The apparent metabolisable energy and ileal amino digestibility of black soldier fly (Hermetia illucens) larvae meal for broiler chickens.

1. Two experiments were conducted to determine the apparent metabolisable energy (AME) and standardised amino acid digestibility coefficients (SIDC) of black soldier fly larvae (BSFL) for broiler chickens.2. The BSFL contained, on a g/kg dry matter basis: crude protein, 486; crude fat, 320; ash, 58.5; neutral detergent fibre, 181; calcium, 6.8 and phosphorus, 9.1.3. In Experiment 1, an AME assay was performed wherein broilers were fed two experimental diets (a maize-soy basal diet and a test diet containing 250 g/kg BSFL) for 4 d from d 18 posthatch. The AME of BSFL was calculated based on the difference between the AME values of basal and test diets. The AME and nitrogen-corrected AME were determined to be 19.1and 18.0 MJ/kg of dry matter, respectively.4. In Experiment 2, the ileal amino acid (AA) digestibility of BSFL was determined using 22-d-old broilers by the direct method and the digesta was collected on d 25. The ratios between the AA and titanium in the diet and digesta were used to calculate the apparent digestibility and then standardised using previously published endogenous losses to estimate the SIDC of AA. The SIDC of Lys, Met, Thr, Val and average SIDC of AA in our BSFL sample were 0.85, 0.90, 0.91, 0.87 and 0.84, respectively.5. The findings showed that the BSFL meal is a good source of available energy and digestible AA, and could be a potential substitute for soybean meal in broiler diets.

The tragedy of smoking, alcohol, and multiple substance use during pregnancy.

BACKGROUND: Antenatal substance use is a significant public health concern in South Africa (SA). Information on smoking, drinking and drug use during pregnancy was collected prospectively for the Safe Passage Study of the PASS (Prenatal Alcohol in Sudden infant death syndrome and Stillbirth) Network. OBJECTIVES: Data from 4 926 pregnant women in a community near Tygerberg Academic Hospital, Cape Town, were examined to determine whether associations between different substance use groups and postnatal infant outcomes at birth and 1 year were significant. METHODS: Gestational age (GA) was determined by earliest ultrasound. Maternal data were collected at enrolment or first antenatal visit. Substance use data were obtained at up to four occasions. Birthweight data were derived from medical records, and birthweight z-scores (BWZs) were specifically calculated using INTERGROWTH-21st study data. Statistical analyses were done with Statistica version 13.  Results. Women who used more substances enrolled later, were younger, and had smaller mid-upper arm circumferences (MUACs), less education and lower monthly income than women who used no substances (control group). Infants born to women who used more substances had lower GA at delivery, birthweight and BWZ than infants from the control group. At 1 year, infants born to women who used more substances had a lower weight, shorter length and smaller head circumference. Education was positively associated with all infant outcomes at birth and 1 year. MUAC was positively associated with infant BWZ, and weight and length at 1 year. Income was negatively associated with BWZ, but positively associated with all 1-year outcomes. CONCLUSION: Substance use during pregnancy affects infant outcomes at birth and 1 year of age. The addictive properties of substance use make cessation difficult, so prevention strategies should be implemented long before pregnancy. Higher maternal education, associated with better infant outcomes at birth and 1 year and acting as a countermeasure to substance use, is of paramount importance.

Evaluating the implementation of a multi-level mHealth study to improve hydroxyurea utilization in sickle cell disease.

