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    Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype
    (Wiley, 2010-09)
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    S Koceva
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    Marinaki, Anthony
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    Fairbanks, Lynette
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    MOST COMMON FACTORS AFFECTING OCCURRENCE OF NEONATAL SEPSIS - CHALLENGE AND EXPERIENCE FOR TREATMENT AT NEONATAL INTENSIVE CARE UNIT
    (Macedonian association of anatomists and morphologists, 2018)
    Najdanovska-Aluloska Natasa
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    Angelkova N
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    Background: Neonatal sepsis remains a serious complication, especially among preterm infants. Neonatal sepsis is divided into early- and late-onset sepsis, based on timing of infection and presumed mode of transmission. Early - onset sepsis is defined by onset with in the first week of life, to infections occurring in the first 72 hours due to maternal intrapartum transmission of invasive organisms. Late - onset sepsis is defined as infection occurring after one week and is attributed to pathogens postnatally acquired. Materials and Methods: We have investigated neonatal sepsis in our NICU from 1 January till 31 December 2017, for one-year period, in order to determine mortality associated with sepsis and to identify the dependent predictors for morbidity and mortality. A total 216 infants were admitted in the NICU. Data were collected regarding the primary reason for NICU, maternal condition, gender, gestational age, length of NICU stay, duration of MV and non-invasive ventilation, using of umbilical catheter, and peripherally vein line. Results: Early - onset sepsis was detected in 15 neonates (12 %) within the first 72 hours. Late - onset sepsis was detected in 18 neonates (3,2 %) after 72 hours. Premature infants 23 (70 % range 26 - 37 gestational age) were more exposed to sepsis than term infants 10 (30 %; range 38-40 gestational age). 15 neonates (45,5%) were exposed to the early - onset sepsis, and 18 neonates (54,5%) were exposed to late-onset sepsis. The most frequent isolates were Staphylococcus aureus 7 ( 21,2 %), followed by Acinetobacter 6 (18,1 %), Meticillin- resistant Staphylococcus aureus 5 (72 % from total 7 Staphylococcus aureus) and Staphylococcus epidermidis 5 (15,1%), followed by Klebsiella pneumoniae 2 ( 6,06 % ), Serratia 2 (6,06 %) and Pseudomonas aureginosa 2 (6,06 %). Late - onset sepsis was significantly more common in premature infants. We confirmed that neonatal sepsis resulted with increase duration of NICU stay and duration of MV. Early diagnosis, followed by appropriate antibiotic treatment, short hospital stay and restricted use of invasive devices should be the aims to reduce the risk of late - onset sepsis during the stay in the NICU. Conclusion: Neonatal sepsis is a major cause of death in infants despite sophisticated neonatal intensive care. Early and adequate antibiotic therapy decreases the risk of morbidity of hospitalized patients.
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    Silver-Russell Syndrome (RSS) in a 16-year old boy with atrial and ventricular septal defect (ASD, VSD)
    (2006)
    Jancevska, Aleksandra
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    Jovanov, Gjorgji
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    Zafirovski, Gjorgi
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    A four years old boy was referred for dysmorphic features: a broad, prominent forehead with small triangular face, small narrow chin, divergent strabism, low set ears, short neck, clinodactyly, and contractures of both elbows. His mental development was retarded. He attains a school for children with special needs. His gait and motor coordination is awkward. Cryptorchidism was surgically corrected. Physical examination with additional ultrasound revealed a congenital cardiopathy: atrial and ventricular septal defect (ASD, VSD). Both anomalies have been surgical corrected later. His birth weight and length were low, but he started growth delay in the early childhood attaining short stature at the time of his referral (-4.75 SD). His bone age was delayed for two years. Test of pituitary reserve revealed normal growth hormone levels (18.8 and 14.1 ng/ml). Sella turcica had double contoures. Treatment with growth hormone was started at the age of seven years. Growth velocity increased and after three years he attained the third percentile (-2 SD). In total he gained 2.75 SD making the treatment with GH successful. It has to be stressed that the effect of GH treatment was additionally hampered by the short familial stature (mother 159 cm, father 164 cm, target height 166 cm). Occasional reports of association of RSS with congenital cardiac anomalies are published. Still this association is rare. It is of note that GH treatment was successful in spite of normal GH concentrations on pituitary reserve tests. RSS, its association with other anomalies and the response of RSS to GH treatment are discussed in this paper.
