Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2

A 49-year-old man had an 8-year history of persistent, isolated elevation of serum creatine kinase (hyper-CK-emia) without muscle symptoms, and no electromyographic evidence of myotonia; his muscle biopsy showed features reminiscent of myotonic dystrophy (DM), with morphometric findings consistent with those described in DM type 2 (DM2). Genetic studies excluded mutations in the DM type 1 (DM1) gene, but revealed a CCTG repeat expansion in the ZNF9 gene, which is associated with DM2. Our data suggest that in asymptomatic patients with persistent hyper-CK-emia, DM2 should be considered in the differential diagnosis.     

Genetic structure of a Cuban population based on nine short tandem repeat loci

Cuba is a multiethnic and multiracial society. Here we describe the genetic variation of a sample of the Cuban population, which include the three most common racial groups, Caucasians, Negroids and Mestizos, by means of a set of nine microsatellites (HUMTH01, HUMTPOX, HUMCFS1PO, HUMVWA, HUMFESFPS, HUMF13A, HUMF13B, HUMLPL and HUMHPRTB). The analysis presented here indicates that these STR loci are highly informative for forensic purposes. The genetic data on the major racial groups is in good agreement with current demographic tendencies and with historic events that took place during the formation of the Cuban population.     

Monochorionic triplets after single embryo transfer

A 40-year-old patient underwent intracytoplasmic sperm injection and assisted hatching, and a single embryo was transferred. Ultrasonography demonstrated a single gestational sac containing monochorionic tri-amniotic pregnancy. Several factors that have been implicated in the aetiology of monozygotic triple pregnancies after IVF appear to be present in this case. To avoid multiple pregnancies after IVF, it is time to have definite predictive factors for the occurrence of monozygotic multiple pregnancies as well as transferring only a single embryo.     

Newborn outcome after assisted reproductive technology: experiences and reflections from Poland

In spite of much ethical uncertainty and wide variations in obstetric and neonatal outcomes reported in the literature, we have studied the outcome of Polish newborns after assisted reproductive technology (ART). In all of our patients, both obstetrics and neonatal care were performed in the Level Three Center in Poznan, Poland. A total of 45 and 82 newborns were analyzed from the ART and the control group, respectively. We analyzed gestational age, birth weight, Apgar score, duration of hospitalization, newborn mortality, and congenital malformations. We found a far higher rate of mothers over 35 years and with university education in ART compared to controls. The incidence of cesarean section and birth weight <1,500 g was much higher in ART. Newborn mortality was much higher among ART newborns compared to controls and was related to premature delivery of triplet pregnancy. The most important factor resulting in high neonatal mortality in our study group was multiple pregnancy. We consider the lack of regulation in Poland concerning the number of replaced embryos as a main factor influencing newborns' outcome after ART.     

Hypothalamic adipic hypernatraemia syndrome with normal osmoregulation of vasopressin

Adipsic hypernatraemia is an uncommon disorder in childhood caused by a defect in the osmoregulation of thirst, leading to impairment of water homeostasis and chronic hyperosmolality of body fluids. Adipsia is often associated with an abnormality in osmoregulated vasopressin secretion due to the close proximity of the hypothalamic osmoreceptors that control thirst with those regulating vasopressin secretion. Hypothalamic lesions of diverse aetiology (vascular abnormalities, neoplasms, granulomatous diseases, trauma etc.) have been described in this syndrome. We report a 12-year-old boy with evident weight loss due to hypernatraemic dehydration with a selective defect in osmoregulation of thirst and normal vasopressin secretion with no demonstrable structural lesion. To date, only six paediatric patients with this condition have been described in the literature. Conclusion:hypothalamic adipsic hypernatraemia syndrome must be suspected when a dehydrated patient denies thirst. The study of antidiuretic function is necessary because the osmoregulation of vasopressin secretion could be altered.Abbreviations ADH antidiuretic hormone - AVP arginine vasopressin - Posm plasma osmolality     

Engraftment syndrome emerges as the main cause of transplant-related mortality in pediatric patients receiving autologous peripheral blood progenitor cell transplantation

The authors examined data from 166 children who received autologous peripheral blood progenitor cell (PBPC) transplantation to ascertain the incidence of early transplant-related mortality (TRM) and the contributing risk factors. Eleven patients (6.6%) (6 boys, 5 girls) died within 180 days following PBPC infusion. The median age was 4 years (range 2-17). The overall probability of TRM was 6.9 +/- 2% at day +180. On univariate analysis, the status of disease at transplantation (complete remission vs. not in complete remission) was identified as the only pretransplant significant predicting factor for TRM (14% of patients who were not in complete remission died within 180 days after PBPC infusion, whereas only 2% of patients in complete remission died) (relative risk [RR] 1.13, 95% confidence interval [CI] 1.01-1.26, P = 0.01). Age, gender, conditioning, and number of CD34+ cells infused were not significantly associated with TRM. In the postinfusion phase, patients who developed multiorgan dysfunction during the neutropenic period, especially when the lung was the first failing organ (RR 16.1, 95% CI 7.16-36.18, P = 0.0001), and those with engraftment syndrome (RR 2.81, 95% CI 1.49-5.24, P = 0.001) had an increased risk for TRM. On multivariate analysis, development of engraftment syndrome was the only significant variable that influenced TRM. In conclusion, the authors found for the first time that engraftment syndrome emerges as the main cause of TRM after autologous PBPC transplantation in children with malignancies.     

Squamous cell carcinoma of the cervix presenting as lymphangitic carcinomatosis: a case report and review of the literature

BACKGROUND: Lymphangitic carcinomatosis (LC) secondary to carcinoma of the cervix is rare. The presenting symptoms are misleading and nonspecific, which often leads to delayed diagnosis. CASE: We present the case of a 24-year-old woman with dyspnea and lower back pain, who was found to have stage IIIb squamous cell carcinoma of the cervix complicated by pulmonary LC. CONCLUSIONS: Pulmonary LC is a rare but important manifestation of metastatic cervical cancer. Patients present with severe respiratory compromise, which mimics other, more common disease states. Diagnosis can be achieved by transbronchial biopsy. Optimal treatment of the patient with LC is not well defined, but a trial of chemotherapy and/or intravenous steroids may be warranted. Prognosis for this condition is poor.