Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal-recessive disorder of gamma-aminobutyric acid (GABA) metabolism, resulting in accumulation of GABA and gamma-hydroxybutyric acid (GHB) in physiological fluids. Approximately 450 patients have been diagnosed worldwide with this inherited neurotransmitter disorder. We report on a five-year-old male patient, homozygous for the pathogenic variant (NM_170740:c.

Myotonic dystrophy type 1 in the COVID-19 era.

Introduction: Myotonic dystrophy type 1 (DM1) is the most prevalent muscular dystrophy in adults. People with DM1 might represent a high-risk population for respiratory infections, including COVID-19. Our aim was to evaluate the characteristics of COVID-19 infection and vaccination rate in DM1 patients.

Case-control study of primary hyperparathyroidism in juvenile vs. adult patients.

Objectives: Primary hyperparathyroidism in juveniles is extremely rare condition, but in the last few decades the incidence is increasing. The aim of this study was to compare biochemical and clinical characteristics of juvenile and adult primary hyperparathyroidism patients.

Methods: A retrospective case-control study was conducted from 2004 until 2017 in high volume endocrine surgery center.

Case report of parathyroid carcinoma in a pediatric patient.

Parathyroid carcinoma is extremely rare in pediatric population. The authors report a case of 15-year-old girl with extremely elevated serum calcium (4.1 mmol/L) and parathyroid hormone (1170 pg/mL), with palpable neck mass.

Quality of life in adult patients with limb-girdle muscular dystrophies.

Although limb-girdle muscular dystrophies (LGMD) can cause permanent disability, to date there are no studies that examined quality of life (QoL) in these patients. Our aim was to evaluate QoL in patients with LGMD, and to identify the most significant predictors of QoL. The study comprised 46 patients with diagnosis of limb-girdle muscular weakness.

Two seasons' experience with pandemic A H1N1 influenza infection in neonates.

There are only a few reports on influenza A H1N1 infection in neonates. In this paper, we present our additional experience on the clinical characteristics, epidemiology and treatment of influenza A H1N1 (2009) infection in 10 newborn infants (aged 9-24 days). Influenza A H1N1 infection was confirmed by real-time reverse transcription-polymerase chain reaction of the nasopharyngeal swab specimens.

Neonatal cellulitis and sepsis caused by group A streptococcus.

We report a case of late onset neonatal invasive group A streptococcal disease characterized with rapidly progressing cellulitis and development of sepsis. The infection was acquired from benign and mild skin infection of the child's mother. The causative agent was group A streptococcus, belonging to the emm type 53.