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Child's Nervous System : ChNS :... Jul 2021This paper reviews the plausible etiological mechanisms, clinical features, preoperative analysis, and documented modern-day craniopagus parasiticus surgical separation... (Review)
Review
Craniopagus parasiticus: successful separation of a 28-week preterm newborn from parasite sibling twin bearing lethal congenital anomalies associated to Cantrell's pentad and sirenomelia-case-based review of the literature.
PURPOSE
This paper reviews the plausible etiological mechanisms, clinical features, preoperative analysis, and documented modern-day craniopagus parasiticus surgical separation attempts as well as an historical review of the few cases documented in the literature.
METHODS
We describe the successful separation of a 28-week preterm newborn from its parasite sibling twin bearing lethal congenital anomalies associated to Cantrell's pentad and sirenomelia. Description of the case, plausible explanations on the mechanisms of conjointment along with the associated congenital abnormalities of the deceased twin are examined along with an historical revision of craniopagus parasiticus and their separation attempts with special attention to the previously undocumented attempt of the Dominican CP separation surgery by Lazareff et al. RESULTS: The use of the deceased twin cranial vault tissues (skin, bone, and duramater) as an autologous implant due to the identical genetical profile served to remodel and close the skull of the surviving twin with good esthetic results and no tissue rejection. To our knowledge, this is the youngest preterm set of craniopagus parasiticus separated in an emergency fashion with good functional and esthetic outcome.
CONCLUSIONS
Craniopagus parasiticus is an infrequent subvariant of this rare form of twin conjointment which may require urgent separation due to the associated malformations of the parasitic twin; therefore, the fact that both siblings are genetically identical may prove as an advantage to use duramater, bone, and soft tissues from the parasitic twin as ideal grafts for covering the resultant defect after the separation has been performed.
Topics: Animals; Ectromelia; Humans; Infant, Newborn; Parasites; Siblings; Skull; Twins, Conjoined
PubMed: 33934204
DOI: 10.1007/s00381-021-05179-8 -
Microorganisms Sep 2023Guanylate-binding proteins (GBPs) are highly expressed interferon-stimulated genes (ISGs) that play significant roles in protecting against invading pathogens. Although...
Guanylate-binding proteins (GBPs) are highly expressed interferon-stimulated genes (ISGs) that play significant roles in protecting against invading pathogens. Although their functions in response to RNA viruses have been extensively investigated, there is limited information available regarding their role in DNA viruses, particularly poxviruses. Ectromelia virus (ECTV), a member of the orthopoxvirus genus, is a large double-stranded DNA virus closely related to the monkeypox virus and variola virus. It has been intensively studied as a highly effective model virus. According to the study, GBP2 overexpression suppresses ECTV replication in a dose-dependent manner, while GBP2 knockdown promotes ECTV infection. Additionally, it was discovered that GBP2 primarily functions through its N-terminal GTPase activity, and the inhibitory effect of GBP2 was disrupted in the GTP-binding-impaired mutant GBP2. This study is the first to demonstrate the inhibitory effect of GBP2 on ECTV, and it offers insights into innovative antiviral strategies.
PubMed: 37764102
DOI: 10.3390/microorganisms11092258 -
Journal of Anatomy Jun 2024The etiology of sirenomelia is currently unknown. Data are limited in comparing external and internal abnormalities using modern imaging technologies and molecular...
The etiology of sirenomelia is currently unknown. Data are limited in comparing external and internal abnormalities using modern imaging technologies and molecular genetic analysis. The purpose of the current study was designed to compare external and internal anatomical defects in two cases of sirenomelia and Potter's sequence. Considered rare, Potter's sequence is a fetal disorder with characteristic features of bilateral renal agenesis, obstructive uropathy, atypical facial appearance, and limb malformations. The internal and external malformations of two term fetuses with sirenomelia and Potter's sequence were compared using assessment of external features, radiography and MRI on internal structures, and molecular genetic studies on sex determination. Data reveal that both fetuses were male and manifested with an overlapping but distinct spectrum of abnormalities. Principal differences were noted in the development of the ears, brain, urogenital system, lower limbs, pelvis, and vertebral column. Defects of the axial mesoderm are likely to underlie the abnormalities seen in both fetuses. The first one, which had only caudal defects, was found to have a spectrum of abnormalities most similar to those associated with more severe forms of the small pelvic outlet syndrome, although the structure and orientation of the sacrum and iliae were different from previously reported cases. The other had both caudal and cranial defects, and was most similar to those described in the axial mesodermal dysplasia syndrome. Defects associated with sirenomelia can be evaluated with standard gross anatomy examination, radiology, MRI, and modified PCR techniques to determine anatomical abnormalities and the sex of preserved specimens, respectively. Evidence indicated that sirenomelia could be developed via various etiologies.
