Correlation between Anthropometric and Ultrasound Measurement for Dry Needling of the Iliocostalis Lumborum Muscle with a Safety Protocol: A Cross-Sectional Observational Study.

INTRODUCTION: the management of musculoskeletal pain through the application of dry needling (DN) is effective. The application of this technique can carry very infrequent major risks on muscles, such as on the iliocostalis lumborum due to its proximity to the kidney and the peritoneum. It is important to establish a DN protocol based on the different anthropometric variables of the subjects. MAIN OBJECTIVE: the main objective of this study was to investigate the correlation between different anthropometric variables and the skin-kidney and skin-peritoneum distances to establish the size of the needle that could perform DN in the iliocostalis lumborum muscle without risk. DESIGN: a cross-sectional observational study was conducted. METHODOLOGY: a total of 68 healthy subjects were evaluated. Demographic and anthropometric data, such as age, gender, weight, height, body mass index (BMI), chest (xiphoid process and axilla) and abdomen circumferences, and skinfold thickness were collected. The measurements of skin-upper and lower edge of the iliocostalis lumborum muscle and the skin-peritoneum and/or kidney in the regions of L2 and L4, and on both sides, were assessed using ultrasound imaging. RESULTS: a multiple linear regression analysis was performed, confirming that, in L2 without compression, gender significantly predicted the distance, with the distance being greater in women than in men. The measurement without compression increased with age up to 50 years, and it also increased with higher measurements for the chest-triceps, iliac crest, and thigh skinfold thickness, and decreased with higher measurement for the abdominal circumference. It was verified that the measurement with compression in L2 decreased as the neutral axillary circumference and the skinfold thickness in the abdomen-iliac crest increased, while the distance increased with larger measurements obtained in the neutral abdominal circumference and in the skinfold thickness of the chest-triceps. It was also verified that the measurement with compression in L4 increased up to a body mass index of 25 and then decreased even if the index increased further, and it decreased as the skinfold thickness in the abdomen-iliac crest decreased and increased as the measurements of the neutral abdominal circumference and the skinfold thickness in the chest-triceps increased. In L4 without compression, the gender variable significantly predicted changes in the measurement, with women tending to have a smaller distance compared to men. CONCLUSIONS: the measurements of the neutral abdominal circumference, chest-triceps, and abdomen-iliac crest skinfold thickness could help clinicians predict the skin-kidney and skin-peritoneum distances for dry needling of the iliocostalis lumborum with the methodology described.

Celiac disease screening in children and adolescents with type 1 diabetes mellitus: What test should be performed?

INTRODUCTION: Children and adolescents with type 1 diabetes mellitus (T1DM) are at high risk for the development of celiac disease (CD) because of the common genetic characteristics of both conditions. The study objectives were to investigate the frequency of the human leukocyte antigen system (HLA) for CD in pediatric T1DM patients and to determine whether HLA testing is suitable for CD screening in that population and is cost-effective as compared to serological screening for CD. PATIENTS AND METHODS: A retrospective, descriptive study was conducted in 296 patients (148 girls; 148 boys) with T1DM aged <18 years who attended a Madrid hospital. Data on the frequency of genotypes DQ2/DQ8 in a subgroup of 92 patients and the additional cost of performing HLA typing for screening CD were collected. Only when the risk HLA haplotype (DQ2/DQ8) is negative no further serological screening for CD is required. RESULTS: Twenty-three patients with T1DM (7.77%) also had CD. Alleles DQ2 or DQ8 were found in 91.3% of patients in whom the HLA haplotype was studied. Thus, only 8.7% with a negative haplotype would have benefited from HLA testing. The additional cost of HLA typing was € 105.2 for each patient with positive DQ2 or DQ8 in our population. CONCLUSIONS: HLA typing is not a cost-effective screening method for CD in T1DM because of the frequent association of T1DM with risk genotypes for CD.

Avances en el tratamiento de la diabetes tipo 1 pediátrica / Advances in the treatment of pediatric type 1 diabetes

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Celiac disease screening in children and adolescents with type1 diabetes mellitus: What test should be performed? / Cribado de enfermedad celiaca en niños y adolescentes con diabetes mellitus tipo1: ¿qué estrategia utilizar?

