ASPHYXIA AND DEVELOPMENTAL OUTCOME IN HIGH RISK INFANTS

Asphyxia is a risk factor that is very often related to neuro-developmental issues in high risk infants and equally affects preterm and term infants, however its outcome on the developed brain differs from the outcome on the preterm brain.In preterm infants, asphyxia usually exerts a hemorrhagic or ischaemic event and periventricular leukomalacia.In term infants, asphyxia leads to cerebral edema and atrophy of the brain, which may later lead to hypoxic ischaemic encephalopathy (HIE).The number of term infants with HIE who have survived is lower than those of preterm infants, while the percentage of term infants with HIE who have neuro-developmental issues is higher. Preemies face more problems in their motor development as a result of the brain damage, while term infants suffer from encephalopathy and their cognitive abilities are more affected.We have conducted a study about the effects that asphyxia has on the developmental outcomes in high risk infants. In our study, we did a longitudinal developmental follow-up of 30 high risk infants and an evaluation of their developmental outcome using the Griffiths Mental Development Scales, from the 4th month of life until the end of the 36th month. First, we found that high risk infants had a much lower developmental outcome than the control group during the trial. Finally, we found that asphyxia makes a difference in the developmental outcome of preterm infants without asphyxia who have a very low birth weight, the preterm infants with asphyxia, and the term infants with HIE-II

Zinc Status in Beta-Thalassemia Major

BACKGROUND: Zinc is one of the most important minerals incorporated in the enzymes of the human body. Zinc may be deficient in patients with the β-thalassemia major with possible adverse outcomes. AIM: The purpose of this study was to assess the serum zinc status in β-thalassemia major patients in Duhok city. PATIENTS, MATERIAL, AND METHODS: In this case–control study, 70 children with β-thalassemia major (2–12 years) of both genders were enrolled and were matched with 70 apparently healthy children for age and sex. A venous blood sample was obtained from each child for the measurement of serum zinc and serum ferritin levels at Jin Center in Duhok City between January 1 and June 30, 2017. RESULTS: The mean serum zinc in the thalassemia patients (74.79 [±25.14] μg/dl) was significantly lower compared to the control group (93.61 [±15.12] μg/dl), (p = 0.0001). The serum zinc was not significantly different in thalassemia patients in terms of age, disease onset, gender, height, weight, body mass index, amount of blood transfusion, and type of chelation. There was a statistically significant correlation between serum zinc levels with a serum ferritin level of patients. CONCLUSION: The study showed that thalassemia patients have significantly lower serum levels of zinc with no relation to medical factors

Deferasirox Effect on Serum Ferritin in Iraq Patients with Hemoglobinopathies: A Single Center Experience

BACKGROUND: The introduction of deferasirox as an oral iron chelator for hemoglobinopathies has been hailed by many as an important milestone in the management of iron overload in the latter disorders. AIM: The objectives of the study were to evaluate the effectiveness of deferasirox in patients with hemoglobinopathies and to assess predictors of response. METHODS: In this cross-sectional study, 160 patients diagnosed with hemoglobinopathies were included retrospectively from Jin hematology and oncology center in Duhok city, Iraqi Kurdistan. The Jin center offers patients with hemoglobinopathies clinical advice, examination, follow-up, treatment, and blood transfusions. RESULTS: The median age of enrolled patients was 12 years (range 3–34 years), and included 86 females and 74 males. All patients were on deferasirox with a compliance rate of 77.5%. Furthermore, 32.3% were on concomitant deferoxamine at their last follow-up. After a median follow-up of 2.1 years (range 1–4 years), there was a mean reduction of serum ferritin level of −478.7 overall and −821.1 ng/ml in complaint patients (both being significant at p of 0.042 and 0.001, respectively). Univariate analysis revealed that older age at enrollment, and older age at starting therapy, and initial serum ferritin (>3000 ng/ml) were all significantly associated with more mean reduction in serum ferritin; while only the latter remained so by multivariate analysis (p = 0.04). CONCLUSIONS: Deferasirox was found to be effective in reducing the level of serum ferritin among this cohort of hemoglobinopathy patients, to a degree comparable to that reported in other studies worldwide. Furthermore, there were significant associations between the reduction of serum ferritin level and age, age at starting treatment, drug compliance, and the initial serum ferritin levels

Severe Encephalitis in Infant with COVID-19: A Case Report

BACKGROUND: Encephalitis is a serious condition that contains neurological dysfunction cause by inflammation of the brain tissue. Etiological factors for the occurrence of this condition include infectious and non-infectious causes. CASE REPORT: We are presented 9-month-old infant referred to our clinic in convulsive status, fever, and disturbed consciousness. From anamnestic information, the infant has been febrile for 2 days with profuse vomiting initiating just before admission at the clinic. At the moment of admission in the clinic, the infant looked intoxicated with generalized tonic-clonic seizures, with shortness of breath and fever with a weakened reaction to painful stimuli. It was admitted in the Isolation Unit by the protocol of the clinic. Laboratory investigations were done. Due to the persistence of convulsive status, a computed tomography scan of the brain was performed with the finding of enlargement of the lateral ventricles, with intraventricular masses and pronounced internal hydrocephalus. The results of severe acute respiratory syndrome coronavirus 2 (SARS-COV-2) from the infant were positive as well as the grandmother. The infant was intubated immediately and put on mechanical ventilation SIPPV. CONCLUSION: Our case report could suggest that SARS-CoV-2 infection may cause severe clinical symptoms, neurological manifestations, and encephalitis in infants