Background: Sickle Cell Disease (SCD) is a progressive genetic disease that causes organ damage and reduces longevity. Hydroxyurea is an underutilized evidence-based medication that reduces complications and improves survival in SCD. In a multi-site clinical trial, part of the NIH-funded Sickle Cell Disease Implementation Consortium (SCDIC), we evaluate the implementation of a multi-level and multi-component mobile health (mHealth) patient and provider intervention to target the determinants and context of low hydroxyurea use. Given the complexity of the intervention and contextual variability in its implementation, we combined different behavioral and implementation theories, models, and frameworks to facilitate the evaluation of the intervention implementation. In this report, we describe engagement with stakeholders, planning of the implementation process, and final analytical plan to evaluate the implementation outcomes. Methods: During 19 meetings, a 16-member multidisciplinary SCDIC implementation team created, conceived, and implemented a project that utilized Intervention Mapping to guide designing an intervention and its evaluation plan. The process included five steps: (1) needs assessment of low hydroxyurea utilization, (2) conceptual framework development, (3) intervention design process, (4) selection of models and frameworks, and (5) designing evaluation of the intervention implementation. Results: Behavioral theories guided the needs assessment and the design of the multi-level mHealth intervention. In designing the evaluation approach, we combined two implementation frameworks to best account for the contextual complexity at the organizational, provider, and patient levels: (1) the Consolidated Framework for Implementation Research (CFIR) that details barriers and facilitators to implementing the mHealth intervention at multiple levels (users, organization, intervention characteristics, broader community), and (2) the Technology Acceptance Model (TAM), a conceptual model specific for explaining the intent to use new information technology (including mHealth). The Reach Effectiveness Adoption Implementation and Maintenance (RE-AIM) framework was used to measure the outcomes. Discussion: Our research project can serve as a case study of a potential approach to combining different models/frameworks to help organize and plan the evaluation of interventions to increase medication adherence. The description of our process may serve as a blueprint for future studies developing and testing new strategies to foster evidence-based treatments for individuals living with SCD.

Restarting plastic surgery: Drawing on the experience of the initial COVID-19 pandemic to inform the safe resumption of services.

Coronavirus disease-2019 (COVID-19) has caused an unprecedented demand on healthcare resources globally. In the light of the arrival of a novel contagious and life-threatening virus, the NHS has responded by making difficult decisions to maintain care for patients and protect staff. The response has been frequently amended following updates in the UK Government policy as scientific understanding of the virus has improved. Our Plastic Surgery practice has adapted to mitigate risk to patients by reducing face-to-face contact, downgrading emergency procedures and deferring elective surgery where possible. This has inevitably resulted in a backlog in elective surgery and outpatient appointments. An assessment of the long-term health, social and economic impact of NHS wide service reconfiguration upon patient outcomes is yet to be seen. In this paper, we review the demonstrable early effects of service changes upon our unit and compare those to national and internationally published data. We also outline some of the considerations being made as we consider strategies to resume services in the light of the ongoing COVID-19 pandemic.

Smoking and drinking habits of women in subsequent pregnancies after specific advice about the dangers of these exposures during pregnancy.

BACKGROUND: Although women are informed about the dangers of drinking and smoking during pregnancy when they book for antenatal care, it is uncertain whether this advice is accepted, or whether attempts are made to apply it in subsequent pregnancies. OBJECTIVES: To assess how pregnant women respond to the advice to refrain from smoking and drinking during pregnancy in subsequent pregnancies. METHODS: Research staff were trained to obtain accurate prospective information on smoking and drinking during pregnancy in a prospective study, using well-standardised methods. Care was taken to inform participants about the dangers of smoking and drinking during pregnancy. They were also given pamphlets on these dangers in their own language and a list of telephone numbers where they could find help to quit should they need it. This information was repeated at subsequent study visits (ranging from 1 to 3, depending on the gestational age at which they enrolled). Gestational age was determined by early ultrasound. Z-scores of birthweight for gestational age were determined according to the INTERGROWTH-21st study. Pregnancy outcomes of women who enrolled twice (n=888) or three times (n=77) in the Safe Passage Study were compared with those of women in the first enrolment (n=889). RESULTS: The proportion of drinkers did not change significantly (p=0.058) from the first to the second and third enrolments (63.8%, 59.0% and 54.6%, respectively). A similar trend was found for smokers (73.3%, 72.2% and 68.4%, respectively). Cannabis use was reported by 15.1%, 9.7% and 12.0% (p<0.005) of women, respectively, and use of methamphetamine by 10.1%, 6.6% and 12.7% (p<0.005). There was an increase in the rate of preterm births from 15.5% to 17.5% and 24.7%, respectively, but the increase was not significant. Although mean birthweight was lower in the third enrolment compared with the second, the difference was not significant. The z-score of birthweight for gestational age was significantly lower in the second enrolment compared with the first. CONCLUSIONS: Detailed information on the adverse effects of smoking and drinking during pregnancy was not effective in the population studied. Other methods to reduce or stop these toxic exposures should therefore be investigated. A short inter-pregnancy interval, as demonstrated by three enrolments in 7.5 years, is associated with preterm labour and fetal growth restriction, and is probably indicative of the role played by confounders such as poor socioeconomic conditions and drug exposure during pregnancy.

EBMT prospective observational study on allogeneic hematopoietic stem cell transplantation in T-prolymphocytic leukemia (T-PLL).

