CT) and prospective follow-up studies and registered the number of serious infections (requiring hospitalization and IV antibiotics) and deaths, adverse events, and autoimmune complications, in patients treated for CGD with antimicrobial prophylaxis plus IFN-γ, versus antimicrobial prophylaxis alone. We assessed the quality of the studies using risk of bias and STROBE. We performed a meta-analysis by calculating both Peto's odds ratio (OR) and risk reduction (RR) through the Mantel-Haenszel method with a fixed-effect model, using Review Manager 5.4, and we reported the number needed to treat (NNT). RESULTS: We identified 54 matches from databases and 4 from other sources. We excluded 12 duplicates, 7 titles, and 9 abstracts for relevance, after which we had 30 eligible studies. Twenty-four were then excluded after reading the full text. Six papers were included: one randomized CT and 5 follow-up studies. In total, 324 patients with Chronic granulomatous disease were followed for 319 months under treatment with antibiotic prophylaxis plus interferon-gamma or placebo (or antibiotic prophylaxis alone), reported between the years 1991 and 2016. Three of the studies included a control group, allowing for the aggregate analysis of efficacy (prevention of serious infections). The aggregate OR was 0.49, with a 95% confidence interval of 0.19 to 1.23. The risk ratio for serious infection was 0.56 (95%CI 0.35-0.90) under IFN-γ. The meta-analysis thus favors interferon-gamma for a risk reduction of serious infection. DISCUSSION: The results from this meta-analysis support the use of IFN-γ in the treatment of patients with CGD. However, we found insufficient clinical evidence and believe more clinical trials are needed to better assess the efficacy and long-term safety of IFN-γ.

Kawasaki disease presenting with hoarseness: A multinational study of the REKAMLATINA network.

BACKGROUND: Recently, hoarseness affecting the supraglottic structure has been reported in Kawasaki disease (KD). The objective of this study was to characterize the frequency of hoarseness in acute KD patients in Latin America. METHODS: We used prospective data from the multinational Red de Enfermedad de Kawasaki en America Latina (REKAMLATINA) network. A total of 865 patients from 20 countries were enrolled during the 3 year study period. Data on hoarseness were available in 858 (99.2%) patients. The clinical and laboratory characteristics between hoarse and non-hoarse KD were compared. RESULTS: Hoarseness was documented in 100 (11.6%) patients. Hoarse patients were younger than those with KD without hoarseness (median age 18 vs 26 months; P = 0.002) and presented with lower hemoglobin (10.7 g/dL vs 11.3 g/dL; P = 0.040) and hematocrit levels (32% vs 33%, P = 0.048). CONCLUSIONS: Hoarseness was found to be prevalent as a presenting sign of acute KD in younger children. Anemia may indicate the presence of active inflammation.

Are apoptosis-determining techniques useful to establish an early diagnosis of acute graft-vs-host disease in pediatric patients under treatment with multiple drugs?

BACKGROUND: There are no pathognomonic histopathological features to distinguish acute graft-vs-host disease (aGVHD) from skin drug reactions (SDRs) in pediatric patients with multiple drug regimens that have received blood transfusions and/or transplants. We aimed to determine if the addition of apoptosis markers is helpful to distinguish aGVHD from SDRs in these patients. METHODS: Skin biopsy specimens from patients with a clinical diagnosis of aGVHD or SDRs were evaluated for the presence of apoptotic bodies, satellitosis, interface damage, vasculitis, and inflammatory infiltrate on H&E stain. Information was completed with apoptotic markers (transferase-mediated dUTP nick end-labeling [TUNEL], bcl-2, and caspase-3). RESULTS: The skin biopsy specimens of 32 patients with aGVHD and 11 with SDRs were included for study. Only the number of apoptotic keratinocytes per 10 high-power fields (hpf) showed a significant difference between both groups (P = 0.02); the presence of ≥4 apoptotic keratinocytes per 10 hpf was identified as the optimal cut-off point to discriminate aGVHD from SDRs. No SDRs cases had follicular apoptotic cells. TUNEL, bcl-2, and caspase-3 determination showed no difference between both groups. CONCLUSIONS: The presence of ≥4 apoptotic keratinocytes per 10 hpf (in aGVHD) and the absence of follicular apoptotic cells (in SDRs) might be a useful marker to distinguish between them.

