Noninvasive amino acid turnover predicts human embryo aneuploidy.

Assisted reproduction technology has two significant problems: low success rates and multiple pregnancies. Because of these problems, the priority in IVF clinics is to develop a potential diagnostic test that can be used to select the embryos with the ultimate developmental competence. Aneuploidy screening as embryo selection criteria will ensure that the transferred embryos are euploid and high implantation rate. We hypothesize that aneuploidy in human preimplantation embryos could be discriminated by their amino acid metabolism profile in the spent culture media. Preimplantation genetic testing for aneuploidy results and spent embryo culture medium amino acid content were analyzed for 58 couples. The next-generation sequencing technique was used and coupled with TE biopsy. Forty euploid and 71 aneuploid blastocysts were evaluated. Embryos were cultured individually until day 5 or 6 of embryo development. Spent culture medium was collected after finishing the culture. There was no statistical difference between D3 and D5 embryo morphology between euploid and aneuploid embryos (p > .05). Eight amino acids, including SER, GLY, HIS, ARG, THR, ALA, PRO, and TYR, were detected in the culture medium from the blank control group, euploid group, and aneuploid group. Only TYR amino acid concentration was found significantly higher in the aneuploid group compared to the euploid group (p < .003). Tyrosine amino acid levels equal to and above 76.38 µmol/L could be considered aneuploid. Aneuploid embryos demonstrate altered amino acid turnover in vitro relative to euploid counterparts. A noninvasive method of amino acid profiling will be of value as a tool for routine preimplantation embryo selection among all patient groups.

Platelet Functions in Patients with Allergic Asthma.

To investigate platelet functions in patients suffering from allergic diseases including asthma, blood was collected from ten asthmatic patients (five females, five males) and ten healthy controls (five females, five males) and by using whole-blood electrical impedance system; platelet count and platelet aggregation studies (maximum aggregation extent, maximum aggregation rate) were performed. Allergy screening was performed with skin test reactions and with high total and specific immunoglobulin E levels (CAP-Phadiatop system). Platelet count (333.1 ± 41.1 x 109/L), collagen induced the response of platelet aggregation (12.95 ± 4.19) and maximum rate of aggregation (8.00 ± 5.22) in allergic patients were found significantly higher than those of controls (252.1 ± 49.1 x 109/L; 8.33 ± 1.19; 4.28 ± 1.31) (p< 0.05). Also ADP induced response of platelet aggregation (18.21 ± 3.56) and maximum rate of aggregation (10.64 ± 2.12) in asthmatic patients were higher than controls (12.37 ± 2.63; 7.80 ± 1.64) with statistical significance (p< 0.01). Secretion products of activated platelets such as histamine, serotonin, PGF2α and PAF may play role in bronchial responsiveness in allergic asthma. The results of this study showed that platelet function tests were effected in asthmatic patients. The changes in platelet functions are thought to be related with increased IgE levels and stimulation of platelets by these antibodies.

High resolution computed tomography of the lungs in patients with rheumatoid arthritis.

Pulmonary involvement is one of the most common extra-articular manifestations of rheumatoid arthritis (RA). The aim of this prospective study was to assess pulmonary involvement with high resolution computerized tomography (HRCT) in lifelong non-smoking patients with RA. Twenty-six female and eight male patients with a mean age of 45.26 +/- 11.6 years and without any evidence or symptoms of a respiratory disease were included in the study. Data were obtained regarding duration of disease, clinical symptoms and disease activity parameters. Standard chest roentgenographs, pulmonary function tests (PFT) and HRCT were performed. PFT was abnormal in eight (23.5%) and HRCT was abnormal in 23 patients (68%). The most frequent abnormalities obtained on HRCT were interstitial involvement including septal and peribronchial thickening and fibronodular infiltration, which were found in 23 patients, and bronchiectasis was found in nine patients. Using a highly sensitive technique such as HRCT the incidence of pulmonary abnormalities in asymptomatic rheumatoid patients may be much higher than previously reported.

Prevalence of congenital abnormalities in Turkish school children.

19750 school children, ages 6 to 15 years, were examined by the authors of this study, 1,220 (6.18%) had congenital abnormalities. In this group, 4.23% were boys and 1.88% were girls. Case histories revealed inbreeding amongst the parents (families) of children with congenital malformation to be 8.9% and 8.2% for the rest of the families in this study. There were 27 different congenital abnormalities identified, with prevalence rates of 0.05/1,000 to 15.85/1,000. The most prevalent abnormalities were umbilical hernia (15.85/1000), inguinal hernia (14.50/1,000), pectus carinatum and excavatum (7.68/1,000), undescended testes (9.00/1,000 boys), congenital nevus (3.54/1,000), retractile testis (4.45/1,000 boys), pilonidal sinus (2.63/1,000), pes planus (2.28/1,000), and hemangioma (1.16/1,000). Of the 19,750 children, 70 had multiple anomalies (3.75/1,000).

Tubular duplication of the hindgut with genitourinary anomalies.

Hindgut duplication including the colon and rectum as well as the genital and urinary organs are extremely rare. Only a few cases are noted in the medical literature. In this report, a newborn with exstrophy of the urinary bladder, double vagina and uterus, double anus, and complete duplication of rectum and colon with malrotation is presented.

Neonatal peritonitis.

A retrospective study was undertaken over an eight-year period to assess the mortality rate of 66 newborns who had undergone surgery in our clinic because of peritonitis. The mortality rate for the patients admitted in poor condition was 95.2 percent, whereas it was 45.5 percent for those in good condition. There was a 100 percent mortality associated with newborns that had hypothermia and with those that had severe respiratory difficulties, whereas it was 92.3 percent for low-birth-weight infants and 86.5 percent for dehydrated infants. All babies with sclerema neonatorum died. The newborns with white blood cell counts under 5,000/mm3 also did not survive (83.3%). Etiologically, congenital megacolon, meconium ileus and spontaneous gastrointestinal perforations were the most frequent anomalies leading to death (100%). In the newborns with gastrointestinal perforations, most deaths occurred in patients with perforations of the cecum, duodenum and stomach (100%). Mortality seemed to be greater in patients with complications (77.3%), and it rose to 83.3 percent for patients who had to undergo a repeat operation due to complications. The overall mortality rate was found to be 71.2 percent.

Infantile gynecomastia with bloody nipple discharge.

Gynecomastia and bloody nipple discharge are very rare in childhood. In this report, a case of infantile gynecomastia together with bloody nipple discharge is presented. A hemorrhagic discharge was expressible from the mammary gland. Endocrinologic findings were within the normal limits. Because of persisting bleeding, a subcutaneous mastectomy was performed. The specimen was reported as gynecomastia. This boy is the first reported prepubertal gynecomastia with bloody nipple discharge in the medical literature.

The effect of steroid treatment on corrosive oesophageal burns in children.

A retrospective study was done on corrosive oesophageal burns to ascertain the preventive effect of corticosteroids on stricture development. Within the last 12 years 351 children were admitted to our medical centre with a history of corrosive agent ingestion. In 235 of these the diagnosis of oesophageal burn was confirmed by means of oesophagoscopy. Children admitted within the first 48 hours received steroid, antibiotic and fluid therapy while fluid and antibiotics were given, if needed, in the rest. Forty-six of the children were lost to follow-up. The type of corrosive agent, the admission period, the degree of the burn and the stricture development were used as parameters. Stricture development was found statistically significant in late admitted patients vs. early admissions. This retrospective study suggests the effectiveness of corticosteroid treatment in preventing the stricture development.

[Hydatid cysts in children]. / Les kystes hydatiques des enfants.

84 cases of hydatid cysts in children are reported. Presenting sings were non-specific in more than 1/2 the children. Pulmonary localisation predominated and the chest X-ray alone gave the diagnosis in 47 cases with pulmonary cysts. Several organs were involved in 17 cases. Abdominal ultrasound was routinely performed for pulmonary presentations. CT scan was reserved for parenchymal lesions in order to quantify the exact number of cysts present. 107 procedures were performed. In the majority of cases conservative surgery was involved; endocystectomy for pulmonary cysts and partial cystectomy with capitonnage for abdominal cysts. Mebendazole treatment was not considered to be an alternative to surgical treatment and was only used in specific cases.

Injuries of the vulva and vagina in childhood.

Injuries of the vulva and vagina are relatively rare in children. Over a seven-year period, we treated 45 girls. The most common etiologic factor in our study group was trauma. While 28 had only vulvar lesions, the rest had injuries of both the vulva and vagina. Thirty-two children were treated surgically for only vulvar and vaginal injuries. However, additional organ treatment was mandatory for 13 children.

A symmetric double monstrosity.

A newborn was admitted to the hospital with a set of accessory lower limbs attached to the distal sternum in addition to omphalocele, intestinal malrotation and interventricular defect. The parasitic twin was removed successfully and the omphalocele was left for conservative treatment.

Idiopathic postoperative intussusception.

During the last 11 years idiopathic postoperative intussusception developed in ten children. The incidence was 5.5% of all the intussusceptions. The age ranged from three months to ten years and the interval between two surgical procedures differed from three to eight days. Only one of the patients presented the classical signs of intussusception. In nine of them, the obstructions were in the small bowel. Nine of the ten intussusceptions needed simple manual reduction. Postoperative recovery was uneventful.

Physical growth measurements of 18,719 primary school children living in Adana, Turkey.

Height and weight measurements of 18,719 healthy children were obtained and the results were compared with those obtained from children living in several regions of Turkey and the USA. The results of these measurements differed significantly. This study demonstrates that local growth standards should be established and used in the evaluation of children.

Mortality due to trauma in childhood.

Mortality rates and factors affecting the mortality rates were studied retrospectively in 390 children with abdominal and/or thoracic trauma. Age groups, admission time, additional system injuries, and mortality rate were used as parameters. The severity of trauma injury was evaluated according to the Modified Injury Severity Scale. The mean mortality rate in all the groups was 7.9%. The rate was 6.7% for thoracic, 7.5% for abdominal, and 14.7% for combined trauma. This study demonstrates that early admitted children, children with additional organ injuries, and MISS scores greater than 25 have much more risk of mortality, and the mortality rate in preschool children is not different from the other groups.

Complete duplication of the colon.

A case with complete tubular duplication of the colon is presented. The patient was a 1-year-old girl who had had defecation problems for 3 months. Successful surgical treatment was achieved by closing the vaginal fistula and creating an oval window on the common wall of the duplicated colon.