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1.
Cereb Cortex ; 34(4)2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38629798

RESUMO

The prevalence of posttraumatic olfactory dysfunction in children after mild traumatic brain injury ranges from 3 to 58%, with potential factors influencing this variation, including traumatic brain injury severity and assessment methods. This prospective longitudinal study examines the association between mild traumatic brain injury and olfactory dysfunction in children. Seventy-five pediatric patients with mild traumatic brain injury and an age-matched healthy control group were enrolled. Olfactory function was assessed using the Sniffin' Sticks battery, which focuses on olfactory threshold and odor identification. The study found that children with mild traumatic brain injury had impaired olfactory function compared with healthy controls, particularly in olfactory threshold scores. The prevalence of olfactory dysfunction in the patient group was 33% and persisted for 1 yr. No significant association was found between traumatic brain injury symptoms (e.g. amnesia, loss of consciousness) and olfactory dysfunction. The study highlights the importance of assessing olfactory function in children after mild traumatic brain injury, given its potential impact on daily life. Although most olfactory dysfunction appears transient, long-term follow-up is essential to fully understand the recovery process. The findings add valuable insights to the limited literature on this topic and urge the inclusion of olfactory assessments in the management of pediatric mild traumatic brain injury.


Assuntos
Concussão Encefálica , Lesões Encefálicas Traumáticas , Transtornos do Olfato , Humanos , Criança , Concussão Encefálica/complicações , Estudos de Casos e Controles , Transtornos do Olfato/etiologia , Estudos Prospectivos , Estudos Longitudinais , Olfato , Odorantes , Lesões Encefálicas Traumáticas/complicações
2.
J Clin Med ; 12(17)2023 Aug 31.
Artigo em Inglês | MEDLINE | ID: mdl-37685751

RESUMO

BACKGROUND: The minimally invasive implementations of the established open methods for the correction of primary vesicoureteral reflux have proven to be successful in terms of feasibility and safety. The aim of this study was to investigate to what extent pediatric patients benefit from vesicoscopic operations. METHODS: Between 2010 and 2022, 224 children (359 ureters) underwent ureteral reimplantation for vesicoureteral reflux in our clinic. Children, operated on according to the COHEN technique, underwent an open approach in 39 cases, whereas 151 patients were operated on vesicoscopically. A total of thirty-four children have received a ureteral reimplantation according to the LEADBETTER-POLITANO technique: twenty-nine openly and five vesicoscopically. The open and vesicoscopic groups were compared with regards to perioperative data and postoperative course. RESULTS: The mean operating time was significantly shorter for open than for the vesicoscopic procedures in the COHEN group (99 vs. 149 min, p < 0.001). Similarly, a comparison of ureteral reimplantations, according to LEADBETTER-POLITANO, favored the open procedure, although this was not significant (161 vs. 196 min, p = 0.135). There was no significant difference in the recurrence rate of all the groups. All procedures remained within the accepted range with a success rate of at least 96%. In the postoperative course, a significantly shorter hospital stay (4.1 vs. 7.9 days, p < 0.001 for COHEN-patients; 5.6 vs. 9.2 days for LEADBETTER-POLITANO-patients), as well as a significantly lower need for continuous analgesic administration, was observed for the vesicoscopic approaches of both methods (0.8 days in both vesicoscopic groups vs. 3.7 resp. 3.8 days in open groups, p < 0.001). In addition, the time of bladder drainage was significantly shorter in open techniques (7.2 vs. 1.9 days, p < 0.001 for COHEN-patients; 3 vs. 8.7 days for LEADBETTER-POLITANO-patients). CONCLUSIONS: For almost all underlying causes, the surgical treatment of vesicoureteral reflux can be performed vesicoscopically, even if bilateral, in one session. Patients benefit significantly from the use of minimally invasive surgery in the postoperative course with faster mobilization, less need for analgesics, a shorter bladder drainage and a reduced hospital stay, compared with its open counterparts.

3.
Brain Inj ; 37(11): 1272-1284, 2023 09 19.
Artigo em Inglês | MEDLINE | ID: mdl-37486172

RESUMO

OBJECTIVE: Mild traumatic brain injury (mTBI) might impair the sense of smell and cognitive functioning. Repeated, systematic exposure to odors, i.e., olfactory training (OT) has been proposed for treatment of olfactory dysfunctions, including post-traumatic smell loss. Additionally, OT has been shown to mitigate cognitive deterioration in older population and enhance selected cognitive functions in adults. We aimed to investigate olfactory and cognitive effects of OT in the pediatric population after mTBI, likely to exhibit cognitive and olfactory deficits. METHODS: Our study comprised 159 children after mTBI and healthy controls aged 6-16 years (M = 9.68 ± 2.78 years, 107 males), who performed 6-months-long OT with a set of 4 either high- or low-concentrated odors. Before and after OT we assessed olfactory functions, fluid intelligence, and executive functions. RESULTS: OT with low-concentrated odors increased olfactory sensitivity in children after mTBI. Regardless of health status, children who underwent OT with low-concentrated odors had higher fluid intelligence scores at post-training measurement, whereas scores of children performing OT with high-concentrated odors did not change. CONCLUSION: Our study suggests that OT with low-concentrated odors might accelerate rehabilitation of olfactory sensitivity in children after mTBI and support cognitive functions in the area of fluid intelligence regardless of head trauma.