IgA vasculitis (Henoch - Schönlein Purpura) as the first manifestation of juvenile Systemic Lupus Erythematosus: Case-control study and systematic review.

BACKGROUND: We have recognized 15 children with jSLE and the antecedent of IgA vasculitis (HSP). This association is not broadly present in the literature. AIM: To know the age and gender distribution of children with IgA vasculitis (HSP), compare it to our IgA vasculitis (HSP) + jSLE cases, and identify prognostic factors to develop jSLE within our case series, IgA vasculitis (HSP) vs. IgA vasculitis (HSP) + jSLE. METHODS: A systematic review was carried out to know the age and gender distribution of children with IgA vasculitis (HSP). The information obtained plus data from 110 children with IgA vasculitis (HSP) from the Instituto Nacional de Pediatría were used to compare groups and identify prognostic factors. We performed a case-control study in patients < 18 years, consisting of 15 cases retrospectively identified with IgA vasculitis (HSP) + jSLE, and 110 IgA vasculitis (HSP) control subjects. RESULTS: The information of 12,819 IgA vasculitis (HSP) subjects from the systematic review and 110 IgA vasculitis (HSP) controls was obtained and compared to our 15 IgA vasculitis (HSP) + jSLE cases. The mean age of IgA vasculitis (HSP) was 7.1-years vs. 10.4-years of IgA vasculitis (HSP) + jSLE at the HSP diagnosis. Female to male ratio of IgA vasculitis (HSP) was 1:1.33 vs. 1:0.25 of IgA vasculitis (HSP) + jSLE. Patients with IgA vasculitis (HSP) + jSLE had lower levels of Hemoglobin (Hb) compared to patients with IgA vasculitis (HSP) 109 g/L vs. 141 g/L. For the development of jSLE, we found older age and lower levels of Hb as prognostic factors with OR [95% CI]: 1.37 [1.06, 1.89] and 5.39 [2.69, 15.25], respectively. CONCLUSION: IgA vasculitis (HSP) + jSLE patients are older and have lower levels of Hb than patients with IgA vasculitis (HSP). It is necessary to confirm these findings through a prospective study.

Impact factor correlations with Scimago Journal Rank, Source Normalized Impact per Paper, Eigenfactor Score, and the CiteScore in Radiology, Nuclear Medicine & Medical Imaging journals.

INTRODUCTION: In the last decade, several journal's editors decided to publish alternative bibliometric indices parallel to the impact factor (IF): Scimago Journal Rank (SJR), Source Normalized Impact per Paper (SNIP), Eigenfactor Score (ES) and CiteScore™ (CiteScore); however, there is scarce information about the correlations among them. In this study, we aimed to evaluate the associations between this bibliometrics in the Radiology, Nuclear Medicine & Medical Imaging category of the Web of Knowledge. We hypothesized the IF did not show the best correlation with other metrics. METHODS: Retrospective study. We used bibliometrics recorded from the 2017 publicly available versions of the Journal Citation Reports (JCR), SJR ( www.scimagojr.com ), SNIP ( www.journalindicators.com ), and CiteScore ( www.scopus.com ); we also included the Total Cites. We measured the correlations using the Spearman correlation coefficients (RS) for all combinations of the bivariate pair, performed pairwise comparisons of the RS values, and calculated the coefficients of determination. We also tested the statistical significance of the difference between r coefficients between groups. All analyses were conducted with the JMP Pro software. RESULTS: The stronger bivariate correlations were represented by the ES↔Total Cites RS = 0.968, p < 0.001, R2 = 0.937; and the CiteScore↔SJR RS = 0.911, p < 0.001, R2 = 0.829. From 105 possible combinations of pairwise comparisons, 38 depicted a p value > 0.050 which would suggest interchangeability among bivariate correlations. CONCLUSIONS: Our findings support our hypothesis that the IF does not show the best correlation between other metrics. Radiologists, interventional radiologist, or nuclear medicine doctors should have a clear understanding of the associations among the journal's bibliometrics for their decision-making during the manuscript submission phase.

Population Pharmacokinetics and Pharmacodynamics of Dexmedetomidine in Children Undergoing Ambulatory Surgery.

