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OBJECTIVES: This study aimed to analyse the clinical course of 45 children with severe alpha-1-antitrypsin deficiency (AATD) registered in our clinic to detect possible predictors of poor outcomes. METHODS: The clinical and biological data of 45 patients with homozygous or compound heterozygous AATD were analysed. The data were collected retrospectively going back to 2005 and prospectively from May 2020 until October 2021. It was based on questionnaires, laboratory values, sonography, and biopsy findings. Liver disease was classified into four grades depending on the grade of liver disease: mild or no liver disease, moderate disease, severe disease, and liver transplantation. RESULTS: Thirty-nine patients (86.7%) had a Pi*ZZ and five (11.1%) a Pi*SZ genotype. One patient showed a new, not-yet-described compound heterozygous genotype (Pi*Z + Asp95Asn). A total of 66.7% of the cohort showed mild or no liver disease, 20% moderate, and 13.3% severe. AATD was diagnosed in most cases because of liver abnormalities, such as the elevation of transaminases (42.2%). A total of 29.4% of the patients with neonatal icterus prolongatus developed severe liver disease, and 25.7% were born small for their gestational age (SGA). Diseases of the atopic type were reported in 47.4% of the cases. CONCLUSIONS: The presence of neonatal icterus prolongatus in the first weeks of life was significantly more likely in severe courses of liver disease (r = 0.371, p = 0.012). A tendency toward atopic comorbidity in AAT-deficient children needs to be further evaluated.
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Purpose Misplacement of ventricular catheters in shunt surgery occurs in 40% with freehand technique and represents therefore a risk for early shunt failure. The goal of this retrospective, single center study is to analyze the impact of real-time ultrasound guidance on ventricular catheter positioning and early outcome of shunt survival. Materials and Methods We analyzed the charts and images of all patients who underwent shunt surgery from 09/2017 to 12/2022 and compared the position of ventricular catheter by using the freehand technique and real-time ultrasound guidance. Central catheter position was graded as grade I (optimal), II (contact with ventricle structures or contralateral) and III (misplacement). Results Ventricular catheter was placed in 244 patients using real-time US-guidance and in 506 patients using freehand technique. The mean age (53.4 and 53.6 years respectively) and the preoperative frontal occipital horn ratio (FOHR; 0.47 versus 0.44) were almost equal in both groups. In the study group, grade I catheter position was achieved in 64%, grade II in 34% and grade III in 2%. The control group showed grade I position in 45%, grade II in 32% and grade III in 23% of cases (p<0.05). Early central catheter failure rate was the highest in grade III (40.5%) compared to 4% in grade I. Conclusion Our data demonstrate that real-time US-guidance lead to a significant improvement of ventricular catheter placement. In consequence early shunt revisions decrease significantly. Further prospective, randomized, and controlled studies comparing standard method to a real-time ultrasound catheter placement are required.
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INTRODUCTION: Decompressive craniectomy (DC) is rarely required in infants. These youngest patients are vulnerable to blood loss, and cranial reconstruction can be challenging due to skull growth and bone flap resorption. On the other hand, infants have thin and flexible bone and osteogenic potential. MATERIAL AND METHODS: We propose a new technique called DCST, which makes use of these unique aspects by achieving decompression using the circumstance of the thin and flexible bone. We describe the surgical technique and the follow-up course over a period of 13 months. RESULTS AND CONCLUSION: In our study, DCST achieved adequate decompression and no further repeated surgeries in accordance with decompressive craniectomy were needed afterwards.