Assuntos
Concussão Encefálica , Transtornos do Olfato , Criança , Adulto , Masculino , Humanos , Idoso , Concussão Encefálica/complicações , Transtornos do Olfato/etiologia , Transtornos do Olfato/psicologia , Treinamento Olfativo , Olfato , Odorantes
4.
Front Cell Infect Microbiol ; 13: 1027769, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37228669

RESUMO

Background: Appendicitis is a frequent condition, with peak incidences in the second decade of life. Its pathogenesis is under debate, but bacterial infections are crucial, and antibiotic treatment remains essential. Rare bacteria are accused of causing complications, and various calculated antibiotics are propagated, yet there is no comprehensive microbiological analysis of pediatric appendicitis. Here we review different pre-analytic pathways, identify rare and common bacterial pathogens and their antibiotic resistances, correlate clinical courses, and evaluate standard calculated antibiotics in a large pediatric cohort. Method: We reviewed 579 patient records and microbiological results of intraoperative swabs in standard Amies agar media or fluid samples after appendectomies for appendicitis between May 2011 and April 2019. Bacteria were cultured and identified via VITEK 2 or MALDI-TOF MS. Minimal inhibitory concentrations were reevaluated according to EUCAST 2022. Results were correlated to clinical courses. Results: Of 579 analyzed patients, in 372 patients we got 1330 bacterial growths with resistograms. 1259 times, bacteria could be identified to species level. 102 different bacteria could be cultivated. 49% of catarrhal and 52% of phlegmonous appendices resulted in bacterial growth. In gangrenous appendicitis, only 38% remained sterile, while this number reduced to 4% after perforation. Many fluid samples remained sterile even when unsterile swabs had been taken simultaneously. 40 common enteral genera were responsible for 76.5% of bacterial identifications in 96.8% of patients. However, 69 rare bacteria were found in 187 patients without specifically elevated risk for complications. Conclusion: Amies agar gel swabs performed superior to fluid samples and should be a standard in appendectomies. Even catarrhal appendices were only sterile in 51%, which is interesting in view of a possible viral cause. According to our resistograms, the best in vitro antibiotic was imipenem with 88.4% susceptible strains, followed by piperacillin-tazobactam, cefuroxime with metronidazole, and ampicillin-sulbactam to which only 21.6% of bacteria were susceptible. Bacterial growths and higher resistances correlate to an elevated risk of complications. Rare bacteria are found in many patients, but there is no specific consequence regarding antibiotic susceptibility, clinical course, or complications. Prospective, comprehensive studies are needed to further elicit pediatric appendicitis microbiology and antibiotic treatment.


Assuntos
Apendicite , Humanos , Criança , Apendicite/complicações , Apendicite/epidemiologia , Apendicite/cirurgia , Estudos Retrospectivos , Estudos Prospectivos , Ágar/uso terapêutico , Antibacterianos/farmacologia , Antibacterianos/uso terapêutico , Bactérias
5.
Medicina (Kaunas) ; 58(12)2022 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-36556976

RESUMO

Background and Objectives: Marfan syndrome (MS) is a genetic disorder with autosomal dominant inheritance that affects the connective tissue and consequently many organ systems. The cardiovascular manifestations of MS are notorious and include aortic root dilatation or acute aortic dissection, which can cause morbidity and early mortality. However, surgical treatment of aortic pathology may be complicated by musculoskeletal deformity of the chest wall, as in pectus excavatum. In this regard, single-stage combined Bentall and Ravitch surgery is an extreme rarity that has also been scarcely reported in the literature. Patients and Methods: We present the medical history and single-stage Bentall and modified Ravitch surgical treatment of an 18-year-old male MS patient with symptomatic and severe pectus excavatum (PEX) in conjunction with a pear-shaped aortic root aneurysm. To discuss our case in the context of a synopsis of similar published cases, we present a systematic review of combined Bentall surgical aortic aneurysm repair and Ravitch correction of PEX. Results: A total of four studies (one case series and three case reports) and a case from our institution describing a single-stage combined Bentall and Ravitch operation were included. Patients were 22 ± 5.9 years of age (median = 22.5 years) and predominantly male (60%). All cases reported a midline vertical skin incision over the sternum. The most common surgical approach was midsternotomy (80%). In all cases metal struts were used to reinforce the corrected chest wall. Postoperative mortality was zero. Conclusions: Single-stage combined Bentall and Ravitch surgery is an underutilized surgical approach. Its use in MS patients with concomitant PEX and ascending aortic aneurysm that require surgical treatment warrants further investigation. Midsternotomy seems to be a viable access route that provides sufficient exposure in the single-stage surgical setting. Although operative time is long, the intraoperative and postoperative risks appear to be low and manageable.


