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BMJ Case Reports Jun 2016Tibial hemimelia (congenital longitudinal deficiency of the tibia) is rare (1 in 1 000 000). There are several classifications in the literature. We report an...
Tibial hemimelia (congenital longitudinal deficiency of the tibia) is rare (1 in 1 000 000). There are several classifications in the literature. We report an unclassified case of tibial hemimelia. A 6-year-old girl presented with shortening of the right lower limb, with a small rudimentary foot (presence of all toes) and hyper lax ankle. Quadriceps function was excellent. Radiograph showed a partial tibia and fibula in synostosis. The Jones and Kalamachi type 2 classifications both mention similar tibial anomalies; however, the fibula is normal in both varieties. The present variety can be considered as a variant of type 2 tibial hemimelia.
Topics: Abnormalities, Multiple; Child; Ectromelia; Female; Fibula; Humans; Leg; Prostheses and Implants; Radiography; Synostosis; Tibia
PubMed: 27277586
DOI: 10.1136/bcr-2016-215305 -
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 -
Viruses Dec 2022In west and central Africa, monkeypox occurs mainly in older children, adolescents and young adults. In two large epidemiology studies of monkeypox outbreaks, the... (Review)
Review
In west and central Africa, monkeypox occurs mainly in older children, adolescents and young adults. In two large epidemiology studies of monkeypox outbreaks, the investigators observed a sizable number of coinfections of chickenpox (varicella) and monkeypox. Based on a review of the literature, we propose that chickenpox (human herpesvirus-3 infection) is a risk factor for acquisition of monkeypox infection. Our hypothesis states that the chickenpox skin lesion provides an entry site for the monkeypox virus, which is harbored on a fomite in the environment of the patient. The fact that monkeypox can enter via a scratch or abrasion is a known mechanism of spread for three other poxviruses, including mousepox (ectromelia), orf and molluscum contagiosum. There are many similarities in pathogenesis between certain poxviruses and chickenpox, including a viremia with a cellular stress response leading to high levels of the IL-6 cytokine. One very revealing observation in the two epidemiology studies was that the number of pox as well as the severity of disease in children with chickenpox and monkeypox coinfection was not greater than found in children with monkeypox alone. Based on the above observations, we conclude that, when chickenpox precedes monkeypox, priming of the immune system by the earlier chickenpox infection moderates the severity of the secondary infection with monkeypox. This conclusion also has important public health implications about chickenpox surveillance.
Topics: Adolescent; Young Adult; Humans; Child; Chickenpox; Mpox (monkeypox); Coinfection; Herpesvirus 3, Human; African People
PubMed: 36560805
DOI: 10.3390/v14122800 -
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 -
Journal of Medical Genetics May 1994
Topics: Abnormalities, Multiple; Bone Diseases, Developmental; Child, Preschool; Ectromelia; Femur Head Necrosis; Humans; Hydronephrosis; Legg-Calve-Perthes Disease; Male; Syndrome
PubMed: 8064826
DOI: 10.1136/jmg.31.5.423-a -
American Journal of Human Genetics Dec 2019The development of hindlimbs in tetrapod species relies specifically on the transcription factor TBX4. In humans, heterozygous loss-of-function TBX4 mutations cause...
The development of hindlimbs in tetrapod species relies specifically on the transcription factor TBX4. In humans, heterozygous loss-of-function TBX4 mutations cause dominant small patella syndrome (SPS) due to haploinsufficiency. Here, we characterize a striking clinical entity in four fetuses with complete posterior amelia with pelvis and pulmonary hypoplasia (PAPPA). Through exome sequencing, we find that PAPPA syndrome is caused by homozygous TBX4 inactivating mutations during embryogenesis in humans. In two consanguineous couples, we uncover distinct germline TBX4 coding mutations, p.Tyr113 and p.Tyr127Asn, that segregated with SPS in heterozygous parents and with posterior amelia with pelvis and pulmonary hypoplasia syndrome (PAPPAS) in one available homozygous fetus. A complete absence of TBX4 transcripts in this proband with biallelic p.Tyr113 stop-gain mutations revealed nonsense-mediated decay of the endogenous mRNA. CRISPR/Cas9-mediated TBX4 deletion in Xenopus embryos confirmed its restricted role during leg development. We conclude that SPS and PAPPAS are allelic diseases of TBX4 deficiency and that TBX4 is an essential transcription factor for organogenesis of the lungs, pelvis, and hindlimbs in humans.
