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Congenital Anomalies Nov 2023
Topics: Mice; Animals; Ectromelia; Survival Rate; Limb Deformities, Congenital; Mutation; Genetic Background
PubMed: 37726960
DOI: 10.1111/cga.12541 -
Fetal and Pediatric Pathology 2024Phocomelia is a congenital limb deformity in which the proximal part of the upper or lower limb does not develop. Occasionally the malformed limb may be located...
Phocomelia is a congenital limb deformity in which the proximal part of the upper or lower limb does not develop. Occasionally the malformed limb may be located ectopically. We present a frontal phocomelia in a three-year-old girl with right-hand phocomelia and thoracoschisis. The patient's arm was connected directly from the front of the chest, with a rudimentary thumb and two fingers. The truncated arm was not functional. The acromioclavicular joint was abnormal and ectopic, the limb articulated with the medial side of sternum. The thoracoschisis manifested as eventration of the right liver lobe and right side of chest wall. Ectopic phocomelia can be associated with thoracoschisis, it can be nonfunctional, and can articulate with the sternum.
Topics: Female; Humans; Child, Preschool; Ectromelia; Limb Deformities, Congenital; Thoracic Wall; Liver; Extremities
PubMed: 37715664
DOI: 10.1080/15513815.2023.2258417 -
JPRAS Open Sep 2023We present a case describing a technique for the surgical management and aesthetico-functional reconstruction of a shoulder in an adult with unilateral upper limb...
We present a case describing a technique for the surgical management and aesthetico-functional reconstruction of a shoulder in an adult with unilateral upper limb phocomelia (ULP). A 25 year old male patient was presented to our clinic with upper left limb non-syndromic phocomelia. His main concerns was an aesthetically unpleasant limb and shoulder shape. Few older publications describe available options for pediatric patients, such as clavicle transposition or limb amputation, but nowadays ULP treatment options focus on prosthetic rehabilitation (PR) and targeted muscle reinnervation (TMR). Our patient refused any prosthesis, and TMR is expensive, requires an experienced rehabilitation team and has limited availability. We aim to describe a non-expensive, simple and effective option for selected adult patients with limited shoulder functionality wishes. We used the existent hypoplastic limb for shoulder mound reconstruction, providing the patient with a more anatomical shoulder shape. The palmar skin of the hypoplastic hand and three existing fingers were excised. Also, distal phalanges were amputated. Then, the hand was rotated and positioned under the coracoid process, creating a shoulder-like mound. there has been a loss of shoulder volume compared to early postoperative weeks, but the patient is satisfied with the results. Nevertheless, we found some limitations to our approach such as long-lasting postoperative pain, sensory symptomatology, and loss of volume of the reconstructed shoulder. Those could be solved with the complete denervation of the limb and a Latissimus Dorsi (LD) transposition flap in a second stage of reconstructive surgery.
PubMed: 37560485
DOI: 10.1016/j.jpra.2023.06.006 -
Microorganisms Jul 2023The phenomenon of pathogen co-infection detected in a half-fed tick taken from a human in the south of the Far East was studied. Research was carried out on , , and...
The phenomenon of pathogen co-infection detected in a half-fed tick taken from a human in the south of the Far East was studied. Research was carried out on , , and cell lines, outbred mice, and chicken embryos using ELISA, PCR, IMFA, plaque formation, and electron microscopy. The tick contained an antigen and a genetic marker of the tick-borne encephalitis virus (TBEV). The patient had post-vaccination antibodies in a titer of 1:200, as a result of which, obviously, an antibody-dependent elimination of TBEV occurred. The tick-borne co-isolate also contained an unknown pathogen ( virus), which, in our opinion, was a trigger for the activation of chronic infection in suckling white mice. In the laboratory co-isolate, ectromelia virus was present, as evidenced by paw edema during the intradermal infection of mice, characteristic rashes on the chorioallantoic envelope of chicken embryos, and typical plaques on Vero-E6. The virus was not pathogenic for white mice and chicken embryos, but it successfully multiplied in the , , and lines. Viral co-infection was confirmed by electron microscopy. Passaging on mice contributed to an increase in the virulence of the co-isolate, whose titer increased by 10,000 times by the fifth passage, which poses an epidemiological danger.
PubMed: 37512963
DOI: 10.3390/microorganisms11071791 -
World Journal of Clinical Cases Jul 2023Congenital glaucoma associated with Roberts syndrome (RS) is an unusual and unique condition. No previous report describes this association. A multidisciplinary approach...
