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Birth Defects Research Jun 2017The most impressive phenotypic appearance of sirenomelia is the presence of a 180°-rotated, axially positioned, single lower limb. Associated gastrointestinal and... (Review)
Review
The most impressive phenotypic appearance of sirenomelia is the presence of a 180°-rotated, axially positioned, single lower limb. Associated gastrointestinal and genitourinary anomalies are almost always present. This rare anomaly is still the subject of ongoing controversies concerning its nosology, pathogenesis, and possible genetic etiology. Sirenomelia can be part of a syndromic continuum, overlapping with other complex conditions including caudal dysgenesis and VATER/VACTERL/VACTERL-H associations, which could all be part of a heterogeneous spectrum, and originate from an early defect in blastogenesis. It is imaginable that different "primary field defects," whether or not genetically based, induce a spectrum of caudal malformations. In the current study, we review the contemporary hypotheses and conceptual approaches regarding the etiology and pathogenesis of sirenomelia, especially in the context of concomitant conditions. To expand on the latter, we included the external and internal dysmorphology of one third trimester sirenomelic fetus from our anatomical museum collection, in which multiple concomitant but discordant anomalies were observed compared with classic sirenomelia, and was diagnosed as VACTERL-H association with sirenomelia. Birth Defects Research 109:791-804, 2017. © 2017 The Authors. Birth Defects Research Published by Wiley Periodicals, Inc.
Topics: Abnormalities, Multiple; Anal Canal; Cardiovascular Abnormalities; Digestive System Abnormalities; Ectromelia; Esophagus; Fetus; Genetic Diseases, X-Linked; Heart Defects, Congenital; Humans; Hydrocephalus; Kidney; Limb Deformities, Congenital; Musculoskeletal Abnormalities; Spine; Trachea; Urogenital Abnormalities
PubMed: 28509418
DOI: 10.1002/bdr2.1049 -
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 -
Viruses Jun 2021Ectromelia virus (ECTV), the causative agent of mousepox, has threatened laboratory mouse colonies worldwide for almost a century. Mousepox has been valuable for the... (Comparative Study)
Comparative Study
Ectromelia virus (ECTV), the causative agent of mousepox, has threatened laboratory mouse colonies worldwide for almost a century. Mousepox has been valuable for the understanding of poxvirus pathogenesis and immune evasion. Here, we have monitored in parallel the pathogenesis of nine ECTVs in BALB/cJ mice and report the full-length genome sequence of eight novel ECTV isolates or strains, including the first ECTV isolated from a field mouse, ECTV-MouKre. This approach allowed us to identify several genes, absent in strains attenuated through serial passages in culture, that may play a role in virulence and a set of putative genes that may be involved in enhancing viral growth in vitro. We identified a putative strong inhibitor of the host inflammatory response in ECTV-MouKre, an isolate that did not cause local foot swelling and developed a moderate virulence. Most of the ECTVs, except ECTV-Hampstead, encode a truncated version of the P4c protein that impairs the recruitment of virions into the A-type inclusion bodies, and our data suggest that P4c may play a role in viral dissemination and transmission. This is the first comprehensive report that sheds light into the phylogenetic and geographic relationship of the worldwide outbreak dynamics for the ECTV species.
Topics: Animals; Disease Models, Animal; Ectromelia virus; Ectromelia, Infectious; Female; Genomics; Immune Evasion; Mice; Mice, Inbred BALB C; Mice, Inbred DBA; Phylogeny; Phylogeography; Viral Proteins; Virulence
PubMed: 34203773
DOI: 10.3390/v13061146 -
Fetal and Pediatric Pathology Jun 2022Roberts syndrome is a genetic disorder characterized by tetra-phocomelia with abnormalities of ESCO2. We report a male stillborn with tetra-phocomelia and no ESCO2...
Roberts syndrome is a genetic disorder characterized by tetra-phocomelia with abnormalities of ESCO2. We report a male stillborn with tetra-phocomelia and no ESCO2 mutation. Pre- and post-natal imaging and autopsy findings included schizencephaly, phocomelia of four limbs, micrognathia, oligodactyly, and cardiopulmonary malformations. Microcephaly on pre-natal imaging was not confirmed by autopsy examination. Karyotype, prenatal chromosome microarray and ESCO2 gene testing were normal. Given the various skeletal anomalies found on autopsy and imaging evaluations, at least phenotypically, our case appeared to conform into Roberts syndrome spectrum. Since the infant did not have the mutation associated with this disorder, this infant could be labeled as the first report of a pseudo-Roberts syndrome because many of his phenotypic anomalies are characteristic of Roberts syndrome in absence of the ESCO2 gene mutation.
Topics: Acetyltransferases; Chromosomal Proteins, Non-Histone; Craniofacial Abnormalities; Ectromelia; Female; Humans; Hypertelorism; Infant; Karyotyping; Male; Pregnancy
PubMed: 33026893
DOI: 10.1080/15513815.2020.1827320 -
Acta Medica Indonesiana Apr 2016Bacterial resistance to antibiotics is a serious problem worldwide that affect the increment of morbidity and mortality rate; Enterobacteriaceae producing ESBL is one of... (Review)
Review
Bacterial resistance to antibiotics is a serious problem worldwide that affect the increment of morbidity and mortality rate; Enterobacteriaceae producing ESBL is one of the causes. However, there are still limited information regarding diagnosis and management of ESBL-E infection. Detection of ESBL-E requires certain steps that are problematic and time consuming. Diagnosis and management of ESBL-E infection have become more and more challenging due to limited diagnostic method available and choice of antibiotics that may be used, along with growing subtyped of ESBL through various of mutations. This article is aimed to give an overview on current situation of ESBL-E infections, with a focus on diagnosis and management of such infection by reviewing several recent studies on related issue.
