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1.
Neurobiol Stress ; 27: 100576, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37810429

RESUMO

Background: Childhood maltreatment profoundly alters trajectories of brain development, promoting markedly increased long-term health risks and impaired intellectual development. However, the immediate impact of maltreatment on brain development in children and the extent to which altered global brain volume contributes to intellectual development in children with maltreatment experience is currently unknown. We here utilized MRI data obtained from children within 6 months after the exposure to maltreatment to assess the association of maltreatment severity with global brain volume changes. We further assessed the association between maltreatment severity and intellectual development and tested for the mediating effect of brain volume on this association. Method: We used structural MRI (3T) in a sample of 49 children aged 3-5 years with maltreatment exposure, i.e. emotional and physical abuse and/or neglect within 6 months, to characterize intracranial and tissue-specific volumes. Maltreatment severity was coded using the Maternal Interview for the Classification of Maltreatment. IQ was tested at study entry and after one year using the Snijders Oomen Nonverbal Test. Results: Higher maltreatment severity was significantly correlated with smaller intracranial volume (r = -.393, p = .008), which was mainly driven by lower total brain volume (r = -.393, p = .008), which in turn was primarily due to smaller gray matter volume (r = -.454, p = .002). Furthermore, smaller gray matter volume was associated with lower IQ at study entry (r = -.548, p < .001) and predicted IQ one year later (r = -.493, p = .004.). The observed associations were independent of potential confounding variables, including height, socioeconomic status, age and sex. Importance: We provide evidence that greater maltreatment severity in early childhood is related to smaller brain size at a very young age with significant consequences for intellectual ability, likely setting a path for far-reaching long-term disadvantages. Insights into the molecular and neural processes that underlie the impact of maltreatment on brain structure and function are urgently needed to derive mechanism-driven targets for early intervention.

2.
Pediatr Neonatol ; 63(3): 255-261, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35190272

RESUMO

BACKGROUND: Brain structures in the infant brain are investigated reliably using cranial magnetic resonance imaging. However, the lack of quantitative standard values for various brain regions results in data interpretation that is often subjective or based on small patient cohorts. The aim of this study was to create simple linear measurements to assess brain structures in infancy. METHODS: We assessed cranial magnetic resonance imaging sessions of 131 children without intracerebral pathology retrospectively for size of various brain structures throughout the first year of life. RESULTS: Standard values for the size and the growth rate of 14 brain structures including lateral ventricles, frontal subarachnoid space, pons, medulla oblongata, cerebellar vermis, pituitary gland, optical nerve, corpus callosum and the tegmentovermian angle were defined. CONCLUSION: Our study offers reference values for the biometric assessment of the infant brain. Especially in children with multiple brain malformations, it is essential to know the normal absolute and relative size of brain structures.


Assuntos
Encéfalo , Imageamento por Ressonância Magnética , Biometria , Encéfalo/diagnóstico por imagem , Criança , Humanos , Lactente , Imageamento por Ressonância Magnética/métodos , Neuroimagem , Valores de Referência , Estudos Retrospectivos
3.
Dev Med Child Neurol ; 63(3): 295-302, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33140418