Assuntos
Dissecção Aórtica , Tórax em Funil , Síndrome de Marfan , Humanos , Masculino , Adulto Jovem , Adulto , Adolescente , Feminino , Tórax em Funil/complicações , Tórax em Funil/cirurgia , Síndrome de Marfan/complicações , Síndrome de Marfan/cirurgia , Esterno/cirurgia , Dissecção Aórtica/cirurgia , Aorta , Resultado do Tratamento
6.
European J Pediatr Surg Rep ; 10(1): e68-e72, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35865511

RESUMO

A 7-year-old boy presented 6 weeks after open reduction and crossed Kirschner wire (K-wire) fixation of a supracondylar humerus fracture. Previous treatments had restored skeletal anatomy without documented complications. However, the patient would not move the entire arm, including his forearm and hand. Any passive movement led to anxious adverse reactions, and there was partial numbness of all fingers. After intensive physio- and occupational therapy supported by nerve stimulation and psychological counseling, anxiety-related functional deficits of the shoulder and elbow resolved to reveal the severe Volkmann contracture of the right hand developed fully. Electroneurography, X-ray, magnetic resonance imaging of the forearm, and ultrasonography showed nonfunctional ulnar and a partially disturbed radial motor nerve distal to the elbow along with damaged flexor muscles of the forearm after compartment syndrome. In addition, damage to the median nerve at the elbow level was diagnosed. After intense conservative therapy, we partially resected fibrotic fascia of the superficial flexor compartment, freed ulnar and median nerves, and performed staircase-like releases of tendons and tenotomies. We achieved a full range of motion of all fingers and markedly improved the range of motion of the wrist. The Disabilities of the Arm, Shoulder and Hand scores for function improved from 80 to 16 at the 2-year follow-up postoperatively, but some impairments of fine motor function persisted. Subtle symptoms of a developing compartment syndrome need to be recognized. Overlooked and untreated, a consecutive Volkmann contracture can turn the extremity nonfunctional. Intensive physical, psychological, and surgical therapy in a specialized center can restore function but requires endurance and perseverance throughout the lengthy recovery.

7.
Medicine (Baltimore) ; 101(27): e29324, 2022 Jul 08.
Artigo em Inglês | MEDLINE | ID: mdl-35801770

RESUMO

BACKGROUND: Human fingertips can regenerate functionally and cosmetically excellent skin and soft tissues. Physiological conditions suppress scar formation and are thus a prerequisite for regenerative healing. Self-adhesive film dressings can provide such favorable conditions. The semi-occlusive treatment is superior to surgery. However, standard dressings leak malodorous wound fluid eventually until the wound is dry. Therefore, we developed and tested a silicone finger cap that forms a mechanically protected, wet chamber around the injury. Its puncturable reservoir allows access to the wound fluid for diagnostic and research purposes and the delivery of pro-regenerative drugs in the future. METHODS: Patients >2 years with full-thickness fingertip injuries unsuitable for simple primary closure were randomized to start treatment with either the film dressing or the silicone finger cap. After 2 weeks, we changed to the other treatment. Patients' choice on the preferred treatment after 4 weeks was the primary outcome parameter. Additionally, we monitored adverse events, unplanned visits, tissue gain, functionality, cosmetic outcome, and quality of life. RESULTS: We randomized 11 patients 2 to 72 years to each group. Eighteen to 20 (90%, intention-to-treat) patients preferred the finger cap. All patients were satisfied with the cosmetic outcome, 88.9% had no disturbing sensibility changes, and 73.7% could report no distortion in the finger's daily use. Epithelialization took between 5 weeks for Allen II and up to 9 weeks in Allen IV injuries. There were 19 device-related adverse events under film dressing and 13 under the finger cap. There were neither severe adverse device effects nor unexpected severe adverse device effects. CONCLUSION: Employing the summative or synthetic primary endpoint "patient decision for one or the other procedure," our pseudocross-over-designed RCT succeeded in statistically significantly demonstrating the superiority of the silicone finger cap over conventional film therapy. The finger cap was safe and effective, reaching excellent results on all treated injuries without any need for disinfection, antibiotics, shortening of protruding bones, or treatment of hypergranulations. Distal to the tendon insertions, we did not see any limitations regarding injury mechanism, amputation plane, or patients' age.


Assuntos
Amputação Traumática , Traumatismos dos Dedos , Adulto , Amputação Traumática/terapia , Criança , Traumatismos dos Dedos/terapia , Humanos , Curativos Oclusivos , Qualidade de Vida , Silicones/uso terapêutico
8.
Medicine (Baltimore) ; 101(19): e29258, 2022 May 13.
Artigo em Inglês | MEDLINE | ID: mdl-35583535