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    Papillorenal syndrome after beta-interferon treatment in pregnancy
    (Informa Healthcare, 2009)
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    Jancevska, Aleksandra
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    Pop Jordanova, Nada
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    Papillo-Renal Syndrome (PRS, or Renal-Coloboma Syndrome) is an autosomal dominant disorder, characterized by colobomatous eye defects, abnormal vascular pattern of the optic disk, renal hypoplasia, vesicoureteral reflux, high-frequency hearing loss, and sometimes central nervous system (CNS) abnormalities. The syndrome is associated with mutations in the PAX2 gene. This 11-year-old girl's mother was treated with beta-interferon (IFNbeta-1a) for multiple sclerosis (MS) during the pregnancy. The child failed to thrive in infancy and early childhood. The multicystic renal dystrophy, hypoplastic right kidney, and vesico-ureteral reflux (II-III grade) were diagnosed by ultrasound and radionucleotide renal scan. Subsequently, a morning glory anomaly and coloboma of the optic disc was discovered. Renal failure progressively followed. MRI of the head revealed a cyst of the right optic nerve. Genetic analysis revealed a mutation of the PAX2 gene (619 insG). The multicystic renal dystrophy and a cyst of the optic nerve in association with PRS syndrome have only rarely been described. The fact that this PRS patient stemmed from a pregnancy under beta-interferon treatment raises the question whether IFNbeta-1a treatment during pregnancy has influenced the manifestation or the severity of the PAX2 mutant phenotype in this child.
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    Four generations in a family with neurofibromatosis 1: precocious puberty and optic nerve tumor (OPT)
    (Macedonian Academy of Sciences and Arts, 2010)
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    Jancevska, Aleksandra
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    Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with varied clinical manifestations. The proband is a 6-year-old boy with signs of precocious puberty. His penis was 10 cm, testicles 8 ml, pubic hair P2-3, and the genital skin was hyperpigmented. Multiple cafe au lait spots well above 5 mm were noticeable on his skin, as well as hard subcutaneous nodules, mostly on his trunk. His intelligence and hearing are normal. He has no history of seizures. Laboratory analysis showed: LH LH 1.4 mIU/ml, FSH 6.2 mIU/ml, testosterone 183 ng/ml. Bone age was 9 years. LHRH stimulation was characteristic of true precocious puberty (LH 9.8 mIU/ml and FSH 8.9 mIU/ml after 30 minutes). The MRI of the brain showed a tumor of the suprasellar region with compression of the pituitary stalk. At present the boy is 6 years old and has been treated with triptoreline acetate for 3 months. The volume of the testicles has decreased to 7 ml and a slight loss of pubic hair was noted. In addition, his mother and his grandfather exhibited dermal masses, and focal cutaneous and subcutaneous growths. The great-grand father had had the same cutaneous changes and died at the age of 75 from unrelated causes. It has already been well documented that NF is associated with an increased risk of malignancy and precocious puberty. Hence, we emphasize the need for a close and regular clinical follow-up of the OPT, puberty and patterns of growth.