RESUMO

AIM: To systematically characterize radiological features of patients with spina bifida, their relationship to cognitive function, and differences between spina bifida aperta (SBA) and spina bifida occulta (SBO). METHOD: In a retrospective study of 265 patients (117 females, 148 males; median age at imaging 11y, range 1-47y; SBA n=206, SBO n=59), the radiological phenotype was assessed through magnetic resonance imaging (MRI) (SBA n=171, SBO n=59). In 126 patients (SBA n=116, SBO n=10) Kaufman Assessment Battery for Children (KABC) or Wechsler Intelligence Scale for Children, Fourth Edition (WISC-IV) and Wechsler Adult Intelligence Scale, Fourth Edition (WAIS-IV) were performed. RESULTS: Patients with spina bifida show numerous brain malformations, always present for SBA but rarely for SBO. The most frequent brain malformations in SBA included abnormal corpus callosum (69%), hypoplastic pons (50%), and hypoplastic mesencephalon (20%). Cognitive total IQ scores were below average in 44% (KABC) to 49% (WISC-IV) of children with SBA, while almost all children with SBO scored at least average. Stenogyria (p=0.006), pons (p=0.003), and mesencephalon hypoplasia (p=0.01) correlated with lower total IQ score and verbal comprehension. Various brain malformations correlate significantly with several cognitive domains, while lesion level only correlates with processing speed. INTERPRETATION: IQ scores were significantly lower in patients with SBA than in patients with SBO. Verbal competence, perceptual reasoning, and working memory were significantly impaired for SBA and correlated with stenogyria and abnormalities of the midbrain and corpus callosum. WHAT THIS PAPER ADDS: Brain malformations occur more frequently in spina bifida aperta (SBA) than in spina bifida occulta (SBO). Cognitive impairment is less frequent in SBO. Hydrocephalus, stenogyria, midbrain, and corpus callosum abnormalities are associated with lower cognitive function. Difference in prognosis in SBO versus SBA can alter prenatal counselling.


Assuntos
Encéfalo/diagnóstico por imagem , Cognição/fisiologia , Disrafismo Espinal/diagnóstico por imagem , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Estudos Retrospectivos , Disrafismo Espinal/psicologia , Escalas de Wechsler , Adulto Jovem
4.
Eur J Pediatr ; 179(5): 773-779, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31907637

RESUMO

Pathological fractures (PFs) are common in patients with spina bifida. However, most previous studies refer to the overall fracture rate and largely neglecting putative age-dependent aspects. The aim of this retrospective study was to characterize patterns of fracture occurrence in childhood. In a retrospective study, we identified PF, all in the lower limbs, in 13% of 210 patients with spina bifida aperta. We further identified a bimodal frequency distribution of pathological fractures, with peaks at 1-5 and 10-12 years. We could thereby distinguish two groups of patients: (i) Children with a first fracture before an age of 6 years developed frequently multiple fractures within the following years, but fracture series typically stopped by 6 years-of-age. (ii) Children with a first fracture after the age of 6 years had fewer fractures, but these occurred also in adolescence. PF occurred rarely after the age of 13 years. The age at fracture correlated with the fracture site with 85% of the fractures occurring in the femur in the first five years of life and an increased frequency of tibia and foot fractures later in life. While, overall high lesion levels and preceding immobilizing events were risk factors for PF, femur fractures in children under 6 years-of-age occurred independent of their lesion level, and the age at verticalization did not correlate with PF rates.Conclusion: Based on these findings, standardized and effective preventive physiotherapeutic and/or pharmacological interventions to tackle PF in spina bifida need to consider age-specific differences in occurrence and reoccurrence of fractures.What is Known:• Pathological fractures are common in patients with spina bifida aperta, and associated risk factors include high lesion level, immobilization and low bone density.What is New:• We first report a bimodal frequency distribution of pathological fractures in childhood (first peak 1-5 years, second peak 10-12 years) and link early-onset fracture occurrence with the risk of multiple fractures arise in a short time period but a the chance of self-limitation of fracture series within a few years.• We show that femur fractures in children under 6 years-of-age occurred independent of their lesion level, and the age at verticalization did not correlate with PF rates.• We further link the age-dependent occurrence pattern with the risk of further fractures and with the chance of self-limitation of fracture series. The earlier a first fracture occurs, the more probable multiple fractures arise in a short time period. Nevertheless, early fracture series are often self-limiting within a few years.• Femur fractures in children under 6 years-of-age occurred independent of their lesion level, and the age at verticalization did not correlate with PF rates.• Based on these findings, physiotherapeutic and/or pharmaceutical concepts need to be developed in an age-adapted manner and in consideration of the potential self-limiting nature of fracture series.


