Diagnostic Challenges in Malignant Hyperthermia and Anesthesia-Induced Rhabdomyolysis: A Case Study.

BACKGROUND Malignant hyperthermia (MH) and anesthesia-induced rhabdomyolysis (AIR) are rare, yet life-threatening complications that need prompt therapeutic actions and logistic preparedness for treatment success. Both conditions are triggered by general anesthetics, particularly volatiles and depolarizing muscle relaxants. In comparison with MH, which is an inherited pharmacogenomic disease of calcium channel receptor subpopulation and arises only after trigger exposure, AIR has been described mostly in patients with muscular dystrophies.

Apparently isolated ventricular septal defect, prenatal diagnosis, association with chromosomal aberrations, spontaneous closure rate in utero and during the first year of life: a systematic review.

To evaluate the incidence of chromosomal aberrations in apparently isolated ventricular septal defects (VSD), quantify the timing of diagnosis of prenatally diagnosed VSDs, and define the spontaneous closure rate prenatally both in utero and during the first year of life.

Novel Mutation in the Gene Causing Marshall-Stickler Syndrome in Three Generations of a Bulgarian Family.

Here we report the first familial case spread through at least three generations, genetically verified cases of Marshall-Stickler syndrome in Bulgaria. The proband, a 2-year-old girl, has craniofacial dysplasia, ocular hypertelorism, small saddle nose with a flat bridge and midface hypoplasia. The pedigree of the proband's family showed that her father has the same clinical manifestations of the disease.

[CALCIUM LEVELS IN URINE SAMPLE IN PREGNANT WOMEN WITH PREECLAPMSIA].

Hypertensive disorders during pregnancy are still leading cause for maternal and perinatal death. Calcium metabolism is impaired significantly in women with preeclampsia. Measurement of calcium levels in 24 hours urine sample is easy, modern, fast and not expensive predictive test to reveal women in high risk of developing preeclampsia in late pregnancy.

[ANTENATAL APPLICATION OF CORTICOSTEROIDS IN LATE PRETERM BIRTHS].

The aim of the following study is to present the current evidence of antenatal use of corticoids in premature birth. The benefits of antenatal use of corticosteroids after 34 week of gestation is still a process of discussion.