M E D I C U S - Shoqata e Mjekëve Shqiptarë të Maqedonisë-Hipokrati

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Key words: Symptomatic depression, therapeutics approach, feeling of loss, somatics disorders. ///////////////////////////////////////////////////////////////////////////////////////////////////////////////////////////////// ///////////////////////////////////////////////////////////////////////////////////////////////////////////////////////////////// MEDICUS PREZANTIM RASTI / CASE REPORT NEONATOLOGJI TRISOMY 18, CLINICAL CHARACTERISTICS AND POSSIBILITIES FOR PRENATAL PREVENTION – CASE REPORTS Anet Papazovska-Cherepnalkovski 1 , Katica Piperkova 1 , Elena Sukarova-Angelovska 2 , Snezhana Palchevska-Kocevska 1 , Aspazija Sofijanova 3 , Natasha Najdanovska-Aluloska 1 , Gordana Ilieva 2 1 Department of Neonatology, University Pediatric Clinic, Medical Faculty, Skopje, Republic of Macedonia 2 Department of Endocrinology and Genetics, University Pediatric Clinic, Medical Faculty, Skopje, Republic of Macedonia 3 Intensive Care Unit, University Pediatric Clinic, Medical Faculty, Skopje, Republic of Macedonia Anet Papazovska - Cherepnalkovski, MD, Ms.sci, pediatrician Ul. 11 Oktomvri 125/4-19, 1000 Skopje Tel. 02/ 3221 687, & +389 2 3147 717, & +389 70 239 838 e-mail: anet@freemail.com.mk RESUME:Trisomy 18 is the second most common autosomal trisomy in liveborn infants characterized by various severe congenital malformations, growth retardation as well as high rate of infant mortality. Here we present two cases of trisomy 18 from our clinical practice with an emphasis on their clinical characteristics. These two cases have similar family history, being first children from uneventful pregnancies in families of young parents. Clinical features and postnatal survival in both cases vary significantly. Some of
the common features in both cases are: growth restriction, congenital heart defect, low-set ears, short neck, and retrognatia. The cases presented here represent a reminder for the clinicians in terms of appropriate prenatal diagnosis as well as increased awareness of this condition and adequate treatment in the early neonatal period. Key words: trisomy 18, clinical characteristics, prenatal diagnosis Medicus 2009, Vol. XI (1): INTRODUCTION Trisomy 18 is the second most common autosomal trisomy in newborns with an estimated birth prevalence of 1 in 3000 to 1 in 8000 (1, 2, 3). Congenital heart and central nervous system defects are frequently present and are common underlying causes of death in these patients (2, 3, 4). The spectrum of associated anomalies includes: horseshoe kidneys, esophageal atresia, clenched hands, rocker bottom feet, low set or malformed ears, facial clefts, as well as growth retardation (3, 5). The life span of the majority of patients is less than 1 year (6); the median survival age varies between 4 days 5 and 5 months 4 with only 1% of the children that survive until their 10th birthday (5). Advances in ultrasound prenatal diagnosis have greatly improved the possibility for early detection of congenital anomalies, leading to improvement of perinatal care and giving the opportunity for pregnancy termination in the cases of lethal disorders (7, 8, 9). In this paper we describe two cases of trisomy 18 from our clinical practice with an emphasis on their clinical characteristics and we give a brief overview on the possibilities for effective prenatal prevention. CASE 1 The patient was delivered at term (40 wg), after an uneventful pregnancy terminated by cesarean section, as a first child in a family of young parents. The mother, being a primagravida at the age of 27 years was not advised to a prenatal screening for fetal aneuploidies. The child was born severely growth retarded; the birth weight was 2500 g, the birth length 50 cm and the head circumference 33 cm. A moderate perinatal asphyxia was present at birth (Apgar score 4/8). After initial stabilization he was referred to our Department at the age of 2 days for further diagnostic workup and treatment under a developed clinical picture of respiratory distress. At admission, the child was cyanotic, dehydrated, with pronounced tachycardia, tachypnea, grunting and costal retractions, systolic murmur of 2/6 o was present as well as hepatomegaly of 3 cm. The dysmorphic profile included: dry and chapped, ichtyosiform skin with hirsutism distributed on the forehead, back and extremities, microcephaly, widely opened posterior fontanel, antimongoloid set eyes and eyebrows, bulging eye bulbs with ptosis and edema of the palpebrae, upturned nose with a sharp root and a sharp nasal ridge, microretrognathia, high arched palate, gingival hypertrophy, short philtrum, low-set ears, soft auriculae, malformed and posterior rotated right ear, short and webbed neck (Figure 1), widely spaced nipples, edema of the hands and feet with joint contractures (arthrogryposis), underdeveloped nails, clenched short hands with bilateral simian crease, short fingers,
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M E D I C U S ISSN 1409-6366 UDC 61
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Lezioni I pleksusit brahial tek të
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Health problems related the greenho
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Relax Book presentation Personal ne
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Në praktikën mjekësore, pa marr
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Besim Aliu, mjek internist Tel. + 3
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kemi konstatuar rënie të vlerave
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REZYME: Qëllimi: Të hulumtohet ef
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në murin e duodenit, që do të th
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Nga aspekti i shërimit të ulçer
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PËRFUNDIMET 1. Rezultatet në shë
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COMPARISSON OF THREE PANTOPRAZOLE-B
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Konservantët në vaksina Konservan
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Yellow Fever Hepatiti B Y-F-Vax Ave
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Absorbanca 0.18 0.16 0.14 0.12 0.1
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2 Institute of Public Health, Tiran
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EIQ C 5* DT DT * P S P C * * SY 2 L
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- Kohëzgjatja e simptomave ishte n
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6. American Conference of Governmen
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раст) 1. инсулин 2. хо
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2.Одредување на хол
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2.Концентрација на
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А-Контрола машки (н=
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2 Psyhiatric hospital of Demir Hisa
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shëndetit të zhvillojnë programe
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(BMI midis 25- 29.9), **** Obeze (B
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Mënyra jo e shëndetshme e të ngr
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Në termin zakone të të ushqyerit