Assuntos
Fraturas Espontâneas/epidemiologia , Disrafismo Espinal/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Criança , Pré-Escolar , Estudos Transversais , Feminino , Fraturas Espontâneas/etiologia , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Limitação da Mobilidade , Recidiva , Estudos Retrospectivos , Fatores de Risco , Adulto Jovem
5.
Ther Adv Med Oncol ; 11: 1758835919878013, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31666812

RESUMO

Langerhans cell histiocytosis (LCH) is a diagnostic and therapeutic challenge. We report on a rare case of its primary oral manifestation that was treated successfully with the BRAF-specific agent, vemurafenib, after insufficient standard LCH treatment. This case underlines the importance of proper diagnosis and the evaluation of targeted therapy as a valuable tool in LCH treatment. Furthermore, the close collaboration of surgeons, oncologists, and dentists is mandatory to ensure adequate treatment, restore the stomatognathic system in debilitating post-treatment situations, improve quality of life, and ensure effective disease control in infants and young patients.

6.
PLoS One ; 14(3): e0211552, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30845163

RESUMO

BACKGROUND: Magnetic resonance imaging (MRI) of the brain in children and adolescents is a well-established method in both clinical practice and in neuroscientific research. This practice is sometimes viewed critically, as MRI scans might expose minors (e.g. through scan-associated fears) to more than the legally permissible "minimal burden". While there is evidence that a significant portion of adults undergoing brain MRI scans experience anxiety, data on anxiety in children and adolescents undergoing brain MRI scans is rare. This study therefore aimed to examine the prevalence and level of anxiety in children and adolescents who had MRI scans of the brain, and to compare the results to adults undergoing brain MRI scans, and to children and adolescents undergoing electroencephalography (EEG; which is usually regarded a "minimal burden"). METHOD: Participants were 57 children and adolescents who had a brain MRI scan (MRI-C; mean age 12.9 years), 28 adults who had a brain MRI scan (MRI-A; mean age 43.7 years), and 66 children and adolescents undergoing EEG (EEG-C; mean age 12.9 years). Anxiety was assessed on the subjective (situational anxiety) and on the physiological level (arousal), before and after the respective examination. RESULTS: More than 98% of children and adolescents reported no or only minimal fear during the MRI scan. Both pre- and post-examination, the MRI-C and the MRI-A groups did not differ significantly with respect to situational anxiety (p = 0.262 and p = 0.374, respectively), and to physiological arousal (p = 0.050, p = 0.472). Between the MRI-C and the EEG-C group, there were also no significant differences in terms of situational anxiety (p = 0.525, p = 0.875), or physiological arousal (p = 0.535, p = 0.189). Prior MRI experience did not significantly influence subjective or physiological anxiety parameters. CONCLUSIONS: In this study, children and adolescents undergoing a brain MRI scan did not experience significantly more anxiety than those undergoing an EEG, or adults undergoing MRI scanning. Therefore, a general exclusion of minors from MRI research studies does not appear reasonable.


Assuntos
Ansiedade/etiologia , Encéfalo/diagnóstico por imagem , Eletroencefalografia/psicologia , Imageamento por Ressonância Magnética/psicologia , Adolescente , Adulto , Fatores Etários , Nível de Alerta , Encéfalo/fisiologia , Encéfalo/fisiopatologia , Criança , Medo , Feminino , Humanos , Masculino
7.
J Neurointerv Surg ; 10(3): e2, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29326377

RESUMO

An infant presented with right upper eyelid ptosis and was subsequently diagnosed with acquired Horner syndrome. Further evaluation revealed a right-sided cervicothoracic lymphatic malformation. At 13 weeks of age, the child underwent percutaneous intracystic sclerotherapy with a mixture of sodium tetradecyl sulphate and ethanol. Twenty-one weeks after initial treatment, ophthalmic examination showed complete resolution of the blepharoptosis and pupillary miosis. Percutaneous sclerotherapy not only effectively treated the space-occupying lymphatic malformation but also reversed the Horner syndrome that was presumably induced by neural tension (more likely) or compression.


