Use of Fibrin Glue in the Treatment of Persistent Pneumothorax in Premature Infants at the Limit of Viability: Ethical Issues and Two and A Half Years Follow-Up.

INTRODUCTION: Due to the extreme immaturity of many internal organs, including lungs, infants at the limit of viability are more predisposed to a pneumothorax (PTX). In some cases, PTX becomes persistent. Previously, only a few attempts of PTX treatment with fibrin glue were reported. However, its impact on further lung development is unknown. CASE REPORT: We present a case of an extremely preterm infant with persistent PTX who was successfully treated with fibrin glue. In addition, we present a two-and-a-half-year corrected age follow-up focusing on respiratory problems, motor development and sensory organs. Furthermore, we touch upon the related ethical issues. CONCLUSIONS: Fibrin glue should be used to treat persistent PTX even in an extremely preterm infant. No adverse effects were observed. At the two-and-a-half-year corrected age follow-up, despite severe bronchopulmonary dysplasia development, no serious pulmonary problems were observed. However, the child's development is uncertain. This situation raises important ethical issues concerning saving the lives of infants at the limit of viability.

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.

Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1-CDG. PGM1-CDG usually manifests as a multisystem disease. Most patients present as infants with cleft palate, liver function abnormalities and hypoglycemia, but some patients present in adulthood with isolated muscle involvement. Some patients develop life-threatening cardiomyopathy. Unlike most other CDG, PGM1-CDG has an effective treatment option, d-galactose, which has been shown to improve many of the patients' symptoms. Therefore, early diagnosis and initiation of treatment for PGM1-CDG patients are crucial decisions. In this article, our group of international experts suggests diagnostic, follow-up, and management guidelines for PGM1-CDG. These guidelines are based on the best available evidence-based data and experts' opinions aiming to provide a practical resource for health care providers to facilitate successful diagnosis and optimal management of PGM1-CDG patients.

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Phosphomannomutase 2 (PMM2-CDG) is the most common congenital disorder of N-glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2-CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limited to minor neurological involvement. Management of affected patients requires a multidisciplinary approach. In this article, a systematic review of the literature on PMM2-CDG was conducted by a group of international experts in different aspects of CDG. Our managment guidelines were initiated based on the available evidence-based data and experts' opinions. This guideline mainly addresses the clinical evaluation of each system/organ involved in PMM2-CDG, and the recommended management approach. It is the first systematic review of current practices in PMM2-CDG and the first guidelines aiming at establishing a practical approach to the recognition, diagnosis and management of PMM2-CDG patients.

Neuroimaging results, short-term assessment of psychomotor development and the risk of autism spectrum disorder in extremely premature infants (≤28 GA) - a prospective cohort study (preliminary report).

OBJECTIVE: Infants ≤28 GA are at particular risk of psychomotor and neurological developmental disorder. They also remain at a higher risk of developing autism spectrum disorder (ASD), characterized by persistent deficits in communication/social interactions and restricted, repetitive behaviors, activities and interests. Monitoring their development by a team of specialists (a neurologist, psychologist, psychiatrist) allows us to make an early diagnosis and to implement appropriate therapy. Neuroimaging studies during the neonatal period may be helpful in clarifying diagnosis and prognosis. Objective: The aim of the study was to search for the interrelation between the results of neuroimaging and the neurological, psychological and psychiatric evaluation at the age of 2. PATIENTS AND METHODS: Material and methods: Neonates born at ≤28 weeks between 01.06.2013 and 31.12.2015 and hospitalized at NICU were enrolled. We present the results of the first 12 children who have attained 2 years of corrected age and have undergone both neuroimaging, and neurological, psychological and psychiatric assessments. Transfontanel ultrasound was performed according to general standards, MRI between 38 and 42 weeks of corrected age. Neurological examination based on the Denver scale, ASD screening with use of the STAT test and psychological DSR assessment were performed at 2 years of corrected age. RESULTS: Results: Median GA was 26 weeks and median weight 795 g. The ultrasound examination was normal in 9 cases (75%) and MRI in 4 (33%). Abnormalities in the cerebellum were the main additional information found in MRI as compared to US. Neurological examination was normal in 8 infants (67#37;), in 4 of whom neuroimaging was normal. In 4 (33%) infants the neurological examination was abnormal. Psychomotor development at an average level or above was found in seven (58#37;) children. In 4 of them neuroimaging was normal, whereas 3 had ventricular dilatation and haemorrhagic infarct. There were no abnormalities within the cerebellum in this group. In the remaining 5 children (42#37;) psychomotor development was rated as delayed. All of them had cerebellar haemorrhage. An increased risk of ASD was observed in 4 children who developed cerebellar hemorrhage. CONCLUSION: Conclusions: 1. The use of MRI at a term-equivalent age may contribute to the prognosis of neurodevelopmental outcomes in extremely premature infants, allowing risk stratification and thus enhancing early monitoring of a child's development and functional status 2. There is a clear tendency towards abnormal psychomotor development and positive screening for ASD to co-occur with abnormal MRI findings in the cerebellum.

