Hemophilia A carrier female newborn with novel p.M2274T mutation presented with psoas hematoma

Hemophilia A is an X-linked recessive disorder characterized by congenital deficiency of factor VIII. Mostly, males are affected. Cases of hemophilia A are unusual in females but can result from certain genetic mechanisms. The severity of bleeding in hemophilia is generally correlated with the coagulation factor level. In mild hemophilic cases or carriers, bleeding is not usually seen and may occur following trauma or surgery. In this report, we present a female premature newborn with psoas hematoma having a novel heterozygous missense mutation for hemophilia A. Keywords: Hemophilia A carrier, Novel mutation, Prematurity, Female, Psoas hematom

Utjecaj odnosa koncentracija bakra u hrani i plazmi na razvojnu ortopedsku bolest u ždrjebadi.

The study group consisted of ten foals, 3-6 months old, 6 male and 4 female, KWPN breed, with developmental orthopedic disease (DOD). The control group consisted of eight healthy foals. On clinical examination, lameness, swelling of joints, and pain were observed in all foals. Clinical, radiographic, and pathological findings in ten foals indicated DOD. Serum Cu concentrations in foals with DOD were significantly lower than in the control group (0.094 ± 0.011 mg/kg vs, 0.932 ± 0.068 mg/kg, respectively; P0.05), serum Ca levels (187.836 ± 7.921 μg/dL vs. 150.912 ± 5.271 μg/dL, respectively, P >0.05), and serum P levels (247.339 ± 10.729 μg/dL vs. 190.470 ± 5.775 μg/dL, respectively, P >0.05) were observed both in foals with DOD and in healthy foals. There were no statistically significant differences between the DOD group and the control group with respect to serum levels of Ca, P and Zn. We concluded that DOD is associated with reduced serum levels of Cu in foals. Copper is an important trace element for growing foals.Pokusna skupina sastojala se od 10 ždrjebadi s razvojnom ortopedskom bolešću, šest muške i četiri ženske, u dobi od tri do šest mjeseci, pasmine kraljevski nizozemski toplokrvnjak. Kontrolna skupina sastojala se od šest zdrave ždrjebadi. Sva je ždrjebad bila klinički pregledana na hromost, otekline zglobova i bol. Klinički, radiografski i patološki nalazi upućivali su na razvojnu ortopedsku bolest. Koncentracija bakra u ždrjebadi s razvojnom bolešću bila je značajno manja nego u ždrjebadi kontrolne skupine (0,094 ± 0,011 mg/kg u odnosu na 0,932 ± 0,068 mg/kg; P0,05, dok su serumske razine kalcija iznosile 187,836 ± 7,921 μg/dL u odnosu na 150,912 ± 5,271 μg/dL u kontrolne skupine, P>0,05, te razine fosfora 247,339 ± 10,729 μg/dL u pokusne u odnosu na 190,470 ± 5,775 μg/dL u kontrolne skupine, P>0,05. Nisu ustanovljene statistički značajne razlike između istraživane i kontrolne skupine s obzirom na razine Ca, P i Zn. Zaključuje se da je razvojna ortopedska bolest u ždrjebadi povezana s razinom Cu u serumu. Bakar je važan element za rast ždrjebadi

PHENOTYPIC, HORMONAL AND MOLECULAR GENETIC CHARACTERISTICS OF 5-ALPHA REDUCTASE TYPE 2 DEFICIENCY PATIENTS: A MULTICENTER STUDY FROM TURKEY

WOS: 000412595405268

Prospective Evaluation of Chromosomal Breakages in Hemophiliac Children after Radioisotope Synovectomy with Yttrium(90) and Rhenium(186).

50th Annual Meeting of the American-Society-of-Hematology/ASH/ASCO Joint Symposium -- DEC 06-09, 2008 -- San Francisco, CAWOS: 000262104701441Amer Soc Hematol, Sanofi Aventis U.S

Unexpected Coexistence of a Derivative t(21;21) and Complementary Mosaic r(21) in a Female with Multiple Miscarriages

The case presented here describes a female patient with recurrent miscarriages and a normal microarray analysis result. However, the coexistence of a robertsonian (21;21) translocation and complementary mosaic ring chromosome 21 was detected by karyotyping and FISH analysis. Partial trisomy 21 was found with QF-PCR and microarray analysis in one of the fetuses. The aim of this report was to emphasize the diagnostic importance of conventional cytogenetics. (C) 2019 S. Karger AG, Base

Reasons for Adult Referrals for Genetic Counseling at a Genetics Center in Izmir, Turkey: Analysis of 8965 Cases over an Eleven-Year Period

WOS: 000290454500006PubMed ID: 21221751A limited numbers of published studies evaluate the referral reasons for genetic counseling services in the literature. These studies are focused on prenatal genetic counseling services, in particular, prenatal diagnosis. In order to provide the most effective and helpful genetic counseling services, genetics professionals need adequate knowledge about the profile of individuals referred for these services. In addition, physicians need increased awareness of the nature of genetic issues in order to make appropriate referrals. This study was intended to provide a descriptive analysis of the referral reasons of patients that received genetic counseling at a genetics center in Izmir, Turkey during an 11-year period. A total of 8965 records generated between 1998 and 2008 from one genetic center (which consists of The Department of Medical Genetics and Division of Pediatric Genetics) were evaluated retrospectively. Of these, 6,258 involved referrals for prenatal reasons, and 2,707 involved referrals for postnatal reasons. Both prenatal and postnatal records were further classified into more specific categories of referral reasons. The most common reason for genetic counseling among the prenatal patients was advanced maternal age (42.0%), followed by high risk results on prenatal biochemical screening tests such as second trimester double test [(serum concentration of alphafetoprotein (AFP), beta-human chorionic gonadotropin (beta-HCG)], triple test (serum concentration of AFP, beta-HCG, oestriol) and integrated test (26.5%). The most common indications for postnatal patients were recurrent miscarriages (28.2%) and infertility (19.7%). A significant increase in number of specific categories of referrals for genetic counseling was observed for the last 3 years after the establishment of the Medical Genetics Department. These data provide useful information about the frequency of referrals to the genetics department, and the feasibility of genetic services. Organization of genetic services and systematic procedures for genetic counseling and genetic testing may improve the public's awareness of genetics and ensure a high standard of patient care