INTRODUCTIONWilliams syndrome (WS) is a rare but well recognised neurodevelopmental disease affecting the connective tissue and the central nervous system. Many patients are identified through the presence of dysmorphic features and associated cardiac abnormalities. Klinefelter syndrome (KS) is associated with gynaecomastia, small testes, azoospermia and elevated gonadotropin levels. They are recognised in the second decade of life by their tall stature and delay in pubertal development. A combination of constitutive WS and KS has yet to be described.

CLINICAL PICTUREWe report a child with these genetic aberrations, highlighting the clinical characteristics of such an individual.

CONCLUSIONThe manifestations and interactions of both conditions are also discussed.

Body Height ; Body Weight ; Child, Preschool ; Comorbidity ; Humans ; In Situ Hybridization, Fluorescence ; Klinefelter Syndrome ; diagnosis ; epidemiology ; Male ; Williams Syndrome ; diagnosis ; epidemiology

Attitude ; Education, Medical, Undergraduate ; Follow-Up Studies ; Humans ; Longitudinal Studies ; Radiology ; Students, Medical ; Surveys and Questionnaires

INTRODUCTION: Analysis of risk factors can pave the way for reducing unscheduled hospital readmissions and improve resource utilisation. METHODS: This was a concurrent nested, mixed method study. Factors associated with patients readmitted within 30 days between 2011 and 2015 at the National University Hospital, Singapore (N=104,496) were examined. Fifty patients were sampled in 2016 to inform an embedded qualitative study. Narrative interviews explored the periods of readmissions and related experiences, contrasted against those of non-readmitted patients. RESULTS: Neoplastic disease (odds ratio [OR] 1.91, 95% confidence interval [CI] 1.70-2.15), number of discharged medications (5 to 10 medications OR 1.21, 95% CI 1.14-1.29; ≥11 medications OR 1.80, 95% CI 1.66-1.95) and length of stay >7 days (OR 1.46, 95% CI 1.36-1.58) were most significantly associated with readmissions. Other factors including number of surgical operations, subvention class, number of emergency department visits in the previous year, hospital bill size, gender, age, Charlson comorbidity index and ethnicity were also independently associated with hospital readmissions. Although readmitted and non-readmitted patients shared some common experiences, they reported different psychological reactions to their illnesses and viewed hospital care differently. Negative emotions, feeling of being left out by the healthcare team and perception of ineffective or inappropriate treatment were expressed by readmitted patients. CONCLUSION Patient, hospital and system-related factors were associated with readmissions, which may allow early identification of at-risk patients. Qualitative analysis suggested several areas of improvement in care including greater empowerment and involvement of patients in care and decision making.
Hospitals ; Humans ; Length of Stay ; Patient Readmission ; Retrospective Studies ; Risk Factors

We report the first case of radical abdominal trachelectomy (RAT) and bilateral pelvic lymphadenectomy performed in Singapore, which was performed for a 35-year-old woman with stage IB1 cervical cancer, and review the current literature on this novel fertility-sparing surgery. Radical hysterectomy and pelvic lymphadenectomy are the conventional treatment for stage IB1 cervical cancer, but this results in the loss of fertility. However, the last 20 years have seen the development of fertility-sparing surgeries for young women with early-stage cervical cancer. Among these, laparoscopy-assisted radical vaginal trachelectomy (i.e. Dargent's procedure) is the most established technique, with good, documented long-term oncological and pregnancy outcomes. RAT, an alternative technique, was developed in the last decade. Although less than 200 reported cases worldwide have reported on the use of RAT, early data suggests good oncological outcome.
Adenocarcinoma ; diagnosis ; secondary ; surgery ; Adult ; Female ; Follow-Up Studies ; Humans ; Hysterectomy, Vaginal ; methods ; Laparoscopy ; methods ; Lymph Node Excision ; Lymphatic Metastasis ; Neoplasm Staging ; Pelvis ; Singapore ; Uterine Cervical Neoplasms ; diagnosis ; surgery

INTRODUCTION: Risk stratification in dilated cardiomyopathy (DCM) is imprecise, relying largely on echocardiographic left ventricular ejection fraction (LVEF) and severity of heart failure symptoms. Adverse cardiovascular events are increased by the presence of myocardial scarring. Late gadolinium enhancement (LGE) on cardiovascular magnetic resonance (CMR) imaging is the gold standard for identifying myocardial scars. We examined the association between LGE on CMR imaging and adverse clinical outcomes during long-term follow-up of Asian patients with DCM. METHODS: Consecutive patients with DCM undergoing CMR imaging at a single Asian academic medical centre between 2005 and 2015 were recruited. Clinical outcomes were tracked using comprehensive electronic medical records and mortality was determined by cross-linkages with national registries. Presence and distribution of LGE on CMR imaging were determined by investigators blinded to patient outcomes. Primary endpoint was a composite of heart failure hospitalisations, appropriate implantable cardioverter-defibrillator shocks and cardiovascular mortality. RESULTS: Of 86 patients, 64.0% had LGE (80.2% male; mean LVEF 30.1% ± 12.7%). Mid-wall fibrosis (71.7%) was the most common pattern of LGE distribution. Over a mean follow-up period of 4.9 ± 3.2 years, 19 (34.5%) patients with LGE reached the composite endpoint compared to 4 (12.9%) patients without LGE (p = 0.01). Presence of LGE, but not echocardiographic LVEF, independently predicted the primary endpoint (hazard ratio 4.15 [95% confidence interval 1.28-13.50]; p = 0.02). CONCLUSION LGE presence independently predicted adverse clinical events in Asian patients with DCM. Routine use of CMR imaging to characterise the myocardial substrate is recommended for enhanced risk stratification and should strongly influence clinical management.