INTRODUCTION: Children and adolescents with type1 diabetes mellitus (T1DM) are at high risk for the development of celiac disease (CD) because of the common genetic characteristics of both conditions. The study objectives were to investigate the frequency of the human leukocyte antigen system (HLA) for CD in pediatric T1DM patients and to determine whether HLA testing is suitable for CD screening in that population and is cost-effective as compared to serological screening for CD. PATIENTS AND METHODS: A retrospective, descriptive study was conducted in 296 patients (148 girls; 148 boys) with T1DM aged <18years who attended a hospital in Madrid. Data on the frequency of genotypes DQ2/DQ8 in a subgroup of 92 patients and the additional cost of performing HLA typing for screening CD were collected. Only when the risk HLA haplotype (DQ2/DQ8) is negative no further serological screening for CD is required. RESULTS: Twenty-three patients with T1DM (7.77%) also had CD. Alleles DQ2 or DQ8 were found in 91.3% of patients in whom the HLA haplotype was studied. Thus, only 8.7% with a negative haplotype would have benefited from HLA testing. The additional cost of HLA typing was €105.2 for each patient with positive DQ2 or DQ8 in our population. CONCLUSIONS: HLA typing is not a cost-effective screening method for CD in T1DM because of the frequent association of T1DM with risk genotypes for CD.

From research to rapid response: mass COVID-19 testing by volunteers at the Centre for Genomic Regulation.

The COVID-19 pandemic has posed and is continuously posing enormous societal and health challenges worldwide. The research community has mobilized to develop novel projects to find a cure or a vaccine, as well as to contribute to mass testing, which has been a critical measure to contain the infection in several countries. Through this article, we share our experiences and learnings as a group of volunteers at the Centre for Genomic Regulation (CRG) in Barcelona, Spain. As members of the ORFEU project, an initiative by the Government of Catalonia to achieve mass testing of people at risk and contain the epidemic in Spain, we share our motivations, challenges and the key lessons learnt, which we feel will help better prepare the global society to address similar situations in the future.

Interleukin-10 Produced by Myeloid-Derived Suppressor Cells Provides Protection to Carbapenem-Resistant Klebsiella pneumoniae Sequence Type 258 by Enhancing Its Clearance in the Airways.

Carbapenem-resistant Klebsiella pneumoniae sequence type 258 (CRKP-ST258) can cause chronic infections in lungs and airways, with repeated episodes of bacteremia. In this report we addressed whether the recruitment of myeloid cells producing the anti-inflammatory cytokine interleukin-10 (IL-10) modulates the clearance of CKRP-ST258 in the lungs and establishes bacterial persistence. Our data demonstrate that during pneumonia caused by a clinical isolate of CRKP-ST258 (KP35) there is an early recruitment of monocyte-myeloid-derived suppressor cells (M-MDSCs) and neutrophils that actively produce IL-10. However, M-MDSCs were the cells that sustained the production of IL-10 over the time of infection evaluated. Using mice unable to produce IL-10 (IL-10-/-), we observed that the production of this cytokine during the infection caused by KP35 is important to control bacterial burden, to prevent lung damage, to modulate cytokine production, and to improve host survival. Importantly, intranasal transfer of bone marrow-derived M-MDSCs from mice able to produce IL-10 at 1 day prior to infection improved the ability of IL-10-/- mice to clear KP35 in the lungs, decreasing their mortality. Altogether, our data demonstrate that IL-10 produced by M-MDSCs is required for bacterial clearance, reduction of lung tissue damage, and host survival during KP35 pneumonia.

Impact of Sensor-Augmented Pump Therapy with Predictive Low-Glucose Suspend Function on Glycemic Control and Patient Satisfaction in Adults and Children with Type 1 Diabetes.

