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Frontiers in Medicine 2023As the only hospital-based national surveillance spot of birth defects (BDs) in Changzhou city located in the economically developed eastern part of China, Changzhou...
OBJECTIVE
As the only hospital-based national surveillance spot of birth defects (BDs) in Changzhou city located in the economically developed eastern part of China, Changzhou Maternal and Child Health Care Hospital has encountered serious challenges in BD prevention. This study aimed to describe the epidemiology of total BDs born in the hospital from 2014 to 2018.
METHODS
The data were collected from the national hospital-based birth defect surveillance system. BD prevalence was calculated by Poisson distribution. Trends of prevalence and the associations regarding information with BDs were analyzed by Poisson regression.
RESULTS
The reported prevalence of total BDs was 313.92 (95% confidence interval [CI]: 299.59-328.76) per 10,000 perinatal infants (PIs), while the perinatal prevalence of BD was 160.19 (95% CI: 150.00-170.89) per 10,000 PIs. A remarkable uptrend in the prevalence of BDs was noticed with a prevalence rate ratio (PRR) of 1.09 (95% CI: 1.04-1.14) and 1.13 (95% CI: 1.09-1.16), respectively. Congenital heart disease (CHD), cleft lip with or without cleft palate (CL/P), congenital malformation of the kidney (CMK), polydactyly, Down syndrome (DS), cystic hygroma, neural tube defect (NTD), and congenital talipes equinovarus (CTE) were common types of total BDs. Mothers living in the urban area (PRR = 1.67, 95% CI:1.50-1.87), male fetuses (PRR = 1.16, 95% CI: 1.05-1.28), and maternal age younger than 20 (PRR = 2.28, 95% CI: 1.60-3.25) and 25 years (PRR = 1.41, 95% CI: 1.22-1.63) or older than 35 years (PRR = 1.18, 95% CI: 1.00-1.40) were risk factors for BD occurrence.
CONCLUSION
The reported prevalence of total BDs was nearly two times higher than the perinatal prevalence of BDs in PIs, and the ranks of total BDs and BDs in PIs were different. Mothers living in the urban area, male fetuses, and maternal ages younger than 25 or older than 35 years were risk factors for BD incidence. Thus, improving prenatal examination technology, expanding the surveillance time quantum of BDs, and keeping maternal health may be warranted.
PubMed: 37766918
DOI: 10.3389/fmed.2023.1138946 -
Life (Basel, Switzerland) Sep 2023Syndactyly is the most common congenital malformation of the hand, leading to the fusion of the digits and frequently affecting the ring and middle fingers. The...
Syndactyly is the most common congenital malformation of the hand, leading to the fusion of the digits and frequently affecting the ring and middle fingers. The incidence is 1 out of 2500 children, predominantly occurring in boys and Caucasians. Clinically, the malformation may present as a soft tissue or bony fusion, resulting in the union of the fingers characterised as complete or incomplete. This fusion may involve the phalanges but may also extend to the carpal/tarsal bones, even to the metacarpal or metatarsal level, rarely to the distal end of the forearm and lower leg. The malformation is mostly isolated but may occur together with other disorders or malformations such as synostosis, acro-syndactyly, cleft hand, clinodactyly, or polydactyly. Syndromic syndactyly can be observed in cases of Apert syndrome, Poland's syndrome, Pfeiffer syndrome, and many others. A girl born in June of 2019 was diagnosed with congenital malformation of the right hand at birth-affecting the right middle, ring, and little fingers, respectively. After X-ray imaging, the fusion of the third and fourth proximal phalanges to a common metacarpal was identified, forming a unique diagnosis of clino-syndactyly with metacarpal aplasia. Surgical intervention was advocated for, including a wedge osteotomy to correct the synchondrosis at the phalangeal base and a dorsal flap to close the interdigital space created during the correction of the III and IV. fingers. A trapezoid flap for the release of the syndactyly of the IV and V. fingers was applied. The paper aims to present this surgical correction and its results regarding an atypical case of syndactyly with clinodactyly and metacarpal aplasia.
