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1.
Clin Radiol ; 79(2): e317-e324, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38065775

RESUMEN

AIM: To compare chest radiography (CXR) findings in human immunodeficiency virus (HIV)-positive and HIV-negative children who had microbiologically confirmed pulmonary tuberculosis (PTB). MATERIALS AND METHODS: Retrospective analysis of CXRs from children with known HIV status and microbiologically confirmed PTB (culture or GeneXpert Xpert MTB/RIF positive), who were hospitalised or seen at a primary healthcare centre over a 5-year period. Radiological findings were compared according to HIV and nutritional status. RESULTS: CXRs of 130 children were analysed from 35 (27%) HIV- positive and 95 (73%) HIV-negative children with confirmed PTB, median age 45.7 months (interquartile range [IQR] 18-81.3 months). CXR changes consistent with PTB were reported in 21/35 (60%) of HIV-positive and 59/95 (62%) of HIV-negative patients, (p=0.81). Normal CXR was identified in 3/35 (8.6%) of HIV-positive and 5/95 (5.3%) of HIV-negative patients (p=0.81). Airway compression was present in 3/35 (8.6%) of HIV-positive and 7/95 (7.4%) of HIV-negative patients (p>0.99). Overall, lymphadenopathy was identified in 42/130 (32.3%) of patients, 11/35 (31.4 %) were HIV-positive compared with 31/95 (32.6%) HIV-negative patients. Airspace consolidation was present in 60% of both HIV-positive (21/35) and HIV-negative patients (57/95). Pleural effusion was present in 2/35 (5.7 %) of HIV-negative and 9/95 (9.5 %) of HIV-negative patients. There were no statistically significant radiological differences by HIV group. CONCLUSION: There were no significant differences in the CXR findings between the HIV-positive and HIV-negative children with confirmed PTB.


Asunto(s)
Infecciones por VIH , Tuberculosis Pulmonar , Niño , Humanos , Lactante , Preescolar , Estudios Retrospectivos , Esputo , Tuberculosis Pulmonar/complicaciones , Tuberculosis Pulmonar/diagnóstico por imagen , Infecciones por VIH/complicaciones , Infecciones por VIH/diagnóstico por imagen , VIH
2.
Clin Radiol ; 79(4): 303-311, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38310059

RESUMEN

AIM: To determine the frequency and classification of addenda seen in paediatric brain magnetic resonance imaging (MRI) reports. MATERIALS AND METHODS: A retrospective review of the addenda of brain MRI reports from a large tertiary children's hospital was undertaken between January 2013 to December 2021 and a subset of above radiology reports was used to classify addenda over 6-month periods, October to March, spanning 2018 to 2021. A radiology fellow and a medical doctor classified the addenda into previously published categories using their best judgement. RESULTS: Out of 73,643 brain MRI reports over 9 years (108 months) included in the study, only 923 reports (1.25%) had addenda. There was a total of 13,615 brain MRI reports from 6-month periods, of which only 179 reports (1.31%) had an addendum. The number of errors according to categories were: observational 88/13,615 (0.65%); interpretational 16/13,615 (0.12%); non-observational and non-interpretative 82/13,615 (0.6%). Notifications to referring physician made in 29/13,615 (0.21%). CONCLUSIONS: The overall proportion of addenda to the brain MRI reports of children in the present study was low, at 1.25%. Categorisation of different addenda revealed the most common errors to be observational in 0.65%, including under-reading in the region of interest in 0.25%. Appropriate measures can now be introduced to minimise the error-based addenda further and improve MRI diagnosis in children. Other paediatric practices may choose to follow suit in evaluating their addenda and errors to improve practice.


Asunto(s)
Imagen por Resonancia Magnética , Radiología , Humanos , Niño , Errores Diagnósticos , Informe de Investigación , Estudios Retrospectivos
3.
Clin Radiol ; 78(8): 576-583, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-37308350