Assuntos
Síndrome de Horner/diagnóstico por imagem , Síndrome de Horner/terapia , Anormalidades Linfáticas/diagnóstico por imagem , Anormalidades Linfáticas/terapia , Escleroterapia/métodos , Blefaroptose/diagnóstico por imagem , Blefaroptose/terapia , Etanol/administração & dosagem , Humanos , Lactente , Recém-Nascido , Tetradecilsulfato de Sódio/administração & dosagem
8.
JAMA Netw Open ; 1(3): e180769, 2018 07 06.
Artigo em Inglês | MEDLINE | ID: mdl-30646031

RESUMO

Importance: Allogeneic hematopoietic stem cell transplantation is the standard intervention for childhood cerebral X-linked adrenoleukodystrophy. However, the pretransplant conditions, demyelination patterns, complications, and neurological outcomes of this therapy are not well characterized. Objectives: To identify the risks to stable neurocognitive survival after hematopoietic stem cell transplantation and to describe subgroups of patients with distinct clinical long-term outcomes. Design, Setting, and Participants: This case series analyzed the treatment and outcome of a cohort of 36 boys who underwent hematopoietic stem cell transplantation at Charité Universitätsmedizin Berlin, Germany, between January 1, 1997, and October 31, 2014. Case analysis was performed from January 1, 2016, through November 30, 2017. During this retrospective review, the adrenoleukodystrophy-disability rating score and the neurological function score were used. Demyelinating lesions in the brain were quantified by the Loes score. Main Outcomes and Measures: Overall survival, survival without major functional disabilities, and event-free survival were analyzed. Patients' clinical symptoms, demyelination patterns, and stem cell source were stratified. Results: Of the 36 boys who underwent hematopoietic stem cell transplantation, the median (range) age was 7.2 (4.2-15.4) years; 18 were presymptomatic and 18 were symptomatic. Twenty-seven patients (75%) were alive at a median (interquartile range [IQR]) follow-up of 108 (40-157) months. Sixteen of 18 presymptomatic patients (89%) survived, and 13 (72%) had an event-free survival with a median (IQR) survival time of 49 (37-115) months. Among the symptomatic patients, 11 of 18 (61%) survived, but only 1 was an event-free survival (6%) (median [IQR] time, 9 [3-22] months). Of the 9 patients who received a bone marrow transplant from a matched family donor, all survived. Among the 36 patients, 6 disease-related deaths (17%) and 3 transplant-related deaths (8%) occurred. Deaths from disease progression (n = 6) occurred only in patients with demyelination patterns other than parieto-occipital. In total, 18 patients (50%) displayed limited parieto-occipital (Loes score <9) or frontal (Loes score <4) demyelination before transplant (favorable). None of these patients died of progressive disease or developed major functional disabilities, 15 of them were characterized by stable neuroimaging after the transplant, and event-free survival was 77% (95% CI, 60%-100%). In contrast, the other 18 patients with more extended parieto-occipital demyelination (n = 6), frontal involvement (n = 4), or other demyelination patterns (n = 8) progressed (unfavorable): 13 patients developed epilepsy and 10 developed major functional disabilities, and their event-free survival was 0%. This newly defined neuroimaging assessment correlated best with neurocognitive deterioration after transplant (hazard ratio, 16.7; 95% CI, 4.7-59.6). Conclusions and Relevance: All patients with favorable neuroimaging who received matched bone marrow remained stable after transplant, while some of the other patients developed major functional disabilities. Newborn screening for the disease and regular neuroimaging are recommended, and patients who lack a matched bone marrow donor may need to find new therapeutic options.