Preliminary data suggest that allogeneic stem cell transplantation (allo-SCT) may be effective in T-prolymphocytic leukemia (T-PLL). The purpose of the present observational study was to assess the outcome of allo-SCT in patients aged 65 years or younger with a centrally confirmed diagnosis of T-PLL. Patients were consecutively registered with the EBMT at the time of transplantation and followed by routine EBMT monitoring but with an extended dataset. Between 2007 and 2012, 37 evaluable patients (median age 56 years) were accrued. Pre-treatment contained alemtuzumab in 95% of patients. Sixty-two percent were in complete remission (CR) at the time of allo-SCT. Conditioning contained total body irradiation with 6 Gy or more (TBI6) in 30% of patients. With a median follow-up of 50 months, the 4-year non-relapse mortality, relapse incidence, progression-free (PFS) and overall survival were 32, 38, 30 and 42%, respectively. By univariate analysis, TBI6 in the conditioning was the only significant predictor for a low relapse risk, and an interval between diagnosis and allo-SCT of more than 12 months was associated with a lower NRM. This study confirms for the first time prospectively that allo-SCT can provide long-term disease control in a sizable albeit limited proportion of patients with T-PLL.

Adverse obstetric history is not a risk factor for poor outcome after ventral rectopexy for obstructive defaecation syndrome.

AIM: Ventral rectopexy (VR) has gained popularity in the management of obstructive defaecation syndrome (ODS) due to a symptomatic rectocele ± intussusception. Data on the efficacy and safety of VR are variable and there are few predictors of successful outcome. This study aimed to examine whether or not an adverse obstetric history influenced the functional outcome following VR for ODS. METHOD: This was a retrospective study of a cohort of 76 consecutive patients who had undergone VR for ODS at a tertiary referral centre between 2012 and 2015. Patients were followed up by telephone questionnaire. The obstetric history and pre- and postoperative symptoms of ODS and faecal incontinence (FI) were obtained from telephone interviews. RESULTS: In this cohort, symptoms of ODS were significantly improved by surgery, with 56% of patients showing a reduction of symptoms of 50% or more (P < 0.001). Subgroup analysis demonstrated that a lower body mass index (BMI; 24.4 vs 27.3 kg/m2 ; P < 0.05) and shorter duration of symptoms (7 vs 10 years; P < 0.05) led to a better outcome. VR had no effect on FI. Obstetric factors such as foetal weight, instrumental delivery, episiotomy, perineal tear and total number of deliveries did not influence outcomes. CONCLUSION: Patients with a less straightforward obstetric history can be reassured that this should not adversely influence the functional outcome after VR for ODS. Colorectal surgeons who offer this surgery should warn patients with an elevated BMI or with longstanding symptoms that the operation may be less successful than for those with a lower BMI or shorter duration of symptoms.

Motivation and attitudes toward changing health (MATCH): A new patient-reported measure to inform clinical conversations.

OBJECTIVE: To identify and assess patient motivation to initiate or maintain behavior changes. METHODS: Attitudinal statements were developed from structured patient interviews and translated into 18 survey items. Items were analyzed with exploratory factor analysis (EFA). RESULTS: An EFA with 340 type 2 diabetes patients identified three areas of patient attitudes toward changing health behaviors: (1) willingness to make changes (3 items; α = 0.69), (2) perceived ability to make or maintain changes (3 items; α = 0.74), and (3) and feeling changes are worthwhile (3 items; α = 0.61). Greater perceived ability and feelings of worthwhileness were associated with positive psychosocial and behavioral management indicators. All three areas were associated with confidence and attitudes toward making a specific behavioral change (e.g., improve diet). CONCLUSIONS: MATCH is an internally consistent and valid 9-item scale that provides a profile of factors influencing motivation that can be used in clinical and research settings.

Molecular detection of Bartonella coopersplainsensis and B. henselae in rats from New Zealand.

