Ring chromosome 9 in a newborn.

Ring chromosome 9 in a newborn: Ring chromosome 9 is a rare genetic disorder observed in the children with variable clinical presentation and phenotype. Among several ring formation, individuals with r(9) generally have less distinct clinical features. We examined in a newborn patient with trigonocephaly, upward-slanting palpebral fissures, small face, micrognathia, high arched palate, low set ears, hypertrichosis and broad eyebrows, short neck and we diagnosed this patient as ring chromosome 9 by chromosomal analysis. We compared the clinical findings of our cases with previously reported patients in the literature.

A new finding in a patient with Mowat Wilson syndrome: peripupillary atrophy and gingival hypertrophy.

Mowat-Wilson syndrome is a genetic disease characterized by typical facial features, Hirschsprung disease and multiple congenital abnormalities. MWS is a single gene disorder. One of the most specific clinical signs in MWS is the distinctive face. We report a two-year-old boy with multiple congenital anomalies. He had peripupillary atrophy and gingival hypertrophy different from the literature. The patient was also diagnosed with his clinical findings. These features may be important in Mowat-Wilson syndrome and clinicians should keep these findings in mind.

Early-onset severe obesity with ACTH deficiency and red hair in a boy: the POMC deficiency.

The patient is a 2.8 years old male who is extremely obese and severe hyperphagic from birth. He had seizures attacks and apnea from the second week of his life. He has red hair and serum cortisol and ACTH levels are very low. We examined our patient as a hypocortisolism due to ACTH deficiency and central hypothyrodism. After the corticosteroid replacement therapy hair color changed to brown. We performed molecular genetic analysis at the Institue for Experimental Pediatric Endocrinology laboratory in Berlin, Germany by Krude H. and found compound heterozygous mutations. As a result the case is diagnosed as POMC deficiency.

The maternal and neonatal effects of the volatile anaesthetic agents desflurane and sevoflurane in caesarean section: a prospective, randomized clinical study.

This study compared maternal and neonatal outcomes in women undergoing elective caesarean section under general anaesthesia with desflurane or sevoflurane; the neonatal effects were also compared with those in women undergoing epidural anaesthesia. Fifty women requesting general anaesthesia were randomly assigned to receive either 3% desflurane or 1% sevoflurane. Twenty-five women requesting regional anaesthesia received epidural anaesthesia with ropivacaine. Comparing desflurane sevoflurane with respect to their maternal haemodynamic effects, maternal blood pressure levels were higher and tachycardia was more frequent in the desflurane group. Comparing general and epidural anaesthesia, no significant differences were detected in terms of neonatal Apgar scores or neurological adaptive capacity scores. In conclusion, 3% desflurane or 1% sevoflurane for general anaesthesia and ropivacaine for epidural anaesthesia for elective caesarean section had similar effects on neonatal outcomes. In women who received desflurane, blood pressure and heart rate elevation were significantly higher than in the sevoflurane group, though this difference did not have any clinical importance.

The effects of propofol or halothane on free radical production after tourniquet induced ischaemia-reperfusion injury during knee arthroplasty.

BACKGROUND: Ischaemia-reperfusion injury following tourniquet release is a good in vivo model for evaluating acute conditions. The aim of the study was to investigate the effects of propofol or halothane anaesthesia on oxidative stress by determining malondialdehyde (MDA) levels during knee arthroplasty. METHODS: Thirty patients undergoing orthopaedic surgery were divided into two groups. Anaesthesia was induced with either fentanyl 100 microg and propofol 2 mg kg(-1) (Group 1) or fentanyl 100 microg and thiopentone 5 mg kg(-1) (Group 2) and maintained with infusion of propofol in Group 1 or inhalation of halothane in Group 2. ECG, SpO2, EtCO2, and mean arterial pressure (MAP) were monitored. Venous and arterial blood samples were obtained at different measurement times for MDA and blood gas analyses. RESULTS: There was a significant decrease in MAP in the 1st and 5th minutes after tourniquet release (ATR) when compared with the 5th minute before tourniquet release (BTR) in both groups. Heart rate (HR) increased significantly in the 1st minute ATR in Group 1 only. EtCO2 increased significantly in the 1st and 5th minutes ATR, SpO2 decreased in the 1st minute ATR in both groups. There was a significant decrease in pH and increase in pCO2 at 1, 5 and 30 min ATR in both groups. pO2 values decreased in the 1st minute ATR in Group 1 only and returned to control values at 5 min ATR and decreased at 30 min ATR in the recovery room in both groups. The differences in SaO2 were similar to SpO2. MDA levels decreased before and after release of tourniquet when compared to baseline in both groups. However, there was a statistically significant decrease only in Group 1. CONCLUSION: Propofol may be a good choice of anaesthetic when an ischaemia-reperfusion injury is anticipated as in orthopaedic surgery requiring a tourniquet, due to its antioxidant properties, but halothane needs further study.