Assuntos
Adrenoleucodistrofia/cirurgia , Transplante de Células-Tronco Hematopoéticas , Adolescente , Criança , Pré-Escolar , Progressão da Doença , Humanos , Masculino , Transtornos Neurocognitivos/epidemiologia , Complicações Pós-Operatórias/epidemiologia , Estudos Retrospectivos , Medição de Risco , Fatores de Tempo , Transplante Homólogo
9.
BMJ Case Rep ; 20172017 Oct 23.
Artigo em Inglês | MEDLINE | ID: mdl-29066632

RESUMO

An infantpresented with right upper eyelid ptosis and was subsequently diagnosed with acquired Horner syndrome. Further evaluation revealed a right-sided cervicothoracic lymphatic malformation. At 13 weeks of age, the child underwent percutaneous intracystic sclerotherapy with a mixture of sodium tetradecyl sulphate and ethanol. Twenty-one weeks after initial treatment, ophthalmic examination showed complete resolution of the blepharoptosis and pupillary miosis. Percutaneous sclerotherapy not only effectively treated the space-occupying lymphatic malformation but also reversed the Horner syndrome that was presumably induced by neural tension (more likely) or compression.


Assuntos
Blefaroptose/diagnóstico , Síndrome de Horner/complicações , Anormalidades Linfáticas/diagnóstico , Escleroterapia/métodos , Blefaroptose/etiologia , Síndrome de Horner/diagnóstico , Síndrome de Horner/diagnóstico por imagem , Síndrome de Horner/tratamento farmacológico , Humanos , Lactente , Recém-Nascido , Anormalidades Linfáticas/diagnóstico por imagem , Anormalidades Linfáticas/tratamento farmacológico , Anormalidades Linfáticas/patologia , Imageamento por Ressonância Magnética/métodos , Miose/tratamento farmacológico , Resultado do Tratamento
10.
Eur J Paediatr Neurol ; 20(6): 977-979, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27323659

RESUMO

Lyme neuroborreliosis is a frequent cause of facial nerve palsy in children, isolated oculomotor nerve palsy due to Borrelia-associated nervous system infection however is rarely seen. Here we report a case of isolated oculomotor nerve palsy due to a nervous system infection with Borrelia burgdorferi in childhood and restitutio in integrum after intravenous antibiotic therapy.


Assuntos
Neuroborreliose de Lyme/complicações , Doenças do Nervo Oculomotor/etiologia , Antibacterianos/uso terapêutico , Blefaroptose/etiologia , Borrelia burgdorferi , Ceftriaxona/uso terapêutico , Pré-Escolar , Feminino , Humanos , Neuroborreliose de Lyme/tratamento farmacológico , Exame Neurológico , Resultado do Tratamento
11.
Am J Med Genet A ; 170A(4): 1080-5, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26799614

RESUMO

Osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS) are variable genetic disorders that overlap in different ways [Cole 1993; Grahame 1999]. Here, we describe a boy presenting with severe muscular hypotonia, multiple fractures, and joint hyperflexibility, features that are compatible with mild OI and hypermobility type EDS, respectively. By whole exome sequencing, we identified both a COL1A1 mutation (c.4006-1G > A) inherited from the patient's mildly affected mother and biallelic missense variants in TNXB (p.Val1213Ile, p.Gly2592Ser). Analysis of cDNA showed that the COL1A1 splice site mutation led to intron retention causing a frameshift (p.Phe1336Valfs*72). Type 1 collagen secretion by the patient's skin fibroblasts was reduced. Immunostaining of a muscle biopsy obtained from the patient revealed a clear reduction of tenascin-X in the extracellular matrix compared to a healthy control. These findings imply that the combination of the COL1A1 mutation with the TNXB variants might cause the patient's unique phenotype.


Assuntos
Colágeno Tipo I/genética , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/genética , Heterozigoto , Mutação , Osteogênese Imperfeita/diagnóstico , Osteogênese Imperfeita/genética , Fenótipo , Tenascina/genética , Alelos , Colágeno Tipo I/metabolismo , Cadeia alfa 1 do Colágeno Tipo I , Análise Mutacional de DNA , Exoma , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Imuno-Histoquímica , Lactente , Masculino , Linhagem
12.
Childs Nerv Syst ; 31(9): 1499-507, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26081175