PubMed: 37763346
DOI: 10.3390/life13091943 -
The Korean Journal of Internal Medicine Jan 2024
Topics: Male; Humans; Aged, 80 and over; Coronary Angiography; Radial Artery; Percutaneous Coronary Intervention; Polydactyly; Treatment Outcome
PubMed: 37750033
DOI: 10.3904/kjim.2023.196 -
Frontiers in Genetics 2023Meckel Syndrome (MKS, OMIM #249000) is a rare and fatal autosomal recessive ciliopathy with high clinical and genetic heterogeneity. MKS shows complex allelism with...
Meckel Syndrome (MKS, OMIM #249000) is a rare and fatal autosomal recessive ciliopathy with high clinical and genetic heterogeneity. MKS shows complex allelism with other related ciliopathies such as Joubert Syndrome (JBTS, OMIM #213300). In MKS, the formation and function of the primary cilium is defective, resulting in a multisystem disorder including occipital encephalocele, polycystic kidneys, postaxial polydactyly, liver fibrosis, central nervous system malformations and genital anomalies. This study aimed to analyze the genotype of MKS patients and investigate the correlation between genotype and phenotype. A nonconsanguineous couple who conceived four times with a fetus affected by multiorgan dysfunction and intrauterine fetal death was studied. Whole exome sequencing (WES) was performed in the proband to identify the potentially pathogenic variant. Sanger sequencing was performed in family members. In silico tools were used to analyse the pathogenicity of the identified variants. cDNA TA-cloning sequencing was performed to validate the effects of intronic variants on mRNA splicing. Quantitative real-time PCR was performed to investigate the effect of the variants on gene expression. Immunofluorescence was performed to observe pathological changes of the primary cilium in kidney tissue from the proband. Two splice site variants of (NM_001077418.2, c.583-1G>C and c.583-2_588delinsTCCTCCC) were identified in the proband, and the two variants have not been previously reported. The parents were confirmed as carriers. The two variants were predicted to be pathogenic by tools and were classified as pathogenic/likely pathogenic variants according to the American College of Medical Genetics and Genomics guideline. cDNA TA cloning analysis showed that both splice site variants caused a deletion of exon 5. RT-PCR revealed that the expression of was significantly decreased and immunofluorescence showed that the primary cilium was almost absent in the proband's kidney tissue. We reported the clinical, genetic, molecular and histochemical characterisation of a family affected by MKS. Our findings not only extended the mutation spectrum of the gene, but also revealed for the first time the pathological aetiology of primary cilia in humans and provide a basis for genetic counselling of the parents to their offspring.
PubMed: 37736303
DOI: 10.3389/fgene.2023.1252873 -
Neuroscience Research Dec 2023Kinesin motor proteins play crucial roles in anterograde transport of cargo vesicles in neurons, moving them along axons from the cell body towards the synaptic region.... (Review)
Review
Kinesin motor proteins play crucial roles in anterograde transport of cargo vesicles in neurons, moving them along axons from the cell body towards the synaptic region. Not only the transport force and velocity of single motor protein, but also the number of kinesin molecules involved in transporting a specific cargo, is pivotal for synapse formation. This collective transport by multiple kinesins ensures stable and efficient cargo transport in neurons. Abnormal increases or decreases in the number of engaged kinesin molecules per cargo could potentially act as biomarkers for neurodegenerative diseases such as Alzheimer's, Parkinson's, amyotrophic lateral sclerosis (ALS), spastic paraplegia, polydactyly syndrome, and virus transport disorders. We review here a model constructed using physical measurements to quantify the number of kinesin molecules associated with their cargo, which could shed light on the molecular mechanisms of neurodegenerative diseases related to axonal transport.
Topics: Humans; Kinesins; Axonal Transport; Axons; Dyneins; Amyotrophic Lateral Sclerosis
PubMed: 37734449
DOI: 10.1016/j.neures.2023.09.004 -
The American Journal of Case Reports Sep 2023BACKGROUND Congenital thumb duplication comes under the Wassel type IV classification is the hypoplastic variety, with the extra digit growing from the dominant thumb's...