Recommended management of Toxoplasma gondii infection in pregnant women and their children.

Aforesaid recommendations for the management of T.gondii infection, elaborated by the group of experts, are intended for physicians of various specialties in order to standardize and facilitate diagnostic and therapeutic management. Early diagnosis of congenital toxoplasmosis, both symptomatic and asymptomatic, in neonatal period, initiation of adequate treatment and long-term, multispecialist monitoring, including multi-organ rehabilitation of children may prevent or reduce the complications of congenital toxoplasmosis. Health education, whose role is often underestimated, should be targeted mainly on girls and women at reproductive age as to prevent from infection during pregnancy.

[Clinical ocular manifestation of Patau's syndrom (trisomy 13)--own observations]. / Oczne objawy kliniczne w zespole Pataua (trisomia 13.)--obserwacje wlasne.

PURPOSE: The purpose of the article is to present the clinical abnormalities of Patau's syndrome (trisomy13). MATERIAL AND METHODS: Examination was performed on 18 months old girl with trisomy13 in which we noted characteristic malformations in ocular system. The patient underwent cataract surgery and intraocular lens implantation in right eye. In this case the diagnosis of trisomy 13 was confirmed by karyotype. RESULTS: Inferonasal iris colobomas, anterior-posterior form of persistent hyperplastic primary vitreus (PHPV), persistent tunica vasculosa lentis (PTVL), coloboma of the lens and cataract in right eye were found. Cataract surgery was performed with good results. Systemic abnormalities included heart defect, brain defect, cleft palate, small head, dysplastic ears, mental retardation, epilepsy and increased muscle tone. CONCLUSIONS: The child with the presence of inferonosal iris colobomas and cataract and with other systemic and dysmorfic findings, should have kariotype examination to look for trisomy 13.

Orbital tumor as an initial manifestation of Wegener's granulomatosis in children: a series of four cases.

BACKGROUND: Wegener's granulomatosis (WG) is a rare idiopathic disease in which small and medium-sized arteries are affected by necrotizing granulomatous inflammation. It is associated with a triad of pulmonary (cavitating granulomatous lesions with hemoptysis, cough, and dyspnea), renal (glomerulonephritis with hematuria, proteinuria), and head (otitis media, recurrent sinusitis, eye or orbital involvement) manifestations. CASE REPORT: Four children aged 7-11 years diagnosed with WG between 1995-2008 initially presented with unilateral proptosis and ptosis due to orbital tumor. CT or MRI, orbital lesion biopsy, and laboratory tests (ERS, CRP, ANCA) were part of the diagnostic workup. The diagnoses were based on correlation between clinical presentation and diagnostic findings. All four patients had orbital lesions on contrast-enhanced CT and MRI. Two had lesions of the temporal pyramid. Orbital tumor biopsies showed granulomatous lesions in two patients, necrotizing vasculitis with leukocytoclasia in three, and an orbital pseudotumor in one. ESR and CRP were positive in all. ANCA positivity was variable (c-ANCA did not allow WG diagnosis or there were atypical ANCAs). All had blood and protein in the urine, but only one had advanced renal involvement. All were treated with oral steroid and immunosuppression; remission was successful. CONCLUSIONS: WG is often more difficult to diagnose in children than in adults due to frequent absence of its signature features. The absence of the classic triad and atypical laboratory or biopsy findings do not exclude a diagnosis of WG. Orbital demonstration helps achieve early diagnosis and treatment of this potentially fatal rheumatologic disease.