RESUMO

OBJECTIVE: In patients with risk of reclosure of a performed opening in the floor of the third ventricle, a stented endoscopic third ventriculostomy (sETV) was performed to maintain continuous cerebrospinal fluid (CSF) diversion in patients with occlusive hydrocephalus. A retrospective analysis of a patient series is presented. METHODS: A cohort of nine patients (median age 12 years and 9 months; range 1 month to 25 years and 9 months) was studied retrospectively. Etiology of hydrocephalus was aqueduct stenosis due to tumorous occlusion and tumorous infiltration of the third ventricular floor in seven of nine patients. For two patients with simple aqueductal stenosis, a sETV was performed because of young age of 1 month in one and because of previous ETV failure in the other. RESULTS: Correct placement of the implanted stent was demonstrated in all treated patients. There was no operative morbidity after the performed sETV. Resolution or improvement of symptoms was achieved in eight of nine patients (88.9%), and failure to control clinical symptoms was observed in one patient (11.1%), who needed subsequent shunt insertion. Decreased ventricular dimensions were seen after the sETV procedure. The median fronto-occipital horn ratio (FOHR) decreased from 0.46 (range 0.43-0.58) to 0.45 (range 0.37 to 0.59) after a median of 3 months and to a median of 0.40 (range 0.30 to 0.50) after 17 months. The median fronto-occipital horn width ratio FOHWR decreased from 0.31 (range 0.22 to 0.52) to 0.28 (range 0.14 to 0.52, p = 0.06) after a median of 3 months and to a median of 0.21 (range 0.09 to 0.36, p < 0.05). CONCLUSION: sETV is a feasible and safe alternative procedure which when performed with an appropriate trajectory allows treatment of occlusive hydrocephalus with altered anatomy of the third ventricular floor. sETV has been demonstrated to resolve or improve clinical and radiological signs of disturbed CSF circulation.


Assuntos
Hidrocefalia/cirurgia , Terceiro Ventrículo/cirurgia , Ventriculostomia/métodos , Adolescente , Adulto , Neoplasias Encefálicas/complicações , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Hidrocefalia/etiologia , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Resultado do Tratamento , Adulto Jovem
14.
World Neurosurg ; 84(2): 327-36, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25818148

RESUMO

OBJECTIVE: A Sylvian fissure arachnoid cyst (SAC) is a well-recognized location for an intracranial arachnoid cyst in the pediatric population. For those cysts, which can rupture and be accompanied by a subdural hygroma or hematoma, several treatment modalities have been reported. We report clinical and radiological outcome of fenestration of these cysts by either endoscopy or microsurgery. METHODS: A retrospective review of the database of operative procedures revealed 24 procedures (20 endoscopic and 4 microsurgical procedures) to fenestrate a SAC at university hospitals in Berlin, Germany and Tokyo, Japan. RESULTS: With the applied technique, a reduction of SAC volume of more than 10% was achieved in 83.3% of all patients. The median volume of SACs (n = 24) was significantly reduced from 83.5 mL (range 21-509 mL) preoperatively to 45.5 mL (range 8.4-261 mL; P < 0.01) after 3.5 months and to 29.0 mL (range 0-266 mL; P < 0.01) after 15 months. In children (n = 8) with a ruptured SAC the combined extraaxial volume of a SAC and accompanying hygroma/hematoma was reduced from 166 mL (range 111-291 mL) before surgery to 127 mL (range 87-329 mL) after 2 months and to 77 mL (range 25-140 mL; P < 0.05) after 11 months. Acute clinical symptoms were generally resolved postoperatively; headaches were resolved or improved in 75%. A significant association of resolution or improvement of headaches and volume reduction was demonstrated. CONCLUSIONS: The study demonstrated efficacy in a predominantly endoscopically treated patient cohort with Sylvian fissure arachnoid cysts, as indicated by improvement of clinical symptoms and diminished radiological SAC volume after treatment.