RESUMEN

AIM: To generate standardised coronal minimum intensity projection (MinIP) computed tomography (CT) reconstructions, and compare these with flexible bronchoscopy in children with lymphobronchial tuberculosis (LBTB). MATERIALS AND METHODS: Standardised coronal MinIP reconstructions were performed from CT images in children with LBTB and the findings of three readers were compared with the reference standard, flexible bronchoscopy (FB), regarding airway narrowing. Intraluminal lesions, the site of the stenosis, and the degree of stenosis were also evaluated. The length of stenosis was evaluated by CT MinIP only. RESULTS: Sixty-five children (38 males; 58.5% and 27 females; 41.5%), with ages ranging from 2.5 to 144 months were evaluated. Coronal CT MinIP demonstrated a sensitivity of 96% and specificity of 89% against FB. The most common site of stenosis was the bronchus intermedius (91%), followed by the left main bronchus (85%), the right upper lobe bronchus RUL (66%), and the trachea (60%). CONCLUSION: Coronal CT MinIP reconstruction is useful in demonstrating airway stenosis in children with lymphobronchial TB, with high sensitivity and specificity. CT MinIP had additional advantages over FB in that it allowed objective measurement of the diameter of stenosis, measurement of the length of stenosis, and evaluation of post-stenotic segments of the airways and lung parenchymal abnormalities.


Asunto(s)
Broncoscopía , Tuberculosis , Masculino , Femenino , Humanos , Niño , Broncoscopía/métodos , Constricción Patológica/diagnóstico por imagen , Tomografía Computarizada por Rayos X/métodos , Bronquios/diagnóstico por imagen
4.
Clin Radiol ; 77(11): 825-832, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-35649736

RESUMEN

AIM: To compare frequency and distribution of deep nuclei involvement in isolated basal ganglia and ventrolateral thalamus (BGT) versus combined BGT and watershed (BGT-WS) hypoxic-ischaemic injury (HII). MATERIALS AND METHODS: A retrospective review was undertaken of the magnetic resonance imaging (MRI) reports of children (0-18 years) with isolated BGT or combined BGT-WS HII. The location and extent of deep nuclear injuries were compared between groups using Fisher's exact test. RESULTS: Of 762 MRI reports, 435 (57%) had isolated BGT and 327 (43%) combined BGT-WS. Isolated BGT showed basal ganglia involvement in 85.1% (n=370) versus 49.8% (n=163) for combined BGT-WS (p<0.01). Sole putamen lesions were more common in isolated BGT (70.3%; 306) versus combined (19.3%; 63; p<0.01). Thalamic involvement was similar between isolated BGT (93.8%; 408) and combined BGT-WS (96.9%; 317; p>0.05). Sole ventrolateral nucleus involvement was more common in isolated BGT (66.6%; 291) while sole pulvinar lesions (25.1%; 82) and whole thalamus lesions (41.6%; 136) were more common in combined BGT-WS (p<0.01). Putamen and ventrolateral nucleus was the most frequent BGT lesion combination in isolated BGT (55.4%) but not in combined BGT-WS (8.6%; p<0.01). CONCLUSION: Variations in the frequency of deep nuclear lesions between groups may reflect different underlying pathogenetic mechanisms. Therefore, combined BGT-WS patterns may not necessarily indicate a superimposed profound on partial prolonged HII, as other causes such as neonatal hypoglycaemia may cause these.


Asunto(s)
Parálisis Cerebral , Hipoxia-Isquemia Encefálica , Ganglios Basales/diagnóstico por imagen , Ganglios Basales/patología , Parálisis Cerebral/etiología , Parálisis Cerebral/patología , Niño , Humanos , Hipoxia/complicaciones , Hipoxia-Isquemia Encefálica/diagnóstico por imagen , Recién Nacido , Isquemia/complicaciones , Imagen por Resonancia Magnética/efectos adversos , Tálamo/diagnóstico por imagen , Tálamo/patología
5.
Clin Radiol ; 76(2): 122-128, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-33010931

RESUMEN

AIM: To determine interobserver agreement between paediatric radiologists interpreting tuberculosis (TB) screening chest radiographs (CXR) in children in the UK, and the TB detection rate. MATERIALS AND METHODS: A retrospective review was undertaken of electronic request, notes, and CXRs (>7 years) in children exposed to an infectious case of TB and new entrants to the UK, at a tertiary children's hospital. Included were those with positive Mantoux/interferon gamma release assay (IGRA), positive culture, or high clinical suspicion of TB. CXR reports were categorised as normal, abnormal without features of TB, or abnormal with features of pulmonary TB. Three paediatric radiologists from a dedicated paediatric radiology department evaluated available CXRs, aware of the TB screening indication, using a published CXR reporting tool and blinded to the initial CXR report and to each other. A majority decision was collated, and considered lymphadenopathy and miliary nodules as diagnostic of primary TB. Interobserver agreement was calculated using Cohen's kappa. RESULTS: One hundred and forty-eight children underwent TB screening with a CXR. One hundred and twenty-five had available CXR reports and case notes, which indicated 20/125 (16%) had CXR features of TB. One hundred and twenty-one of the 125 had CXRs available to for panel review. Twenty of these 121 (17%) yielded a majority decision of pulmonary TB. Inter-reader agreement was moderate in all aspects (kappa 0.4-0.6). CONCLUSION: The high percentage of pulmonary TB on CXR (16% original reports; 17% by panel review) suggests that it is worthwhile investigating childhood TB contacts; however, the routine use and recommendation for CXR is questionable because of only moderate interpretation reliability (kappa 0.5), even by experts.


