Hereditary Neuromuscular Disorders in Reproductive Medicine.

Neuromuscular disorders (NMDs) encompass a broad range of hereditary and acquired conditions that affect motor units, significantly impacting patients' quality of life and reproductive health. This narrative review aims to explore in detail the reproductive challenges associated with major hereditary NMDs, including Charcot-Marie-Tooth disease (CMT), dystrophinopathies, Myotonic Dystrophy (DM), Facioscapulohumeral Muscular Dystrophy (FSHD), Spinal Muscular Atrophy (SMA), Limb-Girdle Muscular Dystrophy (LGMD), and Amyotrophic Lateral Sclerosis (ALS). Specifically, it discusses the stages of diagnosis and genetic testing, recurrence risk estimation, options for preimplantation genetic testing (PGT) and prenatal diagnosis (PND), the reciprocal influence between pregnancy and disease, potential obstetric complications, and risks to the newborn.

Fabry disease: a rare disorder calling for personalized medicine.

Fabry Disease (FD) is a genetic disease caused by a deficiency in the activity of lysosomal galactosidase A (α-GalA), an enzyme responsible for the catabolism of globotriaosylceramide (Gb3). Since lysosomes are present throughout the body and play a crucial role in catabolism and recycling of cytosolic compounds, FD can affect multiple organs and result in various symptoms, including renal, cardiovascular, neurological, cutaneous, and ophthalmic manifestations. Due to the nonspecific symptoms and the rarity of FD, it is often diagnosed late in life.

Brief comments on three existing approaches for managing neonates at risk of early-onset sepsis.

Background: Growing concerns regarding the adverse effects of antibiotics during the first days of life and the marked reduction in the incidence of early-onset sepsis (EOS) are changing the clinical practice for managing neonates at risk of EOS. Strategies avoiding unnecessary antibiotics while promoting mother-infant bonding and breastfeeding deserve to be considered.

Main Body: We compare strategies for managing newborns at risk of EOS recommended by the American Academy of Pediatrics, which are among the most followed recommendations worldwide.

[Post-traumatic myo-arthropathy of the mandibular joint. Report of a case].

The author reports a case of post-traumatic myoarthropathy which was resolved through the search for a new centric ratio which was subsequently transformed in ICP with a varied vertical dimension. This was based on the assumption that post-traumatic intracapsular modifications impose this therapeutic objective given that they do not fall within the range of muscular adaptability.

[Apicoectomy: indications].

Chronic apical periodontitis and apical cyst are chronologically different expressions of a chronic, productive-type inflammatory process. Treatment, however, differs with cases. As X-ray diagnosis is generally impossible, endodontic treatment is the first therapeutic action required.

[Ambulatory therapy with fosfomycin in dentistry and stomatology].

1-2 g/day or 3-4 g/day phosphomycin were administered per os to children and adults respectively for an average of 5.2 days in the outpatient treatment of 28 males and 18 females with parodontitis, gingivitis and dysodontiasis of bacterial origin. All patients presented swelling of the soft parts and 34 (74%) had hyperpyrexia.