Very long wave infrared quantum dot photodetector up to 18 µm.

Colloidal quantum dots (CQDs) are of interest for optoelectronic devices because of the possibility of high-throughput solution processing and the wide energy gap tunability from ultraviolet to infrared wavelengths. People may question about the upper limit on the CQD wavelength region. To date, although the CQD absorption already reaches terahertz, the practical photodetection wavelength is limited within mid-wave infrared. To figure out challenges on CQD photoresponse in longer wavelength, would reveal the ultimate property on these nanomaterials. What's more, it motivates interest in bottom-up infrared photodetection with less than 10% cost compared with epitaxial growth semiconductor bulk. In this work, developing a re-growth method and ionic doping modification, we demonstrate photodetection up to 18 µm wavelength on HgTe CQD. At liquid nitrogen temperature, the responsivity reaches 0.3 A/W and 0.13 A/W, with specific detectivity 6.6 × 108 Jones and 2.3 × 109 Jones for 18 µm and 10 µm CQD photoconductors, respectively. This work is a step toward answering the general question on the CQD photodetection wavelength limitation.

Alterations in degree centrality and functional connectivity in tension-type headache: a resting-state fMRI study.

Previous studies have provided evidence of structural and functional changes in the brains of patients with tension-type headache (TTH). However, investigations of functional connectivity alterations in TTH have been inconclusive. The present study aimed to investigate abnormal intrinsic functional connectivity patterns in patients with TTH through the voxel-wise degree centrality (DC) method as well as functional connectivity (FC) analysis. A total of 33 patients with TTH and 30 healthy controls (HCs) underwent resting-state functional magnetic resonance imaging (rs-fMRI) scanning and were enrolled in the final study. The voxel-wise DC method was performed to quantify abnormalities in the local functional connectivity hubs. Nodes with abnormal DC were used as seeds for further FC analysis to evaluate alterations in functional connectivity patterns. In addition, correlational analyses were performed between abnormal DC and FC values and clinical features. Compared with HCs, patients with TTH had higher DC values in the left middle temporal gyrus (MTG.L) and lower DC values in the left anterior cingulate and paracingulate gyri (ACG.L) (GRF, voxel-wise p < 0.05, cluster-wise p < 0.05, two-tailed). Seed-based FC analyses revealed that patients with TTH showed greater connections between ACG.L and the right cerebellum lobule IX (CR-IX.R), and smaller connections between ACG.L and ACG.L. The MTG.L showed increased FC with the ACG.L, and decreased FC with the right caudate nucleus (CAU.R) and left precuneus (PCUN.L) (GRF, voxel-wise p < 0.05, cluster-wise p < 0.05, two-tailed). Additionally, the DC value of the MTG.L was negatively correlated with the DASS-depression score (p = 0.046, r=-0.350). This preliminary study provides important insights into the pathophysiological mechanisms of TTH.

Unveiling the molecular regulatory mechanisms underlying sucrose accumulation and oil reduction in peanut kernels through genetic mapping and transcriptome analysis.

Sucrose content is a key factor for the flavor of edible peanut, which determines the sweet taste of fresh peanut and also attribute to pleasant flavor of roasted peanut. To explore the genetic mechanism of the sucrose content in peanut, an F2 population was created by crossing the sweet cultivar Zhonghuatian 1 (ZHT1) with Nanyangbaipi (NYBP). A genomic region spanning 28.26 kb on chromosome A06 was identified for the sucrose content through genetic mapping, elucidating 47.5% phenotypic variance explained. As the sucrose content had a significantly negative correlation with the oil content, this region was also found to be related to the oil content explaining 37.2% of phenotype variation. In this region, Arahy.42CAD1 was characterized as the most likely candidate gene through a comprehensive analysis. The nuclear localization of Arahy.42CAD1 suggests its potential involvement in the regulation of gene expression for sucrose and oil contents in peanut. Transcriptome analysis of the developing seeds in both parents revealed that genes involved in glycolysis and triacylglycerol biosynthesis pathways were not significantly down-regulated in ZHT1, indicating that the sucrose accumulation was not attributed to the suppression of triacylglycerol biosynthesis. Based on the WGCNA analysis, Arahy.42CAD1 was co-expressed with the genes involved in vesicle transport and oil body assembly, suggesting that the sucrose accumulation may be caused by disruptions in TAG transportation or storage mechanisms. These findings offer new insights into the molecular mechanisms governing sucrose accumulation in peanut, and also provide a potential gene target for enhancing peanut flavor.