Asunto(s)
Radiografía Torácica/métodos , Migrantes/estadística & datos numéricos , Tuberculosis Pulmonar/diagnóstico por imagen , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Pulmón/diagnóstico por imagen , Masculino , Reproducibilidad de los Resultados , Estudios Retrospectivos , Reino Unido
6.
Clin Radiol ; 76(4): 315.e1-315.e7, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33558027

RESUMEN

AIM: To determine the normal range of head and neck lymph nodes in a paediatric population. MATERIALS AND METHODS: A retrospective review was undertaken of 200 brain magnetic resonance imaging (MRI) examinations in patients aged between 5 months to 16 years. Exclusion criteria included possible causes for lymphadenopathy. Studies were reported previously as normal. Eight regions were assessed for the presence of nodes, short and long axis of the largest node measured, and the ratio was calculated. RESULTS: Most commonly identifiable nodes were the deep cervical, submandibular, and posterior cervical in 100%, 99.5%, and 92.5% of studies. In the long axis, the three largest were the submandibular, deep, and posterior cervical with mean values of 19.7, 18.1, and 15.4 mm, respectively. For the S/L ratio, the three with the most oval shape were the pre-auricular, occipital, and submental with ratios of 0.64, 0.63, and 0.6, respectively. A positive correlation between the occipital and deep cervical lymph node groups with age was found to be stronger than the rest of localisations. CONCLUSION: This study characterises the normal distribution, size, and shape of head and neck lymph nodes in a healthy paediatric population, demonstrating that rounder and larger lymph nodes may be a normal finding, depending on their location and patient age.


Asunto(s)
Cabeza/diagnóstico por imagen , Ganglios Linfáticos/anatomía & histología , Ganglios Linfáticos/diagnóstico por imagen , Cuello/diagnóstico por imagen , Adolescente , Factores de Edad , Niño , Preescolar , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Valores de Referencia , Estudios Retrospectivos
7.
Clin Radiol ; 76(3): 163-171, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-33097229

RESUMEN

Term neonatal bowel obstruction is common, and absence of treatment is potentially catastrophic. There is a relatively narrow differential diagnosis, with causes categorised as either low or high bowel obstruction. The commonest causes of low bowel obstruction include anorectal malformations (ARM), Hirschsprung's disease, ileal atresia, meconium ileus, meconium plug, and colonic atresia. The commonest causes of high bowel obstruction include duodenal atresia, duodenal stenosis/web, jejunal atresia, and malrotation with volvulus (and hypertrophic pyloric stenosis usually presenting in slightly older infants). Diagnosis can be decided using a step-wise binary decision tool that includes the appropriate imaging steps and evaluation of bowel calibre. This paper presents the decision-making tool from the presenting features, through plain radiographic findings and, where necessary, the additional radiological investigations to assist the general radiologist, novice paediatric radiologist and paediatric surgeon. The tool is pictorial, with the radiological findings accompanied by eight schematics, serving as a simplified visual aid for memorizing the imaging patterns of the differential diagnosis. The imaging and decision-making steps allow for a rapid, simplified diagnosis that can benefit patients by recommending when to perform surgery, when to perform further imaging, and when imaging can act in a therapeutic manner.


