HLA Haplotype Association with Celiac Disease in Albanian Pediatric Patients from Kosovo.

Genetic predisposition to celiac disease (CD) is strongly associated with the presence of HLA alleles in the individual genotype encoding HLA-DQ2 and/or HLA-DQ8 heterodimers. The main aim of this study was to analyze the HLA-A, -B, -DRB1, and -DQ allele and five-locus haplotype frequencies in 60 Albanian pediatric CD patients and 124 non-CD children from Kosovo. The most prevalent haplotype in patients was the ancestral AH 8.1 haplotype present in 22.5% of the cases compared to 2.8% of the controls (P < 0.0001). Additionally, two other haplotypes were also overrepresented in patients (HLA-A∗02~B∗50~DRB1∗07~DQA1∗02:01~DQB1∗02:02 and HLA-A∗68~B∗44~DRB1∗07~DQA1∗02:01~DQB1∗02:02). Analysis showed that 95.0% of CD patients and 43.3% of controls were carriers of HLA-DQ2 and/or HLA-DQ8 heterodimers. The most frequent CD-predisposing HLA-DQ haplotypes in patients were HLA-DQ2.5 (46.7%) and HLA-DQ2.2 (11.6%), while the most prevalent genotypes were HLA-DQ2.5/DQX (58.3%) and HLA-DQ2.5/DQ2.2 (20.0%). The frequency of the HLA-DQ8 heterodimer among CD patients (4.2%) compared to the control group (8.1%) was without statistical significance. The given data demonstrate differences in the distribution of HLA haplotypes among Albanian CD patients from Kosovo in comparison to other European and non-European populations, as well as provide additional population data to supplement the thus far undisputed importance of the role of HLA-DQ2 and HLA-DQ8 heterodimers in the development of CD.

Gallbladder ascariasis in Kosovo - focus on ultrasound and conservative therapy: a case series.

BACKGROUND: Ascaris lumbricoides is one of the most common intestinal infections in developing countries, including Kosovo. In contrast to migration to the bile duct, migration of the worm to the gallbladder, due to the narrow and tortuous nature of the cystic duct, is rare. When it does occur, it incites acalculous cholecystitis. CASE PRESENTATIONS: This case series describes a 16-month-old Albanian girl, a 22-month-old Albanian girl, a 4-year-old Albanian girl, and a 10-year-old Albanian boy. Here we report our experience with gallbladder ascariasis including clinical manifestations, diagnostic procedures, and treatment. Fever, diarrhea and vomiting, dehydration, pale appearance, and weakness were the manifestations of the primary disease. In all patients, a physical examination revealed reduced turgor and elasticity of the skin. Abdomen was at the level of the chest, soft, with minimal palpatory pain. The liver and spleen were not palpable. A laboratory examination was not specific except for eosinophilia. There were no pathogenic bacteria in coproculture but Ascaris was found in all patients. At an ultrasound examination in all cases we found single, long, linear echogenic structure without acoustic shadowing containing a central, longitudinal anechoic tube with characteristic movement within the gallbladder. Edema of the gallbladder wall was suggestive of associated inflammation. There were no other findings on adjacent structures and organs. All patients received mebendazole 100 mg twice a day for 3 days. They also received symptomatic therapy for gastroenteritis. Because of elevated markers of inflammation all patients were treated with antibiotics, assuming acute cholecystitis, although ultrasound was able to confirm cholecystitis in only two of our four patients. Since the length of stay was dependent on the primary pathology it was 7 to 10 days. At control ultrasounds on 14th day, third and sixth month, all patients were free of ascariasis. CONCLUSIONS: Gallbladder ascariasis should be considered in all patients presenting with abdominal pain, distension, colic, nausea, anorexia, and intermittent diarrhea associated with jaundice, nausea, vomiting, fever, and severe radiating pain. Eosinophilia, ova, and parasites on stool examination as well as an anechogenic tube with characteristic movement within the bile duct found on abdominal ultrasound are conclusive for diagnosis. Mebendazole is an effective drug for the treatment. Surgical treatment is rarely needed.

Dermatoglyphics and Reproductive Risk in a Family with Robertsonian Translocation 14q;21q.

