Diagnosing Cystic Fibrosis in the 21st Century-A Complex and Challenging Task.

Cystic fibrosis (CF) is a chronic and potentially life-threatening condition, wherein timely diagnosis assumes paramount significance for the prompt initiation of therapeutic interventions, thereby ameliorating pulmonary function, addressing nutritional deficits, averting complications, mitigating morbidity, and ultimately enhancing the quality of life and extending longevity. This review aims to amalgamate existing knowledge to provide a comprehensive appraisal of contemporary diagnostic modalities pertinent to CF in the 21st century. Deliberations encompass discrete delineations of each diagnostic modality and the elucidation of potential diagnostic quandaries encountered in select instances, as well as the delineation of genotype-phenotype correlations germane to genetic counseling endeavors.

Diagnosis, Management, and Prognosis of Cystic Fibrosis-Related Liver Disease in Children.

Cystic fibrosis (CF) is a multifaceted disorder predominantly investigated for its pulmonary manifestations, yet patients with CF also exhibit a spectrum of extrapulmonary manifestations, notably those involving the hepatobiliary system. The latter constitutes the third leading cause of morbidity and mortality in individuals with CF. Cystic fibrosis-related liver disease (CFLD), with an escalating prevalence, manifests diverse clinical presentations ranging from hepatomegaly to cirrhosis and hepatopulmonary syndrome.

Diagnosis and Management of Gastrointestinal Manifestations in Children with Cystic Fibrosis.

Cystic fibrosis (CF) is primarily known for its pulmonary consequences, which are extensively explored in the existing literature. However, it is noteworthy that individuals with CF commonly display gastrointestinal (G-I) manifestations due to the substantial presence of the cystic fibrosis transmembrane conductance regulator (CFTR) protein in the intestinal tract. Recognized as pivotal nonpulmonary aspects of CF, G-I manifestations exhibit a diverse spectrum.

An Update in Cystic Fibrosis-Related Diabetes in Children and Adolescents.

This paper delineates several aspects of cystic fibrosis-related diabetes (CFRD)-a common complication of cystic fibrosis (CF). CFRD exhibits a predilection for older individuals with CF, yet it also extends its influence on children and adolescents. Scientific insights postulate a potential link between CFRD and the aberrant mucus production within the pancreas, thereby culminating in pancreatic insufficiency.

Factors Associated with Increased Risk of Urosepsis during Pregnancy and Treatment Outcomes, in a Urology Clinic.

Urosepsis is a significant cause of maternal and fetal mortality. While certain risk factors for urinary tract infections (UTIs) in pregnant women are well established, those associated with an elevated risk of urosepsis in pregnant women with upper UTIs remain less defined. This study aims to identify factors linked to an increased risk of urosepsis and examine urologic treatment outcomes in such cases.

The Community Adaptability to Changes in Rural Romania and the COVID-19 Impact.

Romanian rural villages are struggling to survive present times when youngsters leave for a better life in the city while elders work the land like a hundred years ago. Our paper integrates human environments research with public health preparedness, presenting the (Gypsy/Roma) ethnic group from rural Romania as an example to the world. The future security of mankind will require a new understanding of the human place in its environment.

Mutations of filament-aggregating protein gene in Romanian children diagnosed with atopic dermatitis.

Association of atopic dermatitis (AD) and several mutations of various genes of the immune system, in particular filament-aggregating protein gene (FLG) has been investigated in many studies. The association between defective FLG and AD in the Romanian population has not been assessed or published. The present study focused on the genetic background of AD, aiming to assess the prevalence of FLG mutations in Romanian patients with AD.

Particularities of the management and the treatment in a rare sepsis with Candida tropicalis of a Collodion baby: Case report.

Rationale: Collodion baby is a rare autosomal recessive disorder. It can be the first expression of some forms of ichthyosis.

Patient Concerns: The authors present the case of a newborn diagnosed with severe Collodion baby syndrome who required prolonged hospitalization in the intensive care unit because of infectious complications like the fungal sepsis and other bacterial superinfections.

Different evolution in the treatment of a severe persistent asthma in 2 twins: Case report and review of the literature.

Rationale: Asthma is a multifactorial disease with complex genetic inheritance. In children under the age of 5 years, the diagnosis of asthma is a challenge.

Patient Concern: We present the case of twin sisters under the same treatment for persistent asthma, but with different evolution over the time.

First Report of Pachyonychia Congenita Type PC-K6a in the Romanian Population.

Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder, with unknown prevalence, although it is estimated there are between 2,000 and 10,000 cases of PC worldwide. The International PC Research Registry (IPCRR) has currently identified (as of November 2016) 746 individuals (in 403 families) with genetically confirmed PC. Heterozygous mutations, predominantly missense mutations, in any one of five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17 cause PC.

Intertrigo Caused by Streptococcus pyogenes.

Well-demarcated, beefy-red lesions of the skin folds, without satellite lesions, are the clinical hallmarks of intertrigo, frequently misdiagnosed especially in young children. We present 6 cases of streptococcal intertrigo to draw attention to this easily diagnosed and treated, but frequently overlooked, infection.

Indications and limitations of histopathological skin investigation of Henoch-Schönlein purpura in children.

Unlabelled: Henoch-Schönlein purpura, the most common primary vasculitis of the child, may cause, in some cases with atypical clinical picture, diagnostic difficulties with a significant prognosis impact, especially when occasionally "silent" renal symptoms coexist. The purpose of our study is, on one hand, to determine the histopathological investigation needs of Henoch-Schönlein purpura in children with atypical cutaneous manifestations or incomplete forms of illness and, on the other hand, to point out the correlation between the cutaneous histopathological aspects and other clinical and biological manifestations.