RESUMO

BACKGROUND: Supracondylar humerus fractures (SHF) are the second most common fracture in children and the most common fracture in children under seven years. Subtle neurovascular lesions in displaced SHF may be underdiagnosed clinically, but their sequelae can mean life-long symptoms. Here we show that color-coded duplex ultrasound (DUS) could help to identify these patients. METHODS: We reviewed records of 229 children who had recovered from SHF. Ninety patients were available for detailed questionnaires, in-depth neurovascular examinations, and DUS. RESULTS: In 90 examined patients, only two had been known to have suffered from vascular complications before our study. Only one still complained spontaneously about perfusion-induced symptoms. Qualitative changes in blood flow in duplex-sonography were detectable in both. Another two patients showed similar changes in blood flow at the fracture site. Both reported load-induced pain and paresthesia on detailed inquisition when no vascular impairments had been known before. Thus, duplex-sonography identified two patients with vascular affections that had not been noticed before in routine clinical examinations. CONCLUSION: DUS can be a sensitive tool in diagnosing vascular impairments in patients with SHF. It could reduce diagnostic insecurity, especially in anesthetized or otherwise hard to examine children, and thus help avoid the therapeutic delay that otherwise might foster life-long sequelae for the patients. More studies are needed to establish age-adjusted reference values for duplex-sonography of children's arms. Level of Evidence: Level III, Study of nonconsecutive patients (without consistently applied reference).


Assuntos
Fraturas do Úmero , Criança , Humanos , Fraturas do Úmero/complicações , Fraturas do Úmero/diagnóstico por imagem , Úmero , Valores de Referência , Ultrassonografia Doppler Dupla
9.
Children (Basel) ; 9(2)2022 Feb 21.
Artigo em Inglês | MEDLINE | ID: mdl-35205018

RESUMO

For the treatment of vesicoureteral reflux, the introduction of vesicoscopic procedures offers new perspectives for improving patient comfort and quality. Our aim was to examine whether minimally invasive vesicoscopic cross-trigonal ureteral reimplantation (VCUR) would meet expectations. Between 2012 and 2021, 99 girls and 35 boys with high-grade vesicoureteral reflux (VUR) underwent VCUR. For two boys, we failed to establish the pneumovesicum, leading to conversion to open surgery. The mean age was 4.5 years, ranging from 10 months to 18 years. VCUR was successfully performed in 132 patients, including 75 patients with bilateral VUR and 12 children with double ureters with unilateral or bilateral VUR, corresponding to a total of 229 operated ureters. The mean time of operation was 151 min for all patients. There were no perioperative complications, with the exception of three cases of pneumoperitoneum without consequences. Postoperatively, we recognized three cases of acute hydronephrosis, two of them required transient drainage. Three patients developed extravasation of urine after the postoperative removal of the transurethral catheter, rapidly resolved by new drainage. In two patients, we combined VCUR with laparoscopic heminephrectomy and opposite laparoscopic nephrectomy, respectively. Overall, mean postoperative hospital stay was 4.2 days. We observed recurrent VUR in seven ureters, resulting in a success rate for VCUR of 96.9%. These results demonstrate the feasibility of VCUR and its potential to displace open surgery with high safety and wide applicability.

10.
Mol Genet Genomic Med ; 10(2): e1864, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34981673

RESUMO

BACKGROUND: In addition to patient-related systemic factors directing the immune response, the pathomechanisms of appendicitis (AP) might also include insufficient drainage leading to inflammation caused by decreased peristalsis. Genetic predisposition accounts for 30%-50% of AP. M. Hirschsprung (HSCR), also characterized by disturbed peristalsis, is associated with variants in the RET proto-oncogene. We thus hypothesized that RET variants contribute to the etiology of AP. METHODS: DNA from paraffin-embedded appendices and clinical data of 264 children were analyzed for the RET c.135A>G variant (rs1800858, NC_000010.11:g.43100520A>G). In 46 patients with gangrenous or perforated AP (GAP), peripheral blood DNA was used for RET sequencing. RESULTS: Germline mutations were found in 13% of GAP, whereas no RET mutations were found in controls besides the benign variant p.Tyr791Phe (NC_000010.11:g.43118460A>T). In GAP, the polymorphic G-allele in rs2435352 (NC_000010.11:g.43105241A>G) in intron 4 was underrepresented (p = 0.0317). CONCLUSION: Our results suggest an impact of the RET proto-oncogene in the etiology of AP. Mutations were similar to patients with HSCR but no clinical features of HSCR were observed. The pathological phenotypes in both populations might thus represent a multigenic etiology including RET germline mutations with phenotypic heterogeneity and incomplete penetrance.


Assuntos
Apendicite , Doença de Hirschsprung , Proteínas Proto-Oncogênicas c-ret , Apendicite/genética , Doença de Hirschsprung/genética , Humanos , Proteínas Proto-Oncogênicas c-ret/genética
11.
Eur J Pediatr Surg ; 32(5): 391-398, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35026856

