Congenital hyperinsulinism in Gran Canaria, Canary Isles.

Introduction: Congenital hyperinsulinism (CH) is a severe disorder characterised by the appearance of severe hypoglycaemia. Pathogenic mutations in the ABCC8 and KCNJ11 genes are the most frequent cause, although its appearance also been associated to mutations in other genes (GCK, GLUD1, HADH, HNF1A, HNF4A, SLC16A1, UCP2, HK1), and with different syndromes.

Materials And Methods: Retrospective review of patients diagnosed with CH in this unit during the last 18 years (2001-2018).

Prenatal diagnosis of Greig Cephalopolysyndactyly Syndrome. When to suspect it.

Greig Cephalopolysyndactyly Syndrome (GCPS) is a very rare multiple congenital anomaly with an estimated incidence of 1-9:1,000,000 in newborns with principal findings of macrocephaly, ocular hypertelorism, and polysyndactyly (preaxial or mixed preaxial and postaxial). Very few cases of prenatal diagnoses have been reported. The postnatal diagnosis is based on clinical findings and family background.

The solitary median maxillary central incisor (SMMCI) syndrome: Associations, prenatal diagnosis, and outcomes.

Solitary median maxillary central incisor (SMMCI) syndrome is a complex disorder consisting of multiple, developmental defects involving midline structures of the head, which includes the cranial bones, the maxilla, and its container dentition (specifically the central incisor tooth germ), together with other midline structures of the body. SMMCI may appear as an isolated trait or in association with other midline developmental anomalies. We describe the case of a patient with SMMCI.

Factors Associated with Stunting among Children Aged 0 to 59 Months from the Central Region of Mozambique.

The objective of this study was to identify the major socio-demographic, health, and environmental determinants of stunting among children aged 0-59 months from the Tete province (Mozambique) and offering useful information for future healthcare strategies and interventions. A case-control study was conducted among 282 (162 boys; 120 girls) children under five years of age from the central region of Mozambique between 1 May and 3 June 2014. Children with stunting (HAZ < -2 SD according to the WHO Child Growth Standards in 2006) were considered as cases and those who had a -score < -2 SD were considered as controls.

Evaluation of family history of permanent hearing loss in childhood as a risk indicator in universal screening.

Introduction And Objective: Sixty percent of prelingual hearing loss is of genetic origin. A family history of permanent childhood hearing loss is a risk factor. The objective of the study is to determine the relationship between this risk factor and hearing loss.

[X-linked hereditary spastic paraplegia due to mutation in the L1CAM gene: three cases reports of CRASH syndrome].

Introduction: Hereditary spastic paraplegia (HSP) is a set of neurodegenerative clinical features characterised by a progressive loss of strength in the lower limbs together with spasticity. It is the result of an axonal lesion in the corticospinal tracts. Type 1, known as SPG1, is the most common form of X-linked HSP.

Stem cells protect the bronchial stump in rat, increasing Sox6, Col2a1, and Agc1 expression.

Background: Post-pneumonectomy bronchopleural fistulas (BPFs) are associated with high morbidity and mortality. Currently, since the management of BPFs is difficult to assess, the best therapeutic approach is prevention. Our objective was to evaluate the effects of adipose-derived stem cells (ASCs) on the healing of the bronchial stump in an experimental animal model.

[Three cases of Pallister-Killian syndrome].

Introduction: Pallister-Killian syndrome is characterised by intellectual disability, hypotonia, motor disability and a characteristic phenotype in which notable features include a rugged-looking face, alterations affecting the pigmentation of the skin and bitemporal alopecia. It is often associated with seizures and malformations in other organs and systems. The main cause is mosaicism for tetrasomy of chromosome 12p.

[Familial hemiplegic migraine type 2: two paediatric case reports].

Introduction: Familial hemiplegic migraine is a rare subtype of migraine with aura that includes, as it progresses, a motor defect together with visual or sensory symptoms or speech disorders. It may be associated to symptoms such as basilar migraine, coma and convulsions. Familial hemiplegic migraine type 2 accounts for 25% of them.

Up-regulation of gelatinases in the colorectal adenoma-carcinoma sequence.

Gelatinase activity has been associated with colorectal cancer (CRC) invasion and metastasis. However, it remains unresolved whether these proteases participate in early colorectal carcinogenesis. The activity of metalloproteinases (MMP) 2 and 9 were measured by zymography in 122 colorectal adenomas, 22 CRC samples, 12 hyperplasic polyps and in 114 matched normal mucosal samples from 114 patients undergoing colonoscopy.