AIMS: The aim was to evaluate the effectiveness of sensor-augmented pump therapy with predictive low-glucose suspend function (SAP-PLGS) in real-world use in children and adults with type 1 diabetes (T1D). METHODS: Patients with T1D treated with the MiniMed 640G® pump with PLGS function at three referral hospitals were retrospectively evaluated. HbA1c at baseline and at 6, 12, 18, and 24 months was analyzed. Two weeks of data from pumps, sensors, and/or glucose meters were downloaded. Patients completed satisfaction questionnaires at the last follow-up visit. RESULTS: A total of 162 patients were included. Mean age was 32 ± 17 years, 28% were (n = 46) children, and 29% (n = 47) were with a history of severe hypoglycemia. Median follow-up was 12 months (6-18). HbA1c was reduced from 55 ± 9 to 54 ± 8 mmol/mol (7.2% ± 0.8% to 7.1% ± 0.7%) at 12 months (P < 0.03, n = 100). In patients with suboptimal control, there was a reduction in HbA1c from 66% ± 7% to 61 ± 10 mmol/mol (8.2% ± 0.6% to 7.7% ± 0.9%) at the end of follow-up (n = 26, P < 0.01). Three percent (n = 5) of the patients experienced severe hypoglycemia during follow-up. A reduction in the percentage of self-monitoring of blood glucose values <70 mg/dL was achieved (10% ± 7% to 6% ± 5%, P = 0.001, n = 144). Time in range 70-180 mg/dL was 67% ± 13% at the end of follow-up and predictors of a higher time in range were identified. The use of sensors was high (86%) and 73% of the patients showed high satisfaction. In patients using sensors at baseline (n = 54), the time spent at <54 and <70 mg/dL was reduced. CONCLUSION: SAP-PLGS reduces hypoglycemia frequency while maintaining glycemic control in adults and children under real-life conditions.

A national survey on the efficacy and safety of continuous subcutaneous insulin infusion in patients with type 1 diabetes in Spain.

AIMS: To assess safety and benefits of continuous subcutaneous insulin infusion (CSII) therapy in a cohort of type 1 diabetes patients in Spain. METHODS: A web-based national registry was created by the Working Group of the Spanish Diabetes Association. All patients on CSII being followed at selected referral centers were included. A cross-sectional analysis was performed. RESULTS: A total of 1275 patients were included. Data completion for patients on CSII was 67 ±â€¯32%. Indications for treatment were suboptimal glycemic control (32%), high glucose variability (24%), preconception care (14%) and hypoglycemia (11%). In the patients on CSII for ≥1 year (n = 843, mean CSII duration of 5 years), HbA1c decreased by 5 mmol/mol (0.5%) in the whole population and by 8 mmol/mol (0.7%) in subjects with suboptimal glycemic control as CSII indication. Percentage of patients achieving HbA1c ≤ 53 mmol/mol (7%) increased from 20% before CSII to 34% at the end of follow-up. Severe hypoglycemia decreased from 29% to 5%. The rate of discontinuation was 9.5%. HbA1c was lower in patients using bolus advisor and temporary basal rates. CONCLUSIONS: CSII was associated with a sustained improvement in glycemic control and a reduction in severe hypoglycemia. The use of advanced CSII settings was related to better glycemic control.

Dramatic Reduction in 30-Day Readmissions Through High-Risk Screening and Two-Phase Interdisciplinary Care.

OBJECTIVES: Thirty-day readmissions are common, serious, and costly. Most important, often they are preventable. The purpose of this quality improvement study was to evaluate an interdisciplinary, two-phase intervention to reduce 30-day readmissions among high-risk medical patients. One or two high-risk patients were selected each weekday by a hospitalist using literature-based, locally tested criteria that included common medical illnesses, active psychiatric illness, and recent or recurrent hospital admissions. METHODS: Patients admitted to 1 of 5 medical hospitalist teams were selected to receive the intervention; patients admitted to the 4 remaining teams were used for comparison. The two-phase care coordination intervention consisted of a daily interdisciplinary team meeting for the selected high-risk patients and postdischarge interventions that included outpatient care coordination until the patients' first follow-up appointment. The care plan addressed medical/geriatric assessment, social stability, medication reconciliation, nutritional needs, care coordination including future appointments/testing, and community services. Eighty-five patients in the intervention group were compared with 84 patients from the comparison group using propensity score matching. Patient characteristics were similar at baseline. RESULTS: The intervention group demonstrated a reduction in 30-day readmissions by 52% (11 vs 23, P = 0.019). Length of stay was reduced: 5.5 days compared with 7.2 days (P = 0.258). CONCLUSIONS: This intervention produced a significant reduction in 30-day readmissions for high-risk patients and a trend for shorter lengths of stay compared with similarly matched patients. Future research trials are needed to verify these results.