Assuntos
Cistos Aracnóideos/diagnóstico por imagem , Cistos Aracnóideos/cirurgia , Microcirurgia , Neuroendoscopia , Lobo Temporal , Adolescente , Criança , Pré-Escolar , Feminino , Alemanha , Humanos , Lactente , Japão , Masculino , Radiografia , Estudos Retrospectivos , Resultado do Tratamento
15.
Forensic Sci Int Genet ; 15: 90-7, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25466970

RESUMO

Berlin originated from the two twin cities Berlin and Cölln, which both were founded at the beginning of the 13th century. However the real date of their foundation as well as the origin of the first settlers is still unknown. On the Berlin site the historic city center is still visible in the Nikolaiviertel, but the medieval origin of Cölln disappeared almost completely. In 2007 a large scale excavation, which comprised an area of about 1700m(2) of the historical center of the St. Peters church, recovers the remains of Cölln's first citizens and span a period of 500 years of medieval population. Here we present the first genetic analysis of a fivefold children's burial from excavations in Berlin. The genetic data unveiled next to ancestry and eye color data also the kinship and the gender of the five individuals. Together with the archeological context the new gained information help to shed more light on the possible reasons for this burial.


Assuntos
Rituais Fúnebres , Genética Médica , Criança , Cromossomos Humanos Y , DNA Mitocondrial/genética , Família , Alemanha , História Medieval , Humanos
16.
IDCases ; 2(1): 22-4, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26793443

RESUMO

The treatment of brain abscesses in newborn infants is controversial. We report on a 6-week-old infant with multiple brain abscesses caused by Citrobacter koseri that resolved after treatment with combined surgical drainage and intravenous therapy with meropenem and fosfomycin.

17.
Orphanet J Rare Dis ; 9: 113, 2014 Oct 21.
Artigo em Inglês | MEDLINE | ID: mdl-25332050

RESUMO

Warburg micro syndrome (WARBM) is a genetic heterogeneous disease characterized by microcephaly, intellectual disability, brain, ocular, and endocrine anomalies. WARBM1-4 can be caused by biallelic mutations of the RAB3GAP1 (RAB3 GTPase-activating protein 1), RAB3GAP2, RAB18 (RAS-associated protein RAB18), or TBC1D20 (TBC1 domain protein, member 20) gene, respectively. Here, we delineate the so far largest intragenic homozygous RAB3GAP1 microdeletion. Despite the size of the RAB3GAP1 gene deletion, the patient phenotype is mainly consistent with that of other WARBM1 patients, supporting strongly the theory that WARBM1 is caused by a loss of RAB3GAP1 function. We further highlight osteopenia as a feature of WARBM1.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Catarata/congênito , Córnea/anormalidades , Deleção de Genes , Homozigoto , Hipogonadismo/diagnóstico , Hipogonadismo/genética , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Microcefalia/diagnóstico , Microcefalia/genética , Atrofia Óptica/diagnóstico , Atrofia Óptica/genética , Proteínas rab3 de Ligação ao GTP/genética , Catarata/diagnóstico , Catarata/genética , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Linhagem
18.
Childs Nerv Syst ; 30(9): 1517-26, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24917492

