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Epidemic obesity is the most important risk factor for prediabetes and type 2 diabetes (T2D) in youth as it is in adults. Obesity shares pathophysiological mechanisms with T2D and is likely to share part of the genetic background. We aimed to test if weighted genetic risk scores (GRSs) for T2D, fasting glucose (FG) and fasting insulin (FI) predict glycaemic traits and if there is a causal relationship between obesity and impaired glucose metabolism in children and adolescents. Genotyping of 42 SNPs established by genome-wide association studies for T2D, FG and FI was performed in 1660 Italian youths aged between 2 and 19 years. We defined GRS for T2D, FG and FI and tested their effects on glycaemic traits, including FG, FI, indices of insulin resistance/beta cell function and body mass index (BMI). We evaluated causal relationships between obesity and FG/FI using one-sample Mendelian randomization analyses in both directions. GRS-FG was associated with FG (beta = 0.075 mmol/l, SE = 0.011, P = 1.58 × 10-11) and beta cell function (beta = -0.041, SE = 0.0090 P = 5.13 × 10-6). GRS-T2D also demonstrated an association with beta cell function (beta = -0.020, SE = 0.021 P = 0.030). We detected a causal effect of increased BMI on levels of FI in Italian youths (beta = 0.31 ln (pmol/l), 95%CI [0.078, 0.54], P = 0.0085), while there was no effect of FG/FI levels on BMI. Our results demonstrate that the glycaemic and T2D risk genetic variants contribute to higher FG and FI levels and decreased beta cell function in children and adolescents. The causal effects of adiposity on increased insulin resistance are detectable from childhood age.
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Diabetes Mellitus Tipo 2 , Resistencia a la Insulina , Adolescente , Adulto , Glucemia/metabolismo , Niño , Preescolar , Diabetes Mellitus Tipo 2/epidemiología , Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/metabolismo , Estudio de Asociación del Genoma Completo , Glucosa , Homeostasis , Humanos , Insulina/metabolismo , Resistencia a la Insulina/genética , Obesidad/epidemiología , Obesidad/genética , Polimorfismo de Nucleótido Simple , Factores de Riesgo , Adulto JovenRESUMEN
CTNNB1 [OMIM *116806] encodes ß-catenin, an integral part of the cadherin/catenin complex, which functions as effector of Wnt signaling. CTNNB1 is highly expressed in brain as well as in other tissues, including heart. Heterozygous CTNNB1 pathogenic variations are associated with a neurodevelopmental disorder characterized by spastic diplegia and visual defects (NEDSDV) [OMIM #615075], featuring psychomotor delay, intellectual disability, behavioral disturbances, movement disorders, visual defects and subtle facial and somatic features. We report on a new series of 19 NEDSDV patients (mean age 10.3 years), nine of whom bearing novel CTNNB1 variants. Notably, five patients showed congenital heart anomalies including absent pulmonary valve with intact ventricular septum, atrioventricular canal with hypoplastic aortic arch, tetralogy of Fallot, and mitral valve prolapse. We focused on the cardiac phenotype characterizing such cases and reviewed the congenital heart defects in previously reported NEDSDV patients. While congenital heart defects had occasionally been reported so far, the present findings configure a higher rate of cardiac anomalies, suggesting dedicated heart examination to NEDSDV clinical management.
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Cardiopatías Congénitas , Discapacidad Intelectual , Trastornos del Neurodesarrollo , Humanos , Niño , beta Catenina/genética , Cardiopatías Congénitas/diagnóstico , Síndrome , Discapacidad Intelectual/genéticaRESUMEN
Excess body weight has been considered beneficial to bone health because of its anabolic effect on bone formation; however, this results in a poor quality bone structure. In this context, we evaluated the involvement of circulating extracellular vesicles in the impairment of the bone phenotype associated with obesity. Circulating extracellular vesicles were collected from the plasma of participants with normal weight, as well as overweight and obese participants, quantified by flow cytometry analysis and used to treat mesenchymal stromal cells and osteoblasts to assess their effect on cell differentiation and activity. Children with obesity had the highest amount of circulating extracellular vesicles compared to controls. The treatment of mesenchymal stromal cells with extracellular vesicles from obese participants led to an adipogenic differentiation in comparison to vesicles from controls. Mature osteoblasts treated with extracellular vesicles from obese participants showed a reduction in differentiation markers in comparison to controls. Children with obesity who regularly performed physical exercise had a lower circulating extracellular vesicle amount in comparison to those with a sedentary lifestyle. This pilot study demonstrates how the high amount of circulating extracellular vesicles in children with obesity affects the bone phenotype and that physical activity can partially rescue this phenotype.
