A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?

Syndactyly type II (synpolydactyly (SPD)) is an autosomal dominant condition with typical abnormalities of the distal parts of both upper and lower limbs. We report here a previously undescribed phenotypic feature of people with severe hand and foot deformities who were born to two affected parents. This is the first example of SPD subjects manifesting a very distinctive phenotype, suggesting that they must be homozygous for this condition. The typical characteristic clinical features in these subjects are as follows: (1) short hands with wrinkled fatty skin and short feet; (2) complete soft tissue syndactyly involving all four limbs; (3) polydactyly of the preaxial, mesoaxial, and postaxial digits of the hands; (4) loss of the normal tubular shape of the carpal, metacarpal, and phalangeal bones, so as to give polygonal structures; (5) loss of the typical structure of the cuboid and all three cuneiform bones while the talus calcaneus and navicular bones remain intact; (6) large bony islands instead of metatarsals, most probably because of cuboid-metatarsal and cuneiform-metatarsal fusions; and (7) severe middle phalangeal hypoplasia/aplasia as well as fusion of some phalangeal structures that are associated with the loss of normal phalangeal pattern. We report seven subjects with this phenotype from three different branches of a very large SPD pedigree exhibiting the same phenotype with minimal variation. In mice, the Polysyndactyly (Ps) mutation shows a pattern of synpolydactyly very similar to that of human SPD, suggesting that they may well be homologous mutations. A molecular genetic study is currently under way to determine the chromosomal location of the SPD locus in humans and to identify the corresponding homologous region in mice.     

Left ventricular remodeling and aortic distensibility in elite power athletes

The aim of this study was to determine left ventricular (LV) morphology and aortic function in power athletes and to compare them with normal subjects. Thirty-two elite male wrestlers and 15 age-matched healthy male controls were included. All subjects underwent echocardiographic examination. Measurements included LV cavity dimension at systole and diastole, wall thickness, diastolic parameters, and aortic diameter, 3cm above aortic valve, at systole and diastole. Left ventricular mass and mass index were found to be higher in the athletes than in control subjects. The aortic distensibility index was found to be reduced in the athletes compared with controls (2.53 ± 0.91 vs 3.94 ± 1.77cm²dyne^–1 10^–6, P = 0.003), while the aortic stiffness index was significantly higher in the athletes than in controls (9.12 ± 3.23 vs 6.65 ± 2.35, P = 0.02). However, LV end-systolic wall stress was lower in the athletes than in controls. Furthermore, transmitral early (E) and late (A) peak velocity, peak velocity of the myocardial systolic wave (S _m), and early (E _m) and atrial (A _m) diastolic waves at the inferior wall were higher in the athletes than in controls. Reduced aortic distensibility in elite power athletes may be one of the cardiovascular adaptation factors which affect LV hypertrophy.     

Right ventricular myocardial performance index and exercise capacity in athletes

Right ventricular function is important for exercise capacity in athletes. The aim of this study was to investigate the effects of habitual exercise training on right ventricular global function. Fifty-two male athletes (25 runners, 27 wrestlers) and 43 age-matched sedentary male subjects were studied. All subjects in the study underwent an echocardiography examination and cardiopulmonary exercise test. Maximal oxygen consumption, right ventricular cavity diameters, and diastolic parameters were higher in the athletes than in controls. However, the right ventricular myocardial performance index was lower in athletes compared with controls. Therefore, the right ventricular myocardial performance index showed a negative correlation with maximal oxygen consumption (r = −0.61; P < 0.001). The right ventricular myocardial performance index may reflect changes in right ventricular function and exercise capacity in athletes.     

Percutaneous management in hepatic alveolar echinococcosis: A sum of single center experiences and a brief overview of the literature

BACKGROUND Hepatic alveolar echinococcosis(HAE) is a serious zoonotic infection that affects humans. It may have a tumor-like appearance at times. Percutaneous treatment of HAE patients is extremely relaxing for them. HAE is a significant human zoonotic infection caused by the fox tapeworm Echinococcus Multilocularis larvae. It possesses the characteristics of an invasive tumor-like lesion due to its infiltrative growth pattern and protracted incubation period. The disease is endemic over centra...     

Percutaneous treatment of liver hydatid cysts

Hydatic disease caused by Echinococcus granulosus is an endemic disease and an important public health problem in some countries of the world. The results of surgical treatment are associated with a high rate of mortality, morbidity, postoperative recurrence and a long period of hospital stay and the medical treatment results are still controversial. Although the percutaneous aspiration and treatment of liver hydatid cysts were considered to be contraindicated due to risks of anaphylactic shock and dissemination of clear-crystal fluid into the abdomen, several reports of successful percutaneous treatment of liver hydatid cysts have been published in the literature. Today, percutaneous treatment of liver hydatid cysts is the most effective and reliable treatment procedure in the selected cases. In this review, indications, contraindications, method and techniques, healing criteria, complications, results and importance of the percutaneous treatment of liver hydatid cysts are discussed.     

Three cases of recurrent epileptic seizures caused by Endosulfan

To commit suicide, three young adults swallowed a relatively small amount of a widely used insecticide containing endosulfan. They developed recurrent epileptic seizures. After hospitalization they were treated and recovered without any sequel. These seizures were classified as acute symptomatic or provoked seizures. We suggest that if one faces acute repetitive seizures, especially in the rural areas, an intoxication such as endosulfan intoxication should be considered when the etiology is uncertain even in the absence of any signs of intoxication.     

Primary pleural lymphoma: an unusual presentation of childhood non-Hodgkin lymphoma

A case of primary pleural non-Hodgkin lymphoma in a 2.5-year-old girl is reported. The patient had pleural involvement as the initial and only manifestation of the disease. Histopathalogic examination showed lymphoblastic lymphoma of T-cell origin. The child received the modified LSA2-L2 protocol. During the maintenance treatment, she had an isolated central nervous system relapse and died of neutropenic sepsis. To the authors' knowledge this represents the first case report of primary pleural lymphoma in the childhood period.     

Single-session percutaneous ethanol sclerotherapy in simple renal cysts in children: long-term follow-up

Background: Simple renal cysts are rare in children and managed conservatively unless symptomatic. Objective: To demonstrate the efficacy and long-term results of single-session ethanol sclerotherapy in symptomatic simple renal cysts in children. Materials and methods: Three simple renal cysts in three children (age 1, 5 and 16 years) were included in the study. Indications for treatment were flank pain (n=1), hypertension (n=1), and increasing cyst size and urinary tract infection (n=1). The mean follow-up period was 5.5 years (range 3–7 years). The procedures were performed with the guidance of US and fluoroscopy and under IV sedation. After the cystogram, 95% ethanol with a volume of 40% of the cyst volume (but not more than 100 ml) was used as the sclerosing agent. Results: Two cysts disappeared completely, while the volume reduction was 99% for the third cyst at the end of the first year. CT demonstrated calcification of the cyst without an enhancing soft-tissue component in the third one 7 years after sclerotherapy. After the procedures, hypertension and pain resolved without any medication. There were no complications during the procedures or during follow-up. Cytological examination was unremarkable in all patients. Conclusions: Percutaneous treatment of symptomatic simple renal cysts in children with single-session ethanol sclerotherapy is a safe, effective and minimally invasive procedure. Calcification owing to sclerotherapy can be observed on follow-up.