Structural and Functional Implications of Human Transforming Growth Factor ß-Induced Protein, TGFBIp, in Corneal Dystrophies.

A major cause of visual impairment, corneal dystrophies result from accumulation of protein deposits in the cornea. One of the proteins involved is transforming growth factor ß-induced protein (TGFBIp), an extracellular matrix component that interacts with integrins but also produces corneal deposits when mutated. Human TGFBIp is a multi-domain 683-residue protein, which contains one CROPT domain and four FAS1 domains. Its structure spans ∼120 Å and reveals that vicinal domains FAS1-1/FAS1-2 and FAS1-3/FAS1-4 tightly interact in an equivalent manner. The FAS1 domains are sandwiches of two orthogonal four-stranded ß sheets decorated with two three-helix insertions. The N-terminal FAS1 dimer forms a compact moiety with the structurally novel CROPT domain, which is a five-stranded all-ß cysteine-knot solely found in TGFBIp and periostin. The overall TGFBIp architecture discloses regions for integrin binding and that most dystrophic mutations cluster at both molecule ends, within domains FAS1-1 and FAS1-4.

Advancing Clinicopathologic Diagnosis of High-risk Neuroblastoma Using Computerized Image Analysis and Proteomic Profiling.

A subset of patients with neuroblastoma are at extremely high risk for treatment failure, though they are not identifiable at diagnosis and therefore have the highest mortality with conventional treatment approaches. Despite tremendous understanding of clinical and biological features that correlate with prognosis, neuroblastoma at ultra-high risk for treatment failure remains a diagnostic challenge. As a first step towards improving prognostic risk stratification within the high-risk group of patients, we determined the feasibility of using computerized image analysis and proteomic profiling on single slides from diagnostic tissue specimens. After expert pathologist review of tumor sections to ensure quality and representative material input, we evaluated multiple regions of single slides as well as multiple sections from different patients' tumors using computational histologic analysis and semiquantitative proteomic profiling. We found that both approaches determined that intertumor heterogeneity was greater than intratumor heterogeneity. Unbiased clustering of samples was greatest within a tumor, suggesting a single section can be representative of the tumor as a whole. There is expected heterogeneity between tumor samples from different individuals with a high degree of similarity among specimens derived from the same patient. Both techniques are novel to supplement pathologist review of neuroblastoma for refined risk stratification, particularly since we demonstrate these results using only a single slide derived from what is usually a scarce tissue resource. Due to limitations of traditional approaches for upfront stratification, integration of new modalities with data derived from one section of tumor hold promise as tools to improve outcomes.

Effectiveness of MiniMed 640G with SmartGuard® System for prevention of hypoglycemia in pediatric patients with type 1 diabetes mellitus. / Efectividad del sistema MiniMed 640G con SmartGuard® para la prevención de hipoglucemia en pacientes pediátricos con diabetes mellitus tipo 1.