Results: Optical microscopy revealed signs of leukocytoclastic vasculitis in 11 of the 22 cases with ulcerative necrotic purpura and atypical clinical picture.

[Liver involvement in celiac disease in children].

Unlabelled: Celiac disease (CD) is an autoimmune systemic enteropathy triggered by gluten intake in patients with genetic susceptibility, characterized by clinic polymorphism: classic forms, mainly with digestive features, and atypical forms, liver involvement being a part of them. In present, any unknown cytolysis requires screening serologic determinations for CD.

Aims: to assess the presence of liver manifestations in children diagnosed with CD, the outcome of liver function with gluten-free diet (GFD) and also to emphasize the importance of the immunological screening for CD in patients with unknown etiology liver dysfunctions.

[Osteopenia in children with juvenile idiopathic arthritis].

Unlabelled: The aim of the study was to evaluate the presence and etiopathogenesis of osteopenia in 41 children with Juvenile Idiopathic Arthritis (JIA).

Methods: Bone status was evaluated by quantitative ultrasound using a Sunlight Omnisense 7000s Ultrasound Bone Sonometer. Measurements were performed at the distal radius and midshaft tibia.

[Clinical and epidemiologic considerations in the role of newborn diseases causing asthma in children].

The authors present results of a multidisciplinary study in 712 children with asthma concerning the role of certain newborns events and the role of feeding in the onset of disease: resuscitation during the delivery--82.68%, respiratory distress--75.5%, Apgar score = 7 - 58.

Fencing.

Fencing is a sport in which two people attempt to score points by making their weapon (epee, foil, or saber) contact their opponent. The most common types of injury seen in fencing are weapon injuries; strains, sprains, and trauma; and nontraumatic injuries, the pathologic findings of which are discussed in this article.

[The effects of inhaled corticoids on bone density in asthmatic children].

Objective: To evaluate bone status of asthmatic children on chronic inhaled corticoid therapy.

Methods: Bone densitometry was performed by Quantitative ultrasound (QUS) of the distal radius in 74 asthmatic children, evaluating Z-score; serum levels of 25 hydroxyvitamin D were measured in 10 cases.

Results: 28 of 74 children had osteopenia, defined as Z scores lower than -1.

[Therapeutic strategy in children with Henoch-Schönlein purpura].

Henoch-Schönlein Purpura (HSP) is the most frequent childhood primary immune vasculitis which affected skin, joints, gastro-intestinal tract and kidney. Renal involvement signs the future disease prognosis. The HSP don't have etiologic treatment but its immuno-histological aspects, leukocytoclastic vasculitis with immune complexes, imposed the including in the therapeutic equation, immunosuppressive and/or cytotoxic drugs, plasmapheresis, kidney transplant (severe renal deficiency resistant to medical treatment) and surgical treatment (in severe gastro-intestinal complications).

[Pathogenic basis of treatment in children with bronchial asthma and gastroesophageal reflux].

The relationship between bronchial asthma (BA) and gastro-esophageal reflux (GER) impose to study by frequency, reciprocally prognosis and therapeutics difficulty. Coexistence of both diseases is suggested by presence of asthmatics symptoms in non-atopic patients, difficult control and resistance of the specific treatment of asthma disease, worsening of respiratory symptoms in circumstances which favored GER. Pathogenetic relationship between BA and GER in children is the result of the associations- digestive particularity and: esophago-bronchial neurogenic mechanism produced by micro-aspiration , genetic or obtained inflammations development by commune Th2 mediators, medications effects.

[Systemic lupus erythematosus in children. I: clinical and age dependent evolutive characteristics].

The individualized, retrospective study of 14 children with SLE (4-16 years) pointed out a series of clinical and age dependent evolutive characteristics. Below the age of 10 years old (lot 1:2 boys and 4 girls), SLE started as a prolonged fever syndrome (5-16 weeks) in the majority of cases; for 2 children the severe poliarthritis resistant to the AINS therapy is associated with the durable absence of the antinuclear seric antibody (ANA). For the same age group a high frequency of neurological manifestations (5/6 cases) was noticed.

[Childhood toxoplasmosis today].

The comparative study of two groups of children suffering from acquired or congenital toxoplasmosis, being in hospital during two different decades (1979-1985--39 children and 1991-1997--117 children) proved: the fact that atypical or subclinical manifestations of the acquired toxoplasmosis (54%) draws our attention to the systematic research of the infection with Toxoplasma gondii, especially at the groups with increased risk now that the frequency of the diseases generating immunodeficiency; the increased frequency of congenital toxoplasmosis (5% in the first group, 8% in the second group) and especially of the invalidating of screening tests to the pregnant women; the therapeutic arsenal limited by the rate price/toxicity/medical resistance, must be individualized for each case, taking into account the increased number of other associated diseases (chronic hepatitis B 7%, TB 17%, HIV infection 5%); Rovamicine treatment at the second group had similar results to those obtained by administrating Pirimetamine--Trimetoprim to the children from the first group.

[Clinical and therapeutical correlations in Moraxella catarrhalis respiratory infection in children].

In childhood recurrent respiratory infection with Moraxella catarrhalis have high incidence demonstrated by multiple risk factors association (atopia, immunsuppresion, chronic diseases, malnutrition) that makes this common bacteria pathogen. The study was carried on 56 children (0-16 years old). Authors try to find correlations between clinical signs and microbiological markers that determine recurrent respiratory infection with Moraxella catarrhalis.