Asunto(s)
Toma de Decisiones Clínicas/métodos , Diagnóstico por Imagen/métodos , Obstrucción Intestinal/diagnóstico por imagen , Humanos , Recién Nacido , Intestinos/diagnóstico por imagen
8.
Clin Radiol ; 75(1): 77.e1-77.e13, 2020 01.
Artículo en Inglés | MEDLINE | ID: mdl-31526539

RESUMEN

AIM: To review the literature on the imaging appearances of neurocysticercosis (NCC) and human immunodeficiency virus (HIV) co-infection and compare it with the local cases. MATERIALS AND METHODS: Data from both published and local cases were analysed. HIV-infected cases were divided into "low" (<200 cells/mm3) and "high" (≥200 cells/mm3) CD4 groups. These groups were compared and the effect of treatment was evaluated. RESULTS: Thirty-three cases were evaluated: 20 of the local cases and 13 published cases. The published cases had parenchymal brain cysts, whereas the local cases had both parenchymal and subarachnoid cysts (p=0.0050). The published cases also had intra-axial cysts, whereas the local cases had both intra- and extra-axial cysts (p=0.012). The published cases had predominantly cystic lesions, whereas the local cases had both cystic and granulomatous lesions (p=0.019). There were no differences between cases with a CD4 count of <200 cells/mm3 and cases with a CD4 count of ≥200 cells/mm3, but interestingly, 3% of the cases with a CD4 count of <500 cells/mm3, compared with 50% of the cases with a CD4 count of ≥500 cells/mm3, had racemose cysts. CONCLUSION: NCC is very prevalent in South Africa and may complicate the diagnosis and treatment of patients with concomitant HIV infection. Patients with a "low" CD4 count may present with atypical lesions, delaying the diagnosis of NCC. Early initiation of highly active anti-retroviral therapy (HAART) may result in patients presenting with more classical symptoms and imaging appearances, thus improving outcomes.


Asunto(s)
Coinfección/epidemiología , Infecciones por VIH/epidemiología , Imagen por Resonancia Magnética , Neurocisticercosis/diagnóstico por imagen , Neurocisticercosis/epidemiología , Tomografía Computarizada por Rayos X , Humanos , Sudáfrica/epidemiología
9.
Clin Radiol ; 74(9): 737.e3-737.e15, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31280883

RESUMEN

AIM: To explore the distribution patterns and extent of chronic recurrent multifocal osteomyelitis (CRMO) using whole-body magnetic resonance imaging (WBMRI). MATERIALS AND METHODS: Children with established diagnoses of CRMO, who had undergone WBMRI, had their images reviewed by three radiologists using a novel pictorial mapping system for determining lesion load and distribution patterns. RESULTS: Thirty-seven children (mean 12 years; range 2-18 years) had 317 lesions (8.6 lesions per patient [LPP]; range 2-27). Multifocal involvement was noted in 33 (89%) and unifocal in four (11%). The tibia was most frequently involved (68% of patients; 29% of lesions). Clavicular involvement was noted in 38% and spinal lesions in 19% of patients. Bilateral disease involved the fibulas (80%), tibias (68%), and foot phalanges (67%) most frequently. In 93% of bilateral disease, there was also symmetry. A "tibio-appendicular multi-focal pattern" (tibial but no clavicular involvement) was present in 54% whereas a "claviculo-spinal pauci-focal pattern" (clavicular lesions, no tibial involvement; few additional lesions mainly of the spine) was present in 24%. Only 14% had synchronous involvement of the clavicle and tibia. In the long bones, 65% of lesions were metaphyseal (distal metaphysis 42%) and 35% epiphyseal (173 peri-physeal lesions). Epiphyseal lesions were minimal in 60% whereas metaphyseal lesions were extensive in 75%. Sixty-six percent of tibial symmetric lesions and 100% of symmetric lesions of the radius, humerus, and ulna were of equal severity. CONCLUSION: CRMO lesions are often multifocal and can have typical long bone distal metaphyseal locations. Two main phenotypic patterns have emerged: multifocal predominantly tibial involvement or pauci-focal clavicular and spinal disease.