INTRODUCTION/AIMS: Treatment with the MiniMed 640G-SmartGuard® system (640G-SG, sensor-augmented insulin pump system with low predicted glucose suspension feature) has been shown to decrease risk of hypoglycemia without altering metabolic control in patients with T1DM. The study purpose was to assess the impact of 640G-SG on hipoglycemia frequency and on metabolic control in a pediatric population with T1DM. PATIENTS/METHODS: A retrospective study on 21 children treated with 640G-SG. HbA1C, mean blood glucose (mg/dl), glucose variation coefficient, frequency of hypoglycemia (<70mg/dl) and hyperglycemia (>180mg/dl), daily capillary blood glucose measurements, ketosis/diabetic ketoacidosis, and severe hypoglycemic episodes were analyzed and compared before and during use of the system. Fasting blood glucose, frequency of sensor use and number and duration of system suspension events were also assessed in the last month of use of the system. RESULTS: All patients used the system continuously (5.0±2.1 months), with a median sensor use of 92%. Significant decreases were seen in hypoglycemia frequency (10.4±5.2% to 7.6±3.3%, p=.044) and number of capillary blood glucose measurements (11.3±2,2 to 8.1±2,1, p<.001), and there was no increase in hyperglycemia frequency (p=.65). Mean system suspension time was 3.1±1.2hours/day (37.3% of overnight stops). Changes in HbA1c, mean blood glucose, and variation coefficient were not significant. No patient experienced diabetic ketoacidosis or severe hypoglycemia. CONCLUSIONS: The sensor-augmented pump with the predictive low glucose suspension management system, as implemented in the 640G-SG system, can help avoid risk of hypoglycemia without significantly affecting metabolic control or causing diabetic ketoacidosis, and decrease the burden of additional capillary blood glucose measurements in our pediatric cohort.

Efectividad del sistema MiniMed 640G con SmartGuard(R) para la prevención de hipoglucemia en pacientes pediátricos con diabetes mellitus tipo 1 / Effectiveness of MiniMed 640G with SmartGuard(R) System for prevention of hypoglycemia in pediatric patients with type 1 diabetes mellitus

Introducción/objetivos: El tratamiento con el sistema MiniMed 640G-SmartGuard(R) (640G-SG, infusión subcutánea continua de insulina con sensor de monitorización continua de glucosa intersticial implementado con suspensión automática por predicción de hipoglucemia) ha demostrado en estudios previos, disminución del riesgo de hipoglucemia sin producir alteraciones en el control metabólico en pacientes con DM1. El objetivo del estudio fue evaluar la efectividad del sistema 640G-SG sobre la frecuencia de hipoglucemia y su impacto sobre el control metabólico en una población pediátrica con DM1. Pacientes/métodos: Estudio retrospectivo que incluyó 21 niños tratados con 640G-SG. Se analizaron previo y durante su uso: HbA1c, glucemia media (mg/dl), coeficiente de variación de glucosa, frecuencia de hipoglucemia (<70mg/dl) e hiperglucemia (>180mg/dl), controles de glucemia capilar/día, episodios de cetosis/cetoacidosis e hipoglucemias graves. En el último mes de uso: glucemia en ayunas, frecuencia de uso del sensor y número y duración de eventos de suspensión. Resultados: Los pacientes llevaron el sistema continuamente durante 5,0±2,1 meses con mediana de uso del 92%. Objetivamos disminución significativa de la frecuencia de hipoglucemia (10,4±5,2% a 7,6±3,3%, p=0,044) y del número de controles de glucemia capilar/día (11,3±2,2 a 8,1±2,1, p<0,001), sin aumento de hiperglucemia (p=0,65). Duración media de suspensión de infusión de insulina 3,1±1,2 h/día (37,3% suspensión nocturna). Sin cambios significativos en HbA1c, glucemia media, ni coeficiente de variación. Ningún paciente presentó cetosis/cetoacidosis ni hipoglucemia grave. Conclusiones: La suspensión automática de infusión de insulina por predicción de hipoglucemia implementada en MiniMed 640G-SmartGuard(R) ayuda a evitar el riesgo de hipoglucemia, sin empeorar el control metabólico ni provocar cetosis/cetoacidosis, y reduce la carga de controles adicionales de glucemia en nuestra cohorte pediátrica (AU)