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Lesões Encefálicas Traumáticas , Craniectomia Descompressiva , Humanos , Lactente , Craniectomia Descompressiva/métodos , Craniectomia Descompressiva/efeitos adversos , Masculino , Feminino , Lesões Encefálicas Traumáticas/cirurgia , Complicações Pós-Operatórias/prevenção & controle , Complicações Pós-Operatórias/etiologia , Resultado do TratamentoRESUMO
BACKGROUND: Skeletal dysplasias collectively affect a large number of patients worldwide. Most of these disorders cause growth anomalies. Hence, evaluating skeletal maturity via the determination of bone age (BA) is a useful tool. Moreover, consecutive BA measurements are crucial for monitoring the growth of patients with such disorders, especially for timing hormonal treatment or orthopedic interventions. However, manual BA assessment is time-consuming and suffers from high intra- and inter-rater variability. This is further exacerbated by genetic disorders causing severe skeletal malformations. While numerous approaches to automate BA assessment have been proposed, few are validated for BA assessment on children with skeletal dysplasias. OBJECTIVE: We present Deeplasia, an open-source prior-free deep-learning approach designed for BA assessment specifically validated on patients with skeletal dysplasias. MATERIALS AND METHODS: We trained multiple convolutional neural network models under various conditions and selected three to build a precise model ensemble. We utilized the public BA dataset from the Radiological Society of North America (RSNA) consisting of training, validation, and test subsets containing 12,611, 1,425, and 200 hand and wrist radiographs, respectively. For testing the performance of our model ensemble on dysplastic hands, we retrospectively collected 568 radiographs from 189 patients with molecularly confirmed diagnoses of seven different genetic bone disorders including achondroplasia and hypochondroplasia. A subset of the dysplastic cohort (149 images) was used to estimate the test-retest precision of our model ensemble on longitudinal data. RESULTS: The mean absolute difference of Deeplasia for the RSNA test set (based on the average of six different reference ratings) and dysplastic set (based on the average of two different reference ratings) were 3.87 and 5.84 months, respectively. The test-retest precision of Deeplasia on longitudinal data (2.74 months) is estimated to be similar to a human expert. CONCLUSION: We demonstrated that Deeplasia is competent in assessing the age and monitoring the development of both normal and dysplastic bones.
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Acondroplasia , Aprendizado Profundo , Osteocondrodisplasias , Criança , Humanos , Estudos Retrospectivos , Radiografia , Determinação da Idade pelo Esqueleto/métodosRESUMO
Introduction: There is a paucity of clinical data on pediatric epigastric hernias despite them accounting for up to 6% of all hernia repairs in children. We aimed to provide additional data to supplement those 117 cases of a recent systematic review and to further clarify the role of ultrasound in diagnosing pediatric epigastric hernia. Methods: We retrospectively included all 60 patients treated for epigastric hernias in children in two tertiary pediatric surgical departments within 12 years. Associations were tested via point-biserial correlation analyses. Results: Epigastric hernias primarily affected preschool children with a median age of 39 months. The vast majority of patients (88%) presented with swelling that was occasionally (30%) accompanied by pain. Fascial defects could be found during clinical examination in 45% of patients with a median size of 5 mm (95% CI 3 to 10). Smaller defects were less likely to be palpable (r=-0.44, 95% CI -0.08 to -0.7, p=0.021). Likewise, ultrasound was used more frequently with smaller fascial defect sizes (r=-0.51, 95% CI -0.16 to -0.74, p=0.007). Laparoscopic repair was used in 11 patients (19%) and more often (4/11) in combination with another simultaneous procedure than open repair (11/48). Conclusions: Epigastric hernias are primarily a condition of the preschool child. Ultrasound can be beneficial if the diagnosis cannot be made clinically; otherwise, it is abdicable if it does not change the management of the patient's epigastric hernia. Laparoscopic repairs might be beneficial for children with multiple defects or simultaneous procedures.