AIM: The present study is carried out to evaluate the risk of giving birth to children with Down syndrome in a family with Robertsonian translocation 14q;21q, and to find the dermatoglyphic changes present in carriers of this translocation. METHODS: Cytogenetics diagnosis has been made according to Moorhead and Seabright method, while the analysis of prints (dermatoglyphics analysis) was made with the Cummins and Midlo method. RESULTS: Cytogenetic diagnosis has been made in a couple who suffered the spontaneous miscarriages and children with Down syndrome. Robertsonian translocation between chromosomes 14 and 21 (45, XX, der (14; 21) (q10; q10)) was found in a female partner who had four pregnancies, in two of which was found fetus karyotype with trisomy in chromosome 21 and pregnancies were terminated. The outcome of fourth pregnancy was twin birth, one of them with normal karyotype and another with Down syndrome due to Robertsonian translocation inherited by mother side. Specific dermatoglyphics traits are found in the child carrying Down syndrome, whereas several traits of dermatoglyphics characteristic of Down syndrome have been displayed among the silent carriers of Robertsonian translocation 14q;21q. CONCLUSION: Robertsonian translocation found in female partner was the cause of spontaneous miscarriages, of giving birth to a child with Down syndrome, and of trisomy of chromosome 21 due to translocation in two pregnancies.

Comparing the Accuracy of the Three Dehydration Scales in Children with Acute Diarrhea in a Developing Country of Kosovo.

BACKGROUND: Although diarrhea is a preventable disease, it remains the second leading cause of death (after pneumonia) among children aged under five years worldwide. The World Health Organization (WHO) scale, the Gorelick scale, and the Clinical Dehydration Scale (CDS) were created to estimate dehydration status using clinical signs. The purpose of this study is to determine whether these clinical scales can accurately assess dehydration status of children in a developing country of Kosovo. METHODOLOGY: Children aged 1 month to 5 years with a history of acute diarrhea were enrolled in the study. After recording the data about the patients historical features the treating physician recorded the physical examination findings consistent with each clinical score. Receiver operating characteristic (ROC) curves were constructed to evaluate the performance of the three scales, compared to the gold standard, percent weight change with rehydration. Sensitivity, specificity and likelihood ratios were calculated using the best cut-off points of the ROC curves. RESULTS: We enrolled 230 children, and 200 children met eligibility criteria. The WHO scale for predicting significant dehydration (≥5 percent weight change) had an area under the curve (AUC) of 0.71 (95% : CI= 0.65-0.77). The Gorelick scales 4- and 10-point for predicting significant dehydration, had an area under the curve of 0.71 (95% : CI=0.63- 0.78) and 0.74 (95% : CI= 0.68-0.81) respectively. Only the CDS for predicting the significant dehydration above ≥6% percent weight change, did not have an area under the curve statistically different from the reference line with an AUC of 0.54 (95% CI = 0.45- 0.63). CONCLUSION: The WHO dehydration scale and Gorelick scales were fair predictors of dehydration in children with diarrhea. Only the Clinical Dehydration Scale was found not to be a helpful predictor of dehydration in our study cohort.

Performance of clinical signs in the diagnosis of dehydration in children with acute gastroenteritis.

BACKGROUND: Acute evaluation and treatment of children presenting with dehydration represent one of the most common situation in the pediatric emergency department. To identify dehydration in infants and children before treatment, a number of symptoms and clinical signs have been evaluated. The aim of the study was to describe the performance of clinical signs in detecting dehydration in children. METHODS: Two hundred children aged 1 month to 5 year were involved in our prospective study. The clinical assessment consisted of the ten clinical signs of dehydration, including those recommended by WHO (World Health Organization), heart rate, and capillary refill time. RESULTS: Two hundred patients with diarrhea were enrolled in the study. The mean age was 15.62±9.03 months and 57.5% were male. Of these 121 had a fluid deficit of < 5%, 68 had a deficit of 5 to 9% and 11(5.5%) had a deficit of 10% or more. Patients classified as having no or mild, moderate, and severe dehydration were found to have the following respective gains in percent weight at the end of illness: 2.44±0.3, 6.05± 1.01 and, 10.66± 0.28, respectively. All clinical signs were found more frequently with increasing amounts of dehydration(p<0.001, One-way ANOVA). The median number of findings among subjects with no or mild dehydration (deficit <5%) was 3; among those with moderate dehydration (deficit 5% to 9%) was 6.5 and among those with severe dehydration (deficit >10%) the median was 9 (p<0.0001, Kruskal-Wallis test). Using stepwise linear regression and a p value of <0.05 for entry into the model, a four-variable model including sunken eyes, skin elasticity, week radial pulse, and general appearance was derived. CONCLUSION: None of the 10 findings studied, is sufficiently accurate to be used in isolation. When considered together, sunken eyes, decreased skin turgor, weak pulse and general appearance provide the best explanatory power of the physical signs considered.