Introduction/aims: Treatment with the MiniMed 640G-SmartGuard(R) system (640G-SG, sensor-augmented insulin pump system with low predicted glucose suspension feature) has been shown to decrease risk of hypoglycemia without altering metabolic control in patients with T1DM. The study purpose was to assess the impact of 640G-SG on hipoglycemia frequency and on metabolic control in a pediatric population with T1DM. Patients/methods: A retrospective study on 21 children treated with 640G-SG. HbA1C, mean blood glucose (mg/dl), glucose variation coefficient, frequency of hypoglycemia (<70mg/dl) and hyperglycemia (>180mg/dl), daily capillary blood glucose measurements, ketosis/diabetic ketoacidosis, and severe hypoglycemic episodes were analyzed and compared before and during use of the system. Fasting blood glucose, frequency of sensor use and number and duration of system suspension events were also assessed in the last month of use of the system. Results: All patients used the system continuously (5.0±2.1 months), with a median sensor use of 92%. Significant decreases were seen in hypoglycemia frequency (10.4±5.2% to 7.6±3.3%, p=.044) and number of capillary blood glucose measurements (11.3±2,2 to 8.1±2,1, p<.001), and there was no increase in hyperglycemia frequency (p=.65). Mean system suspension time was 3.1±1.2hours/day (37.3% of overnight stops). Changes in HbA1c, mean blood glucose, and variation coefficient were not significant. No patient experienced diabetic ketoacidosis or severe hypoglycemia. Conclusions: The sensor-augmented pump with the predictive low glucose suspension management system, as implemented in the 640G-SG system, can help avoid risk of hypoglycemia without significantly affecting metabolic control or causing diabetic ketoacidosis, and decrease the burden of additional capillary blood glucose measurements in our pediatric cohort (AU)

Impacto de la educación diabetológica en el control de la diabetes mellitus tipo 1 en la edad pediátrica / Impact of diabetes education on type 1 diabetes mellitus control in children

Introducción: En la diabetes mellitus tipo1 (DM1) la educación diabetológica es fundamental para lograr los objetivos de tratamiento. El objetivo de este estudio es determinar si el nivel de conocimientos diabetológicos de cuidadores/pacientes o los factores sociodemográficos afectan al control glucémico de niños y adolescentes con DM1. Pacientes y métodos: Se analiza el nivel de conocimientos de 105 cuidadores de niños y adolescentes con DM1 o de los pacientes adolescentes mediante una encuesta adaptada a la modalidad de tratamiento (múltiples dosis de insulina [MDI] o bomba de infusión subcutánea continua de insulina [ISCI]). Se considera la HbA1c media en el último año como marcador del control metabólico. Resultados: La media de HbA1c fue similar en ambos grupos de tratamiento (6,6±0,5 para MDI y 6,5±0,5% para ISCI, p=0,63), siendo discretamente más alta en niños mayores de 12años. Los pacientes con bomba tenían un mayor tiempo de evolución de la diabetes y obtuvieron peores resultados porque además la exigencia teórica de la encuesta fue superior por la mayor complejidad de manejo (p=0,005). Los cuidadores con nivel de estudios más bajos obtuvieron peores puntuaciones, si bien las cifras de HbA1c de sus hijos fueron más bajas, en probable relación con una mayor dedicación al cuidado de la enfermedad. Conclusiones: El nivel de conocimientos analizados fue alto, y esto se asoció con un buen control metabólico. Son necesarios estudios que evalúen la influencia de los conocimientos de los cuidadores en pacientes con diferentes grados de control metabólico (AU)

Introduction: Diabetes education is an essential tool to achieve treatment objectives in type1 diabetes mellitus (T1DM). The aim of this study was to determine if understanding of diabetes by caregivers/patients or sociodemographic factors affect blood glucose control in children and adolescents with T1DM. Patients and methods: The level of knowledge of 105 caregivers of children and adolescents with T1DM was assessed using a survey adapted to the type of treatment used (multiple dose insulin [MDI] or continuous subcutaneous insulin infusion [CSII]). Mean HbA1c levels in the previous year was considered as metabolic control marker. Results: Mean HbA1c levels were similar in both treatment groups, with slightly higher values in children over 12years of age. Patients on CSII had a longer time since disease onset and had poorer results, maybe because the items were more difficult due to the higher level of knowledge required for this treatment modality (P=.005). Caregivers with lower educational levels achieved poorer scores in the survey, but mean HbA1c levels of their children were lower, probably because of their greater involvement in disease care. Conclusions: The level of knowledge of caregivers and/or patients with T1DM was high, and this was associated to good metabolic control. Studies to assess the impact of caregiver knowledge on metabolic control of children are needed (AU)

Impact of diabetes education on type 1 diabetes mellitus control in children. / Impacto de la educación diabetológica en el control de la diabetes mellitus tipo 1 en la edad pediátrica.