BACKGROUND Congenital thumb duplication comes under the Wassel type IV classification is the hypoplastic variety, with the extra digit growing from the dominant thumb's soft tissue alone. Excising the hypoplastic finger while reconstructing for the retained one has been the most adopted approach. Tourniquets are commonly utilized tools in orthopedic surgeries to reduce the amount of blood, thus enhancing the visibility. Unfortunately, tourniquet-related nerve injury (TNRI) is gaining more attention as a serious complication of tourniquet use in surgery. CASE REPORT A 13-year-old Asian boy with preaxial polydactyly Wassel type IV of the right hand underwent reconstruction surgery. A pneumatic tourniquet was applied at 200 mmHg on the right mid-upper arm and maintained for 90 min. After the surgery, the patient had total weakness with numbness, tingling, and burning sensation from his right upper arm to his fingertips. The neurological examination and nerve conduction studies (NCS) results were consistent with axonotmesis lesions. Pharmacological and physical rehabilitation therapy had successfully restored full motoric and sensory function after 6 months. CONCLUSIONS Nerve injury should be acknowledged as a possible complication from routinely-utilized tourniquets in orthopedic surgeries. Our cases may expand the need for further studies to establish a guideline for tourniquet use and TRNI management.
Topics: Male; Humans; Adolescent; Surgery, Plastic; Tourniquets; Hand; Thumb; Paresthesia; Polydactyly
PubMed: 37715365
DOI: 10.12659/AJCR.940977 -
HGG Advances Oct 2023MYCN, a member of the MYC proto-oncogene family, regulates cell growth and proliferation. Somatic mutations of MYCN are identified in various tumors, and germline...
MYCN, a member of the MYC proto-oncogene family, regulates cell growth and proliferation. Somatic mutations of MYCN are identified in various tumors, and germline loss-of-function variants are responsible for Feingold syndrome, characterized by microcephaly. In contrast, one megalencephalic patient with a gain-of-function variant in MYCN, p.Thr58Met, has been reported, and additional patients and pathophysiological analysis are required to establish the disease entity. Herein, we report two unrelated megalencephalic patients with polydactyly harboring MYCN variants of p.Pro60Leu and Thr58Met, along with the analysis of gain-of-function and loss-of-function Mycn mouse models. Functional analyses for MYCN-Pro60Leu and MYCN-Thr58Met revealed decreased phosphorylation at Thr58, which reduced protein degradation mediated by FBXW7 ubiquitin ligase. The gain-of-function mouse model recapitulated the human phenotypes of megalencephaly and polydactyly, while brain analyses revealed excess proliferation of intermediate neural precursors during neurogenesis, which we determined to be the pathomechanism underlying megalencephaly. Interestingly, the kidney and female reproductive tract exhibited overt morphological anomalies, possibly as a result of excess proliferation during organogenesis. In conclusion, we confirm an MYCN gain-of-function-induced megalencephaly-polydactyly syndrome, which shows a mirror phenotype of Feingold syndrome, and reveal that MYCN plays a crucial proliferative role, not only in the context of tumorigenesis, but also organogenesis.
