Dermoscopy is a suitable method for the observation of the pregnancy-related changes in melanocytic nevi

BACKGROUND: It is a common opinion that expansion and darkening in melanocytic nevi may occur during pregnancy. The main problem is that whether it is a usual finding, or it is a condition that requires suspicion about melanoma. OBJECTIVES: It was aimed to find the changes that might occur in the sizes and structures of melanocytic nevi during pregnancy. METHODS: Ninety-seven nevi of the 56 pregnant women in the first trimester were evaluated in the study. The localization and size of the nevi were recorded on a standard body diagram. After clinical examination, dermoscopic analyses were applied. Pattern analyses were done, and total dermoscopy scores (TDS) were calculated by applying ABCD scoring system. All subjects were seen again during the third trimester. RESULTS: There was a statistically significant difference between the mean diameters of nevi in the first and third trimester (P = 0.001). Of nevi whose diameters increased, 10 (50.00%) were localized on the front of body, 6 (30.00%) on the face and neck, 3 (15.00%) on the legs, and 1 (5.00%) on the back. The enlargement in diameters was more significant on the front of the body, but there was no statistically significant difference. Compared according to the pattern analysis, new dot formation was observed only on the structure of six nevi during the last trimester. Four of them were localized on the front of the body. There was statistically significant increase in mean TDS in comparison between the first and third trimesters (P = 0008). CONCLUSIONS: During the pregnancy, widening in diameters and structure changes of nevi may be seen especially on the front of the body. We also think that these findings might be connected with expansion of the skin during pregnancy. Dermoscopic controls are the first choice of method to analyse the nevi since the patient may not recognize these changes.     

Distraction - A Minimally Invasive Technique for Treating Camptodactyly and Clinodactyly

Camptodactyly and clinodactyly are relatively common congenital anomalies affecting about 1% to 2% of the general population. Though functional impairment is uncommon other than in very severe cases, patients affected do present very often for correction. The kind of surgeries available is as diverse as the aetiology of the conditions. It ranges from simple release of the flexor digitorum sublimis (FDS) to more complex small muscle transfers, rebalance etc. In this short series a relatively easier, minimally invasive technique of distraction has been used to correct these deformities with gratifying results.Key Words: Common deformity, Minimally invasive procedure, Patient satisfaction     

Nutritional support and growth in thalassaemia major

Twelve thalassaemic children under 3 years of age received intensive nutritional support for one month and were discharged on a prescribed diet of locally available foods. Anthropometry, bioelectrical impedance analysis and dietary intake were longitudinally assessed. Mean energy intake was 20% greater than the recommended daily allowance during nutritional supplementation as compared with below the recommended daily allowance before and after the period of nutritional support. Weight, but not height, significantly increased during the support period and was due to increases in both fat free mass and fat mass. Body weight, fat free mass and fat mass declined in line with the reduced intake upon return home; however, height velocity accelerated and exceeded normal through the fourth month before resuming a below normal rate. It can be concluded that (1) nutritional stunting as the result of reduced nutrient intake is an important cause of growth failure in young children with thalassaemia and is responsive to nutritional support, (2) the deficit in height velocity was due to retarded truncal height growth, and (3) the bioelectrical impedance analysis method is suitable for body composition analysis of thalassaemic children.     

Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families

Spinocerebellar ataxia 2 (SCA2) is caused by the expansion of an unstable CAG repeat encoding a polyglutamine tract. One hundred and eighty four index patients with autosomal dominant cerebellar ataxia type I were screened for this mutation. We found expansion in 109 patients from 30 families of different geographical origins (15%) and in two isolated cases with no known family histories (2%). The SCA2 chromosomes contained from 34 to 57 repeats and consisted of a pure stretch of CAG, whereas all tested normal chromosomes (14-31 repeats), except one with 14 repeats, were interrupted by 1-3 repeats of CAA. As in other diseases caused by unstable mutations, a strong negative correlation was observed between the age at onset and the size of the CAG repeat (r = -0.81). The frequency of several clinical signs such as myoclonus, dystonia and myokymia increased with the number of CAG repeats whereas the frequency of others was related to disease duration. The CAG repeat was highly unstable during transmission with variations ranging from -8 to +12, and a mean increase of +2.2, but there was no significant difference according to the parental sex. This instability was confirmed by the high degree of gonadal mosaicism observed in sperm DNA of one patient.      

The embryo versus endometrium controversy revisited as it relates to predicting pregnancy outcome in in-vitro fertilization-embryo transfer cycles

To evaluate embryonic and endometrial factors for their value in predicting pregnancy outcome in in-vitro fertilization (IVF) and embryo transfer, a retrospective data collection and prospective uterine artery colour Doppler imaging study was performed in a university-based IVF-embryo transfer programme setting. A total of 210 patients were included and grouped as follows: (I) IVF with controlled ovarian stimulation (214 cycles); (II) frozen-thaw cycle of autologous embryos (30 cycles); (III) oocyte donation, no cryopreservation (12 cycles); (IV) frozen-thaw cycle with embryos from donated oocytes (10 cycles). Embryo quality was significantly better in pregnant than non-pregnant cycles (group I, P = 0.0104; groups II-IV, P = 0.0418). The endometrial echo was significantly thicker in pregnant versus non-pregnant patients in group I (P = 0.0059), but not in groups II-IV (P = 0.741). Past uterine surgery or abnormalities had no effect on pregnancy outcome. There were no significant differences in mean uterine artery resistance index or peak systolic velocity in pregnant versus non-pregnant patients in groups II-IV. Thus, embryo quality is the most reliable predictor of pregnancy outcome. Endometrial measurements were significantly thicker in subsequently pregnant patients only in group I, where the endometrium reflects the hormonal environment. Doppler parameters were not useful in predicting pregnancy outcome.      

An overview of health issues and development in a large clinical cohort of children with Angelman syndrome

This study presents a broad overview of health issues and psychomotor development of 100 children with Angelman syndrome (AS), seen at the ENCORE Expertise Center for AS in Rotterdam, the Netherlands. We aimed to further delineate the phenotype of AS, to evaluate the association of the phenotype with genotype and other determinants such as epilepsy and to get insight in possible targets for intervention. We confirmed the presence of a more severe phenotype in the 15q11.2‐q13 deletion subtype. Novel findings were an association of (early onset of) epilepsy with a negative effect on development, a high occurrence of nonconvulsive status epilepticus, a high rate of crouch gait in the older children with risk of deterioration of mobility, a relatively low occurrence of microcephaly, a higher mean weight for height in all genetic subtypes with a significant higher mean in the nondeletion children, and a high occurrence of hyperphagia across all genetic subtypes. Natural history data are needed to design future trials. With this large clinical cohort with structured prospective and multidisciplinary follow‐up, we provide unbiased data on AS to support further intervention studies to optimize outcome and quality of life of children with AS and their family.     

T and B lymphocyte markers in effusions of patients with non-Hodgkin's lymphoma

T and B cells were sought in effusion fluids of 13 patients with lymphoma. In T cell lymphomas (four cases) morphologically abnormal cells that formed E rosettes were present. In B cell lymphomas (nine cases) morphologically abnormal cells were present in only two cases, however immunological studies showed a reduction in T cells and monoclonal light chain immunoglobulin expression in six of nine cases.