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Vesículas Extracelulares , Células Madre Mesenquimatosas , Obesidad Infantil , Humanos , Osteogénesis , Proyectos Piloto , Diferenciación Celular , Adipogénesis , Osteoblastos , Células CultivadasRESUMEN
BACKGROUND: Migraine is the most common neurological disease, with high social-economical burden. Although there is growing evidence of brain structural and functional abnormalities in patients with migraine, few studies have been conducted on children and no studies investigating cortical gyrification have been conducted on pediatric patients affected by migraine without aura. METHODS: Seventy-two pediatric patients affected by migraine without aura and eighty-two controls aged between 6 and 18 were retrospectively recruited with the following inclusion criteria: MRI exam showing no morphological or signal abnormalities, no systemic comorbidities, no abnormal neurological examination. Cortical thickness (CT) and local gyrification index (LGI) were obtained through a dedicated algorithm, consisting of a combination of voxel-based and surface-based morphometric techniques. The statistical analysis was performed separately on CT and LGI between: patients and controls; subgroups of controls and subgroups of patients. RESULTS: Patients showed a decreased LGI in the left superior parietal lobule and in the supramarginal gyrus, compared to controls. Female patients presented a decreased LGI in the right superior, middle and transverse temporal gyri, right postcentral gyrus and supramarginal gyrus compared to male patients. Compared to migraine patients younger than 12 years, the ≥ 12-year-old subjects showed a decreased CT in the superior and middle frontal gyri, pre- and post-central cortex, paracentral lobule, superior and transverse temporal gyri, supramarginal gyrus and posterior insula. Migraine patients experiencing nausea and/or vomiting during headache attacks presented an increased CT in the pars opercularis of the left inferior frontal gyrus. CONCLUSIONS: Differences in CT and LGI in patients affected by migraine without aura may suggest the presence of congenital and acquired abnormalities in migraine and that migraine might represent a vast spectrum of different entities. In particular, ≥ 12-year-old pediatric patients showed a decreased CT in areas related to the executive function and nociceptive networks compared to younger patients, while female patients compared to males showed a decreased CT of the auditory cortex compared to males. Therefore, early and tailored therapies are paramount to obtain migraine control, prevent cerebral reduction of cortical thickness and preserve executive function and nociception networks to ensure a high quality of life.
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Migraña sin Aura , Adolescente , Corteza Cerebral/diagnóstico por imagen , Niño , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Migraña sin Aura/diagnóstico por imagen , Calidad de Vida , Estudios RetrospectivosRESUMEN
PURPOSE: Constitutional delay of growth and puberty (CDGP) treatment include observation or therapy with intramuscular testosterone (IMTT). No data are available about transdermal testosterone gel (TTG). The aim of our study was to analyze the use of TTG in males with CDGP. METHODS: 73 boys with CDGP were divided into three groups: IMTT treated with 50 mg i.m. testosterone; TTG with 10 mg daily 2% testosterone transdermal gel, and no treatment (CNT). All subjects were observed at baseline and after 6 months. RESULTS: The height velocity after treatment were statistically higher in both IMTT and TTG compared to CNT, while CNT showed higher increase of the testicular volume. No other differences were recorded between IMTT and TTG. CONCLUSIONS: To our knowledge this is the first study on use of TTG for pubertal activation on CDGP population. Our preliminary data confirm the efficacy of short-term Testosterone gel treatment to induce puberty compared to conventional treatment.