Asunto(s)
Imagen por Resonancia Magnética/métodos , Osteomielitis/diagnóstico por imagen , Imagen de Cuerpo Entero , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Fenotipo
10.
Clin Radiol ; 73(5): 506.e1-506.e8, 2018 05.
Artículo en Inglés | MEDLINE | ID: mdl-29397912

RESUMEN

AIM: To compare "selective duodenograms" performed through nasogastric tubes advanced into the proximal duodenum against traditional contrast studies regarding visualisation of a first-pass bolus distention of the duodenum and frequency of inconclusive results. MATERIALS AND METHODS: Retrospective comparison of "selective duodenograms" and traditional upper gastrointestinal contrast studies in neonates with bile-stained vomiting, regarding demonstration of the duodenal C-loop, first-pass bolus capture, degree of distention of the duodenum, and number of inconclusive studies. Statistical comparison was performed using the two-tailed Fishers exact and chi-squared tests. RESULTS: There were 31 "selective duodenograms" and 70 traditional studies. The C-loop was demonstrated in 93% of traditional studies versus 100% in "selective duodenograms" and was demonstrated significantly more often during the first-pass (94% versus 73%; p=0.018) and more often with distention of the duodenum for "selective duodenography" (94% versus 56%, p<0.001). There were more inconclusive traditional studies (7% versus 3%; non-significant). CONCLUSION: Emergency upper gastrointestinal tract studies performed in neonates using the "selective duodenogram" technique demonstrated the duodenum with 100% success, with significantly more frequent first-pass bolus visualisation and duodenal distention than traditional studies. The five (7%) inconclusive traditional studies, present a significant diagnostic conundrum in the emergency setting because emergency surgery must be contemplated without proof.


Asunto(s)
Bilis , Duodeno/diagnóstico por imagen , Vólvulo Intestinal/diagnóstico por imagen , Vómitos , Medios de Contraste , Estudios Transversales , Diagnóstico Diferencial , Femenino , Fluoroscopía , Humanos , Lactante , Recién Nacido , Masculino , Radiografía Abdominal , Estudios Retrospectivos
11.
Clin Radiol ; 72(6): 519.e1-519.e9, 2017 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-28236438

RESUMEN

AIM: To assess the impact of introducing a chest radiograph reading and recording system (CRRS) with a short training session, on the accuracy and inter-reader variability of tuberculosis (TB) interpretation of chest radiographs (CXRs) by a group of non-expert readers in a human immunodeficiency virus (HIV)-positive cohort. MATERIALS AND METHODS: A set of 139 CXRs was reviewed by a group of eight physicians pre- and post-intervention at two clinics in Shan State, Myanmar, providing HIV/TB diagnosis and treatment services. The results were compared against the consensus of expert radiologists for accuracy. RESULTS: Overall accuracy was similar pre- and post-intervention for most physicians with an average area under the receiver operating characteristic curve difference of 0.02 (95% confidence interval: -0.03, 0.07). The overall agreement among physicians was poor pre- and post-intervention (Fleiss κ=0.35 and κ=0.29 respectively). The assessment of agreement for specific disease patterns associated with active TB in HIV-infected patients showed that for intrinsically subtle findings, the agreement was generally poor but better for the more intrinsically obvious disease patterns: pleural effusion (Cohen's kappa range = 0.37-0.67) and milliary nodular pattern (Cohen's kappa range = 0.25-0.52). CONCLUSION: This study demonstrated limited impact of the introduction of a CRRS on CXR accuracy and agreement amongst non-expert readers. The role in which CXRs are used for TB diagnosis in a HIV-positive cohort in similar clinical contexts should be reviewed.


Asunto(s)
Radiografía Torácica , Tuberculosis Pulmonar/diagnóstico por imagen , Seropositividad para VIH/complicaciones , Humanos , Sensibilidad y Especificidad , Tuberculosis Pulmonar/complicaciones
12.
Horm Metab Res ; 46(13): 911-20, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25473824

RESUMEN

Recent studies in USA, Europe, and across the world have revealed a continuous increase of mean birth weight in the last 2 decades. Strong evidence exists from several studies indicating that individuals born with a low birth weight are more likely to present cardiometabolic complications in later life. So far, the long-term consequences of high birth weight have not been clearly defined. This review examines the role of high birth weight on the development of cardiometabolic consequences (obesity, body composition, type 2 diabetes mellitus, and cardiovascular disease) in childhood and adulthood. The majority of the studies show that high BW is associated with an increased risk for obesity. To a certain extent high birth weight affects diseases of the heart and circulatory, but does not constitutes a risk for the development of type 2 diabetes mellitus in the general population. Maternal glycemia and the subsequent fetus hyperinsulinemia appear to be the key component for increased fetal growth. With the increase in incidence of diabetes mellitus and obesity over the years, the number of high birth weight infants is likely to increase. The elucidation of the relationship between high birth weight and the cardiometabolic disorders will be particularly important.