BACKGROUND: Dexmedetomidine (DEX) is an α-2 adrenergic agonist with sedative and analgesic properties. Although not approved for pediatric use by the Food and Drug Administration, DEX is increasingly used in pediatric anesthesia and critical care. However, very limited information is available regarding the pharmacokinetics of DEX in children. The aim of this study was to investigate DEX pharmacokinetics and pharmacodynamics (PK-PD) in Mexican children 2-18 years of age who were undergoing outpatient surgical procedures. METHODS: Thirty children 2-18 years of age with American Society of Anesthesiologists physical status score of I/II were enrolled in this study. DEX (0.7 µg/kg) was administered as a single-dose intravenous infusion. Venous blood samples were collected, and plasma DEX concentrations were analyzed with a combination of high-performance liquid chromatography and electrospray ionization-tandem mass spectrometry. Population PK-PD models were constructed using the Monolix program. RESULTS: A 2-compartment model adequately described the concentration-time relationship. The parameters were standardized for a body weight of 70 kg by using an allometric model. Population parameters estimates were as follows: mean (between-subject variability): clearance (Cl) (L/h × 70 kg) = 20.8 (27%); central volume of distribution (V1) (L × 70 kg) = 21.9 (20%); peripheral volume of distribution (V2) (L × 70 kg) = 81.2 (21%); and intercompartmental clearance (Q) (L/h × 70 kg) = 75.8 (25%). The PK-PD model predicted a maximum mean arterial blood pressure reduction of 45% with an IC50 of 0.501 ng/ml, and a maximum heart rate reduction of 28.9% with an IC50 of 0.552 ng/ml. CONCLUSIONS: Our results suggest that in Mexican children 2-18 years of age with American Society of Anesthesiologists score of I/II, the DEX dose should be adjusted in accordance with lower DEX clearance.

Kawasaki Disease Complicated With Macrophage Activation Syndrome: A Systematic Review.

Macrophage activation syndrome (MAS), also known as secondary hemophagocytic lymphohistiocytosis, is a rare and potentially fatal complication of Kawasaki disease (KD). We report 2 cases, performed a literature search, and analyze the characteristics of MAS associated with KD. A total of 69 patients were evaluated, 34 reported the date of the diagnosis of MAS and KD, 6% had a diagnosis of MAS before KD, 21% had a simultaneous presentation, and 73% had the diagnosis of MAS after KD. Different treatment approaches were observed with corticosteroids administered in 87%, cyclosporine in 49%, etoposide (VP-16) in 39%, and monoclonal anti-TNF in 6% of cases. Coronary abnormalities were especially high in this group of patients (46%) and 9 patients died (13%). The persistence of fever with splenomegaly, hyperferritinemia, thrombocytopenia, and elevated aspartate aminotransferase (AST) should prompt the consideration of MAS complicating KD.

Defects in the first wave of folliculogenesis in mouse XO ovaries.

In mouse ovaries, the first wave of folliculogenesis perinatally starts near the medullary region, which directs the initial round of follicular growth soon after birth. At the same time, cortical primordial follicles start forming in the ovarian surface region, and then some are cyclically recruited for the second and subsequent rounds of follicular growth. Recent studies suggest different dynamics between the first and subsequent waves of follicular growth in postnatal ovaries. However, the phenotypic differences between these phases remain unclear. Here, we show direct evidence that XO female mice, a murine model for Turner Syndrome, lack the first wave of folliculogenesis. Our histopathological analyses of XX and XO littermates revealed a lack of anti-Müllerian hormone (AMH)-positive primary follicles in the XO ovaries by 4 days post partum (dpp). This loss of first follicles was also confirmed by histological bioassay for SRY-dependent SOX9 inducibility, a specific marker for the first follicular granulosa cells. In contrast, cortical primordial follicles formed properly in XO ovaries, and some of them formed primary and secondary follicles in the subcortical region by 7 dpp. They rapidly developed into late antral follicles, showing similarities to XX littermate ovaries by 21 dpp. These results suggest distinct X-monosomy effects between the first and subsequent waves of follicular growth, highlighting the high susceptibility to elimination of XO oocytes in the first wave of mammalian folliculogenesis.

Clinical Features, Non-Infectious Manifestations and Survival Analysis of 161 Children with Primary Immunodeficiency in Mexico: A Single Center Experience Over two Decades.

