Congenital anomalies are present in at least 10% of all neonatal intensive care unit admissions, of whom many have an underlying genetic condition. About 50–60% of human congenital anomalies are of unknown etiology, and approximately one- third are caused by genetic factors. A smaller percentage of birth defects are the result of chromosomal aberrations and gene mutations. Around 1 in 40 or 2.5% of all newborns have a malformation at birth. This may be an isolated malformation or may occur together with other malformations and/or dysmorphic features as part of a malformation syndrome. Around 4000 malformation syndromes have now been delineated. Many are associated with medical problems and making a specific syndrome diagnosis can influence immediate medical management. However, the infant with dysmorphism often does not have a major malformation, and may simply have an appearance that is unusual compared with the general population and of unaffected close relatives. The chapter intends to provide semnificative data concerning the approach and management of a dysmorphic neonate, mainly when there are minor anomalies and will offer all those relevant data and try to establish a protocol guide for the approach of the dimorphic neonate.
Part of the book: Congenital Anomalies
Polycystic ovary syndrome (PCOS), affecting 5–10% of women, is characterized by irregular ovulation and excess androgen hormones. The multifactorial causes include hormonal imbalances, insulin resistance, genetics, and obesity. Diagnosis involves identifying criteria like oligo/anovulation, hyperandrogenism, and micropolycystic ovarian appearance. Traditional treatments include progesterone-based medication and oral contraceptives. However, fertility-focused treatments such as clomiphene, metformin, purified FSH, or LH are administered for those seeking to restore fertility. This article explores “ProFecund Ino,” a myo-inositol-based treatment for PCOS. It touts benefits such as improved hormonal balance, regulated menstrual cycles, stimulated ovulation, enhanced insulin sensitivity, and positive effects on the nervous system. The study involving 200 women with PCOS showed a 38% pregnancy rate with ProFecund Ino and additional pregnancies resulted from ovarian stimulation and IVF procedures. The conclusion underscores the efficacy of myo-inositol-based treatments in conjunction with assisted reproductive techniques, significantly increasing pregnancy chances for women with PCOS.
Part of the book: Polycystic Ovary Syndrome