Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 5 de 5
Filter
Add more filters










Database
Publication year range
1.
Gastroenterol Hepatol ; : 502228, 2024 Jul 08.
Article in English, Spanish | MEDLINE | ID: mdl-38986841

ABSTRACT

BACKGROUND: Gallstone disease (GD) is no longer an exclusive condition of adulthood, and its prevalence is increasing in pediatric age. The management and the extent of the etiological investigation of GD in children and adolescents remains controversial. This aimed to analyze the difficulties in the work-up and management of pediatric GD patients. METHODS: A retrospective study performed in a single tertiary center enrolled sixty-five patients with GD followed from January 2014 to June 2021. Patients were categorized conveniently according to their age at diagnosis: Group A (< 10 years, n = 35) and Group B (≥ 10 years, n = 30). We analyzed demographic, clinical and laboratory data, ultrasonographic findings at presentation, therapeutics and complications. RESULTS: Symptoms were more frequent in patients > 10 years old (p = 0,001). Cholecystectomy was performed in 31 patients (47,7%). A multivariate regression logistic model identified the age > 10 years (OR = 6.440, p = 0.005) and underlying entities (OR = 6.823, p = 0.017) as independent variables to perform surgery. Spontaneous resolution of GD was more common in children < 2 years old. A multivariate regression logistic model showed a trend for those > 10 years old to develop more complications. Two out of 18 patients were diagnosed with ABCB4 gene mutations in heterozygosity. CONCLUSIONS: Decision-making on cholecystectomy remains challenging in asymptomatic patients. Identifying predictive factors for the development of complications has proven difficult. However, we found a trend toward the development of complications in individuals older than 10 years.

2.
J Clin Pharmacol ; 64(1): 103-110, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37611322

ABSTRACT

The therapeutic approach to inflammatory bowel disease (IBD) is complex, often involving multiple pharmacologic classes. We aimed to evaluate the prevalence of drug-related adverse reactions (ARs) associated with therapies used in pediatric IBD. We conducted a retrospective study of pediatric patients with IBD followed in a tertiary hospital from 2010 to 2022. Ninety-nine patients were included (62.6% were male), with a median age at diagnosis of 13 years (interquartile range [IQR] 11-15 years). The majority had Crohn's disease (69.7%), followed by ulcerative colitis (21.2%) and unclassified IBD (9.1%). The most prescribed therapies were: immunomodulators (n = 75, 75.8%), exclusive enteral nutrition (n = 61, 61.6%), and biologics (n = 58, 58.6%). During a median follow-up time of 31 months (IQR 11-51 months), the incidence of ARs was 16.2% (16 ARs occurred in 14 patients). The main drug involved was azathioprine (12/16) and the most frequent AR was hepatitis (5/16). Drug discontinuation was necessary in all but 1 case. Of the ARs recorded, 75% were mild to moderate and 81.3% did not require specific treatment; all patients had clinical and/or analytical normalization. There was a positive association between the cumulative number of prescribed drugs and the occurrence of ARs (P = .044). The incidence of ARs was similar to the rates reported in the few existing previous studies. The majority of ARs were mild, but implied the discontinuation of therapy or dose reduction, with a possible impact on disease control.


Subject(s)
Colitis, Ulcerative , Crohn Disease , Drug-Related Side Effects and Adverse Reactions , Inflammatory Bowel Diseases , Humans , Male , Child , Adolescent , Female , Retrospective Studies , Inflammatory Bowel Diseases/drug therapy , Colitis, Ulcerative/drug therapy , Crohn Disease/drug therapy , Azathioprine/adverse effects , Drug-Related Side Effects and Adverse Reactions/epidemiology
3.
Eur Endocrinol ; 16(1): 66-68, 2020 Apr.
Article in English | MEDLINE | ID: mdl-32595772

ABSTRACT

Co-occurrence of hyperinsulinaemic hypoglycaemia and polycystic kidney disease (HIPKD) has been recently described. It is caused by a non-coding variant in the promoter region for phosphomannomutase 2 (PMM2), c.-167G>T, both in homozygous or compound heterozygous variants with deleterious coding. Although PMM2 has been associated with congenital disorder of glycosylation, patients do not present with this phenotype and have normal carbohydrate-deficient transferring testing. The authors present a rare case where specific PMM2 study was performed as a result of clinical suspicions. The patient was a 6-year-old female followed at our clinic due to congenital hyperinsulinism since she was 1 month old. She also presented with bilateral polycystic kidneys, detected in prenatal set, and simple hepatic cysts, for which she was treated with diazoxide and captopril. Initial metabolic and genetic studies were normal. PMM2 gene sequence study revealed the promotor variant c.-167G>T in compound heterozygosity with the previously described pathogenic variant c.422G>A (p.Arg141His), confirming the diagnosis of HIPKD. This is a notable case as it highlights the importance of keeping this diagnostic hypothesis in mind and serves as a reminder to perform proper clinical and genetic investigation. A correct, and early, diagnosis will avoid unnecessary additional investigations and will allow appropriate genetic counselling for this autosomal recessive disorder.