PURPOSE: The hallmark of Primary immunodeficiencies (PID) is unusual infection, although other immunological non-infectious manifestations such as autoimmunity, allergy and cancer are often present. Most published reports focus on one disease or defect groups, so that a global prevalence of non-infectious manifestations of PID is hard to find. We aimed to describe the clinical features of our pediatric patients with PID, as well as the frequency and evolution of allergy, cancer and autoimmunity. METHODS: We reviewed all the available charts of patients being followed for PID from 1991 to the spring of 2012 at the National Institute of Pediatrics, Mexico City, to describe their demographic, clinical and laboratory features. Their diagnoses were established by pediatric immunologists in accordance to ESID criteria, including routine immunological workup and specialized diagnostic assays. We divided patients by decade of diagnosis to analyze their survival curves. RESULTS: There were 168 charts available, from which we excluded one duplicate and six equivocal diagnoses. We studied the charts of 161 PID patients (68% male, 86% alive), mostly from the center of the country, with a positive family history in 27% and known consanguinity in 11%. Eighty percent of the patients were diagnosed during the last decade. Current median age was 124 months; median age at onset of infections, 12 months; median age at diagnosis, 52 months; median age at death, 67.5 months. Severe infection and bleeding were the cause of 22 deaths. Eighty-six percent of all patients had at least one infection, while non-infectious manifestations had a global prevalence of 36%, namely: autoimmunity 19%, allergies 17%, and cancer 2.4%. Survival curves were not significantly different when compared by decade of diagnosis. CONCLUSIONS: Compared to other registry reports, we found a lower prevalence of antibody defects, and of associated allergy and cancer. We could only locate two isolated IgA deficiencies and four cases of cancer among our PID patients. Although antibody defects are the most prevalent group (30%), the distribution we found is similar to that reported in Iran, Kuwait, Egypt and Taiwan, with a close 27% share for phagocyte defects, and 26% for the formerly called "well-defined" syndromes. Of note, autoimmune and inflammatory complications are high among our patients with chronic granulomatous disease, as has been reported in both the United States and Japan, but not in Europe.

[Utility of transperineal ultrasound in stress urinary incontinence diagnosis]. / Utilidad diagnóstica del ultrasonido transperineal en la incontinencia urinaria de esfuerzo.

BACKGROUND: Urinary incontinence is a common women's illness which causes a significant negative impact in their lives' quality. Stress urinary incontinence and mixed one are the most usual types in postmenopausal women. It is considered that transperineal ultrasound imaging could be as efficient for stress urinary incontinence diagnostic purposes, as the urodynamic testing. OBJECTIVE: To determine the utility of transperineal ultrasound in the diagnosis of stress urinary incontinence in postmenopausal women. MATERIAL AND METHODS: A diagnostic test was applied based on employment of transperineal ultrasound, in postmenopausal women with clinical SUI from January 2001 to October 2008 in the Hospital Español de México. The procedure involved two phases: in the first phase, anatomical measurements were determined using transperineal ultrasound, in order to establish the normalcy in women not suffering stress urinary incontinence, and from them it began the second phase to study the utility of transperineal ultrasound in stress urinary incontinence. RESULTS: The group analyzed involved 80 patients with stress urinary incontinence clinical diagnosis; 15 (19%) patients were excluded. We obtained the following results: sensitivity: 94% (IC 95% 88-100%), specificity 73% (IC 95% 46-99%), positive predictive value: 94% (IC 95% 88-100%), negative predictive value: 73% (IC 95% 46-99%) and positive likelihood ratio 3.46, and negative likelihood ratio 0.08. CONCLUSIONS: Our data suggest that transperineal ultrasound can be use as a screening tool for stress urinary incontinence diagnosis in postmenopausal patients, based on measurements perfoming simple. It is important more studies with bigger sample size to establish the diagnostic utility.

Conditions for late gadolinium enhancement MRI in myocardial infarction model rats that better reflect microscopic tissue staining.

Late gadolinium enhancement (LGE) is a widely used magnetic resonance imaging method for assessing cardiac disease. However, the relationship between different LGE signal thresholds and microscopic tissue staining images is unclear. In this study, we performed cardiovascular MRI on myocardial infarction (MI) model rats and evaluated the relationship between LGE with different signal thresholding methods and tissue staining images. We prepared 16 rats that underwent MRI 14-18 days following a surgery to create an MI model. We captured cine and LGE images of the cardiac short-axis and longitudinal two- and four-chamber views. The mean ± 2SD, ± 3SD, and ± 5SD of the pixel values in the non-infarcted area were defined as the LGE area. We compared areas of Sirius red staining, determined by the color tone, with their respective LGE areas at end-diastole and end-systole. We observed that the LGE area calculated as the mean ± 2SD of the non-infarcted area at end-diastole demonstrated a significant positive correlation with the area of Sirius red staining (Pearson's correlation coefficient in both: 0.81 [p < 0.01]). Therefore, the LGE area calculated as the mean ± 2SD of the non-infarcted area at end-diastole best reflected the MI area in tissue staining.

