Summary Background Vitamin A deficiency is a risk factor for blindness and for mortality from measles and diarrhoea in children aged 6–59 months. We aimed to estimate trends in the prevalence of ...vitamin A deficiency between 1991 and 2013 and its mortality burden in low-income and middle-income countries. Methods We collated 134 population-representative data sources from 83 countries with measured serum retinol concentration data. We used a Bayesian hierarchical model to estimate the prevalence of vitamin A deficiency, defined as a serum retinol concentration lower than 0·70 μmol/L. We estimated the relative risks (RRs) for the effects of vitamin A deficiency on mortality from measles and diarrhoea by pooling effect sizes from randomised trials of vitamin A supplementation. We used information about prevalences of deficiency, RRs, and number of cause-specific child deaths to estimate deaths attributable to vitamin A deficiency. All analyses included a systematic quantification of uncertainty. Findings In 1991, 39% (95% credible interval 27–52) of children aged 6–59 months in low-income and middle-income countries were vitamin A deficient. In 2013, the prevalence of deficiency was 29% (17–42; posterior probability PP of being a true decline=0·81). Vitamin A deficiency significantly declined in east and southeast Asia and Oceania from 42% (19–70) to 6% (1–16; PP>0·99); a decline in Latin America and the Caribbean from 21% (11–33) to 11% (4–23; PP=0·89) also occurred. In 2013, the prevalence of deficiency was highest in sub-Saharan Africa (48%; 25–75) and south Asia (44%; 13–79). 94 500 (54 200–146 800) deaths from diarrhoea and 11 200 (4300–20 500) deaths from measles were attributable to vitamin A deficiency in 2013, which accounted for 1·7% (1·0–2·6) of all deaths in children younger than 5 years in low-income and middle-income countries. More than 95% of these deaths occurred in sub-Saharan Africa and south Asia. Interpretation Vitamin A deficiency remains prevalent in south Asia and sub-Saharan Africa. Deaths attributable to this deficiency have decreased over time worldwide, and have been almost eliminated in regions other than south Asia and sub-Saharan Africa. This new evidence for both prevalence and absolute burden of vitamin A deficiency should be used to reconsider, and possibly revise, the list of priority countries for high-dose vitamin A supplementation such that a country's priority status takes into account both the prevalence of deficiency and the expected mortality benefits of supplementation. Fundin Bill & Melinda Gates Foundation, Grand Challenges Canada, UK Medical Research Council.
The field of dysmorphology has been changed by the use Artificial Intelligence (AI) and the development of Next Generation Phenotyping (NGP). The aim of this study was to propose a new NGP model for ...predicting KS (Kabuki Syndrome) on 2D facial photographs and distinguish KS1 (KS type 1, KMT2D-related) from KS2 (KS type 2, KDM6A-related). We included retrospectively and prospectively, from 1998 to 2023, all frontal and lateral pictures of patients with a molecular confirmation of KS. After automatic preprocessing, we extracted geometric and textural features. After incorporation of age, gender, and ethnicity, we used XGboost (eXtreme Gradient Boosting), a supervised machine learning classifier. The model was tested on an independent validation set. Finally, we compared the performances of our model with DeepGestalt (Face2Gene). The study included 1448 frontal and lateral facial photographs from 6 centers, corresponding to 634 patients (527 controls, 107 KS); 82 (78%) of KS patients had a variation in the KMT2D gene (KS1) and 23 (22%) in the KDM6A gene (KS2). We were able to distinguish KS from controls in the independent validation group with an accuracy of 95.8% (78.9-99.9%, p < 0.001) and distinguish KS1 from KS2 with an empirical Area Under the Curve (AUC) of 0.805 (0.729-0.880, p < 0.001). We report an automatic detection model for KS with high performances (AUC 0.993 and accuracy 95.8%). We were able to distinguish patients with KS1 from KS2, with an AUC of 0.805. These results outperform the current commercial AI-based solutions and expert clinicians.
Children with congenital disorders are unfortunate collateral victims of wars and natural disasters. Improved diagnosis could help organize targeted medical support campaigns. Patient identification ...is a key issue in the management of life-threatening conditions in extreme situations, such as in oncology or for diabetes, and can be challenging when diagnosis requires biological or radiological investigations. Dysmorphology is a central element of diagnosis for craniofacial malformations, with high sensibility and specificity. Massive amounts of public data, including facial pictures circulate daily on news channels and social media, offering unique possibilities for automatic diagnosis based on facial recognition. Furthermore, AI-based algorithms assessing facial features are currently being developed to decrease diagnostic delays. Here, as a case study, we used a facial recognition algorithm trained on a large photographic database to assess an online picture of a family of refugees. Our aim was to evaluate the relevance of using an academic tool on a journalistic picture and discuss its potential application to large-scale screening in humanitarian perspectives. This group picture featured one child with signs of Apert syndrome, a rare condition with risks of severe complications in cases of delayed management. We report the successful automatic screening of Apert syndrome on this low-resolution picture, suggesting that AI-based facial recognition could be used on public data in crisis conditions to localize at-risk patients.
