INTRODUCTIONNeonatal diabetes (ND) presents below 6 months of age, and is caused by a genetic defect in glucose homeostasis. Molecular genetic diagnosis can identify the exact molecular aetiology and guide clinical management. The objective of this study was to identify ND among children with diabetes in a major children's hospital in Singapore and to characterise their molecular and clinical features.

MATERIALS AND METHODSThe study identified all infants below 6 months of age who presented with diabetes to our centre from January 2008 to December 2010. It also reviewed diabetes database comprising 662 patients, to identify those who were diagnosed with diabetes below 6 months of age between January 1997 and December 2010. Four patients (3 females and 1 male) were identified and their molecular aetiology was investigated.

RESULTSA molecular aetiology was found in each of the 4 patients identified. Two patients (Patient 1 and 2) had permanent ND (PND). Patient 1 who has KCNJ11/R201H mutation was successfully switched from insulin to oral glibenclamide and Patient 2 who has a novel mutation INS/C109Y continues to be treated with insulin. Two patients (Patient 3 and 4) had transient ND (TND) and no longer require insulin or any other intervention to maintain normoglycaemia. Patient 3 has a novel mutation ABCC8/F1182S and Patient 4 has a paternal duplication on chromosome 6q24.

CONCLUSIONThis study identified 4 cases of ND in our cohort of diabetes children and confirmed their molecular diagnosis. Molecular genetic testing for these children led to accurate diagnosis and appropriate management.

Diabetes Mellitus ; diagnosis ; Female ; Hospitals, Pediatric ; Humans ; Infant ; Infant, Newborn ; Infant, Newborn, Diseases ; diagnosis ; Male ; Molecular Diagnostic Techniques ; Singapore

A 22-year old female visited CNUH due to palpable neck mass. Cytologic examination of a fine needle aspiration was performed and the result was Pap class II. Routine chest x-ray shows solitary pulmonary nodule. For rule-out malignancy, FNA at neck mass was repeated and pathologic finding was dysplasia. She was admitted to MI department for evaluation of solitary pulmonary nodule and percutaneous needle aspiration was done. Pathologic diagnosis was adenoid cystic carcinoma. Thereafter, the lesions were treated by excisional biopsy of submandibular gland mass with left supraomohyoid neck dissection and wedge resection of right lower lobe at ENT department and thoracic and cardiovascular surgery department, respectively Final diagnosis was adenoid cystic carcinoma arising in submandibular gland with solitary lung metastasis. According to TMN staging system, surgical staging is stage IV of T2N0M1. Clinical follow-up to postoperative 13 months in this case showed that she is alive and well without evidence of recrrence.
Adenoids* ; Biopsy ; Biopsy, Fine-Needle ; Carcinoma, Adenoid Cystic* ; Diagnosis ; Female ; Follow-Up Studies ; Humans ; Lung* ; Neck ; Neck Dissection ; Needles ; Neoplasm Metastasis ; Salivary Glands* ; Solitary Pulmonary Nodule ; Submandibular Gland ; Thorax

We have experienced two cases of bacteremia in liver cirrhosis patients caused by Vibrio parahemolyticus. One presented with acute gastroenteritidis symptoms such as vomiting, diarrhea. Vibrio parahemolyticus was cultured in the blood. In the other patients showed vesicular rash in lower extremities with a positive blood culture. Both patients had been treated with intravenous fluid and antibiotics.
Anti-Bacterial Agents ; Bacteremia* ; Diarrhea ; Exanthema ; Humans ; Liver Cirrhosis* ; Liver* ; Lower Extremity ; Vibrio* ; Vomiting

We have experienced two cases of bacteremia in liver cirrhosis patients caused by Vibrio parahemolyticus. One presented with acute gastroenteritidis symptoms such as vomiting, diarrhea. Vibrio parahemolyticus was cultured in the blood. In the other patients showed vesicular rash in lower extremities with a positive blood culture. Both patients had been treated with intravenous fluid and antibiotics.
Anti-Bacterial Agents ; Bacteremia* ; Diarrhea ; Exanthema ; Humans ; Liver Cirrhosis* ; Liver* ; Lower Extremity ; Vibrio* ; Vomiting