Surgical Treatment of a Seven-Year-Old Boy with Refractory Epilepsy Due to Focal Cortical Dysplasia, Case Report

The most common developmental malformation encountered in patients with refractory epilepsy is Focal Cortical Dysplasia (FCD). Malformations of cortical development, in particular FCDs are identified in 20–25% of patients with focal epilepsy, and approximately 76% of these patients are supposed to suffer from drug-resistant epilepsy. A promising therapy option for these patients could be surgical treatment. We present a seven-year-old child with drug-resistant epilepsy, who underwent surgical treatment that had an excellent outcome. Throughout the period of five years, the index patient was admitted several times to the Department of Neurology at the University Pediatrics Clinic-Skopje. He was initially admitted at the age of two years, because of his first episode of febrile seizures accompanied by diarrhea. In the following period, during the hospitalization, febrile seizures also developed. CT findings showed a slight degree of front parietal cortical reduction, while the first MRI showed a slight dysmorphia at the frontal gyri, yet no focal abnormalities. The initial EEG revealed a bihemispheric epileptogenic focus. The reason for constant treatment alterations was drug-resistance. Although some encephalographic stabilization had been achieved, a full clinical response had never been obtained for a prolonged period. At the age of seven years, a pediatric epilepsy surgical team at the University School of Medicine–ACIBADEM, Turkey, evaluated the patient. The conclusion of the team was that the child is a candidate for surgical treatment of epilepsy. The child underwent surgery at the age of eight years and has been seizure free since.Keywords: Focal Cortical Dysplasia, Epilepsy, Surgery

Евалуација на педијатриски пациенти со јувенилен идиопатски артрит третирани со биолошка терапија Тоцилизумаб (Actemra)

Juvenile idiopathic arthritis (JIA) is the most common chronic disease in childhood. It manifests a heterogenic group of symptoms of arthritis, lasting at least 6 weeks and it appears before the age of 16. Patients who had no good therapeutic response to conventional therapy with Methotrexate were treated with biological therapy. The aim of this paper was to evaluate 9 patients who were receiving Tocilizumab at the Department of Rheumocardiology, University Clinic of Pediatric Diseases in Skopje. Materials and methods: Our study included 9 patients treated at our Department with biological therapy with Tocilizumab. Prior to initiation of the biological therapy, all patients underwent laboratory investigations, purified protein derivative (PPD) skin test for tuberculosis, X ray of the lungs and heart, and analysis of hepatitis markers. All patients were treated with amp. Actemra (tocilizumab) 8 mg/kg/tt i.v. Two of the patients had a severe form of the disease (one with severe systemic form and one with severe oligoarticular form of JIA). All presented patients had clinical remission of the disease. Conclusion: Therapy with tocilizumab in patients with juvenile idiopathic arthritis is a good therapeutic choice. The results obtained in our study have shown a significant therapeutic effect of tocilizumab even in severe forms of the disease.  Јувенилниот идиопатски артрит е најчеста форма на хронично заболување во детската возраст, кое се манифестира со  хетерогена група на симптоми на артрит коишто траат најмалку 6 недели, а се појавиле пред 16-годишна возраст. Пациентите кои не дадоа добар тераписки одговор на конвенционалната терапија со Метотрексат, беа префрлени на биолошка терапија. Целта на оваа студија беше да изврши евалуација на 9 пациенти кои примаа тоцилизумаб на Одделот за реумокардиологија на Универзитетската клиника за детски болести во Скопје. Материјали и методи: Во нашата студија  беа вклучени 9 пациенти третирани на нашиот Оддел со Тоцилизумаб во период од 2010-2020 година. Кај сите пациенти пред започнување на терапијата беа направени лабораториски иследувања, прочистен протеински деривативен кожен тест за туберкулоза (ППД), РДГ на градите, и маркери за хепатит. Сите пациенти беа третирани со амп. Актемра 8мг/кг/тт и.в. Два пациента имаа тешка клиничка презентација на јувенилен идиопатски артрит (првиот со тешка системска форма на болеста, а вториот со тешка олигоартикуларна форма). Кај сите третирани пациенти настана ремисија на клиничката слика по спроведување на терапијата. Заклучок: Биолошката терапија со тоцилизумаб кај пациентите со јувенилен идиопатски артрит е добар тераписки избор. Резултатите покажаа сигнификантен тераписки ефект дури и кај потешките облици на болеста

First-line therapy in atypical hemolytic uremic syndrome: consideration on infants with a poor prognosis.