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Geles/administración & dosificación , Trastornos del Crecimiento/tratamiento farmacológico , Pubertad Tardía/tratamiento farmacológico , Pubertad/fisiología , Maduración Sexual/efectos de los fármacos , Testosterona/administración & dosificación , Adolescente , Andrógenos/administración & dosificación , Estatura , Humanos , Inyecciones Intramusculares , Masculino , Estudios RetrospectivosRESUMEN
BACKGROUND: Male hypogonadism may be associated with micropenis and cryptorchidism in newborn, absent or incomplete pubertal development when it occurs during childhood. During puberty, androgen replacement therapy plays a pivotal role in subjects with hypogonadism to induce sexual maturation, growth acceleration, anabolic effects on fat-free mass growth increasing muscle strength, directly and indirectly on the attainment of peak bone mass in young men. Moreover, in newborns with congenital hypogonadism, androgen therapy could be effective to increase genital size. SUMMARY: Testosterone replacement therapy (TRT) represents the cornerstone of the management of hypogonadism in boys. During puberty, replacement therapy needs to be modulated with gradual dosing increase to better mimic the physiologic pubertal development. Currently, intramuscular testosterone (T) esters (in particular testosterone enanthate) and subcutaneous T pellets are the only formulations approved by the US Food and Drug Administration for delayed puberty, while no preparation is approved for long-term use in the adolescent age. Several new T formulations (as transdermal, nasal, subcutaneous, and oral formulation) are recently developed to improve the pharmacokinetic profile and to ease the administration route increasing patient compliance in adult males with hypogonadism. All these formulations are not approved for pediatric age, although some of them are used as "off-label" regimens. This special issue is aimed to illustrate new T formulations and their potential role as replacement therapy in the pediatric population, as well as to highlight investigational areas to contribute to health care improvement in these patients. KEY MESSAGES: Despite the lack of evidence-based guidelines regarding the choice of T formulation in the pediatric population, new formulations appear to have a potential role for TRT in adolescent age. They have been designed for adult age with a little flexibility of dosage, although a few formulations may be attractive for pubertal induction and penile enlargement thanks to their greater flexibility and easing of administration. On the other hand, long-acting and stable formulations could meet post-pubertal needs, increasing TRT compliance in a critical phase as the adolescent age. Further controlled, long-term safety, and efficacy studies for all these new T formulations within the pediatric population are needed.
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Andrógenos , Hipogonadismo , Adulto , Humanos , Masculino , Niño , Lactante , Recién Nacido , Adolescente , Andrógenos/uso terapéutico , Hipogonadismo/tratamiento farmacológico , Testosterona/uso terapéutico , Pubertad , Maduración Sexual , Terapia de Reemplazo de HormonasRESUMEN
Objective: Since the outbreak of COVID-19 pandemic, several centers of pediatric endocrinology worldwide have observed a significant increase in the number of girls presenting with precocious or early puberty. We aimed to compare the incidence rates of female precocious puberty before and during the different phases of COVID-19 pandemic. Methods: We have retrospectively analyzed all the consultations recorded in the outpatient clinic database of the Endocrinology Unit of Bambino Gesù Children's Hospital, Rome, Italy, from the lockdown start in March 2020 up to September 2020, in comparison with the consultations recorded in the same months of 2019, 2021 and 2022. Age, height, weight, body mass index, Tanner's pubertal stage and bone age at presentation, birth weight, ethnicity, family history of central precocious puberty (CPP), maternal age at menarche, history of adoption were retrieved from clinical records. Serum levels of follicle-stimulating hormone (FSH), luteinizing hormone (LH) both at baseline and after gonadotropin-releasing hormone (GnRH) stimulation, and basal estradiol levels were collected. Results: In 2019, 78 girls with suspected precocious puberty were referred for endocrinological consultation, compared to 202 girls in 2020, 158 girls in 2021 and 112 girls in 2022. A significant increase in the proportion of girls diagnosed with rapidly progressive CPP was observed in 2020, compared to 2019 (86/202 vs. 18/78, p<0.01). In the following periods of 2021 and 2022, a gradual decrease in the number of cases of progressive CPP was evident, so much that the number of cases was not significantly different from that observed in 2019 (56/158 in 2021 and 35/112 in 2022, p=0.054 and p=0.216 respectively, compared to 2019). Conclusions: Our research suggests that drastic lifestyle changes, such as those imposed by COVID-19 lockdown, and the consequent stress may affect the regulation of pubertal timing. The remarkable increase in CPP cases observed during the 2020 first pandemic wave seems to be reduced in 2021 and 2022, concurrently with the progressive resumption of daily activities. These data seem to support the hypothesis of a direct relationship between profound life-style changes related to the pandemic and the rise in precocious puberty cases.