Identification of QTLs associated with very-long chain fatty acid (VLCFA) content via linkage mapping and BSA-seq in peanut.

KEY MESSAGE: Three major QTLs qA01, qB04.1 and qB05 for VLCFA content and their corresponding allele-specific markers will benefit peanut low VLCFA breeding, and a candidate gene Arahy.IF1JV3 was predicted. Peanut is a globally significant oilseed crop worldwide, and contains a high content (20%) of saturated fatty acid (SFA) in its seeds. As high level SFA intake in human dietary may increase the cardiovascular disease risk, reducing the SFA content in peanut is crucial for improving its nutritional quality. Half of the SFAs in peanut are very long-chain fatty acids (VLCFA), so reducing the VLCFA content is a feasible strategy to decrease the total SFA content. Luoaowan with extremely low VLCFA (4.80%) was crossed with Jihua16 (8.00%) to construct an F2:4 population. Three major QTLs including qA01, qB04.1 and qB05 for VLCFA content were detected with 4.43 ~ 14.32% phenotypic variation explained through linkage mapping. Meanwhile, three genomic regions on chromosomes B03, B04 and B05 were identified via BSA-seq approach. Two co-localized intervals on chromosomes B04 (100.10 ~ 103.97 Mb) and B05 (6.39 ~ 10.90 Mb) were identified. With markers developed based on SNP/InDel variations in qA01 between the two parents, the remaining interval was refined to 103.58 ~ 111.14 Mb. A candidate gene Arahy.IF1JV3 encoding a ß-ketoacyl-CoA synthase was found in qA01, and its expression level in Luoaowan was significantly lower than that in Jihua16. Allele-specific markers targeting qA01, qB04.1 and qB05 were developed and validated in F4 population, and an elite line with high oleic, low VLCFA (5.05%) and low SFA (11.48%) contents was selected. This study initially revealed the genetic mechanism of VLCFA content, built a marker-assisted selection system for low VLCFA breeding, and provided an effective method to decrease the SFA content in peanut.

Radial and ulnar forearm free flaps: A critical comparison of donor site morbidity and its impact on quality of life.

BACKGROUND: A poor evidence basis exists regarding direct comparing objective and subjective donor site morbidity associated with forearm flap. The authors evaluated the postoperative donor-site complications and quality of life outcomes between radial forearm free flap (RFFF) and ulnar forearm free flap (UFFF). METHODS: All patients undergoing RFFF or UFFF harvest were included. Grip strength, pinch strength, wrist range of movement, and testing skin sensitivity were assessed with the appropriate scales at different time intervals. In addition, cosmetic and quality of life were assessed using the Patient and Observer Scar Assessment Scale (POSAS) and Disability of Arm, Shoulder, and Hand (DASH) score. RESULTS: Eighty patients were enrolled (40 RFFF and 40 UFFF). The results showed a short-term reduction in grip strength, fine motor skills (tip pinch, key pinch, palmar pinch), and range of motion was observed for RFFF and improved over time. None of the patients in either group experienced functional disturbance in grip strength, wrist motion, fine motor skills, or sensation to light touch at 1 year. Nine patients experienced partial skin graft loss (RFFF = 6; UFFF = 3). There was a significantly higher incidence of temporary numbness in the RFFF group (p=0.040). Persistent numbness occurred in 3 cases in RFFF. Cold intolerance was significantly lower in UFFF (2.5 %) than in RFFF (22.5%). Moreover, the mean POSAS and DASH score reduced at 12 months compared to 6 months, significantly superior for UFFF. CONCLUSION: Objective function limitations are reversible short-term effects after forearm flap and do not affect daily routines in the long term. Additionally, UFFF appears to be preferred over RFFF for subjective outcomes, which emphasizes the UFFF should be considered an alternative to RFFF for reconstructing soft-tissue defects.

A novel flap design technique for subtotal tongue reconstruction with an "Individualized and Convenient Tongue Model".

