Seroprevalence of heartworm (Dirofilaria immitis) in feline and canine hosts from central and northern Portugal.

Dirofilaria immitis is endemic in Portugal. Several studies have reported the presence of canine heartworm disease, although no previous studies on feline infections have been published. The aim of this study was to determine the prevalence of D. immitis in cats and dogs from central and northern Portugal. Blood samples from 434 cats were tested for circulating anti-D. immitis and anti-Wolbachia antibodies. Furthermore, 386 dogs were tested for circulating D. immitis antigens. Overall feline seroprevalence was 15%, while canine prevalence was 2.1%. The highest feline seroprevalences of 18.7% and 17.6% were found in Aveiro and Viseu, respectively, while the highest canine prevalences of 8.8% and 6.8% were found in Coimbra and Aveiro, respectively. Cats and dogs showing respiratory signs presented higher prevalences of 24.4% and 17%, respectively, while 50% of cats with gastrointestinal signs were seropositive. The present study confirms the seropositivity of D. immitis in the feline population in central and northern Portugal, and suggests the importance of including heartworm disease in the list of differential diagnoses of cats and dogs showing clinical signs compatible with the disease.

Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.

In the last decades, nine inherited errors of the distal part of cholesterol biosynthesis have been recognized. Affected patients present complex malformation syndromes involving different organs and systems with variable degrees of severity. We report on the phenotype evolution of three patients with enzymatic defects at three distinct steps of such pathway: Smith-Lemli-Opitz syndrome, X-linked dominant chondrodysplasia punctata type 2 and congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome. The patients' natural history, from childhood to adulthood, is thoroughly described in order to contribute for a better knowledge of these diseases. Our ultimate goals are to contribute for a better characterization of the long-term course of these metabolic disorders and for the recognition of such diseases in older patients.

Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.

Smith-Lemli-Opitz syndrome (SLO) is an autosomal recessive disorder characterised by craniofacial dysmorphism, mental retardation, multiple congenital anomalies, and increased levels of 7-dehydrocholesterol (7-DHC) in body tissues and fluids. SLO is caused by mutations in the DHCR7 gene which encodes 7-dehydrocholesterol reductase, the last enzyme of cholesterol biosynthesis pathway. In our investigation, we screened 682 dysmorphic/mentally retarded Portuguese patients for abnormal levels of 7-DHC in blood by UV spectrometry. We identified six unrelated patients with SLO (0.87% of total). Mutational analysis of the DHCR7 gene led to the identification of seven distinct mutations, three of which are new (F174S, H301R, and Q98X). The common IVS8-1G > C and T93M variants together with the H301R accounted for 70% of the all SLO alleles in our population. Our findings contribute to the variegate array of pathological changes in the DHCR7 gene among different European populations.