S-Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy

S-Adenosylhomocysteine (AdoHcy) hydrolase deficiency has been proven in a human only once, in a recently described Croatian boy. Here we report the clinical course and biochemical abnormalities of the younger brother of this proband. This younger brother has the same two mutations in the gene encoding AdoHcy hydrolase, and has been monitored since birth. We report, as well, outcomes during therapy for both patients. The information obtained suggests that the disease starts in utero and is characterized primarily by neuromuscular symptomatology (hypotonia, sluggishness, psychomotor delay, absent tendon reflexes, delayed myelination). The laboratory abnormalities are markedly increased creatine kinase and elevated aminotransferases, as well as specific amino acid aberrations that pinpoint the aetiology. The latter include, most importantly, markedly elevated plasma AdoHcy. Plasma S-adenosylmethionine (AdoMet) is also elevated, as is methionine (although the hypermethioninaemia may be absent or nonsignificant in the first weeks of life). The disease seems to be at least to some extent treatable, as shown by improved myelination and psychomotor development during dietary methionine restriction and supplementation with creatine and phosphatidylcholine

Dinamika funkcije pluća kod azbestne bolesti

As a rule, asbestosis is a disease of workers who are occupationally exposed to inhalation of asbestos dust, leaving permanent alterations on the lung parenchyma or pleura. In our ten-year study, we investigated 318 workers with pleural asbestosis from whom we took medical history which included occupational exposure to asbestos, radiological examinations and lung function, which is mandatory for the diagnosis and the follow up of the disease. We analysed functional parameters such as forced vital capacity (FVC) and forced expiratory volume in the first second (FEV1) and intermediate forced expiratory flow at 25 % to 75 % (FEF25 %-75 %). In addition, we investigated the predicted values of functional parameters according to smoking and non-smoking habits. We found a significant reduction in vital capacity, particularly in smokers after 25 years of exposure to asbestos. During the first 15 years, values of vital capacity on the group basis remained inside the 80 % of the normal values and were not significant for assessing the dynamics of the lung function. To better assess the effects of occupational asbestos exposure, it is necessary to interpret lung function data not only on the group basis, but also for each subject individually.Azbestoza je bolest izazvana udisanjem azbestnih čestica koje ostavljaju trajne promjene na parenhimu pluća i/ili pleuri. Dijagnoza se postavlja na osnovi anamnestičkih podataka, uvidom u profesionalnu izloženost azbestu i radiološkom obradom te patohistološkom potvrdom promjena na plućima i/ili pleuri. Funkcionalna obrada pluća obavezna je u postavljanju dijagnoze i praćenju bolesti. Tijekom desetogodišnjeg istraživanja funkcionalno smo obradili 318 osoba profesionalno izloženih azbestu s dokazanom azbestozom pleure. Analizirane su vrijednosti funkcionalnih parametara, i to forsiranoga vitalnog kapaciteta (FVC), forsiranoga ekspiracijskog volumena u prvoj sekundi (FEV1) i srednjega ekspiracijskog protoka (FEF25 %-75 %). Dokazan je statistički signifikantan pad vrijednosti FVC i FEV1. Dodatno smo istražili vrijednosti funkcionalnih parametara kod naših ispitanika s navikom pušenja i nepušača. U obje skupine prisutno je značajno sniženje vrijednosti vitalnog kapaciteta tijekom istraživanja, s tim da nakon 25 godina izloženosti azbestu kod pušača dolazi do naglog pada vrijednosti vitalnog kapaciteta u odnosu na nepušače. Bitno je uočiti da tijekom prvih 15 godina vrijednosti vitalnog kapaciteta ostaju unutar 80 % normalnih vrijednosti te nemaju značenja za praćenje dinamike funkcije pluća kod azbestne bolesti. Individualnim praćenjem profesionalno izloženih radnika ostvaruje se bolji uvid u dinamiku funkcije pluća kod azbestne bolesti

Intracranial tumors in adult population of the Varaždin County (Croatia) 1996-2004: a population-based retrospective incidence study

Aim: To estimate the incidence of intracranial tumors in the adult population of the Varazdin County, Croatia, for the 1996-2004 period. - - - - - Methods: Setting: Varazdin County General Hospital and four university hospitals in Zagreb, the capital of Croatia. Study period: January 1, 1996 to December 31, 2004. Incident patients: county residents admitted for newly diagnosed intracranial tumors according to the WHO diagnostic criteria. Demographic data were extracted from the 2001 Croatian census. Incidence rates (IRs) per 100,000 person-years (p-y) and annual IRs (per 100,000 persons) were determined and compared as incidence rate ratios (IRRs) with 95% CI. - - - - - Results: For primary intracranial tumors (PITs), IR was 12.1/100,000 p-y (95% CI: 10.3-14.2), comparable in men and women. The highest incidence was recorded for glioblastoma (IR 4.8, 3.7-6.2) and meningioma (IR 3.1, 2.2-4.2). The incidence of PIT was somewhat greater than that of metastatic tumors (IRR 1.58, 95% CI: 1.22-2.05, P = 40 vs. population aged <= 39 (all IRRs with 95% CI greater than 1, P < 0.05 or < 0.001), comparable in men and women. Women were somewhat older than men at the time of diagnosis of PIT: median difference -6 years (95.1% CI: -10 to -1, P < 0.05). Annual IRs for all these tumor categories showed increasing trends over the study period. - - - - - Conclusion: Overall, there was an increasing trend in the incidence of primary intracranial tumors in the Varazdin County. Data did not allow estimation for most of the specific tumor types