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Virus Research Jan 2023p28 is a poxvirus-encoded E3 ubiquitin ligase that possesses an N-terminal KilA-N domain and a C-terminal RING domain. In Ectromelia virus (ECTV), disruption of the p28...
p28 is a poxvirus-encoded E3 ubiquitin ligase that possesses an N-terminal KilA-N domain and a C-terminal RING domain. In Ectromelia virus (ECTV), disruption of the p28 RING domain severely attenuated virulence in A strain mice, which normally succumb to ECTV infection. Moreover, this mutant virus exhibited dramatically reduced genome replication and impaired factory formation in A strain mice peritoneal macrophages (PMs) infected at high multiplicity of infection (MOI) These defects were not observed in PMs isolated from C57BL/6 mice which survive ECTV infection, demonstrating that p28 functions in a context-specific manner. To further investigate p28 function, we completely deleted the p28 gene from ECTV (ECTV-Δp28). In contrast to previous findings, we found that the ECTV-Δp28 virus exhibited severely compromised virus production and genome replication in PMs isolated from A strain mice only when infected at low MOI. This defect was minimal in bone marrow-derived macrophages and two cell lines derived from A strain mice. Furthermore, this low MOI defect in virus production was also observed in PMs isolated from the susceptible BALB/c mouse strain, but not PMs isolated from C57BL/6 mice. Taken together, our data demonstrate that the requirement for ECTV p28 to establish a productive infection depends on the MOI, the cell type, as well as the mouse strain.
PubMed: 36244618
DOI: 10.1016/j.virusres.2022.198968 -
Ultrasound in Obstetrics & Gynecology :... Apr 2023
Topics: Humans; Amniotic Fluid; Ectromelia; Kidney; Kidney Diseases; Congenital Abnormalities
PubMed: 36173397
DOI: 10.1002/uog.26076 -
Plastic and Reconstructive Surgery Dec 2022Sirenomelia is a rare syndrome in which the infant is born with the legs fused from the pelvis to the feet. Sirenomelia is often fatal in the neonatal period because of... (Review)
Review
BACKGROUND
Sirenomelia is a rare syndrome in which the infant is born with the legs fused from the pelvis to the feet. Sirenomelia is often fatal in the neonatal period because of multiple other anomalies. The feet may be absent; if present, they are often splayed outward or face backward. There are no case reports of any patient with this syndrome who has been able to walk after separation of the legs.
METHODS
The authors report on their patient with sirenomelia who was born with the feet facing backward but otherwise normal-appearing hips and thighs and no other anomalies that would lead to fatality in the near future. After preoperative tissue expansion, the authors performed separation of the legs with through-knee amputations, utilizing a vascularized flap from the lower part of the legs based on the sciatic vessels for coverage of the perineum. There was no need for skin grafts or dermal matrices and the patient was referred to physical therapy after recovery from surgery in an attempt to allow her to ambulate.
RESULTS
The patient began to ambulate on her stumps early after surgical repair and is now walking with stubby prostheses. Her other medical issues have remained stable and nonproblematic.
CONCLUSIONS
Selected patients with sirenomelia may be able to walk after separation of the legs, depending on the status of other congenital differences as well as the status of the legs when separated. Careful workup with multidisciplinary planning of overall care as well as surgical care is essential.
Topics: Female; Humans; Infant, Newborn; Abnormalities, Multiple; Ectromelia; Hip; Pelvis; Syndrome
PubMed: 36126198
DOI: 10.1097/PRS.0000000000009737 -
The Pan African Medical Journal 2022
Topics: Ectromelia; Forearm; Humans; Osteotomy; Tibia; Upper Extremity Deformities, Congenital
PubMed: 36060850
DOI: 10.11604/pamj.2022.42.128.35766 -
The Journal of Hand Surgery... Aug 2022Laurin-Sandrow syndrome (LSS) is an extremely rare syndrome of mirror hand and leg with less than 20 cases reported in literature. The syndrome has been attributed to a... (Review)
Review
Laurin-Sandrow syndrome (LSS) is an extremely rare syndrome of mirror hand and leg with less than 20 cases reported in literature. The syndrome has been attributed to a mutation in the MIPOL-1 (mirror-image polydactyly) gene located on locus 14q13.3-q21 coding for CCDC193 (coiled-coli domain containing 193) protein. It is characterised by limb, facial and central nervous system anomalies with the most constant being fibular dimelia with fibular ray duplication, polydactyly with secondary deformities of fixed equinus, knee joint instability and flexion deformity. It is associated less frequently with ulnar dimelia, thumb aplasia/hypoplasia, ulnar ray duplication, symbrachypolydactyly, 'rosette' hands, facial dysmorphism like hypertelorism, broad columella and flat nose, CNS anomalies like aplasia/hypoplasia of corpus callosum, hydrocephalus and muscular dystonia. We report a 2-year-old male child with LSS and perform a literature review to expound on this rare syndrome. Level V (Therapeutic).