Topics: Anti-Bacterial Agents; Enterobacteriaceae; Enterobacteriaceae Infections; Humans; Risk Factors; beta-Lactamases
PubMed: 27550887
DOI: No ID Found -
Clinical Dysmorphology Jul 2022Laurin-Sandrow syndrome also known as tetramelic mirror-image polydactyly is a rare congenital disorder characterized classically by polysyndactyly of the hands, mirror... (Review)
Review
INTRODUCTION
Laurin-Sandrow syndrome also known as tetramelic mirror-image polydactyly is a rare congenital disorder characterized classically by polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella) often associated with ulnar and/or fibular duplication. As a pathologic entity, it is heterogeneous, the patients displaying a variety of symptoms. This review aims to analyze the different aspects of the condition, such as clinical findings and methods of treatment to summarize the principal features of Laurin-Sandrow syndrome.
MATERIALS AND METHODS
The review is based on searches on PubMed, Web of Science and Researchgate of the following terms: "Laurin-Sandrow syndrome", "mirror hands", "mirror feet", "tetramelic mirror-image polydactyly", "fibular dimelia" and "ulnar dimelia". Clinical cases, reviews and original articles were included.
RESULTS
As a consequence of our findings, we suggest a modification of the Al-Qattan classification system for Mirror Hand-Multiple Hand Spectrum.
CONCLUSION
Even though it has an extremely low incidence, a thorough understanding of the syndrome enables the surgeon to choose the appropriate treatment with the ultimate goal to improve the patient's life quality.
Topics: Abnormalities, Multiple; Ectromelia; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Nose; Polydactyly
PubMed: 35256564
DOI: 10.1097/MCD.0000000000000420 -
Der Orthopade Nov 2014The congenital tibia hemimelia, also called tibial deficiency, is a rare disorder with unknown cause, showing many associated abnormalities or varying syndromes. (Review)
Review
BACKGROUND
The congenital tibia hemimelia, also called tibial deficiency, is a rare disorder with unknown cause, showing many associated abnormalities or varying syndromes.
METHODS
The correct diagnosis can be easily established using radiographs and/or magnetic resonance imaging in the postpartum setting. However, treatment may be difficult and needs to take into consideration the given anatomic situation in the knee and ankle joint.
CONCLUSION
Prosthetic fitting may be possible in mild cases. Nevertheless, the majority of patients need to undergo surgical reconstruction in order to restore a functional, mobile, and stable knee and ankle joint.
Topics: Ectromelia; Humans; Knee Joint; Osteotomy; Radiography; Plastic Surgery Procedures; Tibia
PubMed: 25209017
DOI: 10.1007/s00132-014-3017-4 -
The Veterinary Record May 2023Amelia Findon, policy and governance director, outlines BVA's new policy position on extramural studies (EMS) and our recommendations to make this valuable learning...
Amelia Findon, policy and governance director, outlines BVA's new policy position on extramural studies (EMS) and our recommendations to make this valuable learning experience sustainable and effective.
Topics: Animals; Policy; Learning
PubMed: 37288927
DOI: 10.1002/vetr.3033 -
Current Protocols in Microbiology Nov 2018Ectromelia virus (ECTV) is an orthopoxvirus that causes mousepox in mice. Members of the genus orthopoxvirus are closely related and include variola (the causative agent...
Ectromelia virus (ECTV) is an orthopoxvirus that causes mousepox in mice. Members of the genus orthopoxvirus are closely related and include variola (the causative agent of smallpox in humans), monkeypox, and vaccinia. Common features of variola virus and ECTV further include a restricted host range and similar disease progression in their respective hosts. Mousepox makes an excellent small animal model for smallpox to investigate pathogenesis, vaccine and antiviral agent testing, host-virus interactions, and immune and inflammatory responses. The availability of a wide variety of inbred, congenic, and gene-knockout mice allows detailed analyses of the host response. ECTV mutant viruses lacking one or more genes encoding immunomodulatory proteins are being used in numerous studies in conjunction with wild-type or gene-knockout mice to study the functions of these genes in host-virus interactions. The methods used for propagation of ECTV in cell culture, purification, and quantification of infectious particles through viral plaque assay are described. © 2018 by John Wiley & Sons, Inc.
Topics: Animals; Cell Line; Ectromelia virus; Mice; Viral Load; Viral Plaque Assay; Virus Cultivation
PubMed: 30281950
DOI: 10.1002/cpmc.65 -
Obstetrics and Gynecology May 2019Amelia, the complete absence of a limb, presents various management issues in pregnancy and delivery.
INTRODUCTION
Amelia, the complete absence of a limb, presents various management issues in pregnancy and delivery.
CASE
A woman with amelia of both lower limbs and flipper-like upper limb buds (phocomelia) presented in her first pregnancy at 19 weeks of gestation. Challenging issues encountered in the care of the patient included venous access, reliable blood pressure measurement, recommendations regarding mode of delivery, and preparation for caring for the child. The patient had abnormalities of the pelvis but an adequate midpelvis, so she was able to deliver vaginally without complication.
CONCLUSION
Careful planning to allow necessary modification of intrapartum management can allow for normal vaginal birth for a patient with severe limb reduction abnormalities such as amelia and phocomelia.
Topics: Adult; Ectromelia; Female; Gestational Age; Humans; Labor, Obstetric; Mothers; Pelvis; Pregnancy
PubMed: 30969202
DOI: 10.1097/AOG.0000000000003235