Promoting networks between evidence-based medicine and values-based medicine in continuing medical education.

BACKGROUND: In recent years, medical practice has followed two different paradigms: evidence-based medicine (EBM) and values-based medicine (VBM). There is an urgent need to promote medical education that strengthens the relationship between these two paradigms. This work is designed to establish the foundations for a continuing medical education (CME) program aimed at encouraging the dialogue between EBM and VBM by determining the values relevant to everyday medical activities. METHODS: A quasi-experimental, observational, comparative, prospective and qualitative study was conducted by analyzing through a concurrent triangulation strategy the correlation between healthcare personnel-patient relationship, healthcare personnel's life history, and ethical judgments regarding dilemmas that arise in daily clinical practice.In 2009, healthcare personnel working in Mexico were invited to participate in a free, online clinical ethics course. Each participant responded to a set of online survey instruments before and after the CME program. Face-to-face semi-structured interviews were conducted with healthcare personnel, focusing on their views and representations of clinical practice. RESULTS: The healthcare personnel's core values were honesty and respect. There were significant differences in the clinical practice axiology before and after the course (P <0.001); notably, autonomy climbed from the 10th (order mean (OM) = 8.00) to the 3rd position (OM = 5.86). In ethical discernment, the CME program had an impact on autonomy (P ≤0.0001). Utilitarian autonomy was reinforced in the participants (P ≤0.0001). Regarding work values, significant differences due to the CME intervention were found in openness to change (OC) (P <0.000), self-transcendence (ST) (P <0.001), and self-enhancement (SE) (P <0.019). Predominant values in life history, ethical discernment and healthcare personnel-patient relation were beneficence, respect and compassion, respectively. CONCLUSIONS: The healthcare personnel participating in a CME intervention in clinical ethics improved high-order values: Openness to change (OC) and Self Transcendence (ST), which are essential to fulfilling the healing ends of medicine. The CME intervention strengthened the role of educators and advisors with respect to healthcare personnel. The ethical values developed by healthcare professionals arise from their life history and their professional formation.

Clinical manifestations associated with Kawasaki disease shock syndrome in Mexican children.

UNLABELLED: Recently, there have been increasing reports of severe forms of Kawasaki disease (KD) associated with shock that have been managed in pediatric intensive care units. It has been suggested that KD is more severe in the Hispanic population. We conducted a study to determine the frequency of Kawasaki disease shock syndrome (KDSS) in our population and compared characteristics between patients with KD without shock and patients with KDSS. Data from 214 patients with KD treated in a tertiary pediatric hospital were collected during a 12-year period. We compared clinical and laboratory features of KD patients without shock and KDSS patients. Of 214 consecutive patients with KD, 11 (5 %) met the definition for KDSS. All of these patients received fluid resuscitation, seven (64 %) required inotropic treatment, and six (54 %), ventilatory support. On admission, seven of these patients (64 %) had an incomplete presentation of the disease, whereas in the group of patients without shock, the relative frequency of an incomplete presentation was 29 %. Twenty percent (3/11) of patients with KDSS presented giant coronary aneurysms versus none of 203 KD patients without shock (p = 0.001); myocardial infarction, 27 % (3/11), versus 1 % (2/203) (p = 0.001); and intravenous immunoglobulin (IVIG) resistance, 60 % (6/11), versus 12 % (24/203). Gastrointestinal manifestations in the acute phase occurred in 91 % of KDSS patients versus 30 % patients without shock (p = 0.001). CONCLUSION: Patients with KD presenting in shock seem to have an increase in gastrointestinal manifestations, incomplete presentation, IVIG resistance, and worse cardiac outcomes. Larger, prospective, multicentre studies should be carried out to corroborate these findings.

Predictive validity of a parental questionnaire for identifying children with developmental language disorders.

