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. We report a D-BPD case and comment on challenges faced in diagnosis based on a narrative literature review. An overview of Romania's first patient diagnosed with D-BPD is provided, including clinical presentation, imaging, biochemical, molecular data, and clinical course. Establishing a diagnosis can be challenging, as the clinical picture is often incomplete or similar to many other conditions. Our patient was diagnosed with type I D-BPD based on whole-exome sequencing (WES) results revealing a pathogenic frameshift variant of the HSD17B4 gene, c788del, p(Pro263GInfs*2), previously identified in another D-BPD patient. WES also identified a variant of the SUOX gene with unclear significance. We advocate for using molecular diagnosis in critically ill newborns and infants to improve care, reduce healthcare costs, and allow for familial counseling.

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 Nocardia 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 (12.7%) patients had CNS involvement. The median age was 54.5 (27, 86) years, and 12 (85.7%) patients were male. Overall, 12 (85.7%) patients were immunosuppressed on high doses of glucocorticoids; seven (50%) patients were solid organ transplant recipients. Only eight (57.1%) patients had neurological symptoms at presentation, and the rest were diagnosed with CNS involvement after imaging surveillance. Three distinct radiologic patterns were identified, namely, single or multiple abscesses, focal cerebritis, and small, septic embolic infarcts. All isolates of Nocardia were susceptible to trimethoprim/sulfamethoxazole and amikacin, with susceptibility to linezolid and carbapenems being 90.9% and 79.5%, respectively. Despite receiving antibiotic therapy, six (42.8%) patients died, most of them within weeks of initial admission. All surviving patients underwent prolonged antimicrobial therapy until the resolution of MRI abnormalities. All solid organ transplant recipients recovered. Conclusions Nocardia CNS infection was a rare condition, even among a large, immunosuppressed patient population. CNS imaging surveillance is paramount for immunosuppressed patients with nocardiosis, as CNS involvement influences the choice and duration of therapy. Nocardia antibiotic susceptibility varied widely between strains and the empiric therapy should consist of multiple classes of antimicrobials with CNS penetration. Mortality was high, but all solid organ transplant recipients recovered.

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. On the ophthalmological exam we noticed in the anterior chamber a straight linear extension, resembling cilia, extending behind the iris. The patient reports that it appeared during COVID-19 infection, after repeated episodes of coughing. After a follow-up period, we decided to remove the eyelash; 24 h after surgery, the patient complained of severe eye pain. Intraocular pressure (IOP) in LE was 54 mmHg. The slit-lamp examination showed perikeratic congestion, corneal edema and mydriasis. Eye hypotensive treatment was started immediately and the patient's general condition slightly improved. Intraocular cilia can be tolerated for many years without causing any ocular reaction. The decision for surgical intervention must be taken according to the individual needs of the patient and his ocular characteristics with careful pre- and post-operative follow up.

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.

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 3.5 per 1000 live births carrying a considerable burden for neurological outcomes such as epilepsy, cerebral palsy, cognitive impairments, and hydrocephaly. Many scoring systems based on different risk factor combinations in regression models have been proposed to predict abnormal outcomes. Birthweight, gestational age, Apgar scores, pH, ultrasound and MRI biomarkers, seizures onset, EEG pattern, and seizure duration were the most referred predictors in the literature. Our study proposes a decision-tree approach based on clinical risk factors for abnormal outcomes in newborns with the neurological syndrome to assist in neonatal encephalopathy prognosis as a complementary tool to the acknowledged scoring systems. We retrospectively studied 188 newborns with associated encephalopathy and seizures in the perinatal period. Etiology and abnormal outcomes were assessed through correlations with the risk factors. We computed mean, median, odds ratios values for birth weight, gestational age, 1-min Apgar Score, 5-min Apgar score, seizures onset, and seizures duration monitoring, applying standard statistical methods first. Subsequently, CART (classification and regression trees) and cluster analysis were employed, further adjusting the medians. Out of 188 cases, 84 were associated to abnormal outcomes. The hierarchy on etiology frequencies was dominated by cerebrovascular impairments, metabolic anomalies, and infections. Both preterms and full-terms at risk were bundled in specific categories defined as high-risk 75-100%, intermediate risk 52.9%, and low risk 0-25% after CART algorithm implementation. Cluster analysis illustrated the median values, profiling at a glance the preterm model in high-risk groups and a full-term model in the inter-mediate-risk category. Our study illustrates that, in addition to standard statistics methodologies, decision-tree approaches could provide a first-step tool for the prognosis of the abnormal outcome in newborns with encephalopathy.

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. RESULTS: No statistically significant correlation could be found between postoperative outcomes and age or gender. Facial nerve branch involvement could not be correlated with any of the assessed variables. Pathology and time elapsed from surgery were statistically significantly correlated to preauricular pain on the non-operated side (p = 0.008 and p = 0.034, respectively). Time elapsed from surgery was statistically significantly correlated to the ability to chew hard food, pain while yawning, and preauricular pain during back and forward jaw movements and gradual mouth opening. CONCLUSIONS: We created and validated a valuable patient-centered questionnaire that can be employed as a tool for postoperative assessment of directly affected masticatory muscles and groups of facial nerve branches.

[Preliminary study about therapeutical contact lenses use]. / Studii preliminare asupra folosirii lentilelor de contact terapeutice.

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. There have been prevailed herpetic keratopathies (12 cases), edemato-bullous keratopathies--aphakic and pseudophakic (12 cases), followed by recurrent corneal erosions (4 cases), full thickness corneal and corneoscleral lacerations (4 cases) and alkali chemical corneo-conjunctival burns of II-nd/III-rd degree and III-rd degree. CONCLUSIONS: 1. The wearing of therapeutical contact lens determined the improvement of the pain, of the eye discomfort and the corneal epithelium healing. 2. A therapeutical alternative clearly superior to the occlusive eye patch, the therapeutical contact lens limits the indications of tarsorrhaphy and conjunctival flap. 3. The therapeutical contact lens find their usefulness in a tectonic aim until the final surgical solution.