Sensitivity and specificity of procalcitonin to determine etiology of diarrhea in children younger than 5 years.

AIM: The aim of this study is to assess the sensitivity and specificity of procalcitonin to determine bacterial etiology of diarrhea. THE EXAMINEES AND METHODS: For this purpose we conducted the study comprising 115 children aged 1 to 60 months admitted at the Department of Pediatric Gastroenterology, Pediatric Clinic, divided in three groups based on etiology of the diarrhea that has been confirmed with respective tests during the hospitalization. Each group has equal number of patients - 35. The first group was confirmed to have bacterial diarrhea, the second viral diarrhea and the third extra intestinal diarrhea. The determination of procalcitonin has been established with the ELFA methods of producer B.R.A.H.M.S Diagnostica GmbH, Berlin, (Germany). RESULTS: From the total number of 1130 patient with acute diarrhea procalcitonin was assessed in 105. 67 (63.8%) of these patient were male. More than one third (38.14%) of the children in our study were younger then 12 months. Approximately the same was the number of children 13-24 months (33 patients or 31.43%) and 25-60 months (32 patients or 30.43%). The mean value of PRC in children with viral diarrhea was 0.13±0.5 ng/mL in children with bacterial diarrhea was 5.3±4.9 ng/m Land in children with extra intestinal diarrhea was 1.7±2.8 ng/mL. When measured using ANOVA and Turkey HSD tests, results have shown the statistical significance when comparing viral with bacterial and extra intestinal diarrhea but were statistically insignificant when comparing bacterial and extra intestinal diarrhea. CONCLUSION: Procalcitonin is an important but not conclusive marker of bacterial etiology of acute diarrhea in children younger than 5 years.

Vitamin D - Dependent Rickets, Type II Case Report.

AIM: The aim of this work the report of one case with vitamin D-dependent rickets, type II. METHODS: Diagnosis has been established based on anamnesis, physical examination, laboratory findings and radiological examination. RESULTS: A female child (age 25 months) has been hospitalized due to bone deformity, bone pain, alopecia and walking difficulties. The laboratory findings have revealed that the calcium values was low (1.20 mmol/L), phosphates in the reference value (1.30 mmol/L) the alkaline phosphatase value was quite high (852 IU/L), high value of parathyroid hormone (9.21 pmol/L), normal value of 25- hydroxyvitamin D, whereas the values of 1,25-dihydroxyvitamin D was high (185 µmol/L). Radiographic changes were evident and typical in the distal metaphysis of radius and ulna as well as in the bones of lower limbs (distal metaphysis of femur and proximal metaphysis of tibia and fibula). After treatment with calcium and calcitriol, the above mentioned clinical manifestations, laboratory test values and the radiographic changes in bones withdrew. CONCLUSIONS: Vitamin D-dependent rickets, type II is a rare genetic recessive disease, and its treatment includes a constant use of calcium and calcitriol.

The usefulness of clinical and laboratory parameters for predicting severity of dehydration in children with acute gastroenteritis.