Topics: Humans; Male; Ectromelia; Female; Magnetic Resonance Imaging; Abnormalities, Multiple; Pregnancy; Fetus
PubMed: 38267217
DOI: 10.1111/joa.14015 -
Science Advances Jun 2020The positional information theory proposes that a coordinate system provides information to embryonic cells about their position and orientation along a patterning axis....
The positional information theory proposes that a coordinate system provides information to embryonic cells about their position and orientation along a patterning axis. Cells interpret this information to produce the appropriate pattern. During development, morphogens and interpreter transcription factors provide this information. We report a gradient of Meis homeodomain transcription factors along the mouse limb bud proximo-distal (PD) axis antiparallel to and shaped by the inhibitory action of distal fibroblast growth factor (FGF). Elimination of Meis results in premature limb distalization and HoxA expression, proximalization of PD segmental borders, and phocomelia. Our results show that Meis transcription factors interpret FGF signaling to convey positional information along the limb bud PD axis. These findings establish a new model for the generation of PD identities in the vertebrate limb and provide a molecular basis for the interpretation of FGF signal gradients during axial patterning.
PubMed: 32537491
DOI: 10.1126/sciadv.aaz0742 -
Spine Deformity Jan 2023The purpose of this study is to present a case report of a patient with bilateral upper extremity phocomelia with progressive scoliosis, who underwent vertebral body...
PURPOSE
The purpose of this study is to present a case report of a patient with bilateral upper extremity phocomelia with progressive scoliosis, who underwent vertebral body tethering (VBT).
METHODS
This is a case report on the use of VBT in a patient with scoliosis and bilateral congenital phocomelia, with 5 year follow-up.
RESULTS
A male patient with bilateral phocomelia had early onset scoliosis that progressed to 45° at age 10. Surgical options were discussed, including traditional VBT, posterior spinal fusion, growing rods, magnetically controlled growing rods, and vertical expandible prosthetic titanium ribs. These options would limit the flexibility of the spine. Given these pitfalls, VBT was chosen, as it would address the scoliosis while maintaining trunk flexibility. Preoperatively, he had 45° right main thoracic curve, bending to 22°; he was Risser 0 with open triradiate cartilage. He underwent T6-T11 thoracoscopic VBT, with postoperative correction to 37°. Postoperatively, the patient was able to continue to use his lower extremities for writing, feeding, and personal grooming. He had no postoperative complications. At 3 years, his curve was 21°, and at 5 years was 19°.
CONCLUSION
This case describes a novel technique for treating scoliosis in patients with bilateral phocomelia. Other forms of scoliosis surgical treatment limit motion of the spine. Due to this, we present VBT as an option for this unique set of patients for correcting scoliosis, while also preserving trunk flexibility for its role in feeding and self-care.
Topics: Humans; Male; Child; Scoliosis; Thoracic Vertebrae; Vertebral Body; Ectromelia; Treatment Outcome
PubMed: 35918628
DOI: 10.1007/s43390-022-00562-0 -
Cellular Microbiology Aug 2020The induction of Smad signalling by the extracellular ligand TGF-β promotes tissue plasticity and cell migration in developmental and pathological contexts. Here, we...