Newborns with congenital hypogonadotropic hypogonadism (CHH) have an impaired postnatal activation of the gonadotropic axis. Substitutive therapy with recombinant gonadotropins can be proposed to ...mimic physiological male mini-puberty during the first months of life. The aim of this study was to compare the clinical and biological efficacy of two treatment modalities of gonadotropins administration during mini-puberty in CHH neonates.
Multicenter retrospective analytical epidemiological study comparing two treatments, pump vs injection, between 2004 and 2019.
Clinical (penile size, testis size, testicular descent) and biological parameters (serum concentrations of testosterone, anti-Müllerian hormone (AMH) and Inhibin B) were compared between the two groups by multivariate analyses.
Thirty-five patients were included. A significantly higher increase in penile length and testosterone level was observed in the injection group compared to the pump group (+0.16 ± 0.02 mm vs +0.10 ± 0.02 mm per day, P = 0.002; and +0.04 ± 0.007 ng/mL vs +0.01 ± 0.008 ng/mL per day, P = 0.001). In both groups, significant increases in penile length and width, testosterone, AMH, and Inhibin B levels were observed, as well as improved testicular descent (odds ratio of not being in a scrotal position at the end of treatment = 0.97 (0.96; 0.99)).
Early postnatal administration of recombinant gonadotropins in CHH boys is effective in stimulating penile growth, Sertoli cell proliferation, and testicular descent, with both treatment modalities.
We report an autochthonous case of oral dirofilariasis in a 46-year-old female patient exposed in South-Eastern France. The patient first presented eyelid creeping dermatitis of one-week duration, ...then a sub-mucosal nodule appeared in the cheek. The entire nodule was removed surgically. Histologically, the nodule appeared as inflammatory tissue in which a worm was seen. The molecular analysis, based on cox1 and 12S sequences, identified Dirofilaria repens. Ivermectin treatment was given prior to diagnosis, while taking into consideration the most common causes of creeping dermatitis, but treatment was ineffective. The oral form of dirofilariasis is uncommon and could lead to diagnostic wandering.
Faciocraniosynostoses (FCS) are malformations affecting the development of the bones of the skull and face, due to the premature closure of one or more craniofacial sutures, mostly secondary to ...activating Fibroblast Growth Factor Receptor (FGFR) 1–3 mutations. Gain-of-function FGFR3 mutations are also responsible for various conditions referred to as osteochondrodysplasia (OCD), characterized by structural and functional abnormalities of growth plate cartilages. We hypothesized that patients with FGFR-related faciocraniosynostoses may present extra-cranial growth anomalies.
We retrospectively collected height and weight data from a cohort of 70 patients. Included patients were admitted for FGFR-related FCS between 2000 and 2021 at the Craniofacial Unit of Necker – Enfants Malades University Hospital in Paris, France.
We showed that FGFR-related faciocraniosynostoses had significantly reduced heights and weights relative to controls, and that two specific time periods (1–3 years and > 8 years of age) were associated with lower height and weight values. Four patients had received growth hormone treatment but remained below normal values for growth in height and weight.
Patients with FGFR-related faciocraniosynostoses have clinically significant extra-cranial anomalies which are not currently investigated and managed in usual protocols; these patients could benefit from a systematic pre-pubertal endocrine assessment. More generally, our results extend the scope of extracranial anomalies in FGFR-related faciocraniosynostoses and support the hypothesis that all conditions with activating FGFR mutations affect both membranous ossification and long bones.
•FGFR mutations can cause syndromic faciocraniosynostoses (FCS) and are also responsible for osteochondrodysplasia.•Patients with FCS present with significant delays in development compared to the standard French population.•Patients with FCS could benefit from a systematic pre-pubertal endocrine assessment and hormonotherapy but more data is required to establish guidelines.•FCS and achondroplasia both affect membranous and endochondral ossification processes.
The Iraq–Iran war (1980–88) resulted in numerous maxillofacial injuries. More than 400,000 people were wounded and required specialist care. Paul Tessier, a leading French plastic surgeon and ...pioneering craniofacial surgeon, was involved in several missions to Iran and operated on a vast cohort of patients with complex war trauma sequelae.
Our study included 322 files relating to patients with war injuries operated on by Paul Tessier in Iran from 1990 to 1993. The files were the property of the Association Française des Chirurgiens de la Face. Relevant epidemiological parameters and data on surgical indications and procedures were collected. Descriptive statistics were used in order to characterize the cohort, and a multivariate logistic model was developed in order to assess factors associated with severe eye injuries within all facial injuries.