BACKGROUND
Congenital glaucoma associated with Roberts syndrome (RS) is an unusual and unique condition. No previous report describes this association. A multidisciplinary approach including molecular studies were conducted to reach the final diagnosis.
CASE SUMMARY
We present a rare case of a 1-wk-old male with RS associated with bilateral congenital glaucoma, left ectopic kidney, and left-hand rudimentary digits. A comprehensive approach was applied by which bilateral non-penetrating glaucoma surgery was performed with good control of intraocular pressure for more than 6 mo. Cytogenetic and molecular testing were conducted and revealed normal measurements.
CONCLUSION
This report described a case of a male baby with clinical features of RS but with a negative molecular analysis, presenting with left-hand rudimentary digits, bilateral congenital glaucoma, and left ectopic kidney. To the best of our knowledge, this is the first case reported with phocomelia, bilateral congenital glaucoma, and unilateral ectopic kidney.
PubMed: 37469722
DOI: 10.12998/wjcc.v11.i19.4635 -
Voprosy Virusologii Jul 2023Following the successful eradication of smallpox, mass vaccination against this disease was discontinued in 1980. The unvaccinated population continues to be at risk of...
INTRODUCTION
Following the successful eradication of smallpox, mass vaccination against this disease was discontinued in 1980. The unvaccinated population continues to be at risk of infection due to military use of variola virus or exposure to monkeypox virus in Africa and non-endemic areas. In cases of these diseases, rapid diagnosis is of great importance, since the promptness and effectiveness of therapeutic and quarantine measures depend on it. The aim of work is to develop a kit of reagents for enzyme-linked immunosorbent assay (ELISA) for fast and highly sensitive detection of orthopoxviruses (OPV) in clinical samples.
MATERIALS AND METHODS
The efficiency of virus detection was evaluated by single-stage ELISA in the cryolisate of CV-1 cell culture samples infected with vaccinia, cowpox, rabbitpox, and ectromelia viruses, as well as in clinical samples of infected rabbits and mice.
RESULTS
The method of rapid ELISA was shown to allow the detection of OPV in crude viral samples in the range of 5.0 1025.0 103 PFU/ml, and in clinical samples with a viral load exceeding 5 103 PFU/ml.
CONCLUSIONS
The assay involves a minimum number of operations and can be performed within 45 minutes, which makes it possible to use it in conditions of a high level of biosecurity. Rapid ELISA method was developed using polyclonal antibodies, which significantly simplifies and reduces the cost of manufacturing a diagnostic system.
Topics: Rabbits; Animals; Mice; Orthopoxvirus; Vaccinia virus; Variola virus; Ectromelia virus; Enzyme-Linked Immunosorbent Assay
PubMed: 37436415
DOI: 10.36233/0507-4088-178 -
Hormone Research in Paediatrics 2024The thalidomide disaster resulted in tremendous congenital malformations in more than 10,000 children in the late 1950s and early 1960s. (Review)
Review
BACKGROUND
The thalidomide disaster resulted in tremendous congenital malformations in more than 10,000 children in the late 1950s and early 1960s.
SUMMARY
Although numerous putative mechanisms were proposed to explain thalidomide teratogenicity, it was confirmed only recently that thalidomide, rather its derivative 5-hydroxythalidomide (5HT) in a complex with the cereblon protein, interferes with early embryonic transcriptional regulation. 5HT induces selective degradation of SALL4, a principal transcriptional factor of early embryogenesis. Genetic syndromes caused by pathogenic variants of the SALL4 gene phenocopy thalidomide embryopathy with congenital malformations ranging from phocomelia, reduced radial ray, to defects of the heart, kidneys, ear, eye, and possibly cerebral midline and pituitary. SALL4 interacts with TBX5 and a handful of other transcriptional regulators and downregulates the Sonic hedgehog signaling pathway. Cranial midline defects, microcephaly, and short stature due to growth hormone deficiency have been occasionally reported in children carrying SALL4 pathogenic variants associated with generalized stunting of growth rather than just the loss of height attributable to the shortening of leg bones in many children with thalidomide embryopathy.
KEY MESSAGES
Thus, SALL4 joins the candidate gene list for monogenic syndromic pituitary insufficiency. In this review, we summarize the journey from the thalidomide disaster through the functions of the SALL4 gene to its link to the hormonal regulation of growth.