[Analysis of the changes in the causes of blindness and significant vision loss among children and young adults born between 1974 and 2004]. / Analiza zimian przyczyn slepoty i znacznego pogorszenia widzenia u dzieci i mlodziezy urodzonych w latach 1974-2004.

INTRODUCTION: Visual impairment develops serious medical, psychological, social and economical problems. Thus, of most importance is improvement in prophylaxis, early diagnosis and treatment. THE AIM of this paper is to define the reasons of blindness and significant loss of vision in children and youths in Poland, and changes in them among children and youths under the age of 24, born between 1974-2004, with classification by age. SUBJECT AND METHOD: Included in the study were the records of 2,518 children and youths under the age of 24, associates of the Polski Zwiazek Niewidomych (PZN, Polish Association of the Blind); these were analyzed for the prevalence of each cause of vision loss. There were two groups. The first group were files of 1,504 students and pupils in the institutions for blind and visually impaired children, and the archives of PZN, describing the members who joined it between year 1974 and 1998. The second, comparative group, was based on files of 1,014 children and students, who joined PZN between year 1999 and 2004. Each group was also analysed within different age groups. RESULTS: The most important causes of visual impairment are: optic nerve atrophy, retinopathy of prematurity (ROP), high myopia, congenital cataract and retinal degradations. Changes in them between 1998-2004 introduce a percentage growth of optic nerve atrophy from 21.66% to 25.41% and decrement in vision degrading stages of ROP from 14.14% to 10.71%, in development disorders from 8.09% to 7.10%. There is an alarming growth in congenital toxoplasmosis percentage, from 1.06% to 2.39%, and of congenital cataract, from 3.02% to 4.47%. High myopia among the visually impaired remains at the same level. There is a big growth in the percentage of heavy (bilateral) injuries, which cause significant vision loss. Less often, the cause of serious vision damage are uveitis, secondary glaucoma and toxocariasis. CONCLUSIONS: The study conducted between 1998-2004 revealed changes in the causes of blindness and significantly vision loss in children and youths under the age of 24, as compared to a similar study conducted between 1974-1998. There is constant increase of the optic nerve atrophy as a cause of vision loss, and decrease among vision impairments caused by vision damaging stages of ROP. Cataract and congenital abnormalities are more frequent among youngest children. Cortical blindness, formerly rarely diagnosed, is becoming a significant factor. The results of our study, describing the changes in blindness and significant vision loss factors, should provide a proper rationale for developing a strategy for control of visual impairment in children and youths.

[Cataract in children--not only an ophthalmological problem]. / Zacma u dzieci--problem nie tylko okulistyczny.

Cataract is an opacity of the lens that leads to loss of vision and even blindness. It is responsible for 10.7-14% of the children who are blind. The etiology of cataract is unknown. Cataract in children can be congenital or acquired, unilateral or bilateral. Unilateral congenital cataract is an important cause of amblyopia and strabismus. Cataract can occur as an isolated disorder or as coexisting problem with other diseases. Differential diagnostics requires a number of tests regarding the patient and his relatives. The management should be complex including prophylaxis, diagnosis and treatment. The treatment is predominantly surgical with ocular rehabilitation following. In some cases, for example in some inborn errors of metabolism early prophylactic procedure and specialistic paediatric treatment are needed.

[Optic nerve atrophy--the main cause of visual impairment in children and young adults]. / Zanik nerwów wzrokowych--glówna okulistyczna przyczyna pogorszenia widzenia u dzieci i mlodziezy.

Blindness and visual disability are a very significant problem all over the world. Inflammation, metabolic disorders, tumours, hereditary optic neuropathies may all lead to visual impairment. The main cause of visual impairment and disability in children and young adults is optic nerve atrophy. THE AIM of the paper is the presentation of clinical features and treatment of nerve atrophy in children. Patients with optic nerve disorders should receive effective refraction and amblyopia treatment.

[Retinopathy of prematurity]. / Retinopatia wczesniaków.

Retinopathy of prematurity is a noteworthy problem in the ophthalmology of children. This paper presents current views on epidemiology, risk factors, pathogenesis and treatment of this disease.