Asunto(s)
Peso al Nacer , Enfermedades Cardiovasculares/metabolismo , Diabetes Mellitus Tipo 2/metabolismo , Anciano , Presión Sanguínea , Composición Corporal , Enfermedades Cardiovasculares/epidemiología , Diabetes Mellitus Tipo 2/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Factores de Tiempo
14.
S Afr J Surg ; 52(2): 36-40, 2014 Jun 06.
Artículo en Inglés | MEDLINE | ID: mdl-25216093

RESUMEN

INTRODUCTION: Breast lesions that appear benign on ultrasound examination continue to be biopsied, and no relevant data from Africa exist. OBJECTIVE: To determine the histological spectrum of sonographically benign lesions measuring >3 cm in women in Johannesburg, South Africa, by age and population group, and establish associations between the histological findings and the size of the lesion and the patient's HIV status and family history. METHODS: Biopsy results of breast masses that appeared benign on ultrasound were reviewed and the prevalence of histological subtypes was determined according to HIV status and family history. The Kruskal-Wallis test and separate logistic regression analysis were used for determining associations with size. RESULTS: Sixty-eight of a total of 13 112 patients seen over a 3.5-year-period were included;. There were 73 lesions, of which 65 (89.0%) were benign and 8 (11.0%) malignant. The most common lesions were fibroadenomas (60.3%) and breast carcinomas (6.8%). Size did not predict malignancy (p=0.22). Family history and HIV status were not significant. CONCLUSION: A high proportion (11.0%) of lesions that appeared benign on ultrasound were malignant. The size of the lesion did not correlate with histological subtype or malignancy. Further research, including training of ultrasonographers in using the Breast Imaging Reporting and Data System (BIRADS) ultrasound lexicon, standardisation of technique with assistance from established users and possibly double reading for a period, is needed to determine whether there is a true high prevalence of malignancy in sonographically benign breast lesions in our community.


Asunto(s)
Biopsia , Población Negra , Neoplasias de la Mama/patología , Mama/patología , Ultrasonografía Mamaria , Adulto , Neoplasias de la Mama/diagnóstico por imagen , Neoplasias de la Mama/etnología , Diagnóstico Diferencial , Femenino , Humanos , Estudios Retrospectivos , Sudáfrica
15.
Horm Metab Res ; 45(3): 226-30, 2013 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-22990991

RESUMEN

This study was designed to examine differences in serum 25(OH)D levels between small-for-gestational-age (SGA) and appropriate-for-gestational-age (AGA) prepubertal children in correlation with birth weight and indices of insulin resistance and ß-cell function. Sixty-five nonobese children were examined at age 5-7.5 years; 27 born SGA and 38 matched AGA. Body weight, height, BMI, and waist circumference were recorded and fasting serum levels of glucose, insulin, 25(OH)D, and parathyroid hormone (PTH) were measured. The homeostasis model assessment for insulin resistance (HOMA-IR) and the ß-cell function index (HOMA-ß%) were estimated. The mean level of 25(OH)D was higher in the SGA group (26.2±10 vs. 17.2±7 ng/ml, p<0.01) but that of PTH was no different. The insulin resistance and ß-cell function indices were higher in the SGA group: HOMA-IR 1.34±0.67 vs. 0.99±0.53, and HOMA-ß% 135±56 vs. 97±60 in the SGA and AGA groups, respectively. In the SGA group, 25(OH)D was correlated with HOMA-ß% but not with HOMA-IR or insulin. In multiple regression, in the total cohort 25(OH)D and HOMA-IR were independently negatively correlated with birth weight (ß= - 0.31, ß= - 0.36, p<0.05) respectively. In conclusion, at prepuberty severely in utero growth restricted children have increased birth weight dependent levels of 25(OH)D, which might exert a regulatory role on ß-cell function.