Age range at admission was 5–67 years (average: 27.15 ± 6.97). The most common trauma mechanisms were shell fragments (161 patients; 50 %) and bullets (27 patients; 8.38 %). The bone and orbital contents in the upper third of the face were affected in 124 patients (38.50%); 72 patients (22.36%) had trauma of the middle third of the face; and 86 patients (26.71%) had trauma of the lower third. A total of 175 bone grafts were harvested by Tessier: 72 (41.14%) iliac grafts and 94 (53.71%) frontal and/or parietal grafts. Tessier managed 60 orbital fractures (18.63%) and 95 patients with uni- or bilateral enucleations (29.50%). A multivariate logistic model showed that patients injured by shells were 4.04 (1.32; 17.60) more likely (p = 0.03) than patients with gunshot wounds to have had uni- or bilateral enucleation, regardless of age and gender.
Tessier's files provide first-hand information on the injury patterns that resulted from a regional war in the 1980s, and on the reconstruction challenges faced by a country during its post-war recovery period.
Background
Reconstruction of the head and neck is dominated by free flaps, and for bone reconstruction by fibula and scapula flaps. However, this choice is sometimes difficult to make in patients who ...cannot tolerate an extensive and lengthy surgical procedure. In addition, vascular micro-anastomoses are sometimes complicated in patients who have been previously irradiated. Pedicle flaps remain an option and can sometimes be considered as first choice for head and neck reconstruction.
Purpose
In this study, we describe the feasibility of a split temporal muscle pedicled flap with coronal harvesting for a reconstruction that can reach the midline.
Study design, sample, covariates
Ten fresh-frozen human cadaver heads were dissected, and the length of the split flap was noted, followed by the length of the non-split flap.
Results
The mean length was 155.7 mm (± 20.0) for the split flap, from the point of rotation to the tip of the coronoid process. These results coincide with the tragus-midline distance, which makes it possible to consider reconstruction of the midline, especially the maxilla and the mandible, which has not yet been described in the literature.
Conclusions and relevance
This technique would then allow a supply of pedicled vascularized bone for loco-regional reconstruction.
Introduction
Mandibulo-Facial Dysostosis with Microcephaly (MFDM) is a rare disease with a broad spectrum of symptoms, characterized by zygomatic and mandibular hypoplasia, microcephaly, and ear ...abnormalities. Here, we aimed at describing the external ear phenotype of MFDM patients, and train an Artificial Intelligence (AI)-based model to differentiate MFDM ears from non-syndromic control ears (binary classification), and from ears of the main differential diagnoses of this condition (multi-class classification): Treacher Collins (TC), Nager (NAFD) and CHARGE syndromes.
Methods
The training set contained 1,592 ear photographs, corresponding to 550 patients. We extracted 48 patients completely independent of the training set, with only one photograph per ear per patient. After a CNN-(Convolutional Neural Network) based ear detection, the images were automatically landmarked. Generalized Procrustes Analysis was then performed, along with a dimension reduction using PCA (Principal Component Analysis). The principal components were used as inputs in an eXtreme Gradient Boosting (XGBoost) model, optimized using a 5-fold cross-validation. Finally, the model was tested on an independent validation set.
Results
We trained the model on 1,592 ear photographs, corresponding to 1,296 control ears, 105 MFDM, 33 NAFD, 70 TC and 88 CHARGE syndrome ears. The model detected MFDM with an accuracy of 0.969 0.838–0.999 (
p
< 0.001) and an AUC (Area Under the Curve) of 0.975 within controls (binary classification). Balanced accuracies were 0.811 0.648–0.920 (
p
= 0.002) in a first multiclass design (MFDM vs. controls and differential diagnoses) and 0.813 0.544–0.960 (
p
= 0.003) in a second multiclass design (MFDM vs. differential diagnoses).
Conclusion
This is the first AI-based syndrome detection model in dysmorphology based on the external ear, opening promising clinical applications both for local care and referral, and for expert centers.
Primary mandibular reconstruction after tumor removal or osteoradionecrosis treatment is a standard procedure. The most common reconstruction techniques are fibula, scapula, and iliac crest free ...flaps. Nevertheless, all patients are not eligible for microsurgery.
In this study, we assess 12 years of mandibular reconstruction using an osteo-muscular dorsal scapular pedicled flap (OMDS). We included 40 patients operated on using an OMDS flap. We collected parameters such as length of hospital stay, recurrence risk, and need for secondary flap for oral cutaneous fistula (OCF) treatment. Flap bone volume was assessed by segmenting the scapula on postoperative CT-scans using dedicated software.
Forty patients were included. Indications for OMDS flaps were severe cardiovascular history (27%), preoperative radiotherapy with a radiation neck and potentially unreliable blood vessel sutures (20%), previous fibula free flap failure (15%), and patient refusing free tissue transfer (8%). Aside from these medical indications, OMDS flaps were performed in 30% of cases due to organizational concerns. The mean flap length was 73±16 mm, with a maximum of 109 mm. Flap bone volume was stable over time, with negligible resorption (p = 0.761). Secondary pedicled flaps were used to treat OCF in 5 patients (12%). Secondary esthetic procedures were performed in 9 patients (22%). None of the 40 flaps were removed. None of the patients had long-term scarring complications in donor sites.
OMDS flaps merit consideration for mandibular reconstruction when free tissue transfer is contraindicated or impossible due to organizational issues.
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