BACKGROUND: To achieve improved functional outcomes in subtotal tongue reconstruction, a flap design with sufficient volume and appropriate shape is necessary. In this study, we introduce an "Individualized and Convenient Tongue Model" (ICTM) for flap design in subtotal tongue reconstruction. METHODS: By studying the anatomical morphology of the tongue, we found a similar geometry within the dorsum and body of the tongue as well as the mouth floor. This can be used to create an ICTM through folding and splicing. We can simulate tongue defects in the ICTM and transform defect shapes into guide plates for flap design. In this study, fifty-eight patients requiring subtotal tongue reconstruction were randomly divided into two groups: an ICTM group (35 patients) and a conventional group (31 patients). In the ICTM group, we individually designed profunda artery perforator flaps (PAPFs) or anterolateral thigh flaps (ALTFs) using the ICTM method. In the conventional group, the flap was designed according to the surgeon's clinical experience. Patient demographics, operative and follow-up data were recorded. Swallowing, speech intelligibility, and cosmetic results were assessed using appropriate scales. RESULTS: All flaps survived, although there were no significant differences in tumor size, operation time, flap size, and complication rate compared to the conventional group. Patients in the ICTM group had significantly improved speech intelligibility (p = 0.019), cosmetic appearance (p = 0.009), and swallowing ability (p = 0.003). CONCLUSIONS: The ICTM technique is an effective and convenient solution for subtotal tongue reconstruction that provides an individualized flap design and improves functional outcomes compared to the conventional design.

Red fluorescence protein (DsRed2) promotes the screening efficiency in peanut genetic transformation.

Peanut (Arachis hypogaea L.), one of the leading oilseed crops worldwide, is an important source of vegetable oil, protein, minerals and vitamins. Peanut is widely cultivated in Asia, Africa and America, and China is the largest producer and consumer of peanut. Genetic engineering has shown great potential to alter the DNA makeup of an organism which is largely hindered by the low transformation and screening efficiency including in peanut. DsRed2 is a reporter gene widely utilized in genetic transformation to facilitate the screening of transformants, but never used in peanut genetic transformation. In this study, we have demonstrated the potential of the red fluorescence protein DsRed2 as a visual reporter to improve screening efficiency in peanut. DsRed2 was firstly expressed in protoplasts isolated from peanut cultivar Zhonhua 12 by PEG, and red fluorescence was successfully detected. Then, DsRed2 was expressed in peanut plants Zhonghua 12 driven by 35S promoter via Agrobacterium tumefaciens-mediated transformation. Red fluorescence was visually observed in calli and regenerated shoots, as well as in roots, leaves, flowers, fresh pod shells and mature seeds, suggesting that transgenic screening could be initiated at the early stage of transformation, and continued to the progeny. Upon screening with DsRed2, the positive plant rate was increased from 56.9% to 100%. The transgenic line was then used as the male parent to be crossed with Zhonghua 24, and the hybrid seeds showed red fluorescence as well, indicating that DsRed2 could be applied to hybrid plant identification very efficiently. DsRed2 was also expressed in hairy roots of Huayu 23 via Agrobacterium rhizogenes-mediated transformation, and the transgenic roots were easily selected by red fluorescence. In summary, the DsRed2 is an ideal reporter to achieve maximum screening efficiency and accuracy in peanut genetic transformation.

High-operating-temperature mid-infrared photodetectors via quantum dot gradient homojunction.

Due to thermal carriers generated by a narrow mid-infrared energy gap, cooling is always necessary to achieve ideal photodetection. In quantum dot (QD), the electron thermal generation should be reduced with quantum confinement in all three dimensions. As a result, there would be a great potential to realize high-operating-temperature (HOT) QD mid-IR photodetectors, though not yet achieved. Taking the advantages of colloidal nanocrystals' solution processability and precise doping control by surface dipoles, this work demonstrates a HOT mid-infrared photodetector with a QD gradient homojunction. The detector achieves background-limited performance with D* = 2.7 × 1011 Jones on 4.2 µm at 80 K, above 1011 Jones until 200 K, above 1010 Jones until 280 K, and 7.6 × 109 Jones on 3.5 µm at 300 K. The external quantum efficiency also achieves more than 77% with responsivity 2.7 A/W at zero bias. The applications such as spectrometers, chemical sensors, and thermal cameras, are also approved, which motivate interest in low-cost, solution-processed and high-performance mid-infrared photodetection beyond epitaxial growth bulk photodetectors.

Vaginal Atopobium is Associated with Spontaneous Abortion in the First Trimester: a Prospective Cohort Study in China.