Topics: Abnormalities, Multiple; Adolescent; Bone Diseases, Developmental; Child; Ectromelia; Female; Hip; Homozygote; Humans; Ischium; Loss of Function Mutation; Lung; Lung Diseases; Male; Patella; Pedigree; Pelvis; Prognosis; T-Box Domain Proteins
PubMed: 31761294
DOI: 10.1016/j.ajhg.2019.10.013 -
JNMA; Journal of the Nepal Medical... 2018Sirenomelia is primarily a congenital anomaly where a normally paired lower limb is replaced by a single midline limb and is characterized by single umbilical artery....
Sirenomelia is primarily a congenital anomaly where a normally paired lower limb is replaced by a single midline limb and is characterized by single umbilical artery. Such cases though considered rare do occur at our set-up and to make health workers aware regarding the condition, so that they can be managed well when encountered, lays the importance of reporting such case. A referred case of Sirenomelia from Dhading district hospital was presented to Emergency department of Paropakar Maternity and Women's Hospital on 6th March 2016 of 18 year "Young Primigravida at 34 week and 5 days of gestation in second stage of labor" following ultrasonography diagnosis for better management. After confirming the diagnosis, preterm vaginal delivery was performed with a live baby of 1250 gm consisting of multiple congenital anomalies and poor Apgar score. Such cases do occur at our set-up so that if anomaly scanning is done routinely, they could be picked up early and management becomes easier. Keywords: case report; ectromelia; fused legs and feet; Mermaid syndrome; Sirenomelia.
Topics: Abnormalities, Multiple; Adolescent; Ectromelia; Fatal Outcome; Female; Humans; Infant, Newborn; Oligohydramnios; Pregnancy; Ultrasonography, Prenatal
PubMed: 31065147
DOI: 10.31729/jnma.3884 -
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 -
Turk Patoloji Dergisi 2020Sirenomelia, which is also known as mermaid syndrome and characterized by the fusion of the lower extremities, is the most severe form of caudal regression syndrome and...
Sirenomelia, which is also known as mermaid syndrome and characterized by the fusion of the lower extremities, is the most severe form of caudal regression syndrome and one of the rare and lethal congenital malformations. The anomalies that might be seen in this syndrome include pelvic-sacral dysplasia, genital anomalies, bilateral pelvic renal fusion accompanied by renal dysplasia, colon atresia, unilateral umbilical artery, and imperforated anus. The incidence of sirenomelia is 0.8-1 cases in 60,000-100,000 deliveries and the male/female ratio is 2.7-3:1. The case reported in the present study was a 13-week-old male fetus 30 g in weight with a macerated appearance. The upper extremities had a relatively normal appearance but the lower extremities were conjoined and there was a single lower extremity consisting of conjoined feet and toes. In the face, the nasal bridge was sunken, the ears had a low position, and there were cleft palate and cleft lip. Examination of the external genital organs revealed that the penile part was in the anal region. There was no anus opening. The crown-rump length was 8.5cm, the heel-toe length was approx. 1cm, and the rump-heel length was approx. 3.7cm. There were none of the two kidneys, ureter, bladder, urethra, or rectum. In the umbilical cord, there were 2 venous structures, one of which was the artery. Perivillous congestion and hyperemia, perivillous calcification, deciduitis, and focal infarct regions were observed in placental tissues. This report aims to discuss this very rare case together with the literature.
Topics: Abnormalities, Multiple; Ectromelia; Female; Fetus; Humans; Male; Pregnancy
PubMed: 32525213
DOI: 10.5146/tjpath.2020.01491 -
Cell Cycle (Georgetown, Tex.) Mar 2022Cornelia de Lange syndrome (CdLS) and Roberts syndrome (RBS) are severe developmental maladies that arise from mutation of cohesin (including , CdLS) and (RBS). Though...
Cornelia de Lange syndrome (CdLS) and Roberts syndrome (RBS) are severe developmental maladies that arise from mutation of cohesin (including , CdLS) and (RBS). Though ESCO2 activates cohesin, CdLS and RBS etiologies are currently considered non-synonymous and for which pharmacological treatments are unavailable. Here, we identify a unifying mechanism that integrates these genetic maladies to pharmacologically-induced teratogenicity via thalidomide. Our results reveal that Esco2 and cohesin co-regulate the transcription of a component of CRL4 ubiquitin ligase through which thalidomide exerts teratogenic effects. These findings are the first to link RBS and CdLS to thalidomide teratogenicity and offer new insights into treatments.
Topics: Acetyltransferases; Cell Cycle Proteins; Chromosomal Proteins, Non-Histone; Craniofacial Abnormalities; DNA-Binding Proteins; De Lange Syndrome; Ectromelia; Humans; Hypertelorism; Ligases; Mutation; Receptors, Interleukin-17; Thalidomide; Ubiquitin; Ubiquitin-Protein Ligases; Cohesins
PubMed: 34989322
DOI: 10.1080/15384101.2021.2023304