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BACKGROUND: With declining kidney function and therefore increasing plasma oxalate, patients with primary hyperoxaluria type I (PHI) are at risk to systemically deposit calcium-oxalate crystals. This systemic oxalosis may occur even at early stages of chronic kidney failure (CKD) but is difficult to detect with non-invasive imaging procedures. METHODS: We tested if magnetic resonance imaging (MRI) is sensitive to detect oxalate deposition in bone. A 3 Tesla MRI of the left knee/tibial metaphysis was performed in 46 patients with PHI and in 12 healthy controls. In addition to the investigator's interpretation, signal intensities (SI) within a region of interest (ROI, transverse images below the level of the physis in the proximal tibial metaphysis) were measured pixelwise, and statistical parameters of their distribution were calculated. In addition, 52 parameters of texture analysis were evaluated. Plasma oxalate and CKD status were correlated to MRI findings. MRI was then implemented in routine practice. RESULTS: Independent interpretation by investigators was consistent in most cases and clearly differentiated patients from controls. Statistically significant differences were seen between patients and controls (p < 0.05). No correlation/relation between the MRI parameters and CKD stages or Pox levels was found. However, MR imaging of oxalate osteopathy revealed changes attributed to clinical status which differed clearly to that in secondary hyperparathyroidism. CONCLUSIONS: MRI is able to visually detect (early) oxalate osteopathy in PHI. It can be used for its monitoring and is distinguished from renal osteodystrophy. In the future, machine learning algorithms may aid in the objective assessment of oxalate deposition in bone. Graphical Abstract A higher resolution version of the Graphical abstract is available as Supplementary information.
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Hiperoxalúria Primária , Hiperoxalúria , Falência Renal Crônica , Humanos , Oxalatos , Hiperoxalúria Primária/diagnóstico , Hiperoxalúria Primária/diagnóstico por imagem , Hiperoxalúria/complicações , Oxalato de CálcioRESUMO
BACKGROUND: PTEN Hamartoma Tumor Syndrome (PHTS) is caused by germline autosomal-dominant mutations of the tumor suppressor gene PTEN. Subjects harbour an increased risk for tumor development, with thyroid carcinoma occurring in young children. Establishing a diagnosis is challenging, since not all children fulfill diagnostic criteria established for adults. Macrocephaly is a common feature in childhood, with cerebral MRI being part of its diagnostic workup. We asked whether distinct cMRI features might facilitate an earlier diagnosis. METHODS: We retrospectively studied radiological and clinical data of pediatric patients who were presented in our hospital between 2013 and 2019 in whom PTEN gene mutations were identified. RESULTS: We included 27 pediatric patients (18 male) in the analysis. All patients were macrocephalic. Of these, 19 patients had received at least one cMRI scan. In 18 subjects variations were detected: enlarged perivascular spaces (EPVS; in 18), white matter abnormalities (in seven) and less frequently additional pathologies. Intellectual ability was variable. Most patients exhibited developmental delay in motor skills, but normal intelligence. CONCLUSION: cMRI elucidates EPVS and white matter abnormalities in a high prevalence in children with PHTS and might therefore aid as a diagnostic feature to establish an earlier diagnosis of PHTS in childhood.
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Síndrome do Hamartoma Múltiplo/diagnóstico por imagem , Síndrome do Hamartoma Múltiplo/diagnóstico , Imageamento por Ressonância Magnética/métodos , Adolescente , Criança , Pré-Escolar , Feminino , Sistema Glinfático/diagnóstico por imagem , Humanos , Lactente , Leucoencefalopatias/diagnóstico por imagem , Masculino , Estudos RetrospectivosRESUMO
BACKGROUND: Long-term outcomes of children with nephrotic syndrome have not been well described in the literature. METHODS: Cross-sectional study data analysis of n = 43 patients with steroid-sensitive (SSNS) and n = 7 patients with steroid-resistant (SRNS) nephrotic syndrome were retrospectively collected; patients were clinically examined at a follow-up visit (FUV), on average 30 years after onset, there was the longest follow-up period to date. RESULTS: The mean age at FUV was 33.6 years (14.4-50.8 years, n = 41). The mean age of patients with SSNS at onset was 4.7 years (median 3.8 years (1.2-14.5 years), the mean number of relapses was 5.8 (0 to 29 relapses). Seven patients (16.3%) had no relapses. Eleven patients were "frequent relapsers" (25.6%) and four patients still had relapses beyond the age of 18 years. Except of cataracts and arterial hypertension, there were no negative long-term outcomes and only one patient was using immunosuppressant therapy at FUV. 55% of patients suffered from allergies and 47.5% had hypercholesterolemia. Two patients suffered a heart attack in adulthood. A younger age at onset (< 4 years) was a risk factor for frequent relapses. An early relapse (within 6 months after onset) was a risk factor and a low birth weight was not a significant risk factor for a complicated NS course. The mean age of patients with SRNS at onset was 4.6 ± 4.4 years and 27.5 ± 9.9 years at FUV. Three patients received kidney transplantations. CONCLUSIONS: The positive long-term prognosis of SSNS can reduce the concern of parents about the probability of the child developing a chronic renal disease during the clinical course after onset.