RESUMO

INTRODUCTION: Adequate patient volume is essential for the maintenance of quality, meaningful research, and training of the next generation of pediatric surgeons. The role of university hospitals is to fulfill these tasks at the highest possible level. Due to decentralization of pediatric surgical care during the last decades, there is a trend toward reduction of operative caseloads. The aim of this study was to assess the operative volume of the most relevant congenital malformations at German academic pediatric surgical institutions over the past years. METHODS: Nineteen chairpersons representing university-chairs in pediatric surgery in Germany submitted data on 10 index procedures regarding congenital malformations or neonatal abdominal emergencies over a 3-year period (2015 through 2017). All institutions were categorized according to the total number of respective cases into "high," "medium," and "low" volume centers by terciles. Some operative numbers were verified using data from health insurance companies, when available. Finally, the ratio of cumulative case load versus prevalence of the particular malformation was calculated for the study period. RESULTS: From 2015 through 2017, a total 2,162 newborns underwent surgery for congenital malformations and neonatal abdominal emergencies at German academic medical centers, representing 51% of all expected newborn cases nationwide. The median of cases per center within the study period was 101 (range 18-258). Four institutions (21%) were classified as "high volume" centers, four (21%) as "medium volume" centers, and 11 (58%) as "low volume" centers. The proportion of patients operated on in high-volume centers varied per disease category: esophageal atresia/tracheoesophageal fistula: 40%, duodenal atresia: 40%, small and large bowel atresia: 39%, anorectal malformations: 40%, congenital diaphragmatic hernia: 56%, gastroschisis: 39%, omphalocele: 41%, Hirschsprung disease: 45%, posterior urethral valves: 39%, and necrotizing enterocolitis (NEC)/focal intestinal perforation (FIP)/gastric perforation (GP): 45%. CONCLUSION: This study provides a national benchmark for neonatal surgery performed in German university hospitals. The rarity of these cases highlights the difficulties for individual pediatric surgeons to gain adequate clinical and surgical experience and research capabilities. Therefore, a discussion on the centralization of care for these rare entities is necessary.


Assuntos
Enterocolite Necrosante , Atresia Esofágica , Hérnias Diafragmáticas Congênitas , Doenças do Recém-Nascido , Fístula Traqueoesofágica , Criança , Emergências , Enterocolite Necrosante/cirurgia , Atresia Esofágica/cirurgia , Hérnias Diafragmáticas Congênitas/cirurgia , Hospitais Universitários , Humanos , Recém-Nascido , Fístula Traqueoesofágica/cirurgia
12.
Mol Genet Genomic Med ; 9(9): e1746, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34382369

RESUMO

BACKGROUND: Isolated myelosarcoma of infancy is a rare presentation of acute myelogenous leukaemia (AML). Because of its rarity and early onset in infancy underlying genetic predisposition is potentially relevant in disease initiation. METHODS AND RESULTS: We report an oncologic emergency in an infant with thoracic and intraspinal aleukaemic myeloid sarcoma causing acute myelon compression and lower leg palsy. Whole-exome sequencing of the patient's germline DNA identified a rare PALB2 (OMIM 610355) variant (p.A1079S), which is located in a domain critical for the gene's proper function within the homology-directed repair pathway. In line with potential DNA damage repair defects mediated by the PALB2 deregulation, the patient's fibroblasts showed increased sensitivity towards radiation and DNA intercalating agents. CONCLUSION: Therefore, we suggest PALB2 p.A1079S as a pathogenic variant potentially contributing to the here observed patient phenotype.


Assuntos
Proteína do Grupo de Complementação N da Anemia de Fanconi/genética , Sarcoma Mieloide/genética , Neoplasias da Coluna Vertebral/genética , Células Cultivadas , Proteína do Grupo de Complementação N da Anemia de Fanconi/metabolismo , Fibroblastos/metabolismo , Fibroblastos/fisiologia , Pontos de Checagem da Fase G2 do Ciclo Celular , Mutação em Linhagem Germinativa , Humanos , Lactente , Masculino , Sarcoma Mieloide/patologia , Neoplasias da Coluna Vertebral/patologia
13.
Int J Radiat Biol ; 97(3): 394-400, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33320756

RESUMO

PURPOSE: Caspases are common mediators of cell death. Evasion of cell death including apoptosis are considered to be hallmarks of cancer. A deeper understanding of the apoptotic cascade may aid improving cancer therapies. Our aim was to characterize the progression of cell death following UV-induced genotoxic injury in a defined cell culture model. MATERIALS AND METHODS: Hela cells were UV-irradiated with doses ranging from 0.1 to 60 mJ/cm2. Cells were counted and colony forming assays were performed with caspase inhibitors. RESULTS: In our model of HeLa cells, cells remain >90% viable until 6 hrs after UV radiation (UVR), but more than half of the cells are dead after 12 - 72 hrs after UVR. Within a dose range between 0.1 and 50 mJ/cm2, viability ranges roughly between 20 and 30%. The difference between the lowest dose applied (0.1 mJ/cm2) and the other doses applied is significant, with the exception of the next higher dose of 1 mJ/cm2. The activation of caspases precedes the cell death induction by several hrs. Caspase-9 starts to be activated at 1 hr after UVR followed by caspases 3, 6 and 7 which are fully active at 2 hrs after UVR while caspase-8 is fully active only 3 hrs after UVR. Most caspases are only weakly or not active at 0.1 mJ/cm2 after 3 hrs, but fully active at the same time point with increased radiation doses. PARP-1, a caspase substrate, is cleaved immediately after activation of the caspases. Colony formation activity of the tumor cells decreases exponentially after UVR dropping down to < 0.01% plating efficiency at a dose of 60 mJ/cm2. Interestingly, this drop in plating efficiency cannot be rescued by any of the two caspase inhibitors tested. CONCLUSIONS: UV-induced cell death in this model involves the activation of apoptosis-related caspases, but this activation seems to be dispensable for the execution of cell death. Further experiments should clarify which mechanisms of cell death are really necessary for the execution of this type of cell death.