AIM To identify Bartonella spp. in rats from New Zealand using molecular methods. METHODS DNA was extracted from the spleens of 143 black rats (Rattus rattus) captured in the Tongariro National Park, New Zealand. PCR was performed using Bartonella genus-specific primers amplifying segments of the 16S-23S rRNA internal transcribed spacer and citrate synthase (gltA) and beta subunit of the RNA polymerase (rpoB) genes. PCR products were sequenced and compared online with sequences stored in the database of the National Center for Biotechnology Information of the United States of America. RESULTS DNA sequences matching Bartonella coopersplainsensis and B. henselae were detected in samples from 22/143 (15.4%) and 3/143 (2.1%) rats, respectively. Co-occurrence of B. coopersplainsensis and B. henselae sequences was observed in the sample from one rat. CONCLUSIONS AND CLINICAL RELEVANCE Gram-negative fastidious bacteria belonging to the genus Bartonella are associated with a range of human diseases. Rodents play an important role as reservoirs of a broad range of Bartonella species. To our knowledge, this is the first report of a molecular detection of Bartonella spp. DNA in rodents from New Zealand, and the first identification of B. henselae DNA in rats, worldwide. Whereas the public health significance of B. coopersplainsensis remains undefined, B. henselae is the agent of cat scratch disease, and the presence of this bacterium in rats may have public health implications. Our results are preliminary and additional analyses of larger samples, preferably by bacterial culture, would provide more information on the prevalence and diversity of Bartonella spp., in particular B. henselae, in rats.

A 5-year follow-up study of 633 cutaneous SCC excisions: Rates of local recurrence and lymph node metastasis.

BACKGROUND: A 5-year follow-up study of 633 cutaneous squamous cell cancer (SCC) excisions was performed by collecting data on rates of local recurrence (LR) and lymph node (LN) metastasis. METHODS: A retrospective analysis of patients was performed across four regional plastic surgery centres (Stoke Mandeville Hospital, Aylesbury; John Radcliffe Hospital, Oxford; Salisbury District Hospital, Salisbury and Queen Alexandra Hospital, Portsmouth) assessing rates of LR and LN metastasis. RESULTS: We report 5-year outcomes from 598 SCCs (95% follow-up rate). The total recurrence rate (LR and LN metastasis) was 6.7% (n = 40) at 5 years, with 96% of these occurring within 2 years. Median time to LR was 9 months (1-57), with 76.9% (n = 20) undergoing further wide local excision. Median time to LN metastasis was 5.5 months (1-18 months). There were two cases of disease-related death. Only 15% (n = 6) of incomplete excisions recurred. Interestingly, 19.1% (n = 9) of 47 SCCs with perineural invasion on original histopathology recurred versus only 5.6% (n = 31) of the 551 SCCs without perineural invasion (p = 0.005). CONCLUSIONS: This study is one of the largest studies to date following up 598 SCC excisions at 5 years with total recurrence rates comparable to those in current published literature. We report perineural invasion as a significant predictor of recurrence and that 96% of total recurrence occurred within 2 years. This is in contrast to current UK guidelines (75% at 2 years, 95% at 5 years), thus suggesting that shorter length of hospital follow-up may be reasonable.

A practical framework for encouraging and supporting positive behaviour change in diabetes.

A wide range of diabetes-directed interventions - including novel medications, devices and comprehensive education programmes - have been shown to be effective in clinical trials. But in the real world of diabetes care their efficacy is often dependent upon on how well a clinician is able to support personal engagement and motivation of the person with diabetes to use these new tools and knowledge consistently, and as directed. Although many person-centred motivational and behavioural strategies have been developed, for example, action planning, motivational interviewing and empowerment-based communication, the sheer number and apparent lack of clear differences among them have led to considerable confusion. The primary goal of this review, therefore, is to provide a practical framework that organizes and structures these programmes to enhance their more systematic use in clinical care. Its purpose is to enhance clinician efforts to respectfully encourage and support engagement and motivation for behaviour change in people with diabetes. The three-step framework for organizing and describing the specific clinical processes involved is based on self-determination theory and includes: clinician preparation for a different type of clinical encounter, clinician/person with diabetes relationship building, and clinician utilization of specific behavioural tools. We conclude with practical considerations for application of this framework to the real world of clinical care.

Allogeneic stem cell transplantation for refractory acute myeloid leukemia in pediatric patients: the UK experience.