INTRODUCTION: Diabetes education is an essential tool to achieve treatment objectives in type1 diabetes mellitus (T1DM). The aim of this study was to determine if understanding of diabetes by caregivers/patients or sociodemographic factors affect blood glucose control in children and adolescents with T1DM. PATIENTS AND METHODS: The level of knowledge of 105 caregivers of children and adolescents with T1DM was assessed using a survey adapted to the type of treatment used (multiple dose insulin [MDI] or continuous subcutaneous insulin infusion [CSII]). Mean HbA1c levels in the previous year was considered as metabolic control marker. RESULTS: Mean HbA1c levels were similar in both treatment groups, with slightly higher values in children over 12years of age. Patients on CSII had a longer time since disease onset and had poorer results, maybe because the items were more difficult due to the higher level of knowledge required for this treatment modality (P=.005). Caregivers with lower educational levels achieved poorer scores in the survey, but mean HbA1c levels of their children were lower, probably because of their greater involvement in disease care. CONCLUSIONS: The level of knowledge of caregivers and/or patients with T1DM was high, and this was associated to good metabolic control. Studies to assess the impact of caregiver knowledge on metabolic control of children are needed.

Prolactinomas en la población pediátrica / Prolactinomas in a paediatric population

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Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.

Velo-cardio-facial syndrome/DiGeorge syndrome/22q11.2 deletion syndrome (22q11.2DS) is caused by meiotic non-allelic homologous recombination events between flanking low copy repeats termed LCR22A and LCR22D, resulting in a 3 million base pair (Mb) deletion. Due to their complex structure, large size and high sequence identity, genetic variation within LCR22s among different individuals has not been well characterized. In this study, we sequenced 13 BAC clones derived from LCR22A/D and aligned them with 15 previously available BAC sequences to create a new genetic variation map. The thousands of variants identified by this analysis were not uniformly distributed in the two LCR22s. Moreover, shared single nucleotide variants between LCR22A and LCR22D were enriched in the Breakpoint Cluster Region pseudogene (BCRP) block, suggesting the existence of a possible recombination hotspot there. Interestingly, breakpoints for atypical 22q11.2 rearrangements have previously been located to BCRPs To further explore this finding, we carried out in-depth analyses of whole genome sequence (WGS) data from two unrelated probands harbouring a de novo 3Mb 22q11.2 deletion and their normal parents. By focusing primarily on WGS reads uniquely mapped to LCR22A, using the variation map from our BAC analysis to help resolve allele ambiguity, and by performing PCR analysis, we infer that the deletion breakpoints were most likely located near or within the BCRP module. In summary, we found a high degree of sequence variation in LCR22A and LCR22D and a potential recombination breakpoint near or within the BCRP block, providing a starting point for future breakpoint mapping using additional trios.

Gestational Hypothyroidism Improves the Ability of the Female Offspring to Clear Streptococcus pneumoniae Infection and to Recover From Pneumococcal Pneumonia.

Maternal thyroid hormones are essential for proper fetal development. A deficit of these hormones during gestation has enduring consequences in the central nervous system of the offspring, including detrimental learning and impaired memory. Few studies have shown that thyroid hormone deficiency has a transient effect in the number of T and B cells in the offspring gestated under hypothyroidism; however, there are no studies showing whether maternal hypothyroidism during gestation impacts the response of the offspring to infections. In this study, we have evaluated whether adult mice gestated in hypothyroid mothers have an altered response to pneumococcal pneumonia. We observed that female mice gestated in hypothyroidism have increased survival rate and less bacterial dissemination to blood and brain after an intranasal challenge with Streptococcus pneumoniae. Further, these mice had higher amounts of inflammatory cells in the lungs and reduced production of cytokines characteristic of sepsis in spleen, blood, and brain at 48 hours after infection. Interestingly, mice gestated in hypothyroid mothers had basally increased vascular permeability in the lungs. These observations suggest that gestational hypothyroidism alters the immune response and the physiology of lungs in the offspring, increasing the resistance to respiratory bacterial infections.