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COVID-19 , Pubertad Precoz , Niño , Femenino , Humanos , Pubertad Precoz/diagnóstico , Pandemias , Estudios Retrospectivos , COVID-19/epidemiología , COVID-19/complicaciones , Control de Enfermedades Transmisibles , Italia/epidemiologíaRESUMEN
Background: The burden of tuberculosis (TB) in Nigeria remains high, and diagnosis in children, a challenge. We aimed to document yield from Xpert Mycobacterium tuberculosis/rifampicin (MTB/RIF) as a mode of diagnosis for children and the variables associated with a positive result. Methods: This was a retrospective review of TB treatment cards of children aged 0-15 years managed from January 2017 to December 2021 across six public tertiary institutions in Nigeria. The data obtained were analyzed using the descriptive and inferential statistics. Statistical significance was set at P < 0.05. Results: Of 1489 children commenced on TB treatment, 1463 (97.9%) had sufficient data for analysis the median age of study participants was 60 months (interquartile range [IQR]: 24, 120), and 814 (55.6%) were males. Xpert MTB/RIF test was performed in 862 (59%) participants and MTB was detected in 171 (19.8%) participants, of which 6.4% (11/171) had RIF resistance reported. The use of Xpert MTB/RIF rose from 56.5% in 2017 to 64% in 2020 but fell to 60.9% in 2021. We found that older age (> 10 years), the presence of pulmonary TB (PTB), and a negative human immunodeficiency virus (HIV) status were associated with positive Xpert MTB/RIF tests (P = 0.002, 0.001, and 0.012, respectively). Conclusion: The utilization of Xpert MTB/RIF in children increased in the years before the COVID-19 pandemic. Factors associated with MTB detection by Xpert MTB/RIF include older age, the presence of PTB, and a negative HIV status. Clinical and radiological evaluation continues to play vital roles in the diagnosis of childhood TB in Nigeria.
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Antibióticos Antituberculosos , COVID-19 , Infecciones por VIH , Mycobacterium tuberculosis , Tuberculosis , Masculino , Humanos , Niño , Preescolar , Femenino , Rifampin/farmacología , Rifampin/uso terapéutico , Mycobacterium tuberculosis/genética , Estudios Retrospectivos , Antibióticos Antituberculosos/farmacología , Antibióticos Antituberculosos/uso terapéutico , Pandemias , Farmacorresistencia Bacteriana , Sensibilidad y Especificidad , Tuberculosis/diagnóstico , Tuberculosis/epidemiología , Tuberculosis/complicaciones , Infecciones por VIH/complicaciones , Infecciones por VIH/epidemiología , Esputo/microbiología , Prueba de COVID-19RESUMEN
BACKGROUND: Several studies have shown that the impact of maternal mental health disorders on newborns' well-being in low and middle-income countries (LMIC) are underreported, multi-dimensional and varies over time and differs from what is reported in high-income countries. We present the prevalence and risk factors associated with common mental disorders (CMDs) among breastfeeding mothers whose infants were admitted to Nigerian tertiary care facilities. METHODS: This was a national cross-sectional study involving mothers of hospitalised babies from eleven Nigerian tertiary hospitals. We used the WHO self-reporting Questionnaire 20 and an adapted WHO/UNICEF ten-step breastfeeding support package to assess mothers' mental health and breastfeeding support. RESULTS: Only 895 of the 1,120 mothers recruited from eleven tertiary healthcare nurseries in six geopolitical zones of Nigeria had complete datasets for analysis. The participants' mean age was 29.9 ± 6.2 years. One in four had CMDs; 24.0% (95% CI: 21.235, 26.937%). The ages of mothers, parity, gestational age at delivery, and length of hospital stay were comparable between mothers with and those without CMDs. Antenatal care at primary healthcare facilities (adjusted odds ratio [aOR:13], primary education [aOR:3.255] living in the south-southern region of the country [aOR 2.207], poor breastfeeding support [aOR:1.467], polygamous family settings [aOR:2.182], and a previous history of mental health disorders [aOR:4.684] were significantly associated with CMDs. In contrast, those from the middle and lower socioeconomic classes were less likely to develop CMDs, with [aOR:0.532] and [aOR:0.493], respectively. CONCLUSION: In Nigeria, the prevalence of CMDs is relatively high among breastfeeding mothers with infants admitted to a tertiary care facility. Prior history of mental illness, polygamous households, mothers living in the southern region and low or no educational attainment have a greater risk of developing CMDs. This study provides evidence for assessing and tailoring interventions to CMDs among breastfeeding mothers in neonatal nurseries in LMIC.