We report outcomes for 44 children who underwent stem cell transplantation (SCT) for refractory AML in the UK between 2000 and 2012. Median age at SCT was 11.5 years. Twenty-three patients had primary refractory and 21 relapsed refractory AML. Refractory disease was confirmed by cytogenetics/molecular genetics in 24 cases. Median follow-up of the whole cohort is 6.8 years (2.1-14.9 years). Thirty patients (68%) achieved a CR following SCT. Transplant-related mortality at 1 year was 18%. Acute GVHD incidence was 52% (grade ⩾III 19%), chronic 7%. Relapse was the major cause of treatment failure and occurred in 32% of patients at a median of 61 days post SCT. Five-year overall survival and leukemia-free survival (LFS) were 43% (95% CI 31-61%). All patients with favorable cytogenetics (n=6) are alive in CR. Outcomes in patients with primary refractory disease were equivalent to those with relapsed refractory AML. Blast percentage ⩽30% in the BM pre-SCT, myeloablative conditioning and acute GVHD proved to be favorable prognostic features. We could stratify patients according to age ⩾10 years and >30% blasts in BM pre-SCT. Patients with none/one of these risk factors were highly salvageable (5 years LFS 53%) whereas those with both factors had a very poor prognosis (5 years LFS 10%). This may facilitate decision making on whether it is appropriate to consider transplant in such patients.

Recipient/donor HLA and CMV matching in recipients of T-cell-depleted unrelated donor haematopoietic cell transplants.

Improving haematopoietic cell transplantation outcomes by selection of an HLA-matched unrelated donor is best practice; however, donor selection by secondary characteristics is controversial. We studied 1271 recipients with haematological malignancies who underwent T-cell-depleted allografts and had complete data on HLA-matching status for six loci (HLA-A, -B, -C, -DRB1, -DQB1, -DPB1) and clinical outcome data. Five-year overall survival was 40.6%. HLA mismatching (at HLA-A, -B, -C, -DRB1, -DQB1) relative risk (RR) 1.22, 95% confidence interval (CI) 1.2-1.5, P=0.033 for 1 mismatch and RR 1.46, 95% CI 1.1-1.9, P=0.009 for >1 mismatch) and CMV mismatching (RR 1.37, 95% CI 1.2-1.6, P<0.001) were significantly associated with inferior survival. Donors aged <30 years showed a trend towards better survival. The multivariate model for mortality, combining CMV and HLA-match status, found an RR of 1.36 (95% CI 1.1-1.7, P=0.003) for HLA matched/CMV mismatched, an RR of 1.22 (95% CI 0.99-1.5, P=0.062) for HLA mismatched/CMV matched and an RR of 1.81 (95% CI 1.4-2.3, P=<0.001) for HLA/ CMV mismatched, compared with the HLA/CMV-matched recipients. These data suggest that HLA and CMV matching status should be considered when selecting unrelated donors and that CMV matching may abrogate the effect of an HLA mismatch.

Long-term survival of patients with CLL after allogeneic transplantation: a report from the European Society for Blood and Marrow Transplantation.

Even with the availability of targeted drugs, allogeneic hematopoietic cell transplantation (allo-HCT) is the only therapy with curative potential for patients with CLL. Cure can be assessed by comparing long-term survival of patients to the matched general population. Using data from 2589 patients who received allo-HCT between 2000 and 2010, we used landmark analyses and methods from relative survival analysis to calculate excess mortality compared with an age-, sex- and calendar year-matched general population. Estimated event-free survival, overall survival and non-relapse mortality (NRM) 10 years after allo-HCT were 28% (95% confidence interval (CI), 25-31), 35% (95% CI, 32-38) and 40% (95% CI, 37-42), respectively. Patients who passed the 5-year landmark event-free survival (N=394) had a 79% probability (95% CI, 73-85) of surviving the subsequent 5 years without an event. Relapse and NRM contributed equally to treatment failure. Five-year mortality for 45- and 65-year-old reference patients who were event-free at the 5-year landmark was 8% and 47% compared with 3% and 14% in the matched general population, respectively. The prospect of long-term disease-free survival remains an argument to consider allo-HCT for young patients with high-risk CLL, and programs to understand and prevent late causes of failure for long-term survivors are warranted, especially for older patients.

Galactorrhoea of the neck following pectoralis major reconstruction of a pharyngeal defect.

We describe a case of postoperative galactorrhea following the use of a pedicled pectoralis major myocutaneous flap for reconstruction of a pharyngolaryngeal defect in a woman with squamous cell carcinoma. We believe this to be unique in the literature, and an important complication to be reported, due to the similarities in appearance of galactorrhoea and postoperative aerodigestive tract/cutaneous fistula.

Myeloablative versus reduced intensity allogeneic stem cell transplantation for relapsed/refractory Hodgkin's lymphoma in recent years: a retrospective analysis of the Lymphoma Working Party of the European Group for Blood and Marrow Transplantation.

