Search results for "perinatology and child health"

Intermittent Dyspnea and Cyanosis in a Newborn Caused by a Hairy Polyp

2014

Anti-inflammatory medications for the treatment of pediatric obstructive sleep apnea

2020

Neuraminidase deficiency presenting as non-immune hydrops fetalis

1984

A newborn infant with oedema, ascites and hepatosplenomegaly is described. In ascites fluid foamy macrophages were found, in a liver biopsy cytoplasmic inclusions and membrane-bound vacuoles were seen. Furthermore the child excreted excessive amounts of sialic acid-rich oligosaccharides in the urine, and therefore a neurovisceral degenerative disorder was assumed. The diagnosis of sialidosis was confirmed by enzymatic assay in cultured fibroblasts, in which a complete deficiency of the lysosomal enzyme neuraminidase could be demonstrated. After recurrent septicaemias the child became dystrophic and died at the age of 6 months. Our case is compared with sialidosis observed by other authors, …

Cellular cytotoxicity against autologous hepatocytes in children with different forms of chronic hepatitis B.

1990

Cell-mediated immune reactions play the most important role in the pathogenesis of chronic viral and auto-immune hepatitis. Cellular cytotoxicity (CC) of peripheral blood lymphocytes against autologous hepatocytes isolated from liver biopsies was studied in 29 children with different types of hepatitis B surface antigen (HBsAg)-positive hepatitis. Children with chronic hepatitis B showed higher cytotoxicity than control patients. However, a correlation of cytotoxicity to serum amino-transferases, HBeAg-/Anti-HBe-status, and hepatitis B virus DNA in serum could not be found. Children with a higher percentage of hepatitis B core antigen (HBcAg) expression in their liver tissue presented lower…

Role of antibiotic prophylaxis in antenatal hydronephrosis: A systematic review from the European Association of Urology/European Society for Paediat…

2017

Summary Background The benefits and harms of continuous antibiotic prophylaxis (CAP) versus observation in patients with antenatal hydronephrosis (ANH) are controversial. Objective The aim was to determine the effectiveness of CAP for ANH, and if beneficial to determine the best type and regimen of antibiotic and the most harmful to provide guidance for clinical practice. Methods A systematic literature search was performed in databases including Medline, Embase, and Cochrane in June 2015. The protocol was prospectively registered to PROSPERO (CRD42015024775). The search started from 1980, when maternal ultrasound was first introduced into clinical practice. Eligible studies were critically…

HeterozygousFGF8mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies

2014

Background The acronym VATER/VACTERL association describes the combination of at least three of the following cardinal features: vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects. Although fibroblast growth factor-8 (FGF8) mutations have mainly found in patients with Kallmann syndrome, mice with a hypomorphic Fgf8 allele or complete gene invalidation display, aside from gonadotropin-releasing hormone deficiency, parts or even the entire spectrum of human VATER/VACTERL association. Methods We performed FGF8 gene analysis in 49 patients with VATER/VACTERL association and 27 patients …

Parenterale Ernährung in der Behandlung des Minderwuchses bei Adoleszenten mit Morbus Crohn

1992

Growth retardation and delayed puberty occur in 20-35% of children and adolescents with Crohn's disease. Alternate day corticosteroid treatment, use of azathioprine, enteral or parenteral hyperalimentation and surgery have been advocated to reverse growth failure. Because of nonacceptance of elemental diet 7 patients with Crohn's disease and growth retardation received parenteral nutrition for 2-3 months (maximal for more than 30 months in one patient). All of them exhibited a mean weight gain of 10 kg and a mean increase of their height velocity from 2.4 to 7.1 cm/year. Main problems were bacterial infections and dislocations of the central lines. Surgery was performed in 3 adolescents imm…

Adequate Training and Multidisciplinary Support May Assist Pediatricians in Properly Handling and Managing Gender Incongruence and Dysphoria.

2022

What we call “sexual identity” refers to the complex relationship between biological sex, gender identity and role, and sexual orientation.1 “Gender identity” means the unified and persistent perception of oneself as belonging to the male or the female gender or ambivalent. For many, gender identity coincides with sexual identity; traditional culture has long provided for the definition of only 2 genders, corresponding to the 2 biological sexes. The person with gender incongruence experiences a disharmony between biological aspects and gender identity, with the constant awareness that he or she belongs to the opposite gender and is imprisoned in a body that does not represent him or her. Ge…

Extracerebral biopsies in neurodegenerative diseases of childhood

1999

Abstract Among the numerous neurodegenerative diseases in children few may allow morphological diagnosis by extracerebral biopsy. These encompass neurometabolic conditions, foremost lysosomal disorders, but also peroxisomal and mitochondrial diseases marked by disease- or group-specific organelles. Largely, these neurometabolic conditions can also be diagnosed by biochemical and increasingly by molecular genetic techniques. However, there are a few neurodegenerative diseases which do not allow either biochemical or molecular genetic diagnosis and, thus, rely on biopsy of extracerebral tissues, so-called ‘essential’ biopsies to achieve a diagnosis during the patient's life. Among these few d…

VP7 and VP4 Sequence Analyses of Rotavirus Strains From Italian Children With Viraemia and Acute Diarrhoea

2010

Background: Rotavirus has a high genetic variability. Point mutations, accumulating at a high rate, and genetic reassortment events have been well-documented. Viremia occurs commonly in children with acute rotavirus diarrhoea. However, information on genetic characterization of strains associated with systemic infection is poor. Objective: We evaluated prospectively children hospitalized for acute rotavirus diarrhoea and genotyped strains obtained from blood and stool samples. Nucleotide sequences within the VP4 ad VP7 genes of strains obtained from blood and stool specimens of the same patient were compared. Methods: Study subjects were 11 children admitted with acute rotavirus diarrhoea, …