Assuntos
Caspases/metabolismo , Dano ao DNA , Raios Ultravioleta/efeitos adversos , Sobrevivência Celular/efeitos da radiação , Ativação Enzimática , Células HeLa , Humanos
14.
Diagnostics (Basel) ; 10(8)2020 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-32751744

RESUMO

: The aim of this study was to find a prenatal parameter to be able to predict possible prenatal complications or postnatal surgical options, thus allowing the fetal medicine specialist, together with pediatric surgeons and neonatologists, to improve the counseling of the parents and to determine the timing of delivery and therapy. This was a retrospective analysis of prenatal diagnosis and outcome of fetuses with 34 cases of gastroschisis between the years 2007 and 2017. A total of 34 fetuses with gastroschisis were examined and 33 outcomes registered: 22 cases of simple gastroschisis (66.7%) and 11 cases of complex gastroschisis (33.3%). A cut-off value of 18 mm for intraabdominal bowel dilatation (IABD) showed a positive predictive value (PPV) of 100% for predicting simple gastroschisis. IABD gives the best prediction for simple versus complex gastroschisis (cut-off of 18 mm). Extra-abdominal bowel dilatation (EABD) cut-off values of 10 mm and 18 mm showed low sensitivity and specificity to predict complex gastroschisis.

15.
Artigo em Inglês | MEDLINE | ID: mdl-30430061

RESUMO

Introduction: Human fingertips are able to regenerate soft tissue and skin after amputation injuries with excellent cosmetic and functional results when treated with semiocclusive dressings. Despite bacterial colonizations, proceeding infections are not reported with this management. The underlying mechanisms for this form of regenerative healing as well as for the resilience to infections are not known. Due to the lack of mechanical protection, the leakage of maloderous woundfluid and the sometimes challenging application, conventional film dressings have their problems, especially in treating young children. We therefore treated selected patients with a novel silicone finger cap with an integrated wound fluid reservoir that enables atraumatic routine wound fluid aspiration. Methods: We report on 34 patients in between 1 and 13 years with traumatic fingertip amputations primarily treated with occlusive dressings. 12 patients were treated with a novel silicone finger cap. We summarized clinical data for each patient. This included photographs and microbiological results from wound fluid analyses, whenever available. Results: The results of both, conventional film dressing and silicone finger cap treatment, were excellent with no hypersensitivity and no restrictions in sensibility and motility. Even larger pulp defects were rearranged in a round shape and good soft tissue coverage of the distal phalanx was achieved. Nail deformities were not observed. We detected a wide spectrum of both aerobic and anaerobic bacteria in the wound fluids but infections were not observed. Epithelialization times did not differ significantly and no severe complications were seen in all primarily conservatively treated patients. Conclusion: This study provides preliminary data demonstrating that the treatment with the silicone finger cap leads to excellent clinical results in wound healing. Interestingly, the wounds were colonized with a wide range of bacteria including species that may cause wound infections. However, we saw no proceeding inflammation and the regeneration was undisturbed. In the future, the efficacy of this new management should be evaluated in randomized, controlled clinical trials to confirm the results under standard conditions and get more insight into the role of the wound microbiome as well as other factors that may promote regeneration. The aspirable Reservoir of the finger cap will enable easy atraumatic sampling of wound fluids both for diagnostic and for research purposes as well as possibly allowing direct administration of pro-regenerative drugs in the future.

16.
Eur J Med Res ; 23(1): 42, 2018 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-30219090

RESUMO

BACKGROUND: Chondral or osteochondral lesions, post-traumatic contracture and loose bodies of the elbow are often associated with chronic pain, stiffness, repetitive swelling and joint blockages. Therefore, arthroscopy of the elbow is often used in the elderly for the treatment of osteochondral defects or arthrolysis. There are only a few reports and studies about arthroscopic therapy of the elbow in children and adolescents. This study assesses the clinical outcome of arthroscopic therapy in this age group. METHODS: In a retrospective study, children and adolescents who underwent an elbow arthroscopy in the period from 2010 to 2014 were included. The children were evaluated using the validated outcome measures Mayo Elbow Performance Score (MEPS), range of motion, pain on visual analog scale (VAS), Oxford Elbow Score (OES), quick dash and postoperative satisfaction. Furthermore, all complications were analyzed. RESULTS: In total, 27 patients were included. The mean (range) age was 14 (11-17) years, with a follow-up of 45 months. Fourteen (52%) were female and thirteen children (48%) were male. Twenty children had an arthroscopy due to osteochondritis dissecans and seven children for post-traumatic pain and stiffness. The mean (standard deviation) MEPS improved from 65 (15) to 96 (8; p = .005). The OES and quick dash were 93 and 5.4. The mean extension improved from - 15° (± 13.8) to 3° (± 10.2; p < .001). The mean flexion improved from 131° (± 13.4) to 137° (± 9.5; p = .003). Average pain on VAS was postoperative .2 (± .5), and 81.5% of all children had excellent or good results. There were no complications such as damage of nerves or blood vessels observed. CONCLUSION: Elbow arthroscopy is an appropriate and safe treatment option in children and adolescents with good and excellent postoperative results.