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    OSTEOMYELITIS OF FEMUR IN A DRUG ADDICTED CHILD
    (Macedonian Association of Anatomists, 2021)
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    One of the serious complicationsrelated to intravenous drug use is osteomyelitis. We report a13-year-old male child with a history of intravenous heroin abuse, who was admitted to the hospital complaining of abdominal pain and pain in the left leg. Anteroposterior roentgenogram and CT scan of the left thigh and femur,confirmed the diagnosis of osteomyelitis. Pus culture was positive for Staphylococcus aureus. Despite extensive antibiotic and anticoagulant therapy,the patient’sclinical status improved very slowly. Surgical procedure was not undertaken. Femoral osteomyelitis due to injection drug use in childhood is an extremely rare and uncommoncondition. Intravenous drug abuse, late-onset treatment, and secondary bacterial infection can lead to complications which occurred in the case presented.Itis an extremely difficult condition to treat and is a real challenge for physicians. The rapid response and participation of a multidisciplinary team of physiciansis of particularimportance
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    Преваленција и фактори на ризик асоцирани со астма, поленска треска и егзема кај школски деца во Република Македонија
    (Македонско лекарско друштво = Macedonian medical association, 2007)
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    Seckova, Lidija
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    За утврдување и компарирање на преваленцијата на астма, поленска треска, егзема и ризик-фактори асоцирани со нив, анализирани се самореферираните податоци од 5507 школски деца од 8 градови во Р. Македонија добиени преку ISAAC фаза 3 прашалниците. Податоците се статистички анализирани со chi-квадрат тест. Генерално во Македонија, во Скопје, Велес, Тетово, Охрид, источна Македонија, е утврдена превеланција за wheezing во последните 12 мес. од 7,0%, 7,2%, 12,0%, 5,0%, 5,9%, 5,6% и за дијагностицирана астма од 1,8%, 2,1%, 1,5%, 2,1%, 2,1%, 1,1%; за риноконјуктивитис во последните 12 мес. од 9,4%, 9,5%, 11,6%, 9,5%, 7,6%, 8,9% и за дијагностицирана поленска треска од 6,3%, 4,4%, 4,9%, 7,4%, 8,2%, 6,4%; за исип со чешање во последните 12 мес. од 4,4%, 3,4, 6,4%, 4,2%, 4,7%, 3,6% и за дијагностицирана егзема од 3,4%, 2,6%, 0,7%, 3,1%, 7,6%, 3,0%. Највисоката преваленција на сите симптоми и тежината на астмата и егземата во Велес би можела да се должи на често конзумирање брза храна и парацетамол и на слаба физичка активност. При компарација на интернационално ниво, Македонија има умерено ниска преваленција на симптоми на астма и поленска треска и ниска преваленција на симптоми на егзема со можност за субдијагностицираност на овие болести.
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    Value of sodium dodecyl sulfate polyacrilamide gel electrophoresis in evaluation of pediatric urinary tract infections
    (SHMSHM/AAMD, 2017)
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    Alulovska N.
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    Urinary tract infections (UTI) represent frequent health problem, especially in developing countries. Clinical signs are different based on the location of infection. An interesting ethical and professional question arises: how to treat febrile children who previously received antibiotic therapy and have sterile urine culture in presence of pyuria. Is that a pyelonephritis and are further invasive imaging studies needed? Objectives: To analyze the electrophoretic patterns of urinary proteins in children with proximal respectively distal UTI and to evaluate the value of sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) in acute febrile respiratory infections (AFRI) without signs and symptoms of UTI. Material and methods: The study included 79 children aged 1-16 years: 36 with proximal UTI (15 with culture positive APN, respectively 21 with culture negative APN), 23 with cystitis (7 with hemorrhagic cystitis) and 20 children with AFRI without symptoms of UTI. Separation of urinary proteins was performed by SDS-PAGE. Results: Children with culture positive and culture negative APN had incomplete tubular proteinuria (24-67 kDa) which was transient. Hemorrhagic cystitis was characterized by the typical presence of 28 kDa band (apolipoprotein A-1). In the group AFRI without symptoms of UTI, there was no observed pathological electrophoretograms. Conclusions: SDS-PAGE is useful laboratory technique for separating proteins by their molecular size. The presence of incomplete tubular proteinuria indicates the renal origin of the fever. Detection of apolipoprotein A-1 in children with hemorrhagic cystitis allows differentiation in relation to glomerular cause bleeding. Despite these facts, in the literature there are few reports on SDS-PAGE in diagnosis of various renal diseases including urinary tract infections.