Asunto(s)
Recién Nacido Pequeño para la Edad Gestacional/sangre , Recién Nacido Pequeño para la Edad Gestacional/crecimiento & desarrollo , Resistencia a la Insulina , Vitamina D/sangre , Antropometría , Peso al Nacer , Femenino , Homeostasis , Humanos , Recién Nacido , Masculino
17.
AJNR Am J Neuroradiol ; 44(5): 602-610, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-37024306

RESUMEN

BACKGROUND AND PURPOSE: An increased number of pathogenic variants have been described in mitochondrial encephalomyopathy lactic acidosis and strokelike episodes (MELAS). Different imaging presentations have emerged in parallel with a growing recognition of clinical and outcome variability, which pose a diagnostic challenge to neurologists and radiologists and may impact an individual patient's response to therapeutic interventions. By evaluating clinical, neuroimaging, laboratory, and genetic findings, we sought to improve our understanding of the sources of potential phenotype variability in patients with MELAS. MATERIALS AND METHODS: This retrospective single-center study included individuals who had confirmed mitochondrial DNA pathogenic variants and a diagnosis of MELAS and whose data were reviewed from January 2000 through November 2021. The approach included a review of clinical, neuroimaging, laboratory, and genetic data, followed by an unsupervised hierarchical cluster analysis looking for sources of phenotype variability in MELAS. Subsequently, experts identified "victory-variables" that best differentiated MELAS cohort clusters. RESULTS: Thirty-five patients with a diagnosis of mitochondrial DNA-based MELAS (median age, 12 years; interquartile range, 7-24 years; 24 female) were eligible for this study. Fifty-three discrete variables were evaluated by an unsupervised cluster analysis, which revealed that two distinct phenotypes exist among patients with MELAS. After experts reviewed the variables, they selected 8 victory-variables with the greatest impact in determining the MELAS subgroups: developmental delay, sensorineural hearing loss, vision loss in the first strokelike episode, Leigh syndrome overlap, age at the first strokelike episode, cortical lesion size, regional brain distribution of lesions, and genetic groups. Ultimately, 2-step differentiating criteria were defined to classify atypical MELAS. CONCLUSIONS: We identified 2 distinct patterns of MELAS: classic MELAS and atypical MELAS. Recognizing different patterns in MELAS presentations will enable clinical and research care teams to better understand the natural history and prognosis of MELAS and identify the best candidates for specific therapeutic interventions.


Asunto(s)
Acidosis Láctica , Síndrome MELAS , Accidente Cerebrovascular , Femenino , Humanos , Síndrome MELAS/diagnóstico , Síndrome MELAS/genética , Síndrome MELAS/patología , Estudios Retrospectivos , ADN Mitocondrial/genética , Fenotipo
18.
AJNR Am J Neuroradiol ; 44(10): 1201-1207, 2023 10.
Artículo en Inglés | MEDLINE | ID: mdl-37591769

RESUMEN

BACKGROUND AND PURPOSE: Although cardinal imaging features for the diagnostic criteria of the Dandy-Walker phenotype have been recently defined, there is a large range of unreported malformations among these patients. The brainstem, in particular, deserves careful attention because malformations in this region have potentially important implications for clinical outcomes. In this article, we offer detailed information on the association of brainstem dysgenesis in a large, multicentric cohort of patients with the Dandy-Walker phenotype, defining different subtypes of involvement and their potential clinical impact. MATERIALS AND METHODS: In this established multicenter cohort of 329 patients with the Dandy-Walker phenotype, we include and retrospectively review the MR imaging studies and clinical records of 73 subjects with additional brainstem malformations. Detailed evaluation of the different patterns of brainstem involvement and their potential clinical implications, along with comparisons between posterior fossa measurements for the diagnosis of the Dandy-Walker phenotype, was performed among the different subgroups of patients with brainstem involvement. RESULTS: There were 2 major forms of brainstem involvement in patients with Dandy-Walker phenotype including the following: 1) the mild form with anteroposterior disproportions of the brainstem structures "only" (57/73; 78%), most frequently with pontine hypoplasia (44/57; 77%), and 2) the severe form with patients with tegmental dysplasia with folding, bumps, and/or clefts (16/73; 22%). Patients with severe forms of brainstem malformation had significantly increased rates of massive ventriculomegaly, additional malformations involving the corpus callosum and gray matter, and interhemispheric cysts. Clinically, patients with the severe form had significantly increased rates of bulbar dysfunction, seizures, and mortality. CONCLUSIONS: Additional brainstem malformations in patients with the Dandy-Walker phenotype can be divided into 2 major subgroups: mild and severe. The severe form, though less prevalent, has characteristic imaging features, including tegmental folding, bumps, and clefts, and is directly associated with a more severe clinical presentation and increased mortality.


