Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review.

6-pyruvoyl tetrahydropterin synthase deficiency (PTPSD) is a rare neurometabolic disease that can be diagnosed in newborn screening (NBS) and is part of the family of tetrahydrobiopterin deficiency disorders (BH4Ds). It is essential to diagnose and treat this disease early to prevent permanent neurological damage secondary to this neurotransmitter disorder. We present the first two cases of PTPSD in Romania that were genetically confirmed and treated late.

Practical Aspects of Upper Gastrointestinal Bleeding in Children.

Upper gastrointestinal bleeding (UGB) in children is a potentially life-threatening condition that represents a challenge for pediatricians and pediatric surgeons. It is defined as bleeding from any location within the upper esophagus to the ligament of Treitz. UGB can have many causes that vary with age.

A new autoimmune disease: atopic dermatitis in children.

Atopic dermatitis (AD) is mainly considered an allergy, exacerbated by allergic factors. Is there evidence to suggest the existence of autoimmune components in the pathophysiology of the illness? Studies in the literature that dealt with the occurrence of autoimmunity in children with AD were analyzed. We followed the studies published in PubMed for 10 years, from 2001 to 2021.

Food Allergy a Constant Concern to the Medical World and Healthcare Providers: Practical Aspects.

Food allergy (FA) is a condition with a growing incidence and is a constant concern for the medical world and healthcare providers. With potential symptoms including anaphylaxis, in the event of an allergic reaction the patient's life may well be endangered. The diagnosis of FA is a continuous challenge because mild cases tend to be ignored or diagnosed late and young children with allergies are cared for by parents, who are not always able to accurately interpret symptoms.

Quality of Life in Children with Juvenile Idiopathic Arthritis.

The depressive syndrome is commonly found in children suffering from chronic diseases, which is also present in patients with juvenile idiopathic arthritis (JIA). This study proposed to analyze depression's incidence in children with JIA. We also monitored the evolution of depression with the improvement of the disease under treatment.

Different Chronic Disorders That Fall within the Term Juvenile Idiopathic Arthritis.

Juvenile idiopathic arthritis (JIA) represents a significant challenge for pediatricians who intend to diagnose and treat this pathology. The classification criteria for JIA subtypes are rigid and often do not fully satisfy the possibilities of classification in the subtype. The objective of this study was to identify clearer criteria for classifying JIA subtypes.

The evaluation of heavy metals in transylvania, as predictor for the health status of the exposed population.

It is well known and proven that heavy metal contamination of the soils can severely affect the health of the people living in the contaminated areas given the ease with which trace elements can enter the human body. In addition-to agricultural crop depreciation as well as soil erosion, soil pollution can negatively affect the natural function of ecosystems. While certain heavy metals in high doses can be harmful to the body, others such as cadmium, mercury, lead, chromium, silver and arsenic in minimal amounts have delusional effects on the body, causing acute and chronic intoxication.

Unusual Presentation Of Kawasaki Disease With Gastrointestinal And Renal Manifestations.

Diagnosis of Kawasaki disease (KD) is based on well-established clinical criteria. In incomplete or atypical KD, the diagnosis is challenging, because of the paucity of clinical signs or because of the presence of clinical manifestations that generally are not seen in KD. We describe the case of a 3-year-old female patient with persistent high fever, vomiting, watery diarrhea, metabolic acidosis and severe hypopotassemia.

Investigations of cellular immunity in juvenile idiopathic arthritis.

The following was emphasised in an informative, educational issued on the American College of Rheumatology website in April 2017: "About one child in every 1000 develops some type of chronic arthritis. These disorders can affect children at any age, although rarely in the first six months of life. It is estimated that around 300,000 children in the United States have been diagnosed with the condition".

Antinuclear Antibodies: Marker of Diagnosis and Evolution in Autoimmune Diseases.

Antinuclear antibodies (ANAs) are autoantibodies that attack self-proteins within cell nucleus structures; their presence in serum may indicate an autoimmune disease. Also, positive ANA test results have been obtained in chronic infectious diseases, cancers, medication-related adverse events, and even healthy individuals. As a result, a correct interpretation of the presence of ANAs is needed.