Spontaneous abortion (SA) has received more and more attention in light of its increasing incidence. However, the causes and pathogenesis of SA remain largely unknown, especially for those without any pathological features. In this study, we characterized the vaginal microbiota diversity and composition of pregnant women in their first trimester and evaluated the association between the vaginal microbiota and SA before 12 weeks of gestation. Participants' bacterial profiles were analyzed by 16S rRNA gene sequencing in the V3-V4 regions at 5-8 weeks of gestation. A total of 48 patients with SA at 12 weeks of gestation were included as the study group, while 116 women with normal pregnancies (NPs) were included as a control group. The results indicated that the richness of the vaginal microbiome in SA patients was higher (Chao1, P < 0.05) and different in composition relative to that of women with NPs (unweighted UniFrac, R = 0.15, P < 0.01; binary Jaccard, R = 0.15, P < 0.01). Furthermore, the genus Apotobium was significantly enriched in SA patients. An extreme gradient-boosting (XGBoost) analysis was able to classify Atopobium-induced SA more reliably (area under the receiver operating characteristic curve, 0.69; threshold, 0.01%). Moreover, after adjusting for potential confounders, the results showed a robust association between Apotobium and SA (as a categorical variable [<0.01%]; adjusted odds ratio, 2.9; 95% confidence interval, 1.3 to 6.5; P = 0.01). In conclusion, higher vaginal Apotobium levels were associated with SA in the first trimester. IMPORTANCE Spontaneous abortion (SA) is the most common adverse pregnancy outcome in the first trimester. The causal drivers of SA have become a substantial challenge to reveal and overcome. We hypothesize that vaginal microbial dysbiosis is associated with SA, as it was related to several female reproductive disorders in previous studies. In our study, we characterized the vaginal microbiota of patients with SA at 12 weeks of gestation as the study group, and women with normal pregnancies were enrolled as a control group. Generally, significant differences were discovered in the vaginal microbiota between the two groups. Our study also revealed that Apotobium may play an important role in the pathogenesis of SA. To our knowledge, this study is the first detailed elaboration of the vaginal microbiota composition and vaginal Apotobium in association with SA. We believe that our findings will inspire more researchers to consider dynamic changes in the vaginal microbiota as critical features for further studies of nosogenesis not only for SA but also other reproductive diseases.

Association Between Vaginal Gardnerella and Tubal Pregnancy in Women With Symptomatic Early Pregnancies in China: A Nested Case-Control Study.

The early diagnosis and treatment of ectopic pregnancy (EP) remains a major challenge. Despite a known link between vaginal microbiota and female reproductive health, few studies have focused on the association between vaginal microbiota and pregnancy location. This nested case-control study aimed to characterize the vaginal microbiota in tubal pregnancy (TP) among symptomatic women in early pregnancy. Women with symptomatic early pregnancy of unknown location (PUL) were included in this study. 16S rDNA gene sequencing was performed to assess vaginal microbial diversity and relative abundance. Machine learning and multivariate logistic regression were also used to evaluate the association between Gardnerella and TP. The results indicate that the vaginal microbiome in TP was more diverse (Shannon, p < 0.05) and was different in composition to that of women with intrauterine pregnancy (IUP) (weighted Unifrac, R = 0.08, p = 0.01). The genus Gardnerella was significantly enriched in TP. The XGBoost analysis was able to classify Gardnerella-induced TP more reliably (AUC = 0.621). Moreover, after adjusting potential confounders, our results indicate a robust association between Gardnerella and TP (as a continuous variable, adjusted OR: 12.0, 95% CI: 2.1-67.4, p < 0.01; as a categorical variable (≥0.85%), and adjusted OR: 4.2, 95% CI: 2.0-8.8, p < 0.01). In conclusion, we found that higher virginal Gardnerella levels were associated with TP in women with symptomatic early pregnancy.

Periodontal disease and Helicobacter pylori infection in oral cavity: a meta-analysis of 2727 participants mainly based on Asian studies.

