Parental environmental tobacco smoking and the prevalence of respiratory diseases in primary school children.

INTRODUCTION: The inhaling tobacco smoke to which a child is exposed, in a home environmental area, could affect respiratory system. MATERIAL AND METHODS: The aim of the study consists in detecting the prevalence of respiratory diseases in home exposure to secondhand smoke among primary school children. A 6-month prospective case-control study based on questionnaire survey was carried out among school children of "Spiru Haret" Primary School, Medgidia, Romania, with absences for respiratory diseases, related to exposure to parental passive smoking, in their home environmental. 136 school children and their families informed, consented to complete the questionnaire and were surveyed for respiratory diseases and domestic environmental tobacco smoking, from the 1st of October, 2011 to the 31st March, 2012. The method consists in collecting data about any respiratory illness events, correlating them with the questionnaire --reports of parental smoking in home environmental. RESULTS: Participants were divided in 88 cases exposed to SHS (E) and 48 controls without exposure (NE). The most sick children with more than one episode of respiratory illness were among cases (n = 61/88; 69.31% vs 19/48; 39.58%; OR = 3.45; RR = 1.62; chi2 = 12.25; p < 0.0008). The most important source of parental passive smoking is the father (n = 67/88; 76.13%), being a single parent in most of the cases (n = 46/88; 57.95%). The prevalence of bronchial asthma was 0.34% in cases, being related with prenatal maternal smoking exposure (1.11%). CONCLUSION: The prevalence of respiratory diseases is higher among children with environmental parental tobacco exposure, in particular, smoking father.

Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report.

BACKGROUND: Bardet-Biedl syndrome is a significant genetic cause of chronic kidney disease in children. Kidney abnormalities are a major cause of morbidity and mortality in Bardet-Biedl syndrome, but the onset of end-stage renal disease at an early age and continuous ambulatory peritoneal dialysis, however, are not commonly mentioned in the literature. CASE PRESENTATION: We present the case of a four-year-old Romanian boy who presented to our department with 'febrile seizures'. After an initial evaluation, we diagnosed our patient as having hypertension, severe anemia and end-stage renal disease. He met the major and minor criteria for the diagnosis of Bardet-Biedl syndrome and underwent continuous ambulatory peritoneal dialysis. CONCLUSIONS: Close follow-up for renal involvement in patients with Bardet-Biedl syndrome and Alström syndrome from an early age is highly recommended to prevent end-stage renal disease and so renal replacement therapy can be started immediately.

De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report.

INTRODUCTION: Kearns-Sayre syndrome is a mitochondrial myopathy that demonstrates chronic progressive ophthalmoplegia with onset before the age of 20 and pigmentary degeneration of the retina. CASE PRESENTATION: We report the case of an 18-year-old Romanian man with short stature, external ophthalmoplegia, palpebral ptosis, myopathy, sensorineural hearing impairment, cerebellar ataxia, cardiac conduction defect, diabetes mellitus, hypoparathyroidism and hyperaldosteronism. The patient's evolution showed progressive insufficiency of the renal tubule: hyperphosphaturia, hyperaminoaciduria and, later, glucosuria (de Toni-Debré-Fanconi syndrome), a syndrome, to date, rarely diagnosed in association with complete Kearns-Sayre syndrome. The final diagnosis was delayed for several years and was only established when he developed diabetes mellitus. Southern blot analysis and polymerase chain reaction amplification revealed the presence of a deletion in the mitochondrial DNA. CONCLUSION: DESPITE THE RARITY OF THIS SYNDROME, THE DIAGNOSIS WAS EASILY MADE DUE TO THE PRESENCE OF THE CLASSIC TRIAD: external ophthalmoplegia, pigmentary retinopathy and onset in a patient younger than 20 years old. In our opinion, a search for Kearns-Sayre syndrome in all patients with de Toni-Debré-Fanconi syndrome is a valuable medical routine.

Impaired IGF1-GH axis and new therapeutic options in Alström Syndrome patients: a case series.

BACKGROUND: Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.Alström syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alström Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alström syndrome. CASE PRESENTATION: The patients were hospitalized and the growth hormone stimulatory tests were made, as well as brain MRI. Insulin provocative test revealed a severe GH deficiency in these patients, defined by a peak response to insulin-induced hypoglycemia less than 3 ng/dl and IGF1 concentrations less than - 2SDS.We didn't find multiple pituitary hormone deficiency and we noticed only a severe GH deficiency in all three patients. The MRI study of the diencephalic and pituitary region was suggestive for the diagnosis of empty sella in one patient.One patient received Recombinant-GH replacement for one year with very good results, one underwent a gastric sleeve with a satisfactory outcome, one patient died due to the progression of the cardiac myopathy. CONCLUSION: Future studies are needed to assses if the substitution therapy with Recombinant Growth hormone is cost-effective and without risk in such patients with Alström Syndrome and severe insulin resistance, despite our good results in one patient. Also, careful clinical and genetic studies can contribute to a better understanding of the evolution after different therapeutical attempt in the complex disorders such as Alström Syndrome.

Cilia, Alström syndrome--molecular mechanisms and therapeutic perspectives.

Over the past ten years, several studies demonstrated the connections between cilia, basal bodies and human diseases with a wide phenotypic spectrum, including randomization of body symmetry, obesity, cystic kidney diseases and retinal degeneration. Alström syndrome (OMIM 203800) first described in 1959, is a rare autosomal recessive disorder caused by mutations in a novel gene of unknown function, ALMS1, located on the short arm of chromosome 2. Central features of Alström syndrome include obesity, insulin resistance, and type 2 diabetes. About 500 individuals with Alström syndrome are known worldwide. ALMS1 is widely expressed and localizes to centrosomes and to the base of cilia. We discuss the possible molecular mechanisms, clinical features, and future therapeutic options in a patient diagnosed with this rare disease. Monogenic defects causing human obesity actually disrupt hypothalamic pathways with a profound effect on satiety and food intake. A potential contributor to obesity- cilia with impaired function or abnormal structure, creates a new link to be studied in the future, between these organelles and the genetics of obesity.

Atypical onset of diabetes in a teenage girl: a case report.

BACKGROUND: Chorea, hemichorea-hemiballismus and severe partial seizures may be the presenting feature of nonketotic hyperglycemia in older adults with type 2 diabetes, but cases in children with type 1 diabetes are rare, since the most easily recognized symptoms of type 1 diabetes in children are secondary to hyperglycemia, glycosuria, and ketoacidosis. CASE PRESENTATION: A previously healthy 15-year-old girl presents with sudden onset of right-sided chorea. Brain CT did not detect any abnormal density areas. A T1-weighted image of brain MRI was normal. Investigations revealed hyperglycemia with absent ketones and normal serum osmolality. Achievement of normoglycemia with insulin therapy determined the involuntary movements to regress completely within a day. The direct effect of hyperglycemia could be the pathogenesis of the chorea in our patient. Severe hyperglycemia without ketosis at the clinical onset of insulin-dependent diabetes mellitus (type 1) has been reported in children and adolescents, but nonketotic hyperglycemia is an unusual cause of chorea-ballismus in children, and chorea-ballismus is also a rare manifestation of primary diabetes mellitus. CONCLUSION: The importance of clinical evaluation, laboratory testing and neuroimaging for the differential diagnostics of chorea is emphasized.