BACKGROUND: To evaluate long-term outcome of myeloablative allogeneic stem cell transplantation (allo-SCT) (MAC) versus reduced-intensity allo-SCT (RIC) in patients with relapsed/refractory Hodgkin's lymphoma (HL) in recent years. PATIENTS AND METHODS: A total of 312 patients (63 MAC and 249 RIC) with relapsed/refractory HL who received allo-SCT between 2006 and 2010 and were reported to the EBMT Database were included in the study. RESULTS: With a median follow-up for alive patients of 56 (26-73) months, there were no significant differences in non-relapse mortality (NRM) between MAC and RIC. Relapse rate (RR) was somewhat lower in the MAC group (41% versus 52% at 24 months, P = 0.16). This lower RR translated into a marginal improvement in event-free survival (EFS) for the MAC group (48% versus 36% at 24 months, P = 0.09) with no significant differences in overall survival (73% for MAC and 62% for RIC at 24 months, P = 0.13). Multivariate analysis after adjusting for disease status at the time of allo-SCT showed that the use of MAC was of borderline statistical significance for predicting a lower RR and EFS [HR 0.7, 95% CI (0.5-1.0), P = 0.1] and [HR 0.7, 95% CI (0.5-1.0), P = 0.07], respectively, after allo-SCT. CONCLUSIONS: With modern transplant practices, the NRM associated with MAC for HL has strongly decreased, resulting into non-significant improvement of EFS because of a somewhat better disease control compared with RIC transplants. The intensity of conditioning regimens should be considered when designing individual allo-SCT strategies or clinical trials in patients with relapsed/refractory HL.

Allogeneic hematopoietic cell transplantation for multiple myeloma in Europe: trends and outcomes over 25 years. A study by the EBMT Chronic Malignancies Working Party.

We describe the use and outcomes of allogeneic hematopoietic stem cell transplantation (allo-HSCT) for multiple myeloma (MM) in Europe between January 1990 and December 2012. We identified 7333 patients, median age at allo-HSCT was 51 years (range: 18-78), of whom 4539 (62%) were males. We distinguished three groups: (1) allo-HSCT upfront (n=1924), (2) tandem auto-allo-HSCT (n=2004) and (3) allo-HSCT as a second line treatment and beyond (n=3405). Overall, there is a steady increase in numbers of allo-HSCT over the years. Upfront allo-HSCT use increased up to year 2000, followed by a decrease thereafter and represented 12% of allo-HSCTs performed in 2012. Tandem auto-allo-HSCT peaked around year 2004 and contributed to 19% of allo-HSCTs in 2012. Allo-HSCT as salvage after one or two or three autografts was steadily increasing over the last years and represented 69% of allo-HSCTs in 2012. Remarkable heterogeneity in using allo-HSCT was observed among the different European countries. The 5-year survival probabilities from time of allo-HSCT for the three groups after year 2004 were 42%, 54% and 32%, respectively. These results show that the use of allo-HSCT is increasing in Europe, especially as second line treatment and beyond. There is an unmet need for well-designed prospective studies investigating allo-HSCT as salvage therapy for MM.

[Loeys-Dietz syndrome (TGFßR2 mutation) in a 4-year-old child with thoracic aortic aneurysm]. / Syndrome de Loeys-Dietz (mutation TGFßR2) chez une enfant de 4ans avec anévrysme de l'aorte thoracique.

Loeys-Dietz syndrome is a rare form of connective tissue disorder, whose clinical features can resemble those of Marfan syndrome, but with a more unpolished appearance. Recently brought out, this pathology remains little known; however, its consequences may be dramatic. We report on the case of a 4-year-old girl followed for a congenital hip dislocation, in which a systematic exam found increased cutaneous elasticity and a bifid uvula, suggesting a connective tissue disorder. Symptoms were unpolished, as the child's height was normal, without any positive cardiac, rheumatological, or ophthalmological family history. Cardiovascular tests found a thoracic aortic aneurysm at the Valsalva sinus (26mm, Z-score=+4.24). A genetic investigation found a TGFßR2 gene mutation, leading to the diagnosis of Loeys-Dietz syndrome type 2. Skeletal damage associated with bifid uvula and/or hypertelorism and an aneurysm of the ascending aorta should guide the genetic investigation to the search for TGF-ß vasculopathy such as Loeys-Dietz syndrome.