Topics: Humans; Abnormalities, Multiple; Fetal Diseases; Hedgehog Proteins; Thalidomide; Transcription Factors; Upper Extremity
PubMed: 37285827
DOI: 10.1159/000531452 -
Journal of Pediatric Orthopedics Aug 2023Fibular hemimelia (FH) represents the most common deficiency of the long bones and is associated with multiple deformities. Reconstructive treatment with external...
BACKGROUND
Fibular hemimelia (FH) represents the most common deficiency of the long bones and is associated with multiple deformities. Reconstructive treatment with external fixators in FH restores normal lower extremity alignment and length with plantigrade feet for a balanced and effective gait. The aim of this study is to evaluate the outcomes of lower limb lengthening and simultaneous tri-plane deformity correction with a computer-assisted hexagonal external fixator in children with FH.
METHODS
A retrospective review was performed for FH cases treated with a computer-assisted hexagonal external fixator in a tertiary referral center. Leg length discrepancy (LLD), interphyseal angles, tibiocalcaneal distances, healing index (HI), and callus shapes were analyzed for radiologic evaluation, and the Pediatric Quality of Life Inventory (PedsQL) was used for functional assessment. Limbs with HI <50 days/cm, PedsQL >75, and without regenerate fractures were considered successful lengthenings.
RESULTS
Twenty-four limbs of 23 patients were included. The limbs were lengthened for a mean of 7.24 cm (range, 4.7 to 15.6). The initial LLD of 5.6 cm (range, 0.5 to 19 cm) increased to 1.7 cm (range, 0.1 to 6 cm), and the mean interphyseal angle was 12.7 degree (range, 1.5 to 54.2 degree), tibiocalcaneal distance was 0.85 cm (range, 0.1 to 1.7) at final follow-up. The most common regenerated bone morphology was cylindrical, as seen in 11 limbs (45.8%). The average PedsQL score was 83.5 (range, 69.5 to 96.7). Sixteen limbs (66.7%) had successful lengthening at their first, and 4 limbs (80%) had successful lengthening at their second surgeries. Seven limbs had complications requiring surgical intervention (29.1%), with 3 (12.5%) regenerate fractures after external fixators removal.
CONCLUSIONS
Limb reconstruction with computer-assisted hexapod fixators is a successful and reliable option for the treatment of LLD in FH, and patients demonstrate good functional outcomes. Surgeons should be aware of potential complications and should utilize prophylactic measures when necessary.
LEVELS OF EVIDENCE
Level III, retrospective comparative study.
Topics: Child; Humans; Ectromelia; Retrospective Studies; Quality of Life; Bone Lengthening; External Fixators; Leg Length Inequality; Lower Extremity; Fractures, Bone; Computers; Treatment Outcome; Tibia
PubMed: 37254033
DOI: 10.1097/BPO.0000000000002436 -
JPMA. the Journal of the Pakistan... Apr 2023Mermaid syndrome (Sirenomelia) is a rare fatal congenital anomaly. The prevalence is reported to be 1 in 100,000 births. The baby appears to have a fish-like tail and...
Mermaid syndrome (Sirenomelia) is a rare fatal congenital anomaly. The prevalence is reported to be 1 in 100,000 births. The baby appears to have a fish-like tail and joined legs featuring a mermaid at the time of birth or during antenatal screening. Most of these patients die shortly after birth, denoting rare survival rate. Gastrointestinal and genitourinary obstruction with single umbilical artery are the clinical symptoms. Two important hypotheses support the Sirenomelia disorder: the artery steal hypothesis, called the vitelline artery, and the blastogenesis defect hypothesis. There is no known reason for MS, but certain risk factors need to be identified, which include mother aged more than 40 years or less than 20 years at the time of giving birth, cousin marriage, exposure to teratogenic agents, and family history. A case of this rare congenital disorder was seen in Civil Hospital Faisalabad, Pakistan, which was referred from Duniyapur, District Lodhran, Pakistan. The neonate presented with fused lower limbs, congenital heart disease, and high-grade fever. The mother had a history of gestational diabetes mellitus and hypertension. The baby had fused legs, unidentified internal and external genital system, thumbs anomaly, bile in vomit, and despite life-saving efforts, the patient expired after five days of birth. There is lack of information regarding symptoms and a lack of prenatal screening for MS. Hence, there is a need to create awareness among health care professionals to identify the disease on screening for early diagnosis.
Topics: Humans; Pregnancy; Female; Ectromelia; Abnormalities, Multiple; Prenatal Diagnosis; Kidney; Parturition; Death
PubMed: 37052015
DOI: 10.47391/JPMA.6073