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    Етиологија на инфекциите на долните дишни патишта во детската возраст и значењето на директниот микроскопски препарат во нивната дијагностика
    (Македонско лекарско друштво = Macedonian Medical Association, 2003)
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    Spasenovski, Trajce
    Цел на испитувањето е да е направи анализа на етиологијата на инфекции на долните дишни патишта (ДДП) кај деца според две различни микробиолошки испитувања: културелно и серолошко; да се компарираат микробиолошките наоди според етиолошкиот агенс (бактериски, вирусни, мешани) со наодите во директиот микроскопски препарат. Беа испитани трахеални аспирати (ТА) и крв од вкупно 118 деца со инфекции на ДДП од Клиниката за детски болести (ноември 2001-март 2002). ТА се испитуваа културелно и микроскопски (епителни клетки и леукоцити). Наодите беа групирани во 3 микроскопски категории: I (>25 ЛЕ, висока гнојност, <10 еп. кл. незначителна контаминација); II (>25 еп. кл. значителна контаминација; <10 ЛЕ ниска гнојност) и III (<10 ЛЕ, ниска гнојност, , <10 еп. кл. незначителна контаминација). Во серумот со Pneumo-slide тест се одредуваа ИгМ антитела на 4 атипични бактерии и 5 вируси. Со позитивен микробиолошки наод беа 109 деца. Докажани беа 243 микроорганизми (58 култивабилни бактерии, 29 атипични бактерии и 156 вируси) со најчеста застапеност на: S. pneumonia (29), M pneumonia (21), H influenzaе (17), C. burneti (7), ентеробактерии (8), Инфлуенца вирус Б (82) и Инфлуенца вирус А (74). Дваесет (18,3%) деца имаа бактериска инфекција, 38 (34,8%) вирусна а 51 (46,7%) мешана инфекција (бактериско/вирусна). Според директните микроскопски препарати, 46 (38,9%) ТА беа во I микроскопска категорија, 31 (26,2%) во II и 41 (34,7%) во III. Микроскопското испитување покажа дека бројот на децата со вирусни инфекции е поголем, 64 (58,7%) од оние со мешани 25 (23,0%). Бактериолошката (културелна+директен микроскопски препарат) и серолошката дијагностика е значајна за детекција на вистински етиолошки агенси на инфекции на ДДП (бактериски, вирусни), за одредување квалитет на примероците за обработка, за примена на соодветна антимикробна терапија.
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    Динамика на преваленцијата на астма кај млади адолесценти во 4-годишен временски интервал во Скопје
    (Македонско лекарско друштво = Macedonian medica association, 2008)
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    Seckova, Lidija
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    Kimovska, Mica
    Вовед. Испитување на динамиката на преваленцијата на астма и симптомите на астма во 4-годишен временски интервал кај млади адолесценти од Скопје. Методи. Анализирани се самореферираните податоци од прашалникот за астма на Интернационалната студија за астма и алергии во детството-фаза 3, од 3026 испитаници во 2002 год. и 1088 испитаници во 2006 год. од Скопје. За споредување на преваленцијата на астма и симптомите на астма е користен тестот chi-квадрат. Резултати. Во 2006 год. наспроти 2002 год. е утврдена сигнификантно пониска преваленција за wheezing (W) кога и да било (15,3% наспроти 18,4%), W-асоциран со напор во последните 12 месеци (7,9% наспроти 14,2%), сува ноќна кашлица во отсуство на белодробна инфекција во последните 2 месеци (13,6% наспроти 16,5%) и несигнификантно пониска преваленција на W во последните 12 месеци. (7,2% наспроти 8,8%). Обратно, за тежок W во последните 12 месеци и дијагностицирана астма е добиена несигнификантно повисока преваленција во 2006 наспроти 2002 год. Преваленцијата на користење на инхалациски кортикостероиди во однос на дијагностицирана астма кога и да било беше сигнификантно повисока во испитувањето во 2006 год. (3,6% наспроти 2,1%). Само 25,6% од испитаниците кои користеле инхалациски кортикостероиди имале дијагноза на астма.