RESUMO

OBJECTIVE: Several techniques to remodel the posterior calvarium in order to increase intracranial volume (ICV) and to improve cosmetic appearance are reported. This study presents the results of meander technique in patients with brachycephaly and posterior plagiocephaly. METHODS: During December 2011 and July 2013, a total of 12 children (median age: 15 months) underwent posterior cranial vault remodeling by the meander technique (brachycephaly, n = 6; posterior plagiocephaly, n = 6). The available pre- and postoperative MRIs were assessed with regard to ICV, cranial index (CI) and asymmetry index (AI) as well as the position of the cerebellar tonsils. RESULTS: No intra- or postoperative complications were observed. Blood transfusions were necessary in nine of 12 patients. A significant increase of the ICV from 1,178.4 ± 134.5 to 1,293.0 ± 137.5 cm(3) (p < 0.05) is demonstrated. In the patients with brachycephaly the CI was significantly improved from 0.97 ± 0.12 to 0.89 ± 0.12 postoperatively (p < 0.05). The AI in patients with posterior plagiocephaly was significantly ameliorated from 0.83 ± 0.04 to 0.92 ± 0.02 postoperatively (p < 0.05). There was a significant effect on cerebellar tonsil position in relation to foramen magnum level for patients with brachycephaly (right tonsil: 11.9 ± 9.2 to 7.0 ± 9.1 mm, p < 0.05; left: 10.8 ± 9.5 to 9.7 ± 10.6 mm; p < 0.05) as well as in posterior plagiocephaly for the ipsilateral tonsil (3.2 ± 3.5 to 1.6 ± 3.5 mm; p < 0.01). CONCLUSION: The presented surgical technique is considered to be safe. The technique is capable to significantly increase ICV and improve cosmetic appearance of the remodeled calvarium. Further evidence that posterior cranial vault remodeling influences the position of the cerebellar tonsils is added by the results of the study.


Assuntos
Remodelação Óssea , Craniossinostoses/terapia , Aparelhos Ortopédicos , Modalidades de Fisioterapia/instrumentação , Plagiocefalia/terapia , Crânio/fisiopatologia , Cefalometria , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Estudos Retrospectivos , Índice de Gravidade de Doença , Crânio/fisiologia , Crânio/cirurgia , Resultado do Tratamento
19.
Meta Gene ; 2: 72-82, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25606391

RESUMO

Interstitial deletions of chromosome 12p are rare, and the phenotype spectrum is therefore still unknown. The thirteen patients reported so far suffer from developmental delay, optic nerve hypoplasia, micropenis, hypoplastic hair and skin, oligodontia, brachydactyly, and arterial hypertension. We report a de novo 12p12.2-p11.22 deletion of 9.2 Mb detected by array CGH analysis in a boy with global developmental delay, muscular hypotonia, postnatal microcephaly, facial dysmorphism including small ears, epicanthus, broad nasal bridge and hypoplastic nostrils. In addition, the patient had optic nerve atrophy, inverted nipples, micropenis, and a hemangioma. The deleted region encompasses more than 40 reference genes. We compare phenotype and deletion extent of our index patient to that of previous reports and thereby contribute to the understanding of interstitial 12p deletion phenotypes. Knowledge of the pattern of this deletion phenotype will help clinicians to diagnose this abnormality in their patients and to counsel the parents accordingly. Further descriptions may be able to contribute to the clarification.

20.
Z Kinder Jugendpsychiatr Psychother ; 41(6): 447-51, 2013 Nov.
Artigo em Alemão | MEDLINE | ID: mdl-24240500

RESUMO

Numerous research centres apply magnetic resonance imaging (MRI) for research purposes in children. In view of this practical research, ethical concerns regarding the strains the study participants are exposed to during the MRI examination are discussed. The study evaluates whether an MRI examination induces negative emotions in children and adolescents which are more intense than the ones caused by electroencephalography (EEG), an examination method currently classified as causing "minimal stress." Furthermore, the emotional stress induced by the MRI examination in children and adolescents is compared with that induced in adults. The study gathers data on examination-related emotions in children (age 8-17;11, male and female) who undergo an MRI examination of the cerebrum with a medical indication. The comparison group is a sample of children and adolescents examined with EEG (age 8-17;11, male and female) as well as a sample of adults (age 18-65, male and female) examined with MRI. At present, the study is in the stage of data collection. This article presents the study design of the MRI research project.


Assuntos
Encéfalo/patologia , Emoções , Imageamento por Ressonância Magnética/psicologia , Adolescente , Adulto , Criança , Eletroencefalografia/ética , Eletroencefalografia/psicologia , Emoções/ética , Ética Médica , Feminino , Alemanha , Humanos , Imageamento por Ressonância Magnética/ética , Masculino , Pessoa de Meia-Idade , Estresse Psicológico/complicações , Estresse Psicológico/psicologia , Inquéritos e Questionários , Adulto Jovem
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