4.
Am J Hum Genet ; 95(3): 275-84, 2014 Sep 04.
Article in English | MEDLINE | ID: mdl-25132448

ABSTRACT

Notch signaling determines and reinforces cell fate in bilaterally symmetric multicellular eukaryotes. Despite the involvement of Notch in many key developmental systems, human mutations in Notch signaling components have mainly been described in disorders with vascular and bone effects. Here, we report five heterozygous NOTCH1 variants in unrelated individuals with Adams-Oliver syndrome (AOS), a rare disease with major features of aplasia cutis of the scalp and terminal transverse limb defects. Using whole-genome sequencing in a cohort of 11 families lacking mutations in the four genes with known roles in AOS pathology (ARHGAP31, RBPJ, DOCK6, and EOGT), we found a heterozygous de novo 85 kb deletion spanning the NOTCH1 5' region and three coding variants (c.1285T>C [p.Cys429Arg], c.4487G>A [p.Cys1496Tyr], and c.5965G>A [p.Asp1989Asn]), two of which are de novo, in four unrelated probands. In a fifth family, we identified a heterozygous canonical splice-site variant (c.743-1 G>T) in an affected father and daughter. These variants were not present in 5,077 in-house control genomes or in public databases. In keeping with the prominent developmental role described for Notch1 in mouse vasculature, we observed cardiac and multiple vascular defects in four of the five families. We propose that the limb and scalp defects might also be due to a vasculopathy in NOTCH1-related AOS. Our results suggest that mutations in NOTCH1 are the most common cause of AOS and add to a growing list of human diseases that have a vascular and/or bony component and are caused by alterations in the Notch signaling pathway.


Subject(s)
Abnormalities, Multiple/genetics , Ectodermal Dysplasia/genetics , Ectodermal Dysplasia/pathology , Limb Deformities, Congenital/genetics , Limb Deformities, Congenital/pathology , Mutation/genetics , Receptor, Notch1/genetics , Scalp Dermatoses/congenital , Adolescent , Adult , Animals , Child, Preschool , Female , Humans , Infant , Male , Mice , Pedigree , Scalp Dermatoses/genetics , Scalp Dermatoses/pathology , Young Adult
5.
Am J Med Genet A ; 158A(3): 648-51, 2012 Mar.
Article in English | MEDLINE | ID: mdl-22307742

ABSTRACT

Adams-Oliver syndrome (AOS) is a rare condition defined by combination of cutis aplasia and transverse limb abnormalities. Some authors have described a possible association between this syndrome and portal hypertension (PH) due to hepatoportal sclerosis (HPS). We present a boy with AOS who developed a progressive splenomegaly and hypersplenism at the age of 2 months, and was admitted for acute gastrointestinal bleeding (GI) at the age of 9 months. Subsequently, we documented an extrahepatic portal vein obstruction and esophageal varices. After several episodes of cataclysmic upper GI bleeding a mesentero-portal shunt (MPS) was performed at 10 months. The shunt thrombosed, and after three failed attempts of thrombectomy, it was removed. One month later a splenorenal shunt was performed, and this closed spontaneously by 3 years. The patient suffered from ischemic stroke after placing the first shunt, and has spastic diplegia, left frontal lobe epilepsy, hyperactivity and attention deficit disorder, and severe psychomotor delay. At 11 years and he presented with chronic liver failure and hyperammonemia and coagulopathy. We hypothesize that there may be an early embryonic vascular abnormality (vascular disruption) that may explain these vascular phenomena.


Subject(s)
Ectodermal Dysplasia/complications , Hypertension, Portal/complications , Limb Deformities, Congenital/complications , Scalp Dermatoses/congenital , Humans , Infant, Newborn , Scalp Dermatoses/complications
SELECTION OF CITATIONS
SEARCH DETAIL
...