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Síndrome Nefrótica/epidemiologia , Adolescente , Adulto , Osso e Ossos/metabolismo , Criança , Pré-Escolar , Comorbidade , Estudos Transversais , Feminino , Fertilidade , Alemanha/epidemiologia , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Síndrome Nefrótica/complicações , Síndrome Nefrótica/metabolismo , Gravidez , Recidiva , Estudos Retrospectivos , Adulto JovemRESUMO
BACKGROUND: Nephrotic syndrome (NS) is one of the most frequent occurring chronic kidney diseases in childhood, despite its rarely occurrence in the general population. Detailed information about clinical data of NS (e.g. average length of stay, complications) as well as of secondary nephrotic syndrome (SNS) is not well known. METHODS: A nationwide ESPED follow-up study presenting the clinical course and management of children with NS in Germany. RESULTS: In course of 2 years, 347 children developed the first onset of NS, hereof 326 patients (93.9%) had a primary NS, and 19 patients had a SNS (missing data in 2 cases), the majority due to a Henoch-Schönlein Purpura. Patients with steroid-resistant NS (SRNS) stayed significantly longer in hospital than children with steroid-sensitive NS (25.2 vs. 13.3 d, p < 0.001). Patients with bacterial/viral infections stayed longer in hospital (24.9 d/19.5d) than children without an infection (14.2 d/14.9 d; p < 0.001; p = 0.016). Additionally, children with urinary tract infections (UTI) (p < 0,001), arterial hypertension (AH) (p < 0.001) and acute renal failure (ARF) (p < 0,001) stayed significantly longer in hospital. Patients with SRNS had frequent complications (p = 0.004), such as bacterial infections (p = 0.013), AH (p < 0.001), UTI (p < 0.001) and ARF (p = 0.007). Children with a focal segmental glomerulosclerosis (FSGS) had significantly more complications (p = 0.04); specifically bacterial infections (p = 0.01), UTI (p = 0.003) and AH (p < 0,001). Steroid-resistance was more common in patients with UTI (p < 0.001) and in patients with ARF (p = 0.007). Furthermore, steroid-resistance (p < 0.001) and FSGS (p < 0.001) were more common in patients with AH. CONCLUSIONS: This nationwide, largest German study presents results on the clinical course of children with NS considering a diverse range of complications that can occur with NS. The establishment of a region-wide and international pediatric NS register would be useful to conduct further diagnostic and therapy studies with the aim to reduce the complication rate and to improve the prognosis of NS, and to compare the data with international cohorts.
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Síndrome Nefrótica/terapia , Adolescente , Corticosteroides/uso terapêutico , Fatores Etários , Criança , Criança Hospitalizada/estatística & dados numéricos , Pré-Escolar , Comorbidade , Resistência a Medicamentos , Feminino , Seguimentos , Alemanha/epidemiologia , Glomerulosclerose Segmentar e Focal/epidemiologia , Glomerulosclerose Segmentar e Focal/terapia , Inquéritos Epidemiológicos , Humanos , Hipertensão/epidemiologia , Lactente , Recém-Nascido , Infecções/epidemiologia , Tempo de Internação/estatística & dados numéricos , Masculino , Síndrome Nefrótica/epidemiologia , Turquia/etnologiaRESUMO
BACKGROUND: The incidence of childhood nephrotic syndrome (NS) in Germany is not well known. METHODS: An ESPED-based nationwide collection of epidemiological data of children in 2005 and 2006. RESULT: The mean age of NS at onset was 5.5 ± 3.7 years. The gender ratio of boys to girls was 1.8:1. The average length of stay was 15.5 ± 11.2 days, with younger children remaining significantly longer in hospital. Steroid-resistance was more common in children ≥8 years (p = 0.023). Focal-segmental glomerulosclerosis (FSGS) was more common in children >10 years (p = 0.029). The ratio of males to females with FSGS was 1:1.9, thus the FSGS risk for girls at onset was 3.3-times greater. Considering the available data, the incidence of NS in Germany is 1.2/100,000 in the population <18 years, of which 1.0/100,000 are steroid-sensitive. CONCLUSION: Compared with international data, which primarily focused on regional and small populations, this is the largest study about the incidence of the childhood NS.