OBJECTIVES: To assess the association between periodontal disease and Helicobacter pylori (H. pylori) infection in oral cavity. MATERIALS AND METHODS: We searched PubMed, Embase, Web of Science, Cochrane library, Gray literature, and clinicaltrials.gov for eligible studies up to September 25, 2019. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated. The random-effects model was used with the software STATA 13.0. The Newcastle-Ottawa-Scale was used for quality evaluation. RESULTS: Twelve observational studies (eight from Asia, one from Europe, and three from the South America) involving 2727 participants were included in the meta-analysis. The overall pooled results showed that H. pylori infection in oral cavity was associated with periodontal disease (OR 2.53, 95% CI 1.86-3.44, P < 0.05). No significant heterogeneity among the articles was observed (I2 = 44.3%, P < 0.05). The sensitivity analysis indicated that the result of our meta-analysis was generally stable. The Begg test and the Egger test both showed no publication bias was observed (P = 0.45 and P = 0.18 respectively). CONCLUSIONS: Based on current available evidence, it seemed there was a correlation between oral H. pylori infection and the occurrence of periodontal disease. However, since most of the data comes from Asia, more large-scale investigations with high quality from all over the world are needed to confirm the association. CLINICAL RELEVANCE: H. pylori infection in oral may have a positive association with the prevalence of periodontal disease mainly in Asian populations.

Genome-Wide Identification of Peanut KCS Genes Reveals That AhKCS1 and AhKCS28 Are Involved in Regulating VLCFA Contents in Seeds.

The peanut (Arachis hypogaea L.) is an important oilseed crop worldwide. Compared to other common edible vegetable oils, peanut oil contains a higher content of saturated fatty acids (SFAs), approximately 20-40% of which are very long chain fatty acids (VLCFAs). To understand the basis for this oil profile, we interrogated genes for peanut ß-ketoacyl-CoA synthase (KCS), which is known to be a key enzyme in VLCFA biosynthesis. A total of 30 AhKCS genes were identified in the assembled genome of the peanut. Based on transcriptome data, nine AhKCS genes with high expression levels in developing seeds were cloned and expressed in yeast. All these AhKCSs could produce VLCFAs but result in different profiles, indicating that the AhKCSs catalyzed fatty acid elongation with different substrate specificities. Expression level analysis of these nine AhKCS genes was performed in developing seeds from six peanut germplasm lines with different VLCFA contents. Among these genes, the expression levels of AhKCS1 or AhKCS28 were, 4-10-fold higher than that of any other AhKCS. However, only the expression levels of AhKCS1 and AhKCS28 were significantly and positively correlated with the VLCFA content, suggesting that AhKCS1 and AhKCS28 were involved in the regulation of VLCFA content in the peanut seed. Further subcellular localization analysis indicated that AhKCS1 and AhKCS28 were located at the endoplasmic reticulum (ER). Overexpression of AhKCS1 or AhKCS28 in Arabidopsis increased the contents of VLCFAs in the seed, especially for very long chain saturated fatty acids (VLCSFAs). Taken together, this study suggests that AhKCS1 and AhKCS28 could be key genes in regulating VLCFA biosynthesis in the seed, which could be applied to improve the health-promoting and nutritional qualities of the peanut.

Genome-wide expression quantitative trait locus analysis in a recombinant inbred line population for trait dissection in peanut.

The transcriptome connects genome to the gene function and ultimate phenome in biology. So far, transcriptomic approach was not used in peanut for performing trait mapping in bi-parental populations. In this research, we sequenced the whole transcriptome in immature seeds in a peanut recombinant inbred line (RIL) population and explored thoroughly the landscape of transcriptomic variations and its genetic basis. The comprehensive analysis identified total 49 691 genes in RIL population, of which 92 genes followed a paramutation-like expression pattern. Expression quantitative trait locus (eQTL) analysis identified 1207 local eQTLs and 15 837 distant eQTLs contributing to the whole-genome transcriptomic variation in peanut. There were 94 eQTL hot spot regions detected across the genome with the dominance of distant eQTL. By integrating transcriptomic profile and annotation analyses, we unveiled a putative candidate gene and developed a linked marker InDel02 underlying a major QTL responsible for purple testa colour in peanut. Our result provided a first understanding of genetic basis of whole-genome transcriptomic variation in peanut and illustrates the potential of the transcriptome-aid approach in dissecting important traits in non-model plants.

The expression of macrophage migration inhibitory factor and intercellular adhesion molecule-1 in rats with periodontitis and atherosclerosis.

