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BackgroundThe occurrence and severity of corneal oedema after phacoemulsification is dependent on the integrity of corneal endothelial cells. The function of these cells is affected by diabetes mellitus and consequently the behaviour of the cornea in diabetic patients is of special interest.AimTo compare the frequency of corneal oedema in two age-matched groups of diabetics and non diabetic patients that underwent cataract surgery in the Ophthalmology Department of Xanthi General Hospital in Greece.MethodsA retrospective case control study was conducted in a retrospective fashion. Patients in the control and study groups were assessed regarding the severity of corneal oedema at three postoperative visits: days 1, 3–7, 10–14 after the operation. Ultrasound energy consumed during phacoemulsification was also a parameter of interest and possible correlations with the pre-existent cataract severity and the subsequent incidence of corneal oedema were investigated.ResultsThe difference in the incidence of severe corneal oedema between the study and control group was statistically significant: (4.5% non diabetics vs 14.3% diabetics). The consumed ultrasound energy did not define final clinical outcome.ConclusionsThe existence of diabetes mellitus type 2 appears to be a significant risk factor for the development of persistent corneal oedema. The results of our study led to the modification of the algorithm for postoperative follow-up of patients of this remote area of Greece.

: Congenital heart disease is present in almost 1% of live births and despite current progress in prenatal screening a significant percentage has delayed diagnosis or remain undiagnosed. A cardiac murmur may be the first or unique clinical sign of congenital heart disease in childhood, however, less than 1% of auscultated murmurs are of an organic cause. : Distinguishing between an innocent and a pathologic murmur can be challenging and the experience of the examiner is crucial for identifying the distinctive properties of an innocent murmur. Timely diagnosis of underlying cardiovascular pathology is of great significance so that prompt management is provided and morbidity or mortality are restricted. Of similar importance is the avoidance of unnecessary anxiety for the parents and unreasonable referrals to Paediatric Cardiologists. Indications for referral include a medical history suggestive of a cardiac abnormality, such as the presence of relevant symptoms, the identification of abnormal findings on clinical examination, auscultatory findings suggestive of an organic murmur, and very young patient age. ECG and a chest X-ray are not usually part of the diagnostic approach of a child with a cardiac murmur, as they do not increase the success rate of diagnosing heart disease, as compared to a detailed medical history accompanied by a thorough physical examination. : In conclusion, the recognition of suspicious distinctive features of cardiac murmurs is crucial and requires skills based on sufficient training and experience.

Donohue syndrome is a rare congenital syndrome of insulin-resistance and abnormal glucose homeostasis, caused by mutations in the insulin receptor (INSR) gene. It is characterized by specific phenotypic and clinical features and the diagnosis is based on clinical, biochemical and genetic criteria. We report 2 siblings with Donohue syndrome (cases 1, 2) with multiple clinical and biochemical characteristics. Both patients shared the same mutation and presented with intra-uterine growth restriction, failure to thrive, fasting hyperinsulinaemic hypoglycaemia and episodic post-prandial hyperglycaemia. Less common clinical features were also present, such as atrial septal defect and biventricular hypertrophy, clotting disorders, abnormal liver function tests and nephrocalcinosis. Interestingly, 2 previously unrecognized manifestations of the syndrome were also identified: severe gastrointestinal dysmotility (case 1) and exocrine pancreatic insufficiency (case 2). The co-existence of all the above clinical features makes these cases extremely rare. Gastrointestinal dysmotility should always be considered as a potentially fatal feature in patients with the syndrome, due to the complexity of the possible co-morbidities. In addition, our clinical experience for the first time suggests that pancreatic exocrine insufficiency may offer a possible explanation for the growth retardation observed in some patients with this syndrome. Our finding that replacement treatment with pancreatic enzymes improved weight gain (case 2) implies that all patients with Donohue syndrome should be investigated for exocrine pancreatic insufficiency.

Objective Hyperinsulinaemic hypoglycaemia (HH) is one of the commonest causes of hypoglycaemia in children. The molecular basis includes defects in pathways that regulate insulin release. Syndromic conditions like Beckwith‐Wiedemann (BWS), Kabuki (KS) and Turner (TS) are known to be associated with a higher risk for HH. This systematic review of children with HH referred to a tertiary centre aims at estimating the frequency of a syndromic/multisystem condition to help address stratification of genetic analysis in infants with HH. Methods We performed a retrospective study of 69 patients with syndromic features and hypoglycaemia in a specialist centre from 2004 to 2018. Results Biochemical investigations confirmed HH in all the cases and several genetic diagnoses were established. Responsiveness to medications and the final outcome following medical treatment or surgery were studied. Conclusions This study highlights the association of HH with a wide spectrum of syndromic diagnoses and that children with features suggestive of HH‐associated syndromes should be monitored for hypoglycaemia. If hypoglycaemia is documented, they should also be screened for possible HH. Our data indicate that most syndromic forms of HH are diazoxide‐responsive and that HH resolves over time; however, a significant percentage continues to require medications years after the onset of the disease. Early diagnosis of hyperinsulinism and initiation of treatment is important for preventing hypoglycaemic brain injury and intellectual disability.

Background: Type 1 diabetes mellitus (DM1), a chronic metabolic disorder of autoimmune origin, has been associated with oxidative stress (OS), which plays a central role in the onset, progression, and long-term complications of DM1. The markers of OS lipid peroxidation products, lipid hydroperoxides (LOOH), and also malondialdehyde (MDA) and thiobarbituric reactive substances (TBARS) that oxidatively modify proteins (Pr) (i.e., PrMDA and PrTBARS, respectively), have been associated with DM2, DM1, diabetic neuropathy, and microalbuminuria.Objective/Subjects: Here, we investigated LOOH, PrMDA and PrTBARS in 50 children and adolescents with DM1 and 21 controls. Results:The novel OS marker PrTBARS was assessed for the first time in children and adolescents with DM1. LOOH and the pair PrMDA/PrTBARS, representing early and late peroxidation stages, respectively, are found to be significantly higher (130%, 50/90%, respectively, at p < 0.001) in patients with DM1 compared to controls. The studied OS parameters did not differ with age, age at diagnosis, sex, duration of DM1, presence of recent ketosis/ketoacidosis, or mode of treatment. Conclusions:We propose that LOOH, PrMDA and the new marker PrTBARS could serve as potential diagnostic clinical markers for identifying OS in children and adolescents with DM1, and may, perhaps, hold promise as a prognostic tool for future complications associated with the disease.