[Persistent hyperplastic primary vitreous--developmental anomaly of the eye in children]. / Pierwotnie przetrwale cialo szkliste--wada rozwojowa galki ocznej u dzieci.

Persistent hyperplastic primary vitreus in children continues to be a diagnostic and therapeutic challenge for ophthalmologists. It can occur in isolation, in association with other ocular disorders and rarely as a part of systemic disorder. Characteristic features include microphthalmic eye, white vascularized retrolental tissue with or without a persistent hyaloid artery, centrally dragged ciliary processes, an anteriorly shifted and (or) swollen lens, and varing degrees of lenticular opacification. PHPF is the most common associaton with unilateral cataracts. Differential diagnosis and functional effect of treatment are discussed.

[A two-year evaluation of the development of preterm babies born in the region of Warsaw: a prospective cohort study Prematuritas]. / 2-letnia ocena rozwojyu dzieci urodzonych przedwczesnie w rejonie Warszawy: prospektywne badanie cohortowe Prematuritas.

AIM: Complex evaluation of the development of infants until the end of the second year of life, including neurological and sensory development. A prospective cohort study. POPULATION AND METHODS: 1) 264 premature babies born between 24 and 32 weeks of gestation during the period 1st of Oct 1998 and 30th of Sept 1999 in the region of Warsaw. 2) Age of examination at: 4th, 8th and 12th month of postconceptional age and 18th and 24th month of calendar age. 3) Neurological examination according to modified Denver's test, including the development of motor skills, coordination of vision and movement, speech and social contacts. Final division of development into: normal, uncertain and pathological. 4) Cerebral palsy was diagnosed according to the definition and classification proposed by the European Commission in 2002. 5) Retinopathy of prematurity (ROP): back of the eye (Fison's speculum) examination conducted from the 30th day of life, and follow-up depending of the escalation of changes. In cases of diagnosed ROP, stage 3 or 4 laser photocoagulation was performed. 6) Hearing examination: behavioral evaluation, in cases of uncertain or abnormal results ABR (auditory brain stem response) was carried out. RESULTS: 162 children participated in the examination at the age of 2, which comprises 87% of the study population. While evaluating motor and sensory development of study population at 2 years of age, normal development was seen among 88% of children, cerebral palsy of different types (with majority of serious cases) was diagnosed in 8% of children and 2 children were blind. Uncertain development was stated for 4% of children, and 1 of them was deaf. 20% of children experienced delay in speech development and hyperactivity. Among babies born before 28th week of gestational age, 2-3 times higher percentage of 3rd stage of retinopathy of prematurity (ROP) was stated in comparison with developed countries. Nevertheless, no case of blindness was observed in this group of children, which may prove effective screening and effective therapy. At the same time 65% of children with 3rd stage ROP have some problems with vision (squint, short sightedness). The incidence of bronchopulmonary dysplasia-BPD (16%) and chronic lung disease (CLD) (11%) were relatively low. However, the percentage of hospitalization among children with CLD under the age of 2, which was caused by respiratory problems, was 37% compared to 28% of children in which CLD was not diagnosed. CONCLUSIONS: 1) The incidence of cerebral palsy in our study is not different from the results of other authors and was the highest among babies born before 29 weeks of gestation. 2) In the cerebral palsy group, higher incidence of tetraplegia was found, which may be connected with higher prevalence of hemorrhagic changes (IVH grade III or IV) and hypoxic -- ischaemic changes (PVL). 3) A relationship was found between cranial ultrasound (US) at 40 weeks of postconceptional age after PLV and the child's motor development at 2 years of age: normalization in the US was connected with correct development. 4) Incidence of ROP grade 3 was stated to be three times higher compared to other authors. No case of blindness was stated, which proves effectiveness of screening and treatment procedures. 5) Only one case of deafness due to congenital malformation was found. 6) The incidence of bronchopulmonary dysplasia (BPD) and chronic lung disease (CLD) was comparable to data from developed countries. However, the percentage of hospitalization for all respiratory problems among children with CLD under the age of 2 was twice as high as in the remaining population. 7) Developmental disorders such as: hyperactivity, delay of speech and vision problems (strabismus and short sightedness) indicate the need for continued evaluation of this group of children up to school age (5-7).