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Lactancia Materna , Trastornos Mentales , Lactante , Humanos , Recién Nacido , Femenino , Embarazo , Adulto Joven , Adulto , Nigeria/epidemiología , Centros de Atención Terciaria , Estudios Transversales , Salas Cuna en Hospital , Madres/psicología , Encuestas y CuestionariosRESUMEN
Objective: This retrospective study aimed to evaluate children observed for suspected precocious puberty in five Italian centers of Pediatric Endocrinology during the first wave of coronavirus disease 2019 pandemic (March-September 2020), compared to subjects observed in the same period of the previous year. Design: The study population (490 children) was divided according to the year of observation and final diagnosis: transient thelarche, non-progressive precocious puberty, central precocious puberty (CPP), or early puberty. Results: Between March and September 2020, 338 subjects were referred for suspected precocious puberty, compared to 152 subjects in the same period of 2019 (+122%). The increase was observed in girls (328 subjects in 2020 vs 140 in 2019, P < 0.05), especially during the second half of the period considered (92 girls from March to May vs 236 girls from June to September); while no difference was observed in boys (10 subjects in 2020 vs 12 in 2019). The percentage of girls with confirmed CPP was higher in 2020, compared to 2019 (135/328 girls (41%) vs 37/140 (26%), P < 0.01). Anthropometric and hormonal parameters in 2019 and 2020 CPP girls were not different; 2020 CPP girls showed more prolonged use of electronic devices and a more sedentary lifestyle both before and during the pandemic, compared to the rest of the 2020 population. Conclusions: The present findings corroborate the recently reported association between the complex lifestyle changes related to the lockdown and a higher incidence of CPP in Italian girls.
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Introduction: the high expectations that heralded the development of COVID-19 vaccines has been plagued with vaccine hesitancy (VH). The prevalence and associated factors of COVID-19 VH in the six geopolitical zones in Nigeria are explored. Methods: using a cross sectional survey, a pre-tested and validated questionnaire on a "Google form" was distributed via social media platforms and hard copies in the six geopolitical zones of Nigeria. Included, using a chain-reference sampling technique, were healthcare workers (HCW), university students and adults in the general population. Participants who expressed unwillingness to receive COVID-19 vaccine in the event of an available vaccine were considered to have vaccine hesitancy. Frequency and percentage were used to describe categorical variables. Multivariable logistic regression analysis was used to assess for factors associated with VH. Level of significance was set at 5% on two-sided tails test. Results: among 1615 respondents, mean (standard deviation) age was 36.7 (11.3) years, and 847 (52.4%) were males. More than half were healthcare workers (943; 58.4%), 97.4% had at least secondary level of education, and majority 60.5% belonged to the upper social class. The prevalence of VH was 68.5% (1107/1615), and 67.2% preferred foreign manufactured COVID-19 vaccines. On multivariable regression analysis, residence in Northeast (AOR 6.01, 95% CI 2.24, 16.10) and Northwest (AOR 3.33, 95% CI 1, 48, 7.48) geopolitical zones, the Igbo ethnic group (AOR 1.88, 95% 1.10, 3.22), Christians (AOR 1.86, 95% 1.10, 3.14), nurses (AOR 3.50, 95% CI 1.25, 9.80), pharmacist (AOR 5.82, 95% CI 2.12, 16.32) and participants without confidence in foreign vaccines (AOR 4.13, 95% CI 2.99, 5.72) were at higher likelihood of VH. Conclusion: vaccine hesitancy is high among adults in Nigeria, with higher likelihood among the Igbo ethnic group, Christian faith, residence in Northeast and Northwest geopolitical zones and those with an aversion to foreign-made vaccines. Targeted interventions are required for the desired COVID-19 vaccine uptake rate and herd immunity.
