A wide spectrum of the teratogenic effects of cyclophosphamide (CP) have been reported involving multiple tissues and organ systems of animals, but more population based studies may still be essential to conclusively demonstrate teratogenicity of CP in humans. However, a number of studies demonstrate that CP is a human teratogen due to its effects such as intrauterine growth retardation and mul...

Background The heterogeneity and complexity of the chronic autoimmune diseases systemic lupus erythematosus (SLE) sclerosis (SSc) necessitate comprehensive person-centred management, including non-pharmacological approaches. Recommendations for management are currently lacking. Objectives To perform a systematic literature review to inform EULAR task force recommendations/points consider adult ...

Heterozygous loss-of-function (LOF) mutations in the gene encoding the DNA-binding protein, SATB2, result in micrognathia and cleft palate in both humans and mice. In three unrelated individuals, we show that translocation breakpoints (BPs) up to 896 kb 3' of SATB2 polyadenylation site cause a phenotype which is indistinguishable from that caused by SATB2 LOF mutations. This syndrome comprises ...

Providing anesthetic care to the patient with a difficult airway keenly interests anesthesiologists and is a situation that often provokes much anxiety and trepidation. However, dealing effectively and safely with these patients is a skill that all anesthesiologists should be familiar with and are expected to perform with competency. Difficult airways arise from multiple causes. Access to the o...

We report a family with an 18p trisomic mother and two 18p tetrasomic daughters. The mother is phenotypically normal and healthy, but with an unusual type of trisomy 18p: 47,XX,del(18)(pter----p11.21),+i(18p) de novo. The older sister has microcephaly, mental retardation, an asymmetrical and peculiar face with low set ears, pinched up nose, high arched palate, small mouth, micrognathia, taperin...

BACKGROUND Prader-Willi syndrome is a rare genetic abnormality that can be challenging to diagnose early, but for which early interventions improve prognosis. METHODS To improve understanding of Prader-Willi syndrome in neonates in Asia, we retrospectively analyzed the clinical records of 20 affected newborns diagnosed in the Department of Neonatology, Guangzhou Women and Children's Medical C...

A 51-year-old patient was admitted to the University Hospital for middle ear surgery. Six years earlier the patient had undergone a thyroidectomy due to cancer, followed by radiation therapy to the neck area. Potential difficult intubation associated with post-radiation lesions was tested and revealed a mouth opening of approximately 2 cm, reduced neck mobility and highly positioned larynx resi...

he new clinical entity of takotsubo cardiomyopathy (TC) was first introduced by Sato et al in 1990,1 8 years ahead of the first report on the condition from the United States. Dote et al reported 5 cases of TC in 1991.2 “Takotsubo” is an authentic Japanese ceramic pod with a narrow mouth used to trap octopus and its shape resembles the systolic left ventriculogram of TC patients. Other names us...

We report a case of surgical treatment for Hallermann-Streiff syndrome in a patient with ocular manifestations of esotropia, entropion, and blepharoptosis. A 54-year-old man visited Yeouido St. Mary's Hospital complaining of ocular discomfort due to cilia touching the corneas of both eyes for several years. He had a bird-like face, pinched nose, hypotrichosis of the scalp, mandibular hypoplasia...

The patient (fig 1) was an 11-year-old Caucasian boy, the second child of non-consanguineous parents aged 21 and 27 at the time of his conception. His elder sister was normal and died accidentally at the age of 7 years. The outcome of the third pregnancy of the couple was an anencephalic male. The proband was born after an uneventful term pregnancy and was delivered with the aid of forceps. His...