D-Bifunctional Protein Deficiency Diagnosis-A Challenge in Low Resource Settings: Case Report and Review of the Literature.

D-bifunctional protein deficiency (D-BPD) is a rare, autosomal recessive peroxisomal disorder that affects the breakdown of long-chain fatty acids. Patients with D-BPD typically present during the neonatal period with hypotonia, seizures, and facial dysmorphism, followed by severe developmental delay and early mortality. While some patients have survived past two years of age, the detectable enzyme activity in these rare cases was likely a contributing factor.

Clinical and Radiological Characterization of Central Nervous System Involvement in Nocardiosis: A 20-Year Experience.

Background This study aimed to present the clinical and radiological characteristics and the outcomes of patients with infection of the central nervous system (CNS). Methodology We conducted a retrospective review of patients aged 18 and older admitted between August 1998 and November 2018 with culture-proven nocardiosis and CNS involvement. Results Out of 110 patients with nocardiosis, 14 (12.

When a "Low T" Diagnosis Can Be the Clue to a More Complex Problem.

Male hypogonadism remains a poorly evaluated and managed clinical condition despite the availability of clinical guidelines. We present a case of a male patient diagnosed with secondary hypogonadism related to partial empty sella syndrome, whose clinical course was complicated by a hypotensive near-syncopal event. Although initial hypopituitarism symptoms could be subtle and nonspecific and could involve only one hormonal axis, a thorough evaluation of the pituitary function may identify additional deficiencies such as a subclinical chronic adrenal insufficiency that may become manifest during situations of increased physiological stress with potential life-threatening consequences.

Post-Traumatic Cilia Remaining Inert in the Posterior Chamber for 50 Years.

Intraocular foreign body injuries (IOFB) can lead to a number of intraocular pathologies; the visual results depend on the mechanism of the injury, the type of foreign body and the subsequent complications. The presence of intraocular cilia (eye lashes) following penetrating injury or surgical intervention is uncommon. In the present paper, we present a case of a 58-year-old woman with a history of eye trauma and a perforated corneal wound in the left eye that occurred 50 years ago.

Questionnaire-Based Assessment of the Masticatory Function and Facial Nerve Recovery Post Pterional Approach in Brain Tumors Surgery.

Background: The pterional approach for craniotomy, one of the most used surgical intervention in neurosurgery, results in a series of postoperative changes that, if they persist, affect the patient's life, social reintegration, and his/her physical and mental recovery. The aim of the present study was to develop and validate a questionnaire for indicating directly affected masticatory muscles groups and facial nerve branches, in patients undergoing the pterional approach in neurosurgery, so that the recovery therapy can be monitored and personalized.

Methods: A self-reporting questionnaire consisting of 18 items (12 for postoperative masticatory status and 6 for facial nerve branches involvement), validated on fifteen patients, following three steps: items development, scale development, and scale evaluation, was prospectively applied twice, at a one-year interval (T0 and T1), with thirty-two patients suffering from vascular or tumoral pathology and surgically treated through a pterional approach.

A Decision-Tree Approach to Assist in Forecasting the Outcomes of the Neonatal Brain Injury.

Neonatal brain injury or neonatal encephalopathy (NE) is a significant morbidity and mortality factor in preterm and full-term newborns. NE has an incidence in the range of 2.5 to 3.

[Preliminary study about therapeutical contact lenses use].

The Aim Of The Paper: The goal of the paper is to emphasize the advantages of the application of therapeutical contact lenses as compared to the eye patch.

Material And Method: There have been taken into study 42 patients-43 eyes, to whom we applied therapeutical contact lenses.

Results And Debates: In the studied cases there have been taken into discussion the type of corneal diseases, the treatment prescribed, the period of time that the lenses have been worn and the possible complications.