BACKGROUND: An accurate assessment of the degree of dehydration in infants and children is important for proper decision-making and treatment. This emphasizes the need for laboratory tests to improve the accuracy of clinical assessment of dehydration. The aim of this study was to assess the relationship between clinical and laboratory parameters in the assessment of dehydration. METHODS: We evaluated prospectively 200 children aged 1 month to 5 years who presented with diarrhea, vomiting or both. Dehydration assessment was done following a known clinical scheme. RESULTS: We enrolled in the study 200 children (57.5% were male). The mean age was 15.62±9.03 months, with more than half those studied being under 24 months old. Overall, 46.5% (93) had mild dehydration, 34% (68) had moderate dehydration, 5.5% (11) had severe dehydration whereas, 14% (28) had no dehydration. Patients historical clinical variables in all dehydration groups did not differ significantly regarding age, sex, fever, frequency of vomiting, duration of diarrhea and vomiting, while there was a trend toward severe dehydration in children with more frequent diarrhea (p=0.004). Serum urea and creatinine cannot discriminate between mild and moderate dehydration but they showed a good specificity for severe dehydration of 99% and 100% respectively. Serum bicarbonates and base excess decreased significantly with a degree of dehydration and can discriminate between all dehydration groups (P<0.001). CONCLUSION: Blood gases were useful to diagnose the degree of dehydration status among children presenting with acute gastroenteritis. Serum urea and creatinine were the most specific tests for severe dehydration diagnosis. Historical clinical patterns apart from frequency of diarrhea did not correlate with dehydration status. Further studies are needed to validate our results.

Characteristics of rotavirus diarrhea in hospitalized children in kosovo.

BACKGROUND: Diarrhea is a leading cause of child mortality worldwide. Rotavirus is one of the most common causes of severe diarrhea and dehydration in children. Authors reviewed epidemiological and clinical data of the rotavirus diarrhea in Kosovo. METHODS: This is a prospective study carried between January 1st and December 31st 2011. All data, comprising demographics, nutrition, clinical presentation, laboratory findings, management and outcome of the rotavirus diarrhea are collected on the specially designed form. RESULTS: 116 children with rotavirus diarrhea are included in the study. The majority boys (74.4%) and children aged 0 - 12 months (82.75%). Mean age of children in the study was 16.38 months. Almost every third child in the study was hypotrophic (29.2%). More than half of the infants (55.2%) were on mixed food, somewhat more than every third was breast feeding (36.45%), and every twelfth (8.33%) was on artificial milk (animal or formula). Apart from diarrhea, present in all patients, vomiting (97.41%) and fever (43.96%) were characteristics of the clinical presentation of the diarrhea. Two thirds of the children had mild grade dehydration (70.7%). All patients recovered with no sequels. CONCLUSION: Rotavirus continues to be responsible for a significant portion of acute diarrhea in Kosovo. Clinical features, epidemiological data and the agglutination test are safe enough to establish the diagnosis. Treated correctly rotavirus diarrhea has a favorable outcome.

Cytogenetic study in children with down syndrome among kosova Albanian population between 2000 and 2010.

CONFLICT OF INTEREST: none declared. AIM: The aim of this research was to ascertain the frequency of three basic cytogenetical types of Down syndrome among Kosova Albanian population and to evaluate the maternal age effect on the frequency of births of children with Down syndrome. METHODS: Cytogenetics diagnosis has been made according to the standard method of Moorhead and Seabright. RESULTS: In the time period 2000-2010 cytogenetics diagnosis of overall 305 children with Down syndrome has been realized. Of which in 285 children (93.4%) were found free trisomy 21 (regular type), and in three other children (~1.0%) were detected mosaic trisomy 21. Translocation trisomy 21 was detected in 17 children (5.6%), of which in 14 children it occurred de novo translocation, whereas in 3 other children translocation has been inherited by a parent translocation carrier. The highest number of children with Trisomy 21 due to translocation was caused by Robertsonian translocation created by a fusion of two homologous chromosomes 21 (3.3%). Analysis showed that the number of children born with Down's syndrome, from 2000 to 2010, was not decreasing among the Kosova Albanian population. CONCLUSION: Down syndrome resulted by an extra free chromosome 21 is the most common genetic cause for that condition. Robertsonian translocations present in Down syndrome children often are de novo or inherited from a carrier parent with translocation.

X-linked hypophosphatemic rickets.