OBJECTIVE: The aim of this study was to explore the role of macrophage migration inhibitory factor (MIF) and intercellular adhesion molecule (ICAM)-1 in rats with periodontitis and atherosclerosis. METHODS: Twenty-four male Sprague-Dawley rats were randomly divided into 4 groups: control group (C), periodontitis group (P), atherosclerosis group (AS), and periodontitis plus atherosclerosis group (P + AS). The levels of MIF and ICAM-1 in serum were detected by an enzyme-linked immunosorbent assay (ELISA). The protein expression of MIF and ICAM-1 in the carotid artery tissues was examined by immunohistochemical staining. RESULTS: The results of the ELISA showed that the serum level of MIF in the P + AS group (59.40 ±â€¯3.92 ng/mL) was significantly higher than that in the C group (42.93 ±â€¯2.63 ng/mL), the P group (45.57 ±â€¯2.59 ng/mL) and the AS group (50.88 ±â€¯4.20 ng/mL) (P < 0.05). Similarly, the ICAM-1 level in the P + AS group (6.77 ±â€¯1.47 ng/mL) was much higher than that in the C (1.33 ±â€¯0.25 ng/mL), P (3.99 ±â€¯0.44 ng/mL) and AS groups (4.19 ±â€¯0.89 ng/mL) (P < 0.05). Furthermore, the expression of MIF, as assessed by immunohistochemical staining, was significantly higher in the artery tissues of the P + AS group than in the tissues of the other three groups (P < 0.05). However, there was no significant difference in the protein level of ICAM-1 between the P + AS and AS groups, where its expression was much stronger than in the C and the P groups. CONCLUSION: Our results indicate that there is a close association between periodontitis and atherosclerosis. MIF and ICAM-1 may play a role in the development of atherosclerosis and periodontitis.

The dynamic evaporation process of the deep eutectic solvent LiTf2N:N-methylacetamide at ambient temperature.

Lithium-based deep eutectic solvents (DESs) are potential and promising electrolytes for energy-storing devices such as the lithium-ion battery and supercapacitor due to their greenness, low cost, favorable stability, and ease of synthesis. LiTf2N (lithium bis(trifluoromethylsulfonyl)imide):NMA (N-methylacetamide) is a liquid due to the strong intermolecular H-bonding interaction between the H-bonding acceptor (HBA, LiTf2N) and H-bonding donor (HBD, NMA). The properties (melting point, conductivity, viscosity, etc.) of LiTf2N:NMA change with the evaporation of NMA from LiTf2N:NMA, which would further influence the performance of the energy-storing devices. The evaporation of DES should be determined by the intermolecular interactions. Here, for the first time, the dynamic process of evaporation and intermolecular interactions of the DES LiTf2N:NMA at room temperature were investigated and we find that the evaporation mechanism of the DES LiTf2N:NMA can be divided into three stages. In the first stage (before 110 min), the H-bonding interaction between O in LiTf2N and NH in NMA is disrupted before destruction of the coordinating interaction related to amide II C[double bond, length as m-dash]O and Li cation. In the second stage (from 110 min to 270 min), the change of coordinating interaction related to amide II C[double bond, length as m-dash]O and Li cation is also higher than that of the H-bonded interaction. In the third stage (after 270 min), evaporation of NMA from LiTf2N:NMA has very little influence on the environment of LiTf2N:NMA. This work provides a guide for designing DESs as electrolytes for energy-storing devices such as the lithium-ion battery and supercapacitor.

Congenital Loss of Permanent Teeth in a Patient With Congenital Insensitivity to Pain With Anhidrosis due to 2 Novel Mutations in the NTRK1 Gene.

Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV, is an extremely rare autosomal recessive disorder. This study investigated the oral and craniofacial manifestations of a 7-year-old Chinese boy affected by CIPA and identified 2 novel mutations in the NTRK1 gene, and a new feature of the disorder was identified. The patient had typical features, including insensitivity to pain, anhidrosis, and mental retardation; recurrent fractures and osteoporosis also were noted. His oral and craniofacial manifestations included congenital blepharoptosis, a large number of missing teeth, serious tooth abrasion, severe soft tissue injuries, and dental caries. Radiographic examination showed congenital loss of the permanent tooth germs, thin and weak alveolar bone of the mandible, and a fracture of the right mandible. This study extends the spectrum of NTRK1 mutations observed in patients with a diagnosis of CIPA and is the first to propose that congenital loss of permanent teeth may occur in CIPA patients. Furthermore, it highlights the importance of including an oral and maxillofacial surgeon and a pediatric dentist on the multidisciplinary team.