Assuntos
Traumatismos do Braço/complicações , Artroscopia/métodos , Articulação do Cotovelo/cirurgia , Artropatias/cirurgia , Complicações Pós-Operatórias , Adolescente , Traumatismos do Braço/diagnóstico por imagem , Traumatismos do Braço/reabilitação , Traumatismos do Braço/cirurgia , Criança , Articulação do Cotovelo/diagnóstico por imagem , Feminino , Seguimentos , Humanos , Artropatias/diagnóstico por imagem , Artropatias/etiologia , Artropatias/reabilitação , Masculino , Amplitude de Movimento Articular , Recuperação de Função Fisiológica , Estudos Retrospectivos , Resultado do Tratamento
17.
Gene ; 677: 163-168, 2018 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-30056070

RESUMO

Hirschsprung's disease (HSCR) is a congenital disease characterized by intestinal obstruction due to a defective intestinal neural system. Frequently, the disease is associated with an intestinal inflammation. The most common known underlying genetic alterations are in the RET gene but HSCR can also be caused by mutations in other genes that are responsible for the maturation and migration of intestinal neural cells. Recently, a study in an Asian population reported a significant association of several single nucleotide polymorphisms (SNPs) in the IL11 (interleukin 11) gene with HSCR. We further explored the possible association of genetic alterations in the IL11 gene with HSCR and HSCR subtypes in an unrelated Caucasian population. We used a targeted sequencing approach to identify a total of 32 SNPs covering the coding region of the IL11 gene including the proximal part of the promoter and relevant SNPs described in the previous study. Genotype frequencies were compared using additive genetic models in 103 HSCR patients and 128 healthy controls. We failed to observe any significant association of SNPs with HSCR. However, there was a suggestive evidence for an association of the length of a dinucleotide repeat in the IL11 promoter region with HSCR with an over-representation of >7 GT repeat subtypes (OR = 4.982 (1.448-17.040), p-value = 0.0111) in HSCR patients. A similar trend was further observed in a subgroup of patients with long-segment HSCR (L-HSCR). These findings need to be replicated in a well-powered study. Changes in IL11 expression may be a link to the intestinal inflammation frequently observed in patients with HSCR.


Assuntos
Predisposição Genética para Doença/genética , Doença de Hirschsprung/genética , Interleucina-11/genética , Regiões Promotoras Genéticas/genética , Povo Asiático/genética , Estudos de Casos e Controles , Feminino , Genótipo , Humanos , Inflamação/genética , Intestinos/patologia , Masculino , Mutação/genética , Polimorfismo de Nucleotídeo Único/genética , Proteínas Proto-Oncogênicas c-ret/genética , População Branca/genética
18.
Klin Padiatr ; 230(3): 138-141, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29618138

RESUMO

BACKGROUND: Burkitt lymphoma (BL) in children often presents with abdominal localization. Intestinal perforations have been described mainly during treatment. We report on a three-year-old patient with abdominal BL who was diagnosed with a duodenocolonic fistula. CASE REPORT: A three-year-old boy presented with diarrhea, crampy abdominal pain, and a four-week history of loss of appetite and weight. Ultrasound and MRI detected a colonic tumor forming a duodenocolonic fistula which was verified by gastroduodenoscopy. A surgical biopsy revealed BL. The stage III BL with low LDH was treated with four courses of BFM-type short-pulse chemotherapy. After two courses of chemotherapy the patient developed a mechanic ileus. A segmental resection of a short segment of the colon at the right flexure carrying the residual tumor mass with cicatricial stenosis and fistula followed by colonic end to end anastomosis and covering of the fistula by omentum major were carried out without complication. 15 days after surgery, two additional courses of chemotherapy could be administrated and the boy is in ongoing remission and free of any symptoms with a follow-up interval of 18 months. CONCLUSIONS: Duodeonocolonic fistula at presentation in a child with abdominal BL is extremely rare. Delayed surgery after size of the tumor bulk has been reduced by chemotherapy might represent a risk adapted approach. However, due to limited experience with duodenocolonic fistulas even in larger pediatric lymphoma trials any decision has to be based on the problems to be faced in individual cases.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Linfoma de Burkitt/tratamento farmacológico , Linfoma de Burkitt/patologia , Colo/diagnóstico por imagem , Diarreia/etiologia , Fístula Intestinal/diagnóstico por imagem , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Biópsia , Linfoma de Burkitt/cirurgia , Pré-Escolar , Duodenoscopia , Gastroscopia , Humanos , Fístula Intestinal/etiologia , Fístula Intestinal/cirurgia , Imageamento por Ressonância Magnética , Masculino , Estadiamento de Neoplasias , Resultado do Tratamento , Ultrassonografia
19.
Medicine (Baltimore) ; 96(41): e8224, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29019891