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Síndrome Nefrótica/epidemiologia , Adolescente , Fatores Etários , Idade de Início , Criança , Pré-Escolar , Resistência a Medicamentos , Etnicidade , Feminino , Alemanha/epidemiologia , Glomerulosclerose Segmentar e Focal/epidemiologia , Glomerulosclerose Segmentar e Focal/etiologia , Humanos , Incidência , Lactente , Tempo de Internação , Masculino , Síndrome Nefrótica/tratamento farmacológico , Risco , Fatores Sexuais , Esteroides/uso terapêuticoRESUMO
Patients with PTEN hamartoma tumor syndrome (PHTS) are at increased risk of developing benign and malignant tumors, including thyroid carcinoma. Benign thyroid lesions and single cases of thyroid carcinoma have been reported in children with PHTS. We conducted a retrospective, single-centered study including children and adolescents with a molecularly proven diagnosis of PTEN. Our cohort consists of 16 patients, with a mean age at diagnosis PHTS of 5.7 years. Twelve of 16 cases exhibited thyroid abnormalities (75%). In seven patients, thyroid abnormalities were already present at first ultrasound screening, in five cases they occurred during follow-up. Eight patients underwent thyroidectomy. Histopathology included nodular goiter, follicular adenoma, papillary microcarcinoma in a boy of six and follicular carcinoma in a girl of 13 years. Two patients had autoimmune thyroid disease. CONCLUSION: Thyroid disease is common in children with PHTS. Physicians caring for patients with early thyroid abnormalities and additional syndromal features should be aware of PHTS as a potentially underlying disorder. Ultrasound screening should be performed immediately after diagnosis of PHTS and repeated yearly or more frequently. Because of possible early cancer development, we recommend early surgical intervention in the form of total thyroidectomy in cases of suspicious ultrasound findings. What is Known: ⢠PHTS patients are at high risk of developing benign and malignant tumors. ⢠Individual cases of thyroid carcinoma in children have been reported. What is New: ⢠Thyroid disease is even more common in children with PHTS (75%) than previously expected. ⢠Frequently thyroid disease is the first organ pathology requiring diagnostic workup and therefore children with PHTS should be examined for thyroid disease right after diagnosis and receive follow-up on a regular basis throughout life.
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Síndrome do Hamartoma Múltiplo/complicações , Doenças da Glândula Tireoide/etiologia , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Masculino , Estudos Retrospectivos , Doenças da Glândula Tireoide/diagnóstico , Doenças da Glândula Tireoide/epidemiologia , Doenças da Glândula Tireoide/terapia , Resultado do TratamentoRESUMO
To evaluate body composition, metabolism and growth as well as their interaction with early nutrition in former extremely low birth weight infants (ELBW), we assessed qualitative and quantitative nutritional intake during initial hospitalization and infantile growth parameters in 61 former ELBW infants with a birth weight <1000 g. In two follow-up exams, physical and biochemical development were measured at 5.7 and at 9.5 years. At the second follow-up, in addition to biochemical reassessment, body composition was analyzed by dual-energy x-ray absorptiometry (DEXA). Protein intake between birth and discharge was associated with weight gain in the first six months of life (r = 0.51; p < 0.01). Weight catch-up preceded height catch-up. Protein intake in early infancy correlated highly significantly with abdominal fat mass (r = 0.49; p < 0.05), but not with lean body mass at 9.5 years (r = 0.30; not significant (n.s.). In contrast to nutrient intake, birth weight was associated with lean body mass (r = 0.433; p < 0.001). Early protein and carbohydrate intake were associated with high-density lipoprotein (HDL)-cholesterol, and early catch-up growth correlated with fasting insulin at follow-up. Stepwise linear regression demonstrated that protein intake predicted fat mass (p < 0.05), whereas only gender and birth weight standard deviation score (SDS) contributed significantly to lean body mass variation (p < 0.05). Our results suggest an important impact of early nutrient intake on body composition and metabolism in later childhood in ELBW children.