Topics: Abnormalities, Multiple; Child; Child, Preschool; Ectromelia; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Male; Nose; Syndrome
PubMed: 35965362
DOI: 10.1142/S2424835522720389 -
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 -
The Pan African Medical Journal 2022Radial dysplasia congenital defect resulting in shortening of the forearm due to congenital shortening of the radius. Isidore Geoffroy Saint-Hilaire coined the term...
Radial dysplasia congenital defect resulting in shortening of the forearm due to congenital shortening of the radius. Isidore Geoffroy Saint-Hilaire coined the term "hemimelia" around 1836-1837. Affected individuals may also have reduced limb functions abnormalities of the soft tissues, vasculature of the forearm. The management consist of splinting, stretching, and centralization. Physical therapy management plays a vital role in regaining hand function and improving quality of life. In severe cases, surgical correction such as osteotomy. Radial hemimelia is a rare disorder with 1/5000-30,000 live birth. A 16-year-old girl was admitted to Acharya Vinoba Bhave Rural Hospital (AVBRH) with complaints of weakness of the right upper limb along with a tingling sensation from the past 1 year. She was operated on with ulnar osteotomy and physical therapy management was initiated which consists of regaining mobility and strength and making the patient functionally independent. We concluded that a well structure physical therapy protocol along with medical therapy post-surgery improved the overall status of the patient.
Topics: Adolescent; Ectromelia; Female; Humans; Quality of Life; Radius; Ulna; Upper Extremity Deformities, Congenital
PubMed: 35855028
DOI: 10.11604/pamj.2022.41.304.32909 -
Medicine Jun 2022Evaluation of clinical and radiologic abnormalities in patients with postaxial hypoplasia of the lower extremity (PHLE) for treatment decisions represents a major...
RATIONALE
Evaluation of clinical and radiologic abnormalities in patients with postaxial hypoplasia of the lower extremity (PHLE) for treatment decisions represents a major challenge, which is more complicated when PHLE is associated with congenital dislocation of the patella.
PATIENT CONCERNS
: Herein, we present the case of an 8-year-old female patient with evident length inequality in her left lower extremity and inability to walk.
DIAGNOSES
Radiological evaluation revealed PHLE with fibular hemimelia, proximal femoral focal deficiency, tarsal coalition, and congenital patellar dislocation of the patella. The right lower extremity was also affected by fibular hemimelia.
INTERVENTIONS AND OUTCOMES
Surgical management included the Roux-Goldthwait technique for patellofemoral joint realignment, a medial knee stapled with Blount technique, and femur enlargement using the Wagner technique. The results from surgical intervention included a left femoral elongation of 6.7 cm featuring callus with angulation, displacement, and a discrepancy of 5 cm between femurs with a flexor contraction in the knee of -15° and a centralized knee.
LESSON
PHLE accompanied by congenital dislocation of the patella has not been extensively described in the literature; therefore, there is no established management. Starting reconstruction at an early age, together with an adequate classification of the deformity, are essential factors when opting for limb reconstruction.
Topics: Child; Ectromelia; Female; Humans; Limb Deformities, Congenital; Lower Extremity; Patella; Patellar Dislocation
PubMed: 35758357
DOI: 10.1097/MD.0000000000029283 -
Journal of Medicine and Life Apr 2022Fibular hemimelia is defined as a partial or complete absence of the fibula. Alongside fibular deformities, there is a wide spectrum of anomalies, foot deformities, and... (Review)
Review
Fibular hemimelia is defined as a partial or complete absence of the fibula. Alongside fibular deformities, there is a wide spectrum of anomalies, foot deformities, and absent rays. A literature review showed only a handful of cases of prenatal diagnosis of fibular hemimelia. It is a rare disorder that might be isolated or associated with visceral anomalies.
Topics: Ectromelia; Female; Fibula; Humans; Pregnancy; Prenatal Diagnosis
PubMed: 35646168
DOI: 10.25122/jml-2021-0397 -
JNMA; Journal of the Nepal Medical... May 2022The complete absence of limbs is a rare occurrence. Though the causes are various, it is hard to elicit most of the time. They are usually diagnosed via anomaly scan but...
UNLABELLED
The complete absence of limbs is a rare occurrence. Though the causes are various, it is hard to elicit most of the time. They are usually diagnosed via anomaly scan but the lack of access to the same can often lead to a term presentation. It is still not uncommon to receive pregnant patients at term to the hospital or in labour as the first antenatal visit. Increasing the feasibility of the scan can help in the early diagnosis and management. Here, we report a rare combination of limb defects that we managed in a district-level hospital and highlight the difficulties in the management and referral of the patients while working in rural areas.
KEYWORDS
amelia; antenatal care; congenital limb deformities; fetal ultrasonography.
Topics: Abnormalities, Multiple; Ectromelia; Female; Humans; Limb Deformities, Congenital; Pregnancy; Prenatal Care; Ultrasonography, Prenatal
PubMed: 35633231
DOI: 10.31729/jnma.7486