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.

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.

Significance of the anti-aging protein Klotho.

The Klotho gene was identified as an 'aging suppressor' in mice. Overexpression of the Klotho gene extends lifespan and defective Klotho results in rapid aging and early death. Both the membrane and secreted forms of Klotho have biological activity that include regulatory effects on general metabolism and a more specific effect on mineral metabolism that correlates with its effect on aging. Klotho serves as a co-receptor for fibroblast growth factor (FGF), but it also functions as a humoral factor that regulates cell survival and proliferation, vitamin D metabolism, and calcium and phosphate homeostasis and may serve as a potential tumor suppressor. Moreover, Klotho protects against several pathogenic processes in a FGF23-independent manner. These processes include cancer metastasis, vascular calcification, and renal fibrosis. This review covers the recent advances in Klotho research and discusses novel Klotho-dependent mechanisms that are clinically relevant in aging and age-related diseases.

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.

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.

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.

Thrombocytopenia absent radius (TAR) syndrome.

AIM: The aim of the work was a presentation of one case with Thrombocytopenia absent radius (TAR) syndrome. METHODS: Diagnosis of TAR syndrome has been established on the basis of pedigree, laboratory findings (hemogram, platelet count, peripheral smear), bone marrow biopsy, radiological examination and karyotype. RESULTS: A patient was a two months old female child, hospitalized due petechial bleeding, upper limb anomalies and diarrhea. LABORATORY FINDINGS: red blood cell count was 2.1 x 1012/L, hemoglobin value was 62 g/L, white blood cell count indicated the existence of leukemoid reaction (40.0 x 109/L), the eosinophyle count at the leukocyte formula was increased (3%), bleeding time was prolonged (10'). The platelets at the peripheral blood smear were rarely present, whereas the megacaryocytes appeared in the bone marrow aspiration in the decreased number, or did not appear at all. At the radiological examination of the upper limbs, radius was absent in both shoulders. CONCLUSION: TAR syndrome is a rare hereditary disease. Obligatory clinical manifestations are: thrombocytopenia and bilateral absence of the radius. Prenatal diagnosis can be established during the 16th week of gestation by ultrasound and if it is continued with the pregnancy it is preferred that the platelet transfusion be given intrauterine. The mortality rate depends on the age of the patient and the platelet count.

Clinical dilemmas and surgical treatment of penoscrotal, scrotal and perineal hypospadias.

Hypospadia is the most common congenital malformation of the urinary tract. It is a malformation with the opening of the urethra proximally from the usual site. The meatal opening can be anywhere alone the shaft of the penis, or in more severe forms, within the scrotum, or in the perineum. Consequently the hypospadias can be distal, medial and proximal. The proximal ones can be penoscrotal (PS), scrotal (SC) and perineal (PE). The cause of hypospadias is largely unknown; however, current epidemiology and laboratory studies have shed new light into the etiology of hypospadias. With recent advancements in molecular biology, microarray technology, it appears that hypospadias is potentially related to disrupted gene expression. Currently, the only available treatment is surgery. The aim of this study was to present our results of the surgical correction of hypospadias and methods used to answer the clinical dilemmas about the gender. Authors have used two methods for a surgical resolution of the hypospadia - one-step operation suggested by Snodgrass and two-step operation, employing free graft suggested by Bracka. Clinical dilemmas regarding the gender were answered using cytogenetic assessment through lymphocyte cultivation method, suggested by Seabright. The cytogenetic assessment was carried in 23 patients with proximal hypospadia (penoscrotal, scrotal and perineal). Characteristic male cariotype (46, XY) was found in 22 patients. In one patient, with scrotal hypospadia, we found the characteristic female cariotype. This patient had testicles. The patient with female cariotype had a TDG gene that determines the differentiation of the testicles. Although surgery remains the only therapy for the treatment of the hypospadias, better understanding of the molecular and hormonal mechanisms behind the diseases may contribute to the prevention and the decrease in the incidence of the malformation. Cytogenetic testing in patients with unclear gender is important in planning further treatment.