BackgroundAtypical hemolytic uremic syndrome (aHUS) is a rare and heterogeneous disorder. The first line treatment of aHUS is plasma therapy, but in the past few years, the recommendations have changed greatly with the advent of eculizumab, a humanized monoclonal anti C5-antibody. Although recent recommendations suggest using it as a primary treatment for aHUS, important questions have arisen about the necessity of immediate use of eculizumab in all cases. We aimed to draw attention to a specific subgroup of aHUS patients with rapid disease progression and high mortality, in whom plasma therapy may not be feasible.MethodsWe present three pediatric patients of acute complement-mediated HUS with a fatal outcome. Classical and alternative complement pathway activity, levels of complement factors C3, C4, H, B and I, as well as of anti-factor H autoantibody and of ADAMTS13 activity were determined. The coding regions of CFH, CFI, CD46, THBD, CFB and C3 genes were sequenced and the copy number of CFI, CD46, CFH and related genes were analyzed.ResultsWe found severe activation and consumption of complement components in these patients, furthermore, in one patient we identified a previously not reported mutation in CFH (Ser722Stop), supporting the diagnosis of complement-mediated HUS. These patients were not responsive to the FFP therapy, and all cases had fatal outcome.ConclusionTaking the heterogeneity and the variable prognosis of atypical HUS into account, we suggest that the immediate use of eculizumab should be considered as first-line therapy in certain small children with complement dysregulation

Collodion phenotype remains a challenge for neonatologists: A rare case of self‐healing collodion baby

Abstract We report a unique case of self‐healing collodion baby (CB) that was successfully managed despite the risk of potentially serious complications. Self‐healing CB is a rare and distinct outcome of collodion phenotype occurring in approximately 10% of the cases. The outcome depends on the initial assessment and adequate multidisciplinary approach

Oдносот помеѓу нивото на серумскиот прокалцитонин и ц-реактивен протеин кај новороденчиња со сепса при различни видови на респираторна поддршка во единицата за интензивна нега и терапија

Sepsis in newborns with RDSy and asphyxia is essential; it is a life-threatening condition and still represents an important cause of mortality and morbidity. The aim of this study was to evaluate the predictive values of procalcitonin (PCT) as an early diagnostic and prognostic biochemical marker for sepsis in newborns with RDS and asphyxia. Material and methods: The study was designed as prospective and we examined 110 newborns with proven sepsis admitted in the Intensive  Care Unit at the University Clinic of Pediatrics – Skopje in the period between December 2018 and Јanuary 2021. Procalcitonin levels were measured by using the immunoassay system Vidas based on the ELFA principles. The newborns with proven sepsis were divided into two groups. The first group comprised 55 newborns with RDS and proven sepsis and the second group included 55 newborns with asphyxia and proven sepsis. The statistical analysis confirmed significantly different values ​​of PCT in the analyzed time period in first group of newborns with RDS and proven sepsis, p<0.001. The highest average values (40.37±53.79) ​​were measured on admission with a high level of peak compared to the second group of newborns with asphyxia and proven sepsis. The statistical analysis confirmed significantly different values ​​of PCT in the analyzed time period in the first group of newborns with RDS and proven sepsis with mechanical ventilation (MV) and bubble continuous positive airway pressure (BCPAP) compared to the second group of newborns with asphyxia  and proven sepsis,  p<0.001. PCT is a promising sepsis marker in newborns with RDSy, capable of complementing clinical signs and routine laboratory parameters suggestive of severe infection at the time of ICU admission.  Сепсата кај новороденчиња со респираторен дистрес синдром (РДС) и асфиксија е животозагрозувачка состојба и сè уште претставува важна причина за морталитет и морбидитет. Целта на оваа студија беше да се проценат предвидувачките вредности на прокалцитонинот (ПЦТ) како ран дијагностички и прогностички биохемиски маркер за сепса кај новороденчиња со РДС и асфиксија. Студијата беше дизајнирана како проспективна и испитавме 110 новороденчиња со докажана сепса, хоспитализирани во Единицата за интензивна нега и терапија (ЕИНТ), при Универзитетската клиника за детски болести - Скопје, во периодот од декември 2018 до јануари 2021 година. Нивото на прокалцитонин беше мерено со користење на имуноанализирачкиот систем Видас базиран на ЕЛФА методот. Новороденчињата со докажана сепса беа поделени во две групи. Во првата група беа анализирани 55 новороденчиња со РДС и докажана сепса, а во втората група 55 новороденчиња со асфиксија и докажана сепса. Статистичката анализа потврди значително различни вредности на ПЦТ во анализираниот период во првата група новороденчиња со РДС и докажана сепса, p<0,001. Највисоките просечни вредности (40,37±53,79) беа измерени за време на приемот со висок пик во споредба со втората група новороденчиња со асфиксија и докажана сепса. Статистичката анализа потврди сигнификантно различни вредности на ПЦТ во анализираниот временски период кај првата група новороденчиња со РДС и докажана сепса со механичка вентилација (МВ) и bubble континуиран позитивен притисок на дишните патишта (БЦПАП), споредено со втората група новороденчиња со асфиксија и докажана сепса,  p<0,001.  ПЦТ е ветувачки маркер за сепса кај новороденчиња со РДС, кој ја надополнува клиничката презентација и рутинските лабораториски параметри кои укажуваат на тешка инфекција за време на хоспитализацијата во ЕИНТ