Clinical and surgical data of affected members of a classic CFEOM 1 family

BACKGROUND: Congenital fibiosis of the extraocular muscles (CFEOM1) refers to a group of congenital eye movement disorders that are characterized by non-progressive restrictive ophthalmoplegia. We present clinical and surgical data on affected members of a classic CFEOM1 family. METHODS: Ten members of a fifteen-member, three-generation Italian family affected by classic CFEOM participated in this study. Each affected family member underwent ophthalmologic (corrected visual acuity, pupillary function, anterior segment and fundus examination), orthoptic (cover test, cover-uncover test, prism alternate cover test), and preoperative examinations. Eight of the ten affected members had surgery and underwent postoperative examinations. Surgical procedures are listed. RESULTS: All affected members were born with varying degrees of bilateral ptosis and ophthalmoplegia with both eyes fixed in a hypotropic position (classic CFEOM). The affected members clinical data prior to surgery, surgery procedures and postoperative outcomes are presented. On 14 operated eyes to correct ptosis there was an improvement in 12 eyes. In addition, the head position improved in all patients. CONCLUSIONS: Surgery is effective at improving ptosis in the majority of patients with classic CFEOM. However, the surgical approach should be individualized to each patient, as inherited CFEOM exhibits variable expressivity and the clinical features may differ markedly between affected individuals, even within the same family

Efficacy and Safety of Extracranial Vein Angioplasty in Multiple Sclerosis: A Randomized Clinical Trial

Chronic cerebrospinal venous insufficiency (CCSVI) is characterized by restricted venous outflow from the brain and spinal cord. Whether this condition is associated with multiple sclerosis (MS) and whether venous percutaneous transluminal angioplasty (PTA) is beneficial in persons with MS and CCSVI is controversial

Epidemiologia della chetoacidosi diabetica in Italia

Ketoacidosis is a potentially life-threatening complication in patients with type 1 diabetes mellitus (T1DM), particularly children. If diabetic ketoacidosis (DKA) is diagnosed late, the child risks cerebral edema, permanent neurological damage or even death. There have been only few studies of DKA in Italy. From January-May 2014 a nation-wide observational, retrospective study of DKA at diabetes onset was done by the Pediatric Diabetology Study Group (PDSG) of the Italian Society of Pediatric Endocrinology and Diabetes (ISPED), involving 76 Italian centers. DKA was defined using ISPAD criteria; 7457 new cases of T1DM were recruited from mainland Italy and the island of Sicily and 770 from Sardinia, in the period 2004-2013. On the mainland and in Sicily, DKA at diabetes onset was about 32.9% (95% CI 31.8-34.0%), and there was 6.6% (95% CI 6.02-7.20%) of the severe form. Mild and severe DKA risk was significantly higher in children aged 0-4 years; no significant temporal trend was found in the study period. Patients living in Sardinia or having a firstdegree relative with T1DM were at significantly lower risk of DKA at diabetes onset. In the ten-year study period three children died of DKA at onset and four suffered permanent neurological lesions. From November 2011-April 2012 the PDSG conducted a retrospective study based on a sample of 2025 patients with T1DM, aged 0-18 years, involving 29 national centers for pediatric diabetes. The incidence of DKA was 2.4% (IC 95% 1.8-3.1), with children older than ten years at significantly higher risk, probably due to shortages of insulin. Multiple analysis showed a higher risk of DKA in those using a rapid-acting insulin analog and in those with high HbA1c. Young mothers and low levels of education were also associated with DKA. In conclusion, although a wide network of specialized home pediatricians and pediatric diabetes centers is spread across the country, the incidence of DKA at diabetes onset is still high. Further social and health-system efforts are needed to boost awareness of this risk and to reduce damages and costs related to the complication

Asthma in patients admitted to emergency department for COVID-19: prevalence and risk of hospitalization

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