Background: The underdiagnosis of developmental language disorder (DLD) in children is a serious problem in developing countries with limited resources. It has long been noted that the concerns parents have about their children's health and development are richly informative, and if this information can be used for diagnosis, it may provide a means to address the problem of underdiagnosis of DLD. This study aimed to quantify the utility of parental linguistic concern questions (PLCQ) on the identification of language disorders in monolingual Spanish-speaking children in Mexico. It also explored whether a combination of biological and environmental conditions questions (BECQ) might improve the performance of a screening test to identify DLD. Methods: A total of 680 monolingual Mexican Spanish-speaking children and their parents from urban areas in Mexico participated in the study. The distribution of responses to questions about DLD concerns was compared between 185 children diagnosed with DLD and 495 control subjects, and multiple logistic regression analysis was performed to select questions with high predictivity, based on the Akaike information criterion. The diagnostic utility of the questions was assessed by receiver operating characteristic (ROC) curves, stratum-specific likelihood ratios (SSLRs), and changes in pretest and post-test probabilities of DLD. A similar procedure was used to explore whether adding BECQ would improve the diagnostic utility of questions about DLD concerns using data of 128 children. Results: Four questions regarding parental linguistic concerns were found to be useful in identifying children with DLD. When all four concerns were present, the SSLR was 8.79, while it was only 0.27 when there were no concerns at all. The estimates of DLD probability increased from 0.12 to 0.55 at pretest and post-test. On the other hand, the BECQ did not perform as well as the PLCQ in identifying DLD, and the improvement in diagnostic performance it provided was limited to one question. Conclusion: The parental questionnaire can be used as a screening tool to help in identifying children with DLD. The data presented in this study underscore the importance of considering linguistic parental concerns as part of the screening process. This is a realistic option to provide a solution to the current problem of underdiagnosis of DLD in Mexico.

"Early detection of Spanish-speaking children with developmental language disorders: Concurrent validity of a short questionnaire and a screening test".

BACKGROUND: . Under-identification of Developmental Language Disorder (DLD) is a significant problem in monolingual Latin American Spanish-speaking children. We evaluated the identification utility of the sequential use of two screening tools, the "Parental Questionnaire (PQ)" and the "Screening for Language Problems (TPL)", to identify children who require confirmatory diagnosis of DLD. METHODS: Parents of children (4 to 6 years) were contacted in schools and public health centers in Mexico. Monolingual Spanish-speaking children with no auditory and cognitive disorders were eligible. The reference diagnosis of DLD was established using BESA (Bilingual English-Spanish Assessment) or SCELF-4 (Spanish Clinical Evaluation of Language Fundamentals), combined with data from the narrative samples that yielded the percentage of ungrammaticality and the clinical judgment of two Speech-Language Pathologists (SLPs). Responses to the PQ were obtained as a parental report, and the TPL was applied by a trained SLPs. RESULTS: . Both PQ and TPL presented a significant difference between the groups of children with DLD and typical language development (TLD). By combining the two instruments, a notable improvement in diagnostic utility was shown. CONCLUSION: . The combination of these two procedures provides an efficient method for screening children having the risk of DLD and contributes to resolving the problem of under-identification.

Chlamydophila pneumoniae-associated community-acquired pneumonia in paediatric patients of a tertiary care hospital in Mexico: molecular diagnostic and clinical insights.

Chlamydophila pneumoniae is a cause of community-acquired pneumonia (CAP) and responsible for 1-2% of cases in paediatric patients. In Mexico, information on this microorganism is limited. The aim of this study was to detect C. pneumoniae using two genomic targets in a real-time PCR and IgM/IgG serology assays in paediatric patients with CAP at a tertiary care hospital in Mexico City and to describe their clinical characteristics, radiological features, and outcomes. A total of 154 hospitalized patients with diagnosis of CAP were included. Detection of C. pneumoniae was performed by real-time PCR of the pst and arg genes. Complete blood cell count, C-reactive protein measurement and IgM and IgG detection were performed. Clinical-epidemiological and radiological data from the patients were collected. C. pneumoniae was detected in 25 patients (16%), of whom 88% had underlying disease (P = 0.014). Forty-eight percent of the cases occurred in spring, 36% in girls, and 40% in children older than 6 years. All patients had cough, and 88% had fever. Interstitial pattern on chest-X-ray was the most frequent (68%), consolidation was observed in 32% (P = 0.002). IgM was positive in 7% and IgG in 28.6%. Thirty-six percent presented complications. Four percent died. A high proportion showed co-infection with Mycoplasma pneumoniae (64%). This is the first clinical report of C. pneumoniae as a cause of CAP in Mexican paediatric patients, using two genomic target strategy and serology. We found a frequency of 16.2% with predominance in children under 6 years of age. In addition; cough and fever were the most common symptoms. Early detection of this pathogen allows timely initiation of specific antimicrobial therapy to reduce development of complications. This study is one of the few to describe the presence of C. pneumoniae in patients with underlying diseases.