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Vacunas contra la COVID-19 , COVID-19 , Adulto , COVID-19/epidemiología , COVID-19/prevención & control , Estudios Transversales , Femenino , Humanos , Masculino , Nigeria/epidemiología , Vacilación a la VacunaciónRESUMEN
At the end of 2019, an emerging atypical pneumonia called COVID-19 (coronavirus disease 2019), caused by the novel coronavirus defined as SARS-CoV-2 (Severe Acute Respiratory Syndrome Coronavirus 2), was first reported. COVID-19 rapidly expanded leading to an epidemic in China, followed by a global pandemic during the year 2020. In few weeks Italy was assaulted by a severe health emergency, constraining the Italian government to put in place extraordinary restrictive measures, such as school closures and a strict lockdown extended to the entire country at the beginning of March 2020. Since the beginning of lockdown, the Endocrinology Unit of Bambino Gesù Children's Hospital has recorded a rapid increase of the outpatient consultations for suspected precocious or early puberty. We have now retrospectively analyzed all the consultations recorded in the database of our outpatient clinic from March to September 2020, and compared them with the consultations recorded in the same database from March to September 2019. Our preliminary data suggest a significant increase of precocious puberty cases in girls during the first period of COVID-19 pandemic. Further investigations in larger cohorts of children are needed in order to correlate the observed increase of precocious puberty with specific pathogenic factors.
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COVID-19/epidemiología , Control de Enfermedades Transmisibles , Pandemias , Pubertad Precoz/epidemiología , Cuarentena , Niño , Femenino , Humanos , Italia/epidemiología , Estudios Retrospectivos , Centros de Atención TerciariaRESUMEN
Background: The management of children and adolescents with chronic kidney disease (CKD) and growth failure candidate for recombinant human growth hormone therapy (rhGH) is based on an appraisal of the literature established on a 2006 consensus statement and 2019 Clinical practice recommendations. The performance of these guidelines has never been tested. Aims: The objective of this study was to establish the level of adherence to international guidelines based on the 2006 consensus and the 2019 criteria that lead to the initiation of growth hormone treatment by both pediatric endocrinologists and pediatric nephrologists. Methods: A multidisciplinary team of pediatric endocrinologists and pediatric nephrologists, members of the Italian Society of Pediatric Endocrinology or of the Italian Society of Pediatric Nephrology, discussed and reviewed the main issues related to the management of pediatric patients with CKD who need treatment with rhGH. Experts developed 11 questions focusing on risk assessment and decision makings in October 2019 and a survey was sent to forty pediatric endocrinologists (n = 20) and nephrologists (n = 20) covering the whole national territory. The results were then analyzed and discussed in light of current clinical practice guidelines and recent recommendations. Results: Responses were received from 32 of the 40 invited specialists, 17 of whom were pediatric endocrinologists (42.5%) and 15 pediatric nephrologists (37.5%). Although all the centers that participated in the survey agreed to follow the clinical and biochemical diagnostic work-up and the criteria for the treatment of patients with CKD, among the Italian centers there was a wide variety of decision-making processes. Conclusions: Despite current guidelines for the management of children with CKD and growth failure, its use varies widely between centers and rhGH is prescribed in a relatively small number of patients and rarely after kidney transplantation. Several raised issues are not taken into account by international guidelines and a multidisciplinary approach with mutual collaboration between specialists will improve patient care based on their unmet needs.