Asunto(s)
Síndrome de Dandy-Walker , Hidrocefalia , Malformaciones del Sistema Nervioso , Humanos , Síndrome de Dandy-Walker/diagnóstico por imagen , Estudios Retrospectivos , Tronco Encefálico/diagnóstico por imagen , Pronóstico
19.
Horm Metab Res ; 44(11): 845-50, 2012 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-22791601

RESUMEN

Late preterm infants may have impaired early growth. The role of circulating insulin-like growth factors (IGFs) in the regulation of postnatal growth of these infants is unclear. The aim of the study was to investigate prospectively the serum levels of IGFs during the first year of life in late preterm infants and their association with birth weight and early postnatal growth. The study was conducted on 112 infants, born appropriate for gestational age (GA) at GA 32-36 weeks. Serum levels of IGF-I and IGF-binding proteins (IGFBP) -1 and -3, and anthropometric measurements were recorded at the chronological age of 2 and 6 weeks, and 3, 6, 9, and 12 months. The mean levels of both IGF-I and IGFBP-3 were found to be lower at 2 and 6 weeks, 82±44, 100±31 ng/ml, and 1.7±0.8, 2.1±1 µg/ml, respectively, but then rose and remained stable between 3 and 12 months. The levels of IGFBP-1 were lower at the 3 first study points and increased gradually thereafter. Birth weight correlated positively with the level IGF-I at 2 and 6 weeks (R=0.35, 0.37; p<0.01), but negatively at 12 months (R= - 0.34; p<0.01), independent of other factors. At all study points up to 6 months, the level of IGF-I was higher in infants who showed more rapid growth in either body weight or crown heel length. In late preterm infants, the serum IGF-I level is closely related to early accelerated growth. Its diverse associations with birth weight may imply a regulatory effect on regression of growth towards the mean.


Asunto(s)
Recien Nacido Prematuro/crecimiento & desarrollo , Proteína 1 de Unión a Factor de Crecimiento Similar a la Insulina/sangre , Proteína 3 de Unión a Factor de Crecimiento Similar a la Insulina/sangre , Factor I del Crecimiento Similar a la Insulina/metabolismo , Peso al Nacer , Peso Corporal , Femenino , Edad Gestacional , Humanos , Recién Nacido , Recien Nacido Prematuro/sangre , Masculino , Estudios Prospectivos
20.
Horm Metab Res ; 44(2): 135-9, 2012 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-22314334

RESUMEN

Children born small (SGA) or large (LGA) for gestational age are prone to develop insulin resistance (IR) during childhood. Visfatin, a hormone with insulin-mimetic actions, has been associated with IR. This study was designed to examine whether serum level of visfatin is correlated with metabolic indices of IR, in prepuberty in association with the intrauterine growth pattern. The following parameters were evaluated at a mean age of 6.5±1.2 years in 155 prepubertal children born appropriate for the gestational age (AGA) (n=63), or SGA (n=42), or LGA (n=50): serum levels of visfatin, adiponectin, leptin, fasting glucose (G(F)) and insulin (I(F)), the homeostasis model assessment IR index (HOMA-IR), plasma lipids, anthropometric indices at birth and the time of evaluation, and obesity indices [waist circumference (WC), body mass index (BMI) and skinfold thickness]. The mean serum level of visfatin was lower in the SGA than in the AGA and the LGA children (9±5.2 vs. 11.8±5.1 and 12.7±5.6 ng/ml, respectively, p<0.01). Girls had lower visfatin levels than boys (10.4±4.3 ng/ml vs. 12.5±6.7 ng/ml, p<0.05). Visfatin was not correlated with IR indices. In multiple regression analysis visfatin level was positively correlated with birth weight z-score (t=2.56, beta=0.24, p<0.01) and crown to heel z-score (t=2.46, beta=0.22, p=0.014), independent of age, gender, maternal weight before pregnancy, maternal weight gain during pregnancy, BMI z-score, WC z-score, serum leptin and adiponectin, and HOMA-IR. In conclusion serum visfatin level was lower in prepubertal SGA children but not correlated with IR indices. Low birth weight was an independent predictor of visfatin level.


Asunto(s)
Recién Nacido Pequeño para la Edad Gestacional/sangre , Nicotinamida Fosforribosiltransferasa/sangre , Adiponectina/sangre , Antropometría , Glucemia/metabolismo , Niño , Preescolar , Femenino , Humanos , Recién Nacido , Insulina/sangre , Resistencia a la Insulina , Leptina/sangre , Masculino , Análisis Multivariante , Análisis de Regresión
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