Association between brain natriuretic peptide and cardiac dysfunction in hypertensive pregnancy disorders.

OBJECTIVE: The aim of this work is to identify the correlation between serum brain natriuretic peptide (BNP) and left ventricle (LV) systolic and diastolic function in hypertensive pregnancy disorders (HPD) through echocardiographic parameters. STUDY DESIGN: Eighty-seven pregnant patients were included, 23 with normotensive pregnancy (NP), 28 with gestational hypertension (GH) and 36 with preeclampsia (PE). Conventional 2D echocardiography was used to evaluate systolic and diastolic function such as E/a, E/e', LV mass index, LV ejection fraction, as well as left atria (LA) diameters, LA indexed volume, LV strain and LA strain (LAS). Brain natriuretic levels (BNP) blood levels were also determined. MAIN OUTCOME MEASURES: The serum levels of BNP were higher in patients with PE [median (interquartile range, IQR)] 189 (142-215) pg/ml and GH 105 (46-162) pg/ml compared to NP 23 (9-33) pg/ml, (p = 0.001). BNP levels had a negative correlation with LAS (Rho = -0.79, p < 0.001). Preeclampsia patients had lower LAS [median (IQR)] 22% (20%-24%) compared to the GH group 23% (20%-24%) and NP 35% (34% -35%), p = 0.001. Classification and Regression Trees multivariate analysis found patterns that define trends to form mutually excluding homogeneous groups such as: a) First parameter that separates 2 groups is septal e > 8.2 or < 8.2b), BNP serum levels above 89 pg/ml, and c) LAS increases the discriminatory performance to detect and define the diastolic dysfunction or not. CONCLUSIONS: At least one third of women with HPD had moderate diastolic dysfunction. The degree of diastolic dysfunction was negatively correlated with serum BNP levels and severity of HPD. LAS increase discriminatory performance to identify diastolic dysfunction in HPD.

Activating de novo monoallelic variants causing inborn errors of immunity in two unrelated children born of HIV-seroconcordant couples.

INTRODUCTION: Around 20% of all inborn errors of immunity (IEI) are autosomal dominant or monoallelic, either by haploinsufficiency, negative dominance, or gain of function (GOF). GOF phenotypes usually include autoinflammation, autoimmunity, lymphoproliferation, allergies, and some infections. CASE SERIES: We describe the cases of two unrelated patients born of HIV-seroconcordant parents. Both patients are HIV-negative but carry de novo GOF missense variants that resulted in inflammatory lymphoproliferative IEI diseases: signal transducer and activator of transcription 3 (STAT3)-GOF and phosphatidylinositol 3-kinase, catalytic delta (PIK3CD)-GOF. Both variants were found through whole-exome sequencing and confirmed by Sanger.An 11-year-old male with recurrent sinopulmonary infections, dysmorphism, growth delay, bronchiectasis, and mild mental retardation, as well as lymphopenia, thrombocytopenia, and high immunoglobulin M. Both his parents were known to be HIV-positive under anti-retroviral treatment. HIV infection was repeatedly ruled out in the patient, whom through whole-exome sequencing was found to have a heterozygous missense variant in exon 24 of PIK3CD, a hotspot transition, and the most reported variant in PIK3CD-GOF patients.A 6-year-old male with autoimmune hemolytic anemia, lymphoproliferation, short stature, and intractable diarrhea. Both his parents were found to be HIV-positive. HIV was repeatedly ruled out in the patient by ELISA and viral load. He was found to have a heterozygous missense/splice variant in exon 22 of STAT3, a hotspot transition, and the most reported variant in STAT3-GOF patients. DISCUSSION: The AID/APOBEC3 A-H family of proteins are cytidine deaminases that induce G>A hypermutation in both the invading viral DNA and the host genome, which results in stop codons inside the endogenized retroviral sequence. Both variants found in our patients are G to A transitions. Retroviral infection might thus have resulted in host genome instability, and our patients' rare congenital diseases are the unfortunate consequence of somatic hypermutation in one of their parents' gametes.