Topics: Mice; Animals; Humans; Female; Microcephaly; Gain of Function Mutation; N-Myc Proto-Oncogene Protein; Polydactyly; Phenotype; Megalencephaly; Eyelids; Intellectual Disability; Tracheoesophageal Fistula; Limb Deformities, Congenital
PubMed: 37710961
DOI: 10.1016/j.xhgg.2023.100238 -
The Journal of Hand Surgery, European... Dec 2023Ulnar dimelia is a very rare unilateral congenital upper limb anomaly (CULA) affecting the whole extremity. Treatment remains difficult because of the complexity and... (Review)
Review
Ulnar dimelia is a very rare unilateral congenital upper limb anomaly (CULA) affecting the whole extremity. Treatment remains difficult because of the complexity and multi-level involvement. Twenty-four cases with duplicated ulna, absent radius and polydactyly from seven European centres were reviewed according to a structured list of parameters. At first consultation, median age 8 months (1-178), the shoulder movement was good in 17 patients or poor in six, and the median passive elbow range of motion was 20° (0°-90°). The resting wrist position was flexed in 22/24 patients. Following stretching and splinting, elbow surgery included resection of the lateral proximal ulna in 11 patients and muscle transfers in six to improve passive movement and increase active elbow motion, respectively. Tendon transfers were performed in eight wrists and a pollicization or pseudo-pollicization in 23 patients. Overall, patients demonstrate acceptable function postoperatively. Guidelines for treatment of this severe CULA are presented. IV.
Topics: Humans; Hand Deformities, Congenital; Ulna; Polydactyly; Wrist Joint; Upper Extremity; Radius
PubMed: 37684016
DOI: 10.1177/17531934231196418 -
JPRAS Open Dec 2023Thumb triplication is a very rare pattern of radial polydactyly that presents as a more complicated form of thumb. Because of its morphological complexity, treatment...
Thumb triplication is a very rare pattern of radial polydactyly that presents as a more complicated form of thumb. Because of its morphological complexity, treatment often requires surgical ingenuity in addition to the conventional surgical treatment algorithms for duplication. We report the case of thumb triplication on the right hand of a 17-month-old boy. We performed on-top-plasty of the ulnar thumb over the intermediate thumb, and achieved a functional and aesthetic thumb. The technique of on-top-plasty is effective for finger reconstruction that maximizes the use of limited tissue and is widely used for treating hand trauma and congenital hand anomalies. In the present case, on-top-plasty contributed most effectively to creating a sufficiently sized thumb, achieving interphalangeal optimization by joining the extra middle phalanx with the proximal phalanx, and securing the first web space by moving the ulnar thumb laterally.
PubMed: 37675276
DOI: 10.1016/j.jpra.2023.08.007 -
Pediatrics and Neonatology Mar 2024Previous classifications in polydactyly of the thumb were by the level of duplication on radiography. This study aimed to develop a practical algorithm based on physical...
BACKGROUND
Previous classifications in polydactyly of the thumb were by the level of duplication on radiography. This study aimed to develop a practical algorithm based on physical characteristics for treatment guidelines.
METHODS
The polydactylies were stratified using four physical characteristics: floating, symmetry, dominant side, and joint angulation/nail size. The algorithm identified the hypoplastic type and then stratified the polydactylies as symmetric and asymmetric. The asymmetric type was divided into ulnar dominant and radial dominant. The symmetric type was divided into adequate type and inadequate type. The prediction of treatments was studied retrospectively by the distribution of surgical procedures in 500 patients with 545 affected thumbs, by the new classification and the Wassel-Flatt classification.
RESULTS
Of the 545 polydactylies, 78 (14.5%) were categorized as the hypoplastic type, 369 (67.5%) as the ulnar-dominant type, 8 (1.5%) as the radial-dominant type, 70 (12.8%) as the symmetric adequate nail type, and 20 (3.7%) as the symmetric inadequate type. Treatments were excision and reconstruction in 403 polydactylies (73.9%), simple excision in 135 polydactylies (24.8%), and the Bilhaut-Cloquet procedure, ray amputation, and on-top plasty procedures were only performed in 7 polydactylies (1.3%). The distribution of surgical procedures was distinct among the new classification types and was similar among the Wassel-Flatt types.
CONCLUSIONS
The new classification stratified polydactylies by physical findings in a stepwise manner. Though surgical technical details are not included, this simple classification is useful for paediatricians and parents to understand how a surgical decision is made.
LEVEL OF EVIDENCE
Diagnostic Level IV.
Topics: Humans; Thumb; Retrospective Studies; Plastic Surgery Procedures; Polydactyly
PubMed: 37658029
DOI: 10.1016/j.pedneo.2023.04.013