The induction of Smad signalling by the extracellular ligand TGF-β promotes tissue plasticity and cell migration in developmental and pathological contexts. Here, we show that vaccinia virus (VACV) stimulates the activity of Smad transcription factors and expression of TGF-β/Smad-responsive genes at the transcript and protein levels. Accordingly, infected cells share characteristics to those undergoing TGF-β/Smad-mediated epithelial-to-mesenchymal transition (EMT). Depletion of the Smad4 protein, a common mediator of TGF-β signalling, results in an attenuation of viral cell-to-cell spread and reduced motility of infected cells. VACV induction of TGF-β/Smad-responsive gene expression does not require the TGF-β ligand or type I and type II TGF-β receptors, suggesting a novel, non-canonical Smad signalling pathway. Additionally, the spread of ectromelia virus, a related orthopoxvirus that does not activate a TGF-β/Smad response, is enhanced by the addition of exogenous TGF-β. Together, our results indicate that VACV orchestrates a TGF-β-like response via a unique activation mechanism to enhance cell migration and promote virus spread.
Topics: Cell Line, Tumor; Cell Movement; Epithelial-Mesenchymal Transition; HT29 Cells; HaCaT Cells; HeLa Cells; Humans; Signal Transduction; Smad4 Protein; Transforming Growth Factor beta; Vaccinia virus
PubMed: 32237038
DOI: 10.1111/cmi.13206 -
Viruses Nov 2022The aim of the work was an experimental evaluation of the characteristics of the kit for the rapid immunochemical detection of orthopoxviruses (OPV). The kit is based on...
The aim of the work was an experimental evaluation of the characteristics of the kit for the rapid immunochemical detection of orthopoxviruses (OPV). The kit is based on the method of one-stage dot-immunoassay on flat protein arrays using gold conjugates and a silver developer. Rabbit polyclonal antibodies against the vaccinia virus were used as capture and detection reagents. The sensitivity of detection of OPV and the specificity of the analysis were assessed using culture crude preparations (monkeypox virus, vaccinia virus, rabbitpox virus, cowpox virus, and ectromelia virus), a suspension from a crust from a human vaccination site as well as blood and tissue suspensions of infected rabbits. It has been shown that the assay using the kit makes it possible to detect OPV within 36 min at a temperature of 18-40 °C in unpurified culture samples of the virus and clinical samples in the range of 10-10 PFU/mL. Tests of the kit did not reveal cross-reactivity with uninfected cell cultures and viral pathogens of exanthematous infections (measles, rubella and chicken pox). The kit can be used to detect or exclude the presence of a virus threat in samples and can be useful in various aspects of biosecurity. The simplicity of analysis, the possibility of visual accounting the and interpretation of the results make it possible to use the test in laboratories with a high level of biological protection and in out-of-laboratory conditions.
Topics: Animals; Humans; Rabbits; Orthopoxvirus; Laboratories; Monkeypox virus; Vaccinia virus; Immunoassay
PubMed: 36423189
DOI: 10.3390/v14112580 -
Viruses Aug 2019Since the eradication of smallpox, there have been increases in poxvirus infections and the emergence of several novel poxviruses that can infect humans and domestic...
Since the eradication of smallpox, there have been increases in poxvirus infections and the emergence of several novel poxviruses that can infect humans and domestic animals. In 2015, a novel poxvirus was isolated from a resident of Alaska. Diagnostic testing and limited sequence analysis suggested this isolate was a member of the () genus but was highly diverged from currently known species, including . Here, we present the complete 210,797 bp genome sequence of the Alaska poxvirus isolate, containing 206 predicted open reading frames. Phylogenetic analysis of the conserved central region of the genome suggested the Alaska isolate shares a common ancestor with Old World OPXVs and is diverged from New World OPXVs. We propose this isolate as a member of a new OPXV species, (). The AKPV genome contained host range and virulence genes typical of OPXVs but lacked homologs of C4L and B7R, and the hemagglutinin gene contained a unique 120 amino acid insertion. Seven predicted AKPV proteins were most similar to proteins in non-OPXV Murmansk or NY_014 poxviruses. Genomic analysis revealed evidence suggestive of recombination with Ectromelia virus in two putative regions that contain seven predicted coding sequences, including the A-type inclusion protein.
Topics: Alaska; DNA, Viral; Genetic Variation; Genome, Viral; Humans; Open Reading Frames; Orthopoxvirus; Phylogeny; Poxviridae Infections; Recombination, Genetic; Sequence Analysis, DNA; Viral Proteins
PubMed: 31375015
DOI: 10.3390/v11080708 -
Archives of Oral Biology Nov 2020Juberg-Hayward syndrome (JHS; MIM 216100) is a rare autosomal recessive malformation syndrome, characterized by cleft lip/palate, microcephaly, ptosis, hypoplasia or...
