A Biomechanical Investigation of Children with Type 1 Diabetes Mellitus: Are Children's Feet a Precursor to Adulthood Foot Complications?

Background: There is limited evidence on the biomechanical effects of type 1 diabetes mellitus (T1DM) on children's feet. This study aimed to determine whether children living with T1DM aged 10 to 16 years have altered foot structure and gait parameters compared with same-aged children without medical conditions.

Methods: A nonexperimental, case-control study was conducted.

A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia.

The positive regulatory (PR) domain containing 13 (PRDM13) putative chromatin modifier and transcriptional regulator functions downstream of the transcription factor PTF1A, which controls GABAergic fate in the spinal cord and neurogenesis in the hypothalamus. Here, we report a recessive syndrome associated with PRDM13 mutation. Patients exhibited intellectual disability, ataxia with cerebellar hypoplasia, scoliosis, and delayed puberty with congenital hypogonadotropic hypogonadism (CHH).

Cushing syndrome in a child due to pro-opiomelanocortin (POMC) secretion from a yolk sac tumor.

Context: Pituitary microadenomas and adrenal tumours are the most common causes for endogenous Cushing syndrome (CS) in children.

Case Description: We describe a two-year old girl with Cushing syndrome due to ectopic pro-opiomelanocortin (POMC) production from an abdominal yolk sac tumor. Cortisol concentrations were elevated but adrenocorticotropic hormone (ACTH) concentrations were equivocal.

Anticonvulsant treatment associated with intractable hypocalcaemia in a female child with hypoparathyroidism.

Background: We report the case of a female infant with hypoparathyroidism due to an activating mutation in the calcium-sensing receptor gene.

Case Report: The child presented in the neonatal period with clinical seizures associated with severe hypocalcaemia, hyperphosphataemia, low parathyroid hormone levels and elevated urine calcium:creatinine ratios. She required intravenous calcium and phenobarbitone initially, and then oral 1-alfacalcidol (1-AC) and phenobarbitone were started.

Incidence and modes of presentation of childhood type 1 diabetes mellitus in Malta between 2006 and 2010.

Aim: To assess the incidence and mode of presentation of type 1 diabetes mellitus (T1DM) in children and adolescents younger than 14 yr of age between January 2006 and December 2010 in Malta.

Methods: A nationwide prospective study which collected data from newly diagnosed T1DM children who presented to the only paediatric diabetes team available in Malta. The degree of ascertainment was estimated to be 100%.

Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations.

Background And Aims: Acanthosis nigricans (AN) has been reported in association with severe skeletal dysplasias due to activating mutations in FGFR3, including thanatophoric dysplasia, severe achondroplasia (ACH) with developmental delay and AN (SADDAN syndrome), and Crouzon syndrome with AN. There are isolated reports of patients with ACH and AN. In this series, we report clinical and biochemical data on five male patients, four with ACH and one with hypochondroplasia (HCH), who developed AN without SADDAN.

Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.

Context: Mutations within the gene encoding the pituitary-specific transcription factor POU1F1 are associated with combined pituitary hormone deficiency (CPHD). Most of the affected individuals manifest GH, prolactin, and TSH deficiency.

Objective: We have now screened 129 individuals with CPHD and isolated GH deficiency for mutations within POU1F1.