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Trastornos del Crecimiento/complicaciones , Trastornos del Crecimiento/tratamiento farmacológico , Hormona de Crecimiento Humana/uso terapéutico , Insuficiencia Renal Crónica/complicaciones , Adolescente , Niño , Manejo de la Enfermedad , Testimonio de Experto , Adhesión a Directriz , Terapia de Reemplazo de Hormonas , Humanos , Guías de Práctica Clínica como AsuntoRESUMEN
OBJECTIVES: It has been already confirmed that retinal neurodegeneration has a predictive value in the development of microvascular alterations in diabetic retinopathy. However, no data are available on the association between neuroretinal dysfunction and peripheral motor unit loss. Our study, therefore, was aimed at investigating the hypothesis that retinal neurodegeneration could be considered an early marker of diabetic peripheral neuropathy (DPN). METHODS: 20 T1DM patients with no symptoms/signs of peripheral polyneuropathy, without DR or with very mild nonproliferative DR, and 14 healthy controls (C) age- and gender-matched were enrolled. The following electrophysiological tests were performed: standard nerve conduction studies (NCS) and incremental motor unit number estimation (MUNE) from the abductor hallux (AH) and abductor digiti minimi (ADM). Neuroretinal function was studied by multifocal electroretinogram (MfERG) recordings, measuring response amplitude density (RAD) and implicit time (IT) from rings and sectors of superior (S)/inferior (I)/temporal (T)/nasal (N) macular sectors up to 10 degrees of foveal eccentricity. RESULTS: MfERG RADs from rings and sectors were significantly reduced in T1DM (p < 0.05) vs. C. ADM MUNE and AH MUNE were significantly decreased in T1DM (p = 0.039 and p < 0.0001, respectively) vs. C. A positive correlation between mean MfERG RADs from the central 5 degrees of the four (S, I, T, and N) macular sectors and lower limb motor unit number (r = 0.50, p = 0.041; r = 0.64, p = 0.005; r = 0.64, p = 0.006; and r = 0.61, p = 0.010, respectively) was observed in T1DM patients. No abnormalities of NCS were found in any subject. CONCLUSIONS: The motor unit loss on the one hand and neuroretinal dysfunction on the other hand are already present in T1DM patients without DPN. The relationship between neuroretinal dysfunction and motor unit decline supports the hypothesis that neuroretina may represent a potential "window" to track the early neurogenic damage in diabetes.
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Diabetes Mellitus Tipo 1/fisiopatología , Neuropatías Diabéticas/fisiopatología , Retinopatía Diabética/fisiopatología , Conducción Nerviosa/fisiología , Adulto , Diabetes Mellitus Tipo 1/patología , Neuropatías Diabéticas/patología , Retinopatía Diabética/patología , Electrodiagnóstico , Electromiografía , Electrorretinografía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Músculo Esquelético/patología , Músculo Esquelético/fisiopatología , Retina/patología , Retina/fisiopatología , Adulto JovenRESUMEN
AIMS: To describe the characteristics and associated risk factors of patients with established diabetes who required Emergency Department (ED) care for severe hypoglycemia. METHODS: We performed an observational retrospective study to identify all cases of severe hypoglycemia among attendees at the EDs of three Italian University hospitals from January 2010 to December 2014. RESULTS: Overall, 520 patients with established diabetes were identified. Mean out-of-hospital blood glucose concentrations at the time of the hypoglycemic event were 2.2 ± 1.3 mmol/L. Most of these patients were frail and had multiple comorbidities. They were treated with oral hypoglycemic drugs (43.6%), insulin (42.8%), or both (13.6%). Among the oral hypoglycemic drugs, glibenclamide (54.5%) and repaglinide (25.7%) were the two most frequently used drugs, followed by glimepiride (11.3%) and gliclazide (7.5%). Hospitalization rates and in-hospital deaths occurred in 35.4% and in 2.3% of patients, respectively. Cirrhosis (odds ratio [OR] 6.76, 95% confidence interval [CI] 1.24-36.8, p < 0.05), chronic kidney disease (OR 2.42, 95% CI 1.11-8.69, p < 0.05) and center (Sapienza University OR 3.70, 95% CI 1.57-8.69, p < 0.05) were the strongest predictors of increased rates of hospital admission. CONCLUSIONS: Severe hypoglycemia is a remarkable burden for patients with established diabetes and increases the risk of adverse clinical outcomes (in-hospital death and hospitalization), mainly in elderly and frail patients. This study further reinforces the notion that careful attention should be taken by health care providers when they prescribe drug therapy in elderly patients with serious comorbidities.