OBJECTIVE
Juberg-Hayward syndrome (JHS; MIM 216100) is a rare autosomal recessive malformation syndrome, characterized by cleft lip/palate, microcephaly, ptosis, hypoplasia or aplasia of thumbs, short stature, dislocation of radial head, and fusion of humerus and radius leading to elbow restriction. A homozygous mutation in ESCO2 has recently been reported to cause Juberg-Hayward syndrome. Our objective was to investigate the molecular etiology of Juberg-Hayward syndrome in two affected Lisu tribe brothers.
MATERIALS AND METHODS
Two patients, the unaffected parents, and two unaffected siblings were studied. Clinical and radiographic examination, whole exome sequencing, Sanger sequencing, Western blot analysis, and chromosome testing were performed.
RESULTS
Two affected brothers had characteristic features of Juberg-Hayward syndrome, except for the absence of microcephaly. The elder brother had bilateral cleft lip and palate, short stature, humeroradial synostosis, and simple partial seizure with secondary generalization. The younger brother had unilateral cleft lip and palate, short stature, and dislocation of radial heads. The homozygous (c.1654C > T; p.Arg552Ter) mutation in ESCO2 was identified in both patients. The other unaffected members of the family were heterozygous for the mutation. The presence of humeroradial synostosis and radial head dislocation in the same family is consistent with both being in the same spectrum of forearm malformations. Chromosome testing of the affected patients showed premature centromere separation. Western blot analysis showed reduced amount of truncated protein.
CONCLUSION
Our findings confirm that a homozygous mutation in ESCO2 is the underlying cause of Juberg-Hayward syndrome. Microcephaly does not appear to be a consistent feature of the syndrome.
Topics: Acetyltransferases; Chromosomal Proteins, Non-Histone; Craniofacial Abnormalities; Ectromelia; Humans; Hypertelorism; Male; Mutation; Orofaciodigital Syndromes
PubMed: 32977150
DOI: 10.1016/j.archoralbio.2020.104918 -
Journal of Pediatric Orthopedics Sep 2020Fibula hemimelia is the most common congenital deficiency of long bones. Primary treatment options include amputation with prosthetic fitting or limb reconstruction. The... (Meta-Analysis)
Meta-Analysis
PURPOSE
Fibula hemimelia is the most common congenital deficiency of long bones. Primary treatment options include amputation with prosthetic fitting or limb reconstruction. The aim of our study was to conduct a systematic review comparing amputation with limb reconstruction for fibula hemimelia.
METHODS
MEDLINE, EMBASE, Web of Science, Elsevier Scopus, and the Cochrane Registry of Clinical Trials were searched from 1951 to 2019 for studies that evaluated amputation versus limb reconstruction for fibula hemimelia. Random effect models were utilized for the meta-analytic comparisons of amputation versus limb reconstruction for patient satisfaction and surgical complications. Descriptive, quantitative, and qualitative data were extracted.
RESULTS
Seven retrospective cohort studies were eligible for the meta-analysis, with a total of 169 fibula hemimelia cases. Amputation resulted in an odds ratio of 6.8 (95% confidence interval: 2.4, 19.2) when compared with limb reconstruction in terms of patient satisfaction. Furthermore, limb reconstruction was found to have an odds ratio of 28 (95% confidence interval: 7.8, 100.3) for complications. The total surgical complication rates in the amputation and limb reconstruction groups were 0.2 and 1.2 complications per limb. The rate of surgical procedures per patient was 1.5 and 4.2 for amputation and limb reconstruction, respectively.
CONCLUSIONS
The cumulative evidence at present indicates better patient satisfaction with less surgical complications and less number of procedures with amputation for fibula hemimelia when compared with limb reconstruction. Absence of uniform protocols make it difficult to compare results accurately.
LEVEL OF EVIDENCE
Level III-therapeutic.
Topics: Amputation, Surgical; Ectromelia; Fibula; Humans; Outcome Assessment, Health Care; Patient Satisfaction; Postoperative Complications; Plastic Surgery Procedures
PubMed: 31972725
DOI: 10.1097/BPO.0000000000001510