A5060102454- Hereditary Neurological Disorders
- Pancreatitis Pathology and Treatment
- Genetic Syndromes and Imprinting
- Porphyrin Metabolism and Disorders
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Heme Oxygenase-1 and Carbon Monoxide
- Kruppel-like factors research
- Hypothalamic control of reproductive hormones
- Congenital Ear and Nasal Anomalies
- Ion Transport and Channel Regulation
- Drug-Induced Hepatotoxicity and Protection
- Terahertz technology and applications
- Electrolyte and hormonal disorders
- Folate and B Vitamins Research
- Chronic Myeloid Leukemia Treatments
- Media and Digital Communication
- Endoplasmic Reticulum Stress and Disease
- Vitamin K Research Studies
- Neurological diseases and metabolism
- Advancements in Transdermal Drug Delivery
- Cancer-related gene regulation
- Cellular transport and secretion
- Cystic Fibrosis Research Advances
- Glycogen Storage Diseases and Myoclonus
- Chronic Lymphocytic Leukemia Research
University of Coimbra
2024
Universidade do Porto
2019
Centro de Genética Clínica
2006-2018
Alström syndrome is a monogenic recessive disorder featuring an array of clinical manifestations, with systemic fibrosis and multiple organ involvement, including retinal degeneration, hearing loss, childhood obesity, diabetes mellitus, dilated cardiomyopathy (DCM), urological dysfunction, pulmonary, hepatic, renal failure. We evaluated large cohort patients for mutations in the ALMS1 gene. In total, 79 disease-causing variants were identified, which 55 are novel mutations. The primarily...
Piebaldism is a rare disorder present at birth and inherited as an autosomal dominant trait. It results from mutation in the c-kit proto-oncogene associated with defect migration differentiation of melanoblasts neural crest. Clinical manifestations phenotypic severity strongly correlates site within KIT gene. Here we report 3-year-old boy his 33-year-old father leukoderma poliosis clinical criteria for Neurofibromatosis type 1. Genetic study both revealed p.Gly610Asp This familiar has not...
We report the case of a 12-year-old girl presenting at birth with erythroderma, erosions and blisters scattered over integument. By age 3 she presented generalized hyperkeratotic plaques cobblestone pattern pungent odour, most prominently around flexures, scalp palmoplantar areas. Clinical, histological ultrastructural findings confirmed diagnosis epidermolytic hyperkeratosis (EHK). Molecular genetic analysis revealed mutation in KRT10 gene. Treatment oral acitretin was attempted but it...
Colorectal cancer (CRC) is the third most prominent worldwide, and second leading cause of death. Poor outcomes limitations current treatments fuel search for new therapeutic options. Curcumin (CUR) often presented as a safer alternative treatment with staggering number molecular targets involved in tumor initiation, promotion, progression. Despite being promising, its potential hindered due to hydrophobic nature. Hence, ongoing development optimal delivery strategies based on...
Gitelman syndrome(GS) is a rare autosomal recessive salt-losing tubulopathy of young adults, characterised by hypokalaemia, hypomagnesaemia, hypocalciuria and secondary hyperaldosteronism. Hypercalcaemia due to in these patients extremely rare.A 25-year-old healthy woman was referred the Endocrinology clinic for evaluation persistent hypokalaemia. She presented with fatigue, myalgias, cramps paraesthesia. Her physical examination normal. Laboratory workup revealed: K+ 2.7 mEq/L...
The Kallmann syndrome is characterised by the association of hypogonadotropic hypogonadism and hypo/anosmia. It represents a phenotypically genotypically heterogeneous clinical entity, with six genes identified so far in literature—KAL1, FGFR1, PROKR2, PROK2, CHD7 FGF8. Mutations FGFR1 gene can be found approximately 10% patients. authors present case female adolescent impaired olfactory acuity presence hypoplasia nasal sulcus agenesis bulbs. molecular analysis fibroblast growth factor...
Erythropoietic protoporphyria (EPP) is a rare inherited disorder of heme biosynthesis mostly caused by deficient activity the enzyme ferrochelatase (FECH), and consequent accumulation protoporphyrin (PP) in various tissues. Clinical manifestations include childhood onset, cutaneous photosensitivity and, sometimes, hepatobiliary disease. We report 16-year-old male with EPP characterized acute episodes painful since early infancy, permanent changes photoexposed skin, microcytic anemia,...
Myeloproliferative neoplasms (MPNs) are classically divided into BCR RhoGEF and GTPase activating protein (BCR)-ABL proto‑oncogene 1 non‑receptor tyrosine kinase (ABL) positive chronic myeloid leukemia (CML) BCR‑ABL negative MPNs, including essential thrombocythemia (ET). One of the major diagnostic criteria for ET is absence philadelphia chromosome, thus when present it almost indicative CML. CML considered to be mutually exclusive; however, there rare situations in which patients with...
One of the major genetic insights into pathogenesis polycythaemia vera included identification somatic point gain-of-function mutations in Janus kinase 2 gene—first JAK2V617F on exon 14, present 95%–97% cases, and later 12. In literature, we can find some reported studies where different 12 are identified. Unlike patients with mutation at is not usually associated an increase three haematopoietic series (erythrocytosis, leucocytosis thrombocytosis). It appears to be a distinct syndrome,...
O desporto faz parte de múltiplas dimensões da sociedade, o que leva a atravessar fronteiras e ultrapassar divergências, alcançando amplas camadas sociais. jornalismo desportivo é uma das especialidades mais audiência junta, porém coexiste com outras realidades, como caso promoção marca. Os canais desportivos emergiram desta tendência implementada pelos grandes clubes, acabam por assumir papel transmissores conteúdos entendidos estratégicos na sua comunicação. presente estudo debate os...
A protoporfiria eritropoiética (PPE), é uma genodermatose rara causada, na maioria dos doentes, pela redução da actividade ferroquelatase (FECH), a última enzima biossíntese do heme, e consequente acumulação de protoporfirina (PP) em vários tecidos. Os autores descrevem um adolescente 16 anos (caso índice) que sofria PPE desde infância, caracterizada por episódios agudos fotossensibilidade dolorosa nas áreas foto-expostas, alterações crónicas, anemia microcítica, trombocitopenia disfunção...