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2 Klinika za klini~ka biohemija, Sk
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Depresy inventiory - BDI) koja e po
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Grafikon 2a. Raspredelba na ispitan
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Br. % Br. % Br. % Br. % Nos / / 1 5
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SYMMARY DEPRESSION IN ABSTINENT HER
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hipertensionit arterial, si sëmund
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Gjinia (F) 37/54 20/30 0.94 TA** si
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Ndikimi i kohëzgjatjes së hiperte
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1 Internal Clinic, Service of Cardi
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karboni dhe pluhura), si dhe ndaj n
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Pasqyra 5 punëtorët e prodhimit t
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Figura 2 Pasqyra 9 Prevalenca e SPO
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është konstatuar në punëtorët
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6. Sessa T, Vecchione C, Mole R, Ja
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Петар Аврамовски 1 ,
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заболувањата. Испи
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Слика 1 - Колор Допл
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2. Görg C, Riera-Knorrenschild J,
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Групата која беше т
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Испитани се 40 пацие
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DPI 0,4 0,35 0,3 0,25 0,2 0,15 0,1
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ЗАКЛУЧОЦИ 1. Вредно
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In our study were estimate together
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поставува прашањет
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Табела 1. Максималн
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1. Континуирано се н
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Irina Panovska-Stavridis Univerzite
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Cel na na{ata studija e da vovede m
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PAS +/- 10 56 M 90 11 135 21 M1 POX
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Sigurna potvrda za postavuvawe na d
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PUNIM PROFESIONAL / PROFESIONAL PAP
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psikologjike. Stresi ndryshon nga n
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Në total numri i personave të pë
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Ne u përpoqëm të kuptonim me cil
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REFERENCAT Gjendja emocionale e fë
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Mерита Ismajli-Marku, lekar, n
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Da se napravi analiza na naj~estite
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Grafikon 2: Definitivni dijagnozi p
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distalna simetri~na nevropatija (11
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patients (15,34%). Radicular lessio
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Adolescentot ne sozreva ~ekorej}i d
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postoi nekoj problem,a od niv izdoe
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kriza e promenata na sostavot na se
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families which have certain problem
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� покривање на тро
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ЛИЧНИ ТРОШОЦИ (2005 П
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Целта и суштината н
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задължителното оси
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group 1. Adverse effects from the d
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(P=0.01) and expulsion time (P=0.00
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DISCUSSION Spontaneous passage of u
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15. Dellabella M, Milanese G, Muzzo
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were International Prostate Score S
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Study group Control group Diastolic
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9. Roehrborn CG, Siami P, Barkin J
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prediktor me ndikim të madh në ko
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Për paraqitjen e ndikimit të komo
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Pas testimit të bërë, nuk ësht
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sinjifikancë të rëndësishme sta
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Amputation is not only a loss of a
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influence of different demographic
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informed their doctor for use of al
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16. Moore, J., Phipps, K., Marcer,
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mostra të cilat u morrën në 5 sa
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12 dysheme kontaminim 13 parvaz dri
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Page 189 and 190: Inspektimet e mbikqyrjes të person
Page 191 and 192: FAKTORËT PREDISPOZUES TË PNEUMONI
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Page 197 and 198: Key words : mechanical ventilation,
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Page 205 and 206: Frakturat osteoporotike mbesin prob
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Page 219 and 220: SUMMARY THE CAUSES OF BLINDNESS IN
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pranishmit i përshëndeti dhe u d
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� Florence LUSTMAN, inspector gen
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TAKIME MJEKËSORE / MEDICAL MEETING
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evista mjeksore ―Praxis Medicus
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19) Prof. Dr. Bexhet Canhasi, profe
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NGA AKTIVITETET E SHMSHM
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Dr. Omer Xhemali, kardiokirurg, Gje
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- titullin e punimit; - emrin dhe m
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preskoknat vo ovaj broj ili ke nema
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Do të thonin ata që flasin anglis
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Se slozuvam da bidete uste postrogi
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Hysen Ukmata 1928 - 2008 Hysen Ukma
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Ass. dr sci Adem Haziri, Fakulteti
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përshkruhet qartë, kurse metodat
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3. Ju keni të drejtë të pranoni
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M E D I C U S - Shoqata e Mjekëve Shqiptarë të Maqedonisë-Hipokrati

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