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Composição Corporal , Fenômenos Fisiológicos da Nutrição do Lactente , Recém-Nascido de muito Baixo Peso/crescimento & desenvolvimento , Absorciometria de Fóton , Índice de Massa Corporal , Criança , Pré-Escolar , HDL-Colesterol/sangue , LDL-Colesterol/sangue , Dieta , Carboidratos da Dieta/administração & dosagem , Gorduras na Dieta/administração & dosagem , Proteínas Alimentares/administração & dosagem , Feminino , Seguimentos , Humanos , Lactente , Insulina/sangue , Modelos Lineares , Estudos Longitudinais , Masculino , Avaliação Nutricional , Estudos Retrospectivos , Aumento de PesoRESUMO
BACKGROUND: Functional magnetic resonance imaging (fMRI) in neonates has been introduced as a non-invasive method for studying sensorimotor processing in the developing brain. However, previous neonatal studies have delivered conflicting results regarding localization, lateralization, and directionality of blood oxygenation level dependent (BOLD) responses in sensorimotor cortex (SMC). Amongst the confounding factors in interpreting neonatal fMRI studies include the use of standard adult MR-coils providing insufficient signal to noise, and liberal statistical thresholds, compromising clinical interpretation at the single subject level. PATIENTS / METHODS: Here, we employed a custom-designed neonatal MR-coil adapted and optimized to the head size of a newborn in order to improve robustness, reliability and validity of neonatal sensorimotor fMRI. Thirteen preterm infants with a median gestational age of 26 weeks were scanned at term-corrected age using a prototype 8-channel neonatal head coil at 3T (Achieva, Philips, Best, NL). Sensorimotor stimulation was elicited by passive extension/flexion of the elbow at 1 Hz in a block design. Analysis of temporal signal to noise ratio (tSNR) was performed on the whole brain and the SMC, and was compared to data acquired with an 'adult' 8 channel head coil published previously. Task-evoked activation was determined by single-subject SPM8 analyses, thresholded at p < 0.05, whole-brain FWE-corrected. RESULTS: Using a custom-designed neonatal MR-coil, we found significant positive BOLD responses in contralateral SMC after unilateral passive sensorimotor stimulation in all neonates (analyses restricted to artifact-free data sets = 8/13). Improved imaging characteristics of the neonatal MR-coil were evidenced by additional phantom and in vivo tSNR measurements: phantom studies revealed a 240% global increase in tSNR; in vivo studies revealed a 73% global and a 55% local (SMC) increase in tSNR, as compared to the 'adult' MR-coil. CONCLUSIONS: Our findings strengthen the importance of using optimized coil settings for neonatal fMRI, yielding robust and reproducible SMC activation at the single subject level. We conclude that functional lateralization of SMC activation, as found in children and adults, is already present in the newborn period.
