Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotype.

Peroxisome Biogenesis Disorders-Zellweger spectrum disorder (PBD-ZSD) is a rare, autosomal recessive peroxisome biogenesis disorder that presents with variable symptoms. In patients with PBD-ZSD, pathogenic variants in the PEX family of genes disrupt normal peroxisomal function, impairing α- and β-oxidation of very-long-chain fatty acids and synthesis of bile acids, resulting in increased levels of toxic bile acid intermediates and multisystem organ damage. The spectrum of severity in PBD-ZSD is variable, with some patients dying in the first year of life, while others live into adulthood.

Bile Acid Synthesis Disorder Masquerading as Intractable Vitamin D-Deficiency Rickets.

Vitamin D-deficiency rickets, not responding to large treatment doses of oral vitamin D, suggest rare receptor mutations, malabsorption, or hepatobiliary dysfunction. We present a set of twins of Hispanic origin who presented with refractory vitamin D-deficiency rickets and failure to thrive (FTT) at 6 months of age. On follow-up, mild elevations in serum alanine transaminases and normal aspartate aminotransferase were noted.

Small intestine polypoid arteriovenous malformation: a stepwise approach to diagnosis in a paediatric case.

We report a case of acute gastrointestinal haemorrhage due to a small intestine polypoid arteriovenous malformation (AVM) in a patient with a remote history of obscure gastrointestinal bleeding (OGIB) 8 years earlier. The diagnosis of a small intestine AVM was made using video capsule endoscopy (VCE) and confirmed using single-balloon push enteroscopy. The lesion was marked with submucosal tattoo to aid in subsequent surgical resection of the lesion with primary duodenoduodenostomy.

Telehealth distance education course in Latin America: analysis of an experience involving 15 countries.

Background: Telehealth activities are already going on in many Latin American countries. This article aims to present and evaluate a distance learning telehealth training course in the region.

Materials And Methods: This was a cross-sectional descriptive study.

Mycophenolate mofetil-related enterocolitis and weight loss: a pediatric case series.

Mycophenolate mofetil (MMF) is an immunosuppressive medication utilized in the management of both autoimmune and solid organ transplant patients. Diarrhea is a common gastrointestinal side effect of MMF, but more severe forms of GI symptoms are described in renal transplant patients with a distinct pattern of histopathologic change, similar to graft-versus-host disease or Crohn's disease. This rare entity, commonly referred to as "MMF-related enterocolitis," has been described in adult patients, mostly in renal transplant patients, and in only two pediatric renal transplant patients.

Assessment of hearing in a municipal public school student population.

Unlabelled: Children need good hearing for adequate learning. Hearing screening in students is important because it allows cases that go unnoticed by the family may be detected.

Aim: To evaluate hearing in children aged 4-15 years--public school students from pre-first to the fifth grade in the city of Cabedelo, Paraíba state.

[Probiotics in allergic rhinitis].

Probiotics are live microorganisms used as supplementary food, usually lactic acid bacteria that can change either the composition and/or the metabolic activities of the gut microbiota modulating the immune system in a way that benefits the person's health. to review the use of Probiotics (Lactobacillus and Bifidobacterium) in allergic rhinitis patients. Pubmed original articles were used as data source.

Rituximab therapy for severe refractory chronic Henoch-Schönlein purpura.

To report on the efficacy of rituximab (RTX) therapy in standard treatment-refractory, chronic Henoch-Schönlein purpura, a retrospective chart review of 3 pediatric patients treated with RTX for severe refractory chronic Henoch-Schönlein purpura was performed. All 3 patients responded to 1 or 2 courses of RTX without serious adverse events.

Identification and antimicrobial susceptibility of acute external otitis microorganisms.

Unlabelled: Acute external otitis is a polymicrobial infectious disease.

Aim: The purpose of this study was to isolate, identify and determine the Antimicrobial susceptibility of organisms causing otitis externa (OE).

Methods: Twenty-seven swabs were taken from the ears of 27 patients with OE for culture and 22 microorganisms were isolate to evaluate sensitivity.

In vitro antimicrobial activity of plants in Acute Otitis Externa.

Unlabelled: Acute Otitis Externa is an inflammation of the outer auditory meatus, and according to popular saying, medicinal plant extracts can be used in its treatment.

Aim: to assess the in vitro antimicrobial activity of the following plants: Aleolanthus suaveolens; Caryophyllus aromaticus; Cymbopogon citratus; Matricaria chamomila; Pithecellobium avaremotemo; Plectranthus amboinicus and Ruta graveolens on the germs that cause otitis externa.

Materials And Methods: the minimum inhibitory concentration of extracts and oils from these plants was obtained from otitis externa samples.