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Since obesity seems to play a causal role in both obstructive sleep apnea/hypopnea syndrome (OSAHS) and type 2 diabetes, the question arises whether diet-induced weight loss is equally efficacious in type 2 diabetic patients with and without OSAHS. The present study was aimed to investigate the effect of 1 week very low calorie diet (VLCD) on oxygen desaturation index (ODI) and on glucose regulation in OSAHS versus non-OSAHS patients. Fourteen patients with type 2 diabetes mellitus and morbid obesity were enrolled. According to ODI, patients were divided into 2 groups (with and without OSAHS) and evaluated by a hyperglycemic clamp study, before and after a 7 day-VLCD. After a VLCD, a significant reduction of anthropometric parameters, in the overall group and in subgroups, was observed. M-value and acute insulin response increased significantly only in patients without obstructive sleep apnea (990.10 ± 170.19 vs. 1,205.22 ± 145.73 µmol min(-1) m(-2), p = 0.046; -1.05 ± 8.40 vs. 48.26 ± 11. 90 pmol/L, p = 0.028, respectively). The average 24-h heart rate (24-h HR) fell significantly (p = 0.05), primarily because of a decrease during daytime (p = 0.041), in the whole group. In conclusion, we observed that morbidly obese patients with type 2 diabetes and OSAHS are specifically resistant to the acute beneficial effects of VLCD on metabolic parameters. Our preliminary observation deserves further investigation to clarify the pathogenetic mechanisms involved.
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Restricción Calórica , Diabetes Mellitus Tipo 2/dietoterapia , Obesidad/dietoterapia , Apnea Obstructiva del Sueño/dietoterapia , Diabetes Mellitus Tipo 2/metabolismo , Femenino , Humanos , Masculino , Persona de Mediana Edad , Obesidad/metabolismo , Apnea Obstructiva del Sueño/metabolismoRESUMEN
Here we present the case of a 60-year-old woman with a rare sellar region atypical teratoid/rhabdoid tumor (AT/RT), complicated by lung metastasis and treated with neurosurgery, radiotherapy, and chemotherapy. The patient had recurrent headache associated with left cavernous sinus syndrome after a previous endonasal transsphenoidal resection for a presumptive pituitary macroadenoma. Pituitary magnetic resonance imaging showed a tumor regrowth in the original location with a haemorrhagic component involving the left cavernous sinus. A near complete transsphenoidal resection of the sellar mass was performed followed by 3 months of stereotactic radiotherapy. Because of a worsening of the general clinical conditions, respiratory failure, and asthenia, the patient underwent a contrast enhanced computer tomography of the whole body which showed the presence of lung metastasis. The histopathological diagnosis on samples from pituitary and lung tissues was AT/RT. The patient survived 30 months after diagnosis regardless chemotherapy. In the adult, the AT/RT should be considered as a possible rare, aggressive, and malignant neoplasm localized in the sella turcica.
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INTRODUCTION: Sertoli-Leydig cell tumors (SLCTs) are rare tumors mostly occurring in young women. Here we report an unusual case of a SLCT with simultaneous occurrence of endometrioid adenocarcinoma of the endometrium in a woman in menopause. CASE REPORT: A 67-year-old woman presented with progressive signs of virilization. Blood tests showed increased levels of testosterone, delta-4-androstenedione, and dehydroepiandrosterone (DHEA). DHEA-sulphate, 17ß-estradiol, estrone, and sex-hormone binding globulin serum levels were within the normal range. Magnetic resonance imaging revealed a solid mass of 2.7 × 2.9 cm in the right ovary set against the background of the uterus. The patient underwent bilateral salpingo-oophoretomy with hysterectomy. The mass in the right ovary was a differentiated SLCT. Incidentally, the endometrium revealed an endometrioid adenocacinoma. Following surgical treatment the plasma androgens dropped to normal levels, and signs and symptoms of virilization improved. CONCLUSION: SLCT should be suspected in postmenopausal women who present rapid progressive androgen excess symptoms with hyperandrogenemia.