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Potencial Evocado Motor/fisiologia , Lateralidade Funcional/fisiologia , Recém-Nascido Prematuro , Córtex Sensório-Motor/fisiologia , Encéfalo/crescimento & desenvolvimento , Encéfalo/fisiologia , Mapeamento Encefálico/instrumentação , Mapeamento Encefálico/métodos , Feminino , Idade Gestacional , Cabeça/crescimento & desenvolvimento , Cabeça/fisiologia , Humanos , Recém-Nascido , Recém-Nascido Prematuro/fisiologia , Recém-Nascido Prematuro/psicologia , Imageamento por Ressonância Magnética , Masculino , Triagem Neonatal/instrumentação , Triagem Neonatal/métodosRESUMO
Generalized lymphangiectasia is a rare congenital disorder characterized by dilated lymphatic vessels with a fatal prognosis, especially in cases with thoracic involvement. We describe the use of propranolol in the therapy of generalized lymphangiectasia in a preterm infant with hydrops fetalis. Propranolol was well tolerated and effective within the first months. It remains to be shown whether propranolol is a treatment option for infants with generalized lymphangiectasia.
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Doenças do Prematuro/tratamento farmacológico , Linfangiectasia/congênito , Linfangiectasia/tratamento farmacológico , Propranolol/uso terapêutico , Feminino , Humanos , Recém-Nascido , Recém-Nascido PrematuroRESUMO
Magnetic resonance of the body offers different techniques for mapping fat deposits (MR Imaging) and analysis of organs with small amounts of lipids (MR Spectroscopy). Possible approaches for whole-body assessment of adipose tissue are presented and discussed and spectroscopic examinations in different organs are depicted. With magnetic resonance imaging (MRI) it has been shown that obesity per se is not a marker for metabolic failure, but depends on regional variations of body composition and ectopic lipid accumulation. In addition MRI of the brain is a powerful research tool to understand the brain's role in the development and maintenance of obesity and the overconsumption of foods in obese individuals. Sonography has a low accuracy in estimating hepatic steatosis until now. New sonographic methods have been evaluated to detect hepatic steatosis by physical properties of fatty tissue as tissue stiffness, sound absorption or sound speed. Nuclear medicine and in particular Positron Emission Tomography (PET) methods are used to explore central pathophysiology, brown adipose tissue activity and alterations in homeostatic feedback and gut-brain communication.
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Diagnóstico por Imagem/métodos , Obesidade/diagnóstico , Pesos e Medidas Corporais/métodos , Humanos , Imageamento por Ressonância Magnética/métodos , Medicina Nuclear/métodos , Obesidade/complicações , Tomografia por Emissão de Pósitrons/métodos , Tomografia Computadorizada por Raios X/métodos , Ultrassonografia/métodosRESUMO
Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare autosomal dominant skeletal dysplasia usually presenting in early childhood with variable phenotypic features and course. Clinical manifestations comprise aggressive osteolysis of the carpal and tarsal bones in particular, an often progressive nephropathy leading to end-stage renal disease, craniofacial anomalies and mental impairment. Recently, heterozygous missense mutations in the V-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) (MAFB) gene have been causally related to MCTO patients in 13 unrelated families investigated. Contrary to these findings suggesting complete penetrance, in the present study, we identified a novel missense MAFB variant present not only in the patient, but also in his unaffected mother, sister and maternal grandmother. This observation demonstrates an incomplete penetrance for some MAFB mutations, thereby suggesting that modifier genes, epigenetic mechanisms or environmental factors may modulate the MCTO phenotype. This should be considered in diagnosis and genetic counseling.
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Variação Genética , Fator de Transcrição MafB/genética , Osteólise/genética , Penetrância , Adolescente , Sequência de Aminoácidos , Sequência de Bases , Ossos da Mão/diagnóstico por imagem , Humanos , Masculino , Dados de Sequência Molecular , Mutação de Sentido Incorreto , Osteólise/diagnóstico , Linhagem , Radiografia , Alinhamento de SequênciaRESUMO
The development of an acardiac twin in a monochorionic multiple pregnancy is a rare and severe complication of abnormal placental vascular anastomoses. These malformed fetuses present with a very bizarre morphology and a plethora of different malformations. However, all acardiac twins show either a complete absence or an anlage of the heart. Cerebral development is usually poor. We report, according to our review of the literature, for the first time, a very unusual case of acardius with features of acardius amorphus and acormus (fused head and malformed axial skeleton without macroscopically detectable internal organs) with lobar holoprosencephaly and intracerebral pigmented retina-like tissue.