RESUMO

INTRODUCTION: Fingertip amputation injuries are common in all ages. Conservatively treated fingertips can regenerate skin and soft tissues to form a functionally and cosmetically excellent new fingertip. Little is known about this ability that, in humans, is confined to the fingertips. Even less is known about the role of the bacteria that regularly colonize these wounds without negative impact on regeneration and healing.As an alternative to surgery, self-adhesive film dressings are commonly used to establish a wet chamber around the injury. These dressings leak malodorous wound fluid eventually until the wound is dry. Having that into consideration, we have therefore developed a silicone finger cap that forms a mechanically protected, wet chamber around the injury for optimal regeneration conditions. It contains a puncturable reservoir for excess wound fluid, which can be thus routinely analyzed for diagnostic and research purposes.This study protocol explains the first randomized controlled trial (RCT) on the semiocclusive treatment of fingertip amputations in both children and adults comparing traditional film dressings with the novel silicone finger cap. Being the first RCT using 2 medical devices not yet certified for this indication, it will gather valuable information for the understanding of fingertip regeneration and the design of future definitive studies. METHODS AND ANALYSIS: By employing an innovative pseudo-cross-over-design with a dichotomous primary endpoint based on patients preference, this pilot study will gain statistically significant data with a very limited sample size. Our RCT will investigate acceptance, safety, effectiveness, and efficacy of this novel medical device while gathering information on the clinical course and outcome of conservatively treated fingertip injuries. A total of 22 patients older than 2 years will be randomly assigned to start the conservative treatment with either the traditional film-dressing or the novel finger cap. The treatment will be changed to the other alternative for another 2 weeks before the patient or the guardian is confronted with the decision of which method they would prefer for the rest of the treatment (if required). ETHICS AND DISSEMINATION: Ethical approval (EK 148042015) of the study protocol has been obtained from Institutional Review Board at the TU Dresden. The trial is registered at the European Database on Medical Devices (EUDAMED-No.: CIV-15-03-013246) and at ClinicalTrials.gov (NCT03089060).


Assuntos
Tratamento Conservador/métodos , Traumatismos dos Dedos/terapia , Equipamentos de Proteção , Lesões dos Tecidos Moles/terapia , Adulto , Amputação Traumática/complicações , Pesquisa Comparativa da Efetividade , Desenho de Equipamento , Feminino , Traumatismos dos Dedos/etiologia , Humanos , Masculino , Curativos Oclusivos , Projetos Piloto , Reepitelização/efeitos dos fármacos , Projetos de Pesquisa , Silicones/uso terapêutico , Lesões dos Tecidos Moles/etiologia , Técnicas de Fechamento de Ferimentos
20.
Rev. bras. ortop ; 51(6): 630-639, Nov.-Dec. 2016. graf
Artigo em Inglês | LILACS | ID: biblio-830022

RESUMO

ABSTRACT Foot and ankle fractures represent 12% of all pediatric fractures. Malleolar fractures are the most frequent injuries of the lower limbs. Hindfoot and midfoot fractures are rare, but inadequate treatment for these fractures may results in compartment syndrome, three-dimensional deformities, avascular necrosis and early post-traumatic arthritis, which have a significant impact on overall foot and ankle function. Therefore, the challenges in treating these injuries in children are to achieve adequate diagnosis and precise treatment, while avoiding complications. The objective of the treatment is to restore normal anatomy and the correct articular relationship between the bones in this region. Moreover, the treatment needs to be planned according to articular involvement, lower-limb alignment, ligament stability and age. This article provides a review on this topic and presents the scientific evidence for appropriate treatment of these lesions.


RESUMO As fraturas do tornozelo e do pé representam 12% de todas as fraturas pediátricas. Fraturas maleolares são as lesões mais frequentes dos membros inferiores; fraturas do retropé e mediopé são raras, mas o seu tratamento inadequado pode resultar em síndrome de compartimento, deformidades tridimensionais, necrose avascular e osteoartrose pós-traumática precoce, as quais apresentam impacto significativo na função global do tornozelo e pé. Portanto, os desafios no tratamento dessas lesões na criança são o diagnóstico adequado e tratamento preciso para se evitarem as complicações. O objetivo do tratamento é restaurar a anatomia normal e a relação articular correta entre os ossos da região. Além disso, o tratamento deve ser planejado de acordo com acometimento articular, o alinhamento dos membros inferiores, a estabilidade ligamentar e a idade. O algoritmo de tratamento dos traumas complexos do tornozelo e pé na infância é descrito. Este artigo apresenta uma revisão sobre o tema e as evidências científicas para o tratamento adequado dessas lesões.


Assuntos
Humanos , Masculino , Feminino , Criança , Articulação do Tornozelo , Calcâneo , Tálus
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