AIM: The aim of this work was the presentation of one case with X-linked hypophosphatemic rickets. METHODS: Diagnosis has been established based on the anamnesis, physical examination, anthropometric measurements, laboratory tests and radiological examination. RESULTS: A male patient (age 3 years) has been hospitalized due to the growth delay, bone deformity, bone pain and walking difficulties. The laboratory tests have revealed that the calcium value was in the reference range, that of phosphates was low (0.45 mmol/L), the alkaline phosphatase value was quite high (1864 IU/L), the value of parathyroid hormone and of 25- hydroxyvitamin D3 were in the reference ranges, whereas the value of 1,25- dihydroxyvitamin D3 was low. Radiographic changes were evident and typical in the distal metaphysis of radius and ulna as well as in the bones of the lower limbs. After treatment with synthetic analog of vitamin D3--calcitriol and phosphates, the above mentioned laboratory test values and the radiographic changes in bones withdrew. CONCLUSION: X- linked hypophosphatemic rickets is a rare disease inherited through X chromosome, and its treatment includes a constant use of calcitriol and phosphates with the aim of avoidance of clinical and laboratory manifestations.

Socio-demographic, Clinical and Laboratory Features of Rotavirus Gastroenteritis in Children Treated in Pediatric Clinic.

AIM: The aim of work was presentation of several socio-demographic, clinical and laboratory characteristics of gastroenteritis caused by rotavirus. THE EXAMINEES AND METHODS: The examinees were children under the age of five years treated at the Pediatric Clinic due to acute gastroenteritis caused by rotavirus. Rotavirus is isolated by method chromatographic immunoassay by Cer Test Biotec. RESULTS: From the total number of patients (850) suffering from acute gastroenteritis, feces test on bacteria, viruses. protozoa and fungi was positive in 425 (49.76%) cases. From this number the test on bacteria was positive in 248 (58.62%) cases, on viruses it was positive in 165 (39.0%), on protozoa in 9 (2.12%) cases and on fungi only one case. Rotavirus was the most frequent one in viral test, it was isolated in 142 (86.06%) cases, adenoviruses were found in 9 (5.45%) cases and noroviruses in only one case. The same feces sample that contained rotavirus and adenoviruses were isolated in five cases, whereas rotavirus with bacteria was isolated in the same feces sample in five cases. The biggest number of cases 62 (43.66%) were of the age 6-12 months, whereas the smallest number 10 (7.04%) cases were of the age 37-60 months. There were 76 (53.52%) of cases of male gender, from rural areas there were 81 (57.04%) cases and there were 58 (40.80%) cases during the summer period. Among the clinical symptoms the most prominent were diarrhea, vomiting, high temperature, whereas the different degree of dehydration were present in all cases (the most common one was moderate dehydration). The most frequent one was isonatremic dehydration in 91 (64.08%) cases, less frequent one was hypernatremic dehydration in 14 (9.85%) cases. The majority of cases (97.89%) had lower blood pH values, whereas 67 (47.17%) cases had pH values that varied from 7.16 -7.20 (curve peak), normal values were registered in only 3 (2.11%) cases. Urea values were increased in 45 (31.07%) cases (the maximum value was 26.5 mmol/L), whereas creatinine value was increased in 41 (28.87%) cases (maximum value was 302 mmol/L). CONCLUSION: The results show the high frequency of rotavirus infections in children hospitalized with acute gastroenteritis. Rotavirus may cause different dehydration degree with electrolyte, acid-base and other biochemical disorders. Preventing the infection caused by rotavirus is of a great importance.

Causes of infectious acute diarrhea in infants treated at pediatric clinic.

AIM: The aim of this work has been a presentation of causes of acute infectious diarrhea. MATERIAL AND METHODOLOGY: The examinees have been the infants treated at the Pediatric Clinic. The diagnosis has been established on the basis ofanamnesis, physical examination and feces examination on bacteria, viruses, protozoa and fungi. RESULTS: During the period of seven years a number of patients that suffered from acute infectious diarrhea was 1050 (31.82%) out of a total number (3300) with diarrhea. The bacteriological examination proved positive on majority of them or in 655 (62.38%) cases, the viral examination proved positive in 375 (35.72%) cases, whereas fungi examination proved positive in only 3 cases (0.28%). The most frequent bacteria have been Salmonellae species in 255 (38.93%) cases and E. coli in 142 (21.69%) cases, the less frequent have been Yersinia enterocolitica in 16 (2.44%) cases and Bacillus cereus in 4 (0.61%) cases. The most frequent serotypes of Salmonella have been S. Wien in 92 (36.07%) and S. Gloucester in 42 (16.47%) cases. Enteropathogenic E. Coli (most frequent serotypes O111 and O55) has been found in 112 (78.88%) cases. From the group of Shigella the most frequent has been Sh. Flexneri (most frequent serotypes 6 and 4) in 35 (58.33%) cases. The same feces sample of the majority of examinees 501 (76.48%) cases contained only one bacteria (single bacteria), two bacteria (associated bacteria) have been found in 102 (15.17%) cases, three types of bacteria have been found in 17 (2.59%) cases. Rotavirus has been isolated in 271 (72.26%) cases in comparison to adenoviruses that have been isolated in 65 (17.33%) cases. Rotavirus and adenoviruses have been isolated in 39 (10.40%) cases. CONCLUSION: Infectious acute diarrhea appears frequently, and as causes of it usually appear to be pathogenic bacteria in comparison to viruses, protozoa and fungi.

Reproductive risk of the silent carrier of Robertsonian translocation.

AIM: The aim of this study was the evaluation of risk among the couples various types of Robertsonian translocations. METHODS: Cytogenetic diagnosis has been carried out according to the Moorhead and Seabright method. RESULTS: Cytogenetics diagnosis was performed in 17 couples having Robertsonian translocations. Among our examined cases, the most frequent (82.3%) cases were with Robertsonian translocations formed by aberrant fusion between heterologous chromosomes 13q and 14q. Three out of seventeen couples affected with Robertsonian translocation 13q;14q suffered from primary infertility. The total number of pregnancy among the couples with Robertsonian translocation has been 45. Of these 80% of pregnancies resulted in spontaneous miscarriages, while 20% of others have gave birth to alive or dead children. In one couple a Robertsonian translocation was caused as a result of fusion of two homologous chromosomes 15q;15q. A patient with this translocation has had 7 pregnancies and all of them ended with abortions. CONCLUSION: Robertsonian translocation caused the primary infertility in three couples and lowering reproductive abilities in 14 others. Robertsonian translocation between 15q;15q caused intrauterine death and spontaneous failures of all pregnancies of the carrier with this translocation.

Abnormal systolic and diastolic myocardial function in obese asymptomatic adolescents.

Structural and functional cardiac changes are known in obese adults. We aimed to assess the relationship between body mass index (BMI) and cardiac function in overweight and obese asymptomatic adolescents. Ninety three healthy adolescents, aged 12.6 ± 1.2 years, received weight, height, BMI, waist, hips, waist/hips ratio assessment, hematology and biochemistry tests and an echocardiogram. Based on BMI, subjects were divided into: lean (L, n=32), overweight (Ov, n=33) and obese (Ob, n=32). Interventricular septal and LV posterior wall thickness were increased parallel to the BMI (L: 0.84 ± 0.1cm, Ov: 0.88 ± 0.1cm, Ob: 0.96 ± 0.1cm, p<0.001, and L: 0.78 ± 0.1cm, Ov: 0.8 ± 0.1cm, Ob: 0.94 ± 0.1cm, p<0.001, respectively) as were relative wall thickness (RWT) and mass index (LVMI) (L: 0.34 ± 0.05, Ov: 0.34 ± 0.05, Ob: 0.40 ± 0.04, p<0.001, and L: 47.7 ± 8.4 g/m(2), Ov: 51.9 ± 8.3g/m(2), Ob: 65.2 ± 13.3g/m(2), p=0<001, respectively). LV early diastolic (E') lateral and septal velocities (L: 15.3 ± 3.9 cm/s, Ov: 13.6 ± 4 cm/s, Ob: 10.5 ± 3.4 cm/s, p<0.001, and L: 12.2 ± 2.3 cm/s, Ov: 11.1 ± 2.4 cm/s, Ob: 9.8 ± 3.1cm/s, p=0.003, respectively), and systolic (S') velocities (L: 9.2 ± 1.4 cm/s, Ov: 9.3 ± 2.3 cm/s, Ob: 8.04 ± 1.5 cm/s, p=0.018, and L: 9.05 ± 2.3 cm/s, Ov: 9 ± 2.4 cm/s, Ob: 7.6 ± 1.1cm/s, p=0.014, respectively) were all reduced, only in obese adolescents. LV lateral E' (r=-0.44, p<0.001) and S' (r=-0.29, p=0.005) correlated with BMI. In asymptomatic adolescents, LV wall is thicker and diastolic function impaired and correlate with BMI. These findings demonstrate early cardiac functional disturbances which might explain the known obesity risk for cardiac disease.

Recurrent abortions and down syndrome resulting from Robertsonian translocation 21q; 21q.

AIM: The purpose of the present research was a presentation of case report of Robertsonian translocation composed of homologous chromosomes 21q;21q and reproductive risk found in the family affected by this type oftranslocation. METHODS: Cytogenetic diagnosis has been done on chromosome preparations of lymphocytes cultured from peripheral blood by Moorhead method. RESULTS: Analyses of cytogenetic diagnosis was performed on the couple who has been through 10 spontaneous miscarriages and two additional births with Down syndrome. The woman had Robertsonian translocation between homologous chromosomes 21: 45XX,der(21;21)(q10;q10), and there was no change in her phenotype, whereas her husband had a normal phenotype and karyotype: 46, XY. Their first child with Down syndrome symptoms did not undergo the cytogenetic analysis. By cytogenetic analysis it was discovered that their second child has Trisomy 21 with Robertsonian translocations between homologous chromosomes 21: 46,XY,+21,der(21;21) (q10;q10)mat, and that he inherited it from his mother. CONCLUSION: Chromosomal aberration that our patient suffered from and that is presented in this paper has caused spontaneous miscarriages and birth of children with Down syndrome. Based on cytogenetic analysis in prenatal diagnosis and genetic consultation of affected family with Robertsonian translocation 21q;21q, it is unlikely to select healthy offspring by a parent with that aberration.

Acrodermatitis enteropathica.

AIM: The aim of the work was the presentation of one case with Acrodermatitis enteropathica. METHODS: Acrodermatitis enteropathica is diagnosed based on the pedigree, typical clinical manifestations on the skin, laboratory results, small bowel biopsy, skin biopsy and kariotype. RESULTS: The patient was a two years old male toddler, hospitalized due to skin changes, chronic diarrhoea and total alopecia. Skin changes appeared on akral of the limbs, inguinal and perineal region, joints, perioral area and eyes. These changes appeared in different forms (erythematous, squamous, eczematiod, psoriasisforme and crusted). In the eyes were present these changes: blepharitis and conjunctivitis. Also total alopecia was prezent. Diarrhoea was chronic and specific. Laboratory findings showed the existence of sideropenic anemia, hypoproteinemia with hypoalbuminemia and low plasma zinc concentration (7.5 micromol/L). Hystopathological changes on the small bowel and skin biopsy were not typical for this disease. Following the beginning of treatment with zinc sulphate, all clinical skin manifestations disappeared within two months, but the disease itself was characterized with the periods of exarcerbation and remission. CONCLUSION: Acrodermatitis Enteropathica is a rare hereditary autosomal recessive disease. Mandatory clinical manifestations are: skin changes, chronic diarrhoea and alopecia. Treatment with zinc is obligatory for the life time.

Frequency, etiology and several sociodemographic characteristics of acute poisoning in children treated in the intensive care unit.

AIM: The aim of this work has been to present the frequency, etiology and several other socio-demographic characteristics of acute poisoning in children. THE TREATED PATIENTS AND METHODS OF WORK: The treated patients were children of all age groups hospitalized in the Pediatric Clinic of Prishtina during year 2009. The study was done retrospectively. The diagnosis was done on the basis of heteroanamnesis and in several cases on the basis of the anamnesis data of a child, routine laboratory tests and toxicologic analysis. RESULTS: 66 (9.4%) poisoned children were treated in the Intensive Care Unit. The biggest number of patients, 37 (56.06%) of them, were male, and out of that number 36 (54.55%) cases were coming from rural areas. The biggest number of them 49 (74.98%) were over 2-6 years old. The poisoning was mostly caused through the digestive tract (ingestion), it happened with 55 cases (83.33%), 56 cases (84,80%) suffered from severe poisoning, whereas 59 cases (89,50%) suffered from accidental poisoning. Regarding the type of the substances that caused poisoning, the most frequent were drugs in 34 (51.50%) cases and pesticides in 20 (30.30%) cases. Among drugs, the most dominant were those belonging to a group of benzodiazepines (10 cases) and metoclopramide (4 cases). Among pesticides the most dominant one that caused poisoning was malation (5 cases), then paration and cipermetrina appeared in 3 cases each. The biggest number of cases, 64 (96.96%) of them, were treated, whereas 2 cases (3.40%) passed away. CONCLUSION: The practice proved that that our people are not well informed about the poisoning in general, therefore it is necessary that they be educated by the use of all media, written and electronic, as well as other methods of medical education.

Rate and time trend of perinatal, infant, maternal mortality, natality and natural population growth in kosovo.

AIM: THE AIM OF WORK HAS BEEN THE PRESENTATION OF THE RATE AND TIME TRENDS OF SOME INDICATORS OF THE HEATH CONDITION OF MOTHERS AND CHILDREN IN KOSOVO: fetal mortality, early neonatal mortality, perinatal mortality, infant mortality, natality, natural growth of population etc. The treated patients were the newborn and infants in the post neonatal period, women during their pregnancy and those 42 days before and after the delivery. METHODS: THE DATA WERE TAKEN FROM: register of the patients treated in the Pediatric Clinic of Prishtina, World Health Organization, Mother and Child Health Care, Reproductive Health Care, Ministry of Health of the Republic of Kosovo, Statistical Department of Kosovo, the National Institute of Public Health and several academic texts in the field of pediatrics. Some indicators were analyzed in a period between year 1945-2010 and 1950-2010, whereas some others were analyzed in a time period between year 2000 and 2011. RESULTS: The perinatal mortality rate in 2000 was 29.1‰, whereas in 2011 it was 18.7‰. The fetal mortality rate was 14.5‰ during the year 2000, whereas in 2011 it was 11.0‰, in 2000 the early neonatal mortality was 14.8‰, in 2011 it was 7.5‰. The infant mortality in Kosovo was 164‰ in 1950, whereas in 2010 it was 20.5‰. The most frequent causes of infant mortality have been: lower respiratory tract infections, acute infective diarrhea, perinatal causes, congenital malformations and unclassified conditions. Maternal death rate varied during this time period. Maternal death in 2000 was 23 whereas in 2010 only two cases were reported. Regarding the natality, in 1950 it reached 46.1 ‰, whereas in 2010 it reached 14‰, natural growth of population rate in Kosovo was 29.1‰ in 1950, whereas in 2011 it was 11.0‰. CONCLUSION: Perinatal mortality rate in Kosovo is still high in comparison with other European countries (Turkey and Kyrgyzstan have the highest perinatal mortality rate), even though it is in a continuous decrease. Infant mortality considerably decreased (from 164‰ in 1950 to 20.5‰ in 2010). The causes of infant mortality have still been tightly related with the causes of the developing countries. Next to this, natality and the natural population growth have experienced a considerably decrease in Kosovo. Even though there have been some improvements within the health care in Kosovo, there is still a lot to be done with the aim of constant improvement of health care in order to promote the health care for mothers and children.

Research on alteration of neurons in vagal nuclei in medulla oblongata in newborns with respiratory distress.

Neuronal and axonal degenerative changes in motor vagal neurons (DMNV) and sensory vagal neurons (nTS) in the medulla oblongata in newborns were studied. Material was taken from the autopsies of newborns, live and dead newborns, in different gestational weeks (aborted, immature, premature and mature). 46 cases were studied. Material for research was taken from the medulla oblongata and lung tissue. Serial horizontal incisions were made in the medulla oblongata (± 4 mm), commencing from the obex, where the DMNV and nTS vagal nuclei were explored. Fixed cuttings in buffered formalin (10%) were used for histochemical staining. Serial cuttings were done with a microtome (7 µm). Pulmonary infections, being significant (p < 0.05), have an important place when studying respiratory distress (RD) in newborns. Morphological changes of nerve cells in DMNV and nTS nuclei in the medulla oblongata in newborns in different gestational weeks are more emphasized in matures in comparison to aborted and immature (p < 0.05). Depending on the lifetime of dead newborns, neuronal morphological changes in vagus nerve nuclei are significant (p < 0.05). Therefore, it can be concluded that pulmonary infections are often caused due to dramatic respiratory distress in newborns, while hypoxaemic changes in the population of vagus nerve neurons in respiratory distress are more emphasized in matures.