[Perception of the educational environment in residents of medical specialties in Chilean universities].

Background: The Learning Environment (LE) influences the performance of students, learning, social life, mental health, and the future of work.

Aim: To assess the learning environment (LE) among medical residents of 64 specialties.

Material And Methods: Two validated instruments "Postgraduate Hospital Education Environment Measure" (PHEEM) and "Ambulatory Care Learning Educational Environment" (ACLEEM), and open questions were answered online by 1259 residents from 15 universities.

International retrospective natural history study of -related congenital muscular dystrophy.

Muscular dystrophies due to heterozygous pathogenic variants in gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood. The natural history of these conditions is not well defined, particularly in patients with congenital or early onset who arguably present with the highest disease burden. Thus the definition of natural history endpoints along with clinically revelant outcome measures is essential to establishing both clinical care planning and clinical trial readiness for this patient group.

Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.

Objective: Thymidine kinase 2, encoded by the nuclear gene TK2, is required for mitochondrial DNA maintenance. Autosomal recessive TK2 mutations cause depletion and multiple deletions of mtDNA that manifest predominantly as a myopathy usually beginning in childhood and progressing relentlessly. We investigated the safety and efficacy of deoxynucleoside monophosphate and deoxynucleoside therapies.

Retrospective natural history of thymidine kinase 2 deficiency.

Background: Thymine kinase 2 (TK2) is a mitochondrial matrix protein encoded in nuclear DNA and phosphorylates the pyrimidine nucleosides: thymidine and deoxycytidine. Autosomal recessive mutations cause a spectrum of disease from infantile onset to adult onset manifesting primarily as myopathy.

Objective: To perform a retrospective natural history study of a large cohort of patients with TK2 deficiency.

Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis.

Cerebrotendinous Xanthomatosis (CTX), a rare lipid storage disorder, is caused by recessive loss-of-function mutations of the 27-sterol hydroxylase (CYP27A1), producing an alteration of the synthesis of bile acids, with an accumulation of cholestanol. Clinical characteristics include juvenile cataracts, diarrhea, tendon xanthomas, cognitive impairment and other neurological manifestations. Early diagnosis is critical, because treatment with chenodeoxycholic acid may prevent neurological damage.

A prospective cohort study of the prevalence of growth, facial, and central nervous system abnormalities in children with heavy prenatal alcohol exposure.

Background: Most children who are exposed to large quantities of alcohol in utero do not develop fetal alcohol syndrome (FAS). Population-based prospective data on the risk of developing components of fetal alcohol spectrum disorders (FASD), however, are limited.

Methods: This was a prospective cohort study of 9,628 women screened during their first prenatal appointment in Chile, which identified 101 who consumed at least 4 drinks/d (exposed) matched with 101 women with no reported alcohol consumption during pregnancy (unexposed).

Myotonic dystrophy in a female with myasthenia gravis.

The likelihood of coexistence in the same patient of myasthenia gravis and myotonic dystrophy has been estimated at 1 in 40 million. The case of a patient in whom both diagnoses were made is reported here. A 13-year-old girl was diagnosed with myasthenia gravis because of weakness, fluctuating fatigability, and mild difficulty with chewing and swallowing.

Peripheral nerve conduction abnormalities in children exposed to alcohol in utero.

Objective: We performed a longitudinal study of nerve conduction velocity to determine the effect of prenatal alcohol exposure on the peripheral nervous system. Study design We studied 17 children exposed to >2 oz of absolute alcohol/day prenatally and 13 unexposed children, identified prospectively from a cohort of pregnant women screened during prenatal care. Nerve conduction assessment was done on the median, ulnar, peroneal and tibial nerves during the newborn period and between 12 and 14 months of age.