[Value of neuraminic acid as a clinical parameter in 42 patients with small-cell bronchial cancer]. / Der Wert der Neuraminsäure als klinischer Parameter bei 42 Patienten mit kleinzelligem Bronchialkarzinom.

The serum concentrations of neuraminic acid, CEA, gamma-Gt, 5-nucleotidase, haptoglobin, and alkaline phosphatase were determined before therapy and three and six months after the initiation of therapy in 42 patients with small cell bronchial carcinomas. Before therapy, a significantly increased serum concentration as compared to normal values was found for neuraminic acid in 97% of patients (43/44), for CEA in 54.7% (23/42), for gamma-Gt in 19% (8/42), for 5-nucleotidase in 11.9% (5/42), for haptoglobin in 36.3% (14/44), and for alkaline phosphatase in 9.5% of all patients (4/42). Three and six months later, these laboratory investigations did not give any valuable hint with respect to therapy results, with the exception of neuraminic acid (p less than 0.05). Prior to therapy, the concentrations of neuraminic acid were considerably increased in patients (mean = 3.16 +/- 0.47 mumol/ml) with regard to normal values (mean = 1.90 +/- 0.14 mumol/ml). Within the total group of 42 patients suffering from small cell bronchial carcinomas, there was no significant difference between the serum concentrations of neuraminic acid of eleven patients with localized tumors (mean = 3.12 +/- 0.53) and those of 31 advanced tumor patients (mean = 3.16 +/- 0.45) (p less than 0.05). During the six months' treatment period, the concentration of neuraminic acid was valuable as clinical parameter in 36 patients, i.e. 85% of all cases (0.001 less than p less than 0.01). It was shown that the serum concentration of neuraminic acid indicated a regression of the disease in 23 patients (p less than 0.001), a progression in 8 patients (0.02 less than p less than 0.05), and a regression with subsequent progression of the tumor in 5 patients (0.001 less than p less than 0.01).

[Electron irradiation of cervix cancer using a new transvaginal tube system attached to the betatron]. / Elektronenbestrahlung des Kollumkarzinoms mit einem neuen transvaginalen Tubussystem, das am Betatron angesetzt wird.

A new tube system for the betatron, which normally is only applied in percutaneous electron therapy, was developed at the Radiotherapeutic Department of the Medical Faculty of Istanbul. The new system allows to use the betatron also in transvaginal irradiation of the uterine cervix cancer. The authors describe the technical features of this system, its clinical application, and the results achieved. In great tumor centres where every type of malignant disease is treated, it is indispensable to dispose of the equipment necessary for certain very special cases, even if this equipment is not used frequently. In recent years, applicators for cavitary therapy and high voltage units for percutaneous therapy have been gradually substituted for the tube system employed in former times with orthovolt therapy units in intravaginal irradiation of cervical and vaginal carcinomas. There are cases, however, where the therapy techniques used nowadays are not sufficient or where a cavitary therapy should be used. Furthermore electrons which today can easily be produced for percutaneous surface therapy with linear accelerators can also be used for transvaginal therapy. We, too, have developed a new tube system which was attached to the betatron and used in intravaginal irradiation. This study describes the tube system, its clinical application, and the results achieved.

[Results of radiotherapy and chemotherapy in small-cell bronchial carcinoma]. / Die Ergebnisse der Strahlentherapie und Chemotherapie beim kleinzelligen Bronchialkarzinom.

At the Radiotherapeutic Department of the Faculty of Medicine in Istanbul, 35 masculine patients with microcellular bronchial carcinoma, limited disease, were treated for two years, i.e. between 1980 and 1981, with a combination of radiotherapy and chemotherapy. Nine out of these patients are tumor-free after at least 46 months, i.e. about four years. This corresponds to a tumor-free survival rate of 25.7%.

[Neuraminic acid (NANA) in the serum as an indicator in breast cancer]. / Neuraminsäure (NANA) im Serum als Indikator beim Mammakarzinom.

The serum concentration of neuraminic acid and the carcino-embryonic antigen (CEA) were measured in 178 patients with diagnosed mammary carcinoma and 114 control patients. Among these 178 patients, 16 showed a local recurrence, 68 were tumor-free, and 94 had distant metastases. Only 42 out of these 94 patients kept the check-up appointments. During six months, they were regularly examined and treated with cytostatic drugs. The neuraminic acid levels corresponded mostly to the clinical state and the response to chemotherapy of these patients. All of the 94 patients with generalized mammary carcinoma had a significantly increased neuraminic acid concentration in the serum (p less than 0.001). The serum levels were not modified in 16 patients with local recurrences and in 68 tumor-free patients. The CEA values did not correspond to the serum neuraminic acid levels and the clinical state of the patients. The increase of the neuraminic acid concentration in the serum of these 42 patients